Praying for Smiles

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The Story Behind Our Precious Kennedy – A Baby Born with a Rare Genetic Condition

Submitted: July 01, 2019

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Submitted: July 01, 2019

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KENNEDY’S BIRTH AND THE FIRST FEW WEEKS

 

We found out I was pregnant with our third baby in late July 2016. We had two girls, Piper (age 2) and Tatum (age 4), and I had a feeling it would be a third girl. A few weeks later, sure enough, I was right! I loved the thought of having 3 girls, but admittedly, I was slightly disappointed... What if this was our last baby? Are we never going to have a boy? We’ve had our boy name picked out since we first started trying for a baby in 2010, and I wanted his middle name to be Kevin, after one of my dearest friends who died when I was 14. So, I cried to my mom. I remember not wanting to cry but through tears I said, “Maybe I'm supposed to have only one Kevin in my life”. I was happy after that initial moment, but I also want to admit, I felt a little less excited about my pregnancy. I felt like I was preparing for nothing “new” because I birthed, and was raising, 2 girls already.

 

I have never been more wrong.

 

Jason was great about having 3 girls, especially when I said “ok, now you can buy all the girls clothes you want because we can pass it down again!” He’s a PERFECT girl-dad, and the excitement for this sweet baby girl intensified the more I thought about my two older girls getting another sister. I have a sister and the sister relationship is truly special. Her name also brought so much joy and anticipation to meet her once Jason and I agreed on it. Kennedy Diane M. KDM. Her middle name, Diane, is after the mother of my late friend, Kevin. She is the strongest woman I know, and Kennedy’s initials are very similar to Kevin Matthew D. KMD. Kevin and I had been friends since birth and in addition to living across the street from each other the majority of his life, we attended the same schools and the same church youth group every week. From a very young age, I remember Kevin being more like a brother to me than a friend, so to say I LOVE her name is an understatement. Her name is beautiful and carries such a special legacy for me. My pregnancy was also fun and exciting because I shared being pregnant at the same time with two of my best friends who were also having GIRLS!! Instant BFFs for Kennedy.

 

My pregnancy was pretty uneventful. Kennedy’s growth was on track, my body handled the pregnancy well, and she was calm in the womb. She was not a huge kicker or mover but neither was my first born, Tatum. I was fully expecting a healthy delivery and healthy baby.

 

The last week of my pregnancy Kennedy moved very little. I honestly didn’t think anything was wrong, but I mentioned it to my doctor at my 39 week check-up. It was March 29, 2017, and my due date was April 2, 2017. My doctor didn’t like hearing the decreased movement comment so she wheeled in an ultrasound. At first, she said everything looked good but after a few minutes, she worriedly peered into the screen, and then called for her nurses. When she started getting louder because no one came, I realized something was wrong. She left the room quickly and came back with a heart rate doppler. She rubbed it around on my belly and obviously didn’t like what she heard or didn’t hear. Kennedy’s heart rate had dropped too low for too long. Over 1 minute. My doctor wanted me to go to the hospital as soon as possible. She said we had no time for an ambulance because she wanted me on the monitors immediately and asked, “can you drive?” Before I could respond, she offered to drive me, which made me slightly more nervous. Something was very wrong. The clinic wouldn't allow her to drive me for liability reasons, so she asked again if I could drive. I stayed unusually calm and responded, “yes, I can drive.”

 

After my doctor realized I was really ok to drive, she told me to drive up to the valet area of the hospital where a nurse would be waiting for me to take me straight to a room. There was no time to check in. She even offered to pay for my valet. I called Jason and my mom when I got in my car and told them that the baby’s heart rate had dropped, and I was headed to the hospital. They should meet me there.

 

I remember driving to the hospital and reaching up to hold my necklace, which I wear when I need peace. It’s a cross necklace I got a few weeks after Kevin died, and it has his initials on it and the year he died. I had tears in my eyes but it gave me peace. And, I prayed. I prayed Kennedy’s heart rate was steady again, and I wasn’t losing her as I drove. I could not even THINK about that possibility, and I remember literally shaking it out of my head. Stay positive, Carly.

 

The entire time I was driving, and even after I got to the hospital and hooked up to monitors, I still didn’t realize I was going to have a baby that day. I had a 3pm appointment with a new client, and I really wanted to go into labor on my own, the way I did with Piper. I experienced a Pitocin induction with Tatum and no thank you! Once I got to the hospital, the nurses hooked me up to monitors and Kennedy was doing perfect again. Her heart rate looked good. Thank God. My prayer was answered, and I still thought maybe I’d be released…but as I looked around, I realized I was in a labor and delivery room. Start the Pitocin. I wouldn’t be leaving here without a baby. 

 

Kennedy did great throughout the labor, and I pushed her out pretty easily. She was 7lbs 14 oz., my biggest girl yet! My cord was pretty short and brittle so my doctor felt it may have contributed to the too-long-for-comfort decrease in heart rate. We took her home, and I was pretty content until about a week after her birth. Once the swelling had gone down, about day 2, I noticed Kennedy’s head was slightly misshapen. The right side of her forehead bulged out but being pushed through a birth canal can cause swelling and temporary deformities, so I didn’t dwell on it too long. It was about 1-2 weeks after she was born when I noticed the bulge was still there. I started having some panic attacks and PTSD from the entire labor experience. Did she lose oxygen when her heart rate dropped? My cord was bad, did it cause loss of oxygen to the brain? Does she have a brain tumor? My mom told me to call my doctor to ease my worries. My doctor assured me that the labor was perfect and my baby was perfect. No cause for concern. And, she was right. Nothing happened to Kennedy during labor.

 

The phone call helped tremendously, but I still worried about Kennedy’s head. At Kennedy’s two week check-up our pediatrician acknowledged the slight bulge in Kennedy’s head but felt like it would even out over time. Not to worry.

 

SCHEDULING SPECIALISTS

 

Over the next couple of weeks, in addition to the bulge that was not going away, I felt like Kennedy did not (or could not) move her head very well. May 31, 2017 was Kennedy’s two month check-up where I brought my concerns to the pediatrician who agreed with me. He recommended seeing a neurosurgeon to check her skull which was still misshapen and seeing a geneticist because she had some asymmetry in her arms, legs and abdomen. Basically, the whole right side of her body looked slightly larger than her left side, including her forehead. And when I say slightly... I didn’t notice her arms and legs until he pointed them out and most people didn’t notice her head. Kennedy also could not look to the left. It was as if she didn’t have the full range of motion in her neck to turn her head to the left. The pediatrician did not comment too much on her lack of movement. Maybe it was because he wanted us to see the neurosurgeon first, or maybe he didn’t quite believe me.

 

As you can imagine, what I was told at Kennedy’s two month well-check are not things any parent wants to hear. Two specialists need to be scheduled? My other girls had never seen a “specialist”. Tatum had to spend three nights in the NICU because she was born 5 weeks early but other than that, she nor Piper had any out-of-the-ordinary illnesses, delays or hospitalizations when they were babies. I should have been shocked, scared, panicky, but those were not my immediate reactions. It was as if I knew. I knew something was wrong with Kennedy, so I felt empowered to get answers. Thankfully, we live in Houston, Texas, one of the best cities for medical research in the world, and Kennedy’s pediatrician is affiliated with Texas Children’s Hospital, an incredible facility for children. We will come to know it, love it, dread it and live it all too well. 

 

First, I was able to schedule the neurosurgeon to examine Kennedy’s skull. It was May 31, 2017, but the earliest appointment I could get was June 19, 2017. Being completely new to all these specialists, I actually thought we were going to see a neurologist, and I have to admit, I thought I would get answers regarding her inability to look left. I didn’t realize, at the time, that neurology and neurosurgery were two completely different clinics/specialists at Texas Children's. I also had NO idea what to expect at the neurosurgeon appointment but our pediatrician had mentioned a helmet, which I was fine with. I was more curious about why my daughter could not look to the left. It was beginning to concern me much more than the shape of her head.

 

The timeline is a bit hazy, but I remember calling my mom one morning before the neurosurgeon appointment. I just broke down in tears because I was playing with Kennedy, and she could not keep her head turned to the left. It was the strangest thing, and I feared everything from vision problems to a brain tumor. My mom stayed calm and calmed me down too, reminding me that I would get answers soon. My mom is very good at keeping me calm, and she seems so calm when I speak to her. What I didn’t realize, at the time, was after I hang up with her, she immediately begins crying herself and usually calls my dad or my sister in tears. It breaks my heart; I don’t mean to worry other people with Kennedy’s medical issues but sometimes I have to “lose it” to someone.

 

After being put on the schedule to see the neurosurgeon, I also had to schedule the genetics appointment. Our pediatrician had used the word hemihypertrophy to describe Kennedy’s asymmetry, so in addition to making appointments, I immediately began researching the condition. I am an attorney so research is second nature to me. Here is what I found:  Children with hemihypertrophy have a 5% chance of developing kidney or liver tumors that are typically cancerous, and they must get screened for the first eight years of their lives. I later found out that the 5% chance of developing tumors was relatively high compared to healthy children or children without cancer-causing conditions that have a less than .1% chance of developing tumors. Not one percent, one tenth of one percent!! The head doctor at Texas Children’s cancer clinic told me this incredible statistic. My research left out the latter part leaving me to think that a 5% chance was extremely low. Actually, the opposite is true, Kennedy would be 50 times more likely than my other girls to develop a tumor if she had hemihypertrophy. Soon after, I learned we cannot conclusively prove whether she has it or not as there is no blood work nor any procedure that can tell us. It’s more of an eye test or clinical diagnosis based on asymmetrical features, and doctors always err on the side of caution with any child that has such features because the screening is non-invasive and if tumors were to develop, they grow fast, so early detection is key.

 

I was not going to wait until July 13th when I could get an appointment to see if a geneticist thought Kennedy had hemihypertrophy, especially considering it’s somewhat subjective. I needed her screened as soon as possible. Knowing my concern and how well-versed I was on hemihypertrophy my pediatrician gave the order to start screenings right away. We were put on hemihypertrophy “watch” for at least the first year of her life which meant she had to have an ultrasound and blood work to test her protein level (for tumor detection) every three months. Armed with the pediatrician’s order, I scheduled Kennedy’s first ultrasound and blood work on June 9, 2017. I need to mention here that there is also a bulge on the right side of Kennedy’s abdomen, which she has had since birth. I was worried about it too, but when I had asked our pediatrician he was not concerned about a tumor because it was soft, and she had no other symptoms. However, knowing the chances of tumors in children with hemihypertrophy, my worries began escalating. I needed that ultrasound stat. I asked my sister to go with me to the first ultrasound. My husband was working and I tried to play it off that I wasn’t scared or nervous so he didn’t need to come, but I wanted someone with me. We were both very positive, and the ultrasound went well. The radiologist received the ultrasound right away, but I was told that I may not get the results until much later that day. My anxiety kicked in after I left, and all I could think about was my desperation to get those results. 

 

What if she has a tumor? She’s barely 2 months old...how can she already have cancer? She doesn’t have cancer. Does she? Is my baby going to die? I am not a very anxious mother. In fact, my anxiety issues got better with motherhood, and I stay surprisingly calm in traumatic situations. I owe it ALL to my belief in God and my relationship with Jesus Christ because there is no way I can take credit for it. I decided to text my best friend and partner in the law firm, Gigit, to give her an update and vent about wishing the results were faster. She first told me to wait at Texas Children’s until the results were read, which I couldn’t do because I had already left. Then, she told me to keep calling and asking for the results, and if that didn’t work, to demand the results as an attorney or that she would demand them as an attorney on behalf of Kennedy. She apologized through text after the last suggestion and followed it with, “But I’m a much more anxious mom than you are”. I laughed reading it because we both know it’s true, but at that moment, I was thankful for her anxious determination.

 

I called the radiologist lab, and they assured me that our pediatrician would have the results that day. Not knowing what to do and knowing my brain couldn’t possibly concentrate on anything else, I drove to our pediatrician’s office. Or, my car drove me really. And I waited. I sat there, in the waiting room, waiting for someone, anyone to tell me that my daughter didn’t have a tumor. My eyes filled with tears several times. I hadn’t let myself cry about it until then, and I had to keep the tears minimal or I was afraid I’d never stop crying. I want to be strong and intelligently coherent for Kennedy as much as humanly possible. The nurse saw it on my face, and she went back and interrupted our pediatrician from his appointments so that he could read the results. She came back out with a sticky note because he really didn’t have time to discuss it with me (and I understand that) but they both knew, I needed to know. Normal. She had a normal ultrasound! I cried again. Happy tears. Our first good result on her first test since concerns were expressed at her 2 month well-check. Now, on to the neurosurgeon.


In my view of Kennedy’s head, I thought it looked really misshapen. The right side of her forehead bulged out, and I thought for sure she would need a helmet to even it out. I was wrong. When we went to the neurosurgeon, they took a measurement with this pretty high-tech machine where Kennedy laid flat on a contraption similar to an infant scale and the machine measured the flatness of her skull. Not only did I have no idea that helmets only fix flatness, I didn’t even consider Kennedy’s head flat, but sure enough, the right side of the BACK of her head looked flatter than the left, which explains the bulge of her forehead on the right side. I was given the description of a cardboard box and if you push the back of one side flat, the front pops out. It made sense but didn’t explain why she could only look to the right, nor WHY her head was shaped that way. The neurosurgeon kept telling me it was the way she was laying while sleeping, and I kept correcting her saying, “NO, she was born with her head shaped like this”. It was the first time after having 3 kids that I refused to let a doctor tell me something I knew was wrong because I knew my baby. The neurosurgeon did not. Finally, I got her to admit that the deformity could have happened in the womb. But why? That was more to myself because the neurosurgeon only dealt with children’s skulls outside of the womb, and she had no concern with Kennedy’s skull. She did, however, think Kennedy’s asymmetry should be looked at by the vascular anomaly clinic, which studies veins or the vascular system. Perhaps oversized veins on the right side of her body were causing the asymmetry. Another appointment with another specialist was scheduled.


Although it sounds like we didn’t get much out of the neurosurgeon appointment, it did lead to one answer or suggestion regarding Kennedy’s inability to look left and it came from the Physician’s Assistant. She told us that Kennedy had torticollis (stiff or twisted neck syndrome) and gave us a referral to see a physical therapist. You have to receive a referral through a doctor to get therapy at Texas Children’s so I was grateful for her clinical diagnosis, and after significant research, I realized torticollis was exactly what she had and could explain so many things. I had hope again that everything would be fine. Kennedy can grow out of this.


On June 26, 2017, at 3 months old, we had our first physical therapy evaluation through Texas Children’s Hospital at The Woodlands campus to determine whether she had torticollis. Sure enough, not only did Kennedy have extreme torticollis in her neck, she had tightness on the whole right side of her body, so we immediately scheduled physical therapy to start once a week for 30 minutes. At this time, we still didn’t know much; however, what we did know (that she MAY have hemihypertrophy and that she definitely had torticollis), seemed like things we could get past:  (i) the hemihypertrophy was concerning but many kids get screened and never develop tumors; and (ii) the torticollis could be corrected with physical therapy. By the end of July, Kennedy was 4 months old, could not roll over, had trouble lifting her head and fatigued easily, but, perhaps, Kennedy’s torticollis had contributed to her developmental delay and her abnormally shaped head/abdomen. I pushed forward and committed to as much physical therapy as they thought she needed.

 

I was definitely more optimistic; however, there were still questions lingering in my mind:  Why is her skull misshaped? Why is she so tight on the right side? Why does she have asymmetry? Why does her abdomen bulge out? What happened in the womb? Somewhere deep inside me, I knew there was something else wrong. I don’t know how, what or why. I guess mommy’s intuition and the fact that Kennedy was my third, so I knew her physical delays weren’t the only concerning thing. Kennedy did not and could not track people, noises or toys, and she didn’t smile much, if at all. During these physical therapy sessions, the therapist commented on her lack of tracking quite a bit, and she recommended we see an ophthalmologist. Another specialist to schedule. 

 

We had the vascular anomaly appointment on June 26, 2017 and the genetics appointment on July 13, 2017. There was absolutely no concern with Kennedy’s veins or vascular system. After driving all the way down to the Houston medical center (50 minutes from where we live), the appointment lasted maybe 10 minutes. The genetics appointment was a little more interesting because the geneticist believed that Kennedy was too “on the fence” regarding hemihypertrophy to rule it out and that we should continue with the blood work and abdominal ultrasounds every 3 months. Those may seem like small feats but getting blood from Kennedy, at that age, was very hard. She’s chubby and her veins are deep so they had to use the “vac team”, which are technicians that draw blood from kids using an ultrasound on their arms to guide them to the veins, and in order to get the “vac team”, I had to take Kennedy to a Texas Children’s Hospital with the closest location to us being about 30 minutes away. But, you do what you have to do, so I scheduled out ultrasound appointments through the end of the year. The geneticist also recommended two other genetic tests to determine if she had other syndromes. I don’t even remember what they were because it was mainly to rule them out, and they were ruled out.

 

CONNECTIONS BY THE GRACE OF GOD

 

Around this same time, I also had my friend, Christi, evaluate Kennedy because she had once worked for ECI (early childhood intervention) evaluating developmental delays in children. I had no idea Christi used to do this until my mom mentioned it to me, and when I asked Christi, she was more than happy to help. It’s amazing the people that God puts in your life. Christi and I actually have a unique bond in that we grew up in the same church and attended its youth group together, the same youth group that Kevin attended with me. Christi and I are also survivors of the bus accident that took Kevin’s life. We were coming home from a youth group ski trip in Colorado and black ice caused our bus to roll off the side of a mountain. Kevin and two others passed away that night, but based on the accident report, there should have been several more fatalities (my testimony from this accident is another story I will soon share). Christi and I had not seen each other much since the accident, but we had recently reconnected when Jason and I moved back to the Houston area and our kids started going to the same preschool, which also happens to be connected to the church we grew up in. No matter where life takes you, when you endure a life altering tragedy with people, there is an unexplainable bond between you. And there we were, almost 18 years later, trying to figure out what was wrong with my baby.

 

Christi evaluated Kennedy with the ECI’s evaluation sheet based on Kennedy’s age, and it revealed, as I suspected, that Kennedy was indeed globally delayed. It had been her inability to track people (not even her wild sisters!), and her overall lack of personality that concerned me the most. Today, I look back at pictures of Kennedy at 4-5 months old, and she has a blank stare with no smile. Kennedy wasn’t smiling at 4 months old. THIS KILLED ME THE MOST. To not have your baby look at you, not smile at you and definitely not recognize you is something a mother should NEVER have to experience; nor any parent, but I think it effects mothers more intensely. We are hormonally attached to our babies from the moment they attach to our uterus. It almost completely broke me, and I only opened up about it once to two friends after a night of bunco and wine. I remember losing it and through tears saying, “My baby can’t smile”. They both cried with me. They are mothers too. I love them.

 

I know I should have allowed myself to open up to others about what I was going through, but there was a part of me that always tried to stay positive for myself and for everyone around me that loved Kennedy, so I continued to move forward. I blamed her developmental delays on the torticollis, but somewhere deep inside me, I knew. I knew something else was wrong.

 

In early September, I also noticed that Kennedy seemed to slouch to the left, and when I held her in certain ways, she seemed a bit crooked. I made an appointment with our pediatrician to look at her backbone. Our pediatrician was out so I saw another one at the same office on September 12, 2017. His bed side manners were not comforting, but of course, he had no idea what I had been through for the past 5 months. From across the room, he very bluntly stated “oh yes, she has scoliosis. I can see the curve from here”. I broke down. I cried uncontrollably for a solid minute. Not so much about the scoliosis but more about ALL OF IT! I had heard so many abnormal things about my daughter that it was too much, and in that moment, I LOST IT (it’s almost comical looking back because I would soon find out SO MUCH MORE).  The pediatrician of course softened from my hysterical crying, and I remember him asking me, “What can we do to help you”. My thought was FIX HER!!!! But instead, I pulled myself together and said, “What should I do?” and proceeded to tell him a watered down summary of Kennedy’s medical concerns. He said, if it was his daughter, he would schedule an appointment with an orthopedic surgeon to determine the severity of the spinal curve, and he proceeded to give me referrals. He also said that he would get her into therapy at Open Door Pediatrics, a private pediatric therapy center that although outside of Texas Children’s Hospital, is a great facility – OH MY GOSH!! Open Door Pediatric Therapy is a client of mine. They knew me, they would get me in. Yes, perfect, another God-send. I felt good leaving that appointment even though it started out not so good. Three more appointments scheduled before I went to bed that evening: an orthopedic surgeon on September 20, 2017, an evaluation for therapies at Open Door Pediatrics on September 15, 2017, and I finally scheduled the ophthalmologist for September 26, 2017.

 

YOUTUBE GAVE US AN ANSWER

 

On September 14, 2017, a day that will forever be engrained in my brain, I was home with Kennedy, and we were working on her therapy mat when she started doing some weird movements. Kennedy was 5 ½ months old, but it looked like she was doing the newborn jerks, jerking her arms and legs out at the same time with almost a startled expression. I had seen these movements by Kennedy before, but they were brief and not in a continuous string like I was witnessing this morning. The jerking came every 5-10 seconds, and they weren’t stopping. Her eyes also seemed to freeze at the same time she jerked. I immediately grabbed my phone and started recording her. The video was approximately 4 minutes before she stopped the jerking and seemed fine. I had come across infantile spasms in my online research before when I noticed Kennedy doing similar movements, but the website described infantile spasms as coming in clusters, so I had immediately dismissed it. On this morning, a morning I will NEVER forget and an experience that even to this day, makes my heart start pounding the moment I think of it, I googled infantile spasms again and a YouTube video popped up. I compared my video of Kennedy to the one on YouTube and they were almost identical. My baby was having seizures. I knew it.

 

I called the emergency line of Texas Children’s Hospital and said, very bluntly, “I think my baby is having seizures or infantile spasms” and described everything. I remember the woman telling me to hang up and dial 911. I thought that was a little extreme. I think I even said something like, “Really? I don’t think she needs an ambulance.” Yes, of course I was concerned about Kennedy, but she wasn’t losing consciousness or having difficulty breathing, and, as I mentioned before, I stay unusually calm in traumatic situations. The woman said if I didn’t call 911, I needed to take her to the nearest emergency room if I thought I could drive. Now the choice was up to me, so I did the first thing I could possibly think to do: call my mom. My parents bring me peace. Always have. And, I wanted her opinion on whether to call 911 or not. I knew Kennedy’s life at that moment wasn’t in danger, and I wasn’t panicking. Nothing in me felt like I needed to panic. My mom sounded slightly tenser than me on the phone, but she agreed that if I felt ok to drive, I should drive. But I didn’t know where to take her...my mom said, “What about where you had her, that hospital has an ER.” I agreed that it was the closest, and I knew it the best. Before we hung up, she said she would meet me there. Then, I called Jason. It’s hard to get Jason at work in the morning because he schedules natural gas around the clock for most of the morning. He didn’t answer after the second try, so I texted “911 Kennedy” as I was loading her up to take her to the emergency room. He immediately called me back, and I relayed what happened. I don’t think he even looked at his colleagues that work right next to him. He was out the door and headed to meet us at the ER.

 

I arrived at the hospital and my mom and my sister were waiting outside of the entrance. I took my time parking and got her out and into a stroller, all the while I am sure confusing the hell out of my mom and sister. “Why is she taking forever?”; “Her baby may be having seizures!!” But I knew Kennedy was ok. I mean, I knew she wasn’t about to die. She was breathing and completely coherent. And, although I had a gut feeling she was having infantile spasms, I didn’t know for sure. There was even that part of me thinking, am I overreacting? Seeing something that’s not there? I also knew that going into full panic mode would not help the situation. 

 

We checked in to the ER, and Kennedy was finally examined after a pretty good wait. She was still having the spasms, and they came in clusters. They lasted anywhere from 30 seconds to 5 minutes then she would stop for about 30-45 minutes (and sometimes go longer in between). Luckily, I was able to catch more on video. The ER doctor watched the videos, and he witnessed her having some during the examination. He agreed that they looked epileptic (looked like seizures) and informed us that she needed to be transferred to Texas Children’s Hospital via ambulance.

 

It’s been about 18 months since that morning and looking back, I did some right things, and I did some wrong things. I should have known, or at least been told, to take Kennedy to an emergency room at a Texas Children’s Hospital. No general ER doctor is going to have pediatric specialty involving epilepsy. However, I went to the closest ER and maybe that’s what I needed to do. Thankfully, the general ER doctor recognized that the jerking movements that Kennedy was doing LOOKED epileptic and did not send us home. From everything I have read about seizures and infantile spasms (and believe me, it’s far too much to even estimate), most cases are missed because they don’t LOOK epileptic or the doctors think it’s reflux or typical baby jerks. This doctor at least advised us to get a pediatric specialist on it at Texas Children’s Hospital and he ordered the transportation.

 

Kennedy was loaded onto a stretcher, which was hard to see. She had to be anchored down pretty well because if she did have a stronger or longer seizure, they needed to make sure she was safe. Plus, we were headed to Texas Children’s Hospital in the medical center which is a solid 50 minutes from where we live in Houston. We were originally told that we needed to go to The Woodlands campus because there were no beds available at the medical center location. By this time, my dad knew what was going on and he had made some calls. My dad serves on the Board of Directors for Baylor College of Medicine and has for over twenty years. Texas Children’s Hospital is funded and staffed by Baylor College of Medicine. I am sure he never thought he would have to, or wanted to, “make that call” but he did. We were immediately re-routed to the Texas Children’s Hospital in the medical center with the #2 children’s neurology clinic in the nation. He was told by the CEO of Texas Children’s, “This is the time you make these calls and you don’t feel bad about it.” My dad has given a lot of his time to Baylor College of Medicine, and I do not for a minute take it for granted.

 

Before we were loaded up in the ambulance, I was given a lot of information regarding what they would do if Kennedy had more seizures on the way – basically an emergency medication (like a valium) would be given to her to stop any life-threatening seizures. By this time, I was getting more scared. It all became very real when she was loaded on that stretcher. We were soon on board with the Kangaroo Crew, a pediatric intensive care transport service, and although I was able to ride with her, I had to sit up front. I remember feeling so far away from her. On the way, tears finally fell.

 

People have asked me, “what was Jason thinking during this time”? Jason does not show emotion very easily (stereotypical man), but I could tell he was worried. He acted very irritated when we were at the ER, and I think it was because he wanted answers. We were both completely new to the possibility of having something medically wrong with one of our children. When Jason gets stressed (which is not very often) it comes across as angry, but he was not necessarily angry. I think he was scared and confused. I had not voiced my concerns about Kennedy to Jason as much as I probably should have. I did not want to seem neurotic or paranoid. Recently, when I asked him how he felt during the ER visit and ambulance ride to the hospital, he told me that of course he was worried but he figured, in that moment, everything would eventually be fine. He was not dreading some terrible diagnosis, unlike me, who had researched every possible “terrible diagnosis.” We have very different personalities, but I see it as a good thing. It’s what makes our relationship work.

 

“WE HAVE TO RUN SOME TESTS”

 

When Kennedy was first examined by the neurology team at Texas Children’s Hospital, they were skeptical until I showed them the various videos I had captured on my phone of her jerking episodes. One in particular made them all shake their heads “yes” and start writing. It was the one where Kennedy’s head dropped during the jerking episode while she was sitting on my lap. They all agreed that it was likely infantile spasms and tests needed to be ordered immediately to try and determine the cause. The first test would be an MRI. My baby had to be put under anesthesia at 5 ½ months old. She also needed a spinal tap, an EEG and lots of blood drawn. They were going to test her blood for metabolic issues and neuro-genetic issues. It was one test after another and all the while, Kennedy was having seizures. At this time, Jason’s parents and my parents were with us, and I remember my dad saying, “You may be here for a week.” That’s when I started thinking about my other two children. They were at school and someone needed to get them. I think I only had to make two phone calls. It was decided that my friend, Gigit, would pick them up and take them to her house until my mom felt like she could leave the hospital. Then it was my mom and Jason’s mom that made the rest of the plans for our other two girls for the remainder of the weekend, and I think they had thought through the whole following week. THANK THE LORD FOR THE VILLAGE AROUND US.

 

The testing started. We were told that the infantile spasms could be caused by a wide variety of things, and one answer may be that there is no answer or no found cause, which could actually be a good thing. I also remember being told that if we could not stop the infantile spasms, it would lead to significant brain damage. I think that comment left me in a state of shock, and it rang in my head for several days to come. It still does.

 

As I mentioned, the MRI was our first test and it happened the following day. Waiting in the MRI waiting room was when I lost it the most. I couldn’t stop crying, but I tried to hide it the best I could from Jason and his mom. My parents were not there yet. I am not sure why I wanted to appear so strong to everyone else, but I was NOT in that moment. Thinking about her going under anesthesia at such a young age and maybe never waking up or that maybe they were seeing, at that very moment, that her brain was indeed damaged. I was a wreck. I remember seeing (and trying not to stare at) a little boy in the waiting room that was in a wheelchair and obviously severely disabled mentally and physically. His dad was very attentive. You could see the love in his eyes. I honestly wondered if that was our future with Kennedy, and my heart almost couldn’t take it. I went on a walk around the outside of the hospital because I couldn’t sit in the waiting room anymore. I prayed. I had prayed a lot of prayers throughout this whole experience, but I prayed a very difficult one at that moment. A prayer no parent should EVER have to pray:

 

God, please. If Kennedy is mostly brain dead or will become brain dead, please God, take her. I don’t want you to God, and a part of me would die too, but she deserves better. She deserves a life, and I’d rather that life be with you, Lord, then here on this Earth with no brain; no ability to love or feel loved or be happy. That’s not fair to her, Lord. Please, please, please. I have prayed for her healing, and I have prayed that she is ok but please, Lord if she’s not….if she can never be…please take her. Take her home. She is your child first and always will be. But, if she can be healed, if she can live and experience love and happiness and those precious gifts you gave to us, then I promise to take care of her and do my best to be the mother you need me to be. I will struggle, and I’m sure I’ll screw up a lot but she’ll always be loved, and she’ll always know you. Thank you, Lord. Thank you. Thank you for Kennedy. Amen.

 

I typed this prayer into my iPhone notes that very night because I did not want to forget it. Every time I read it, I remember the feeling I had. It was a feeling of pure selflessness. At that moment, I wanted what was best for Kennedy, regardless of how it would affect me or how hard my life would become.

 

Kennedy woke up fine from the MRI, and I was able to hold her for the rest of the night. The on-call doctor came to our hospital room at 10:30pm with results from her MRI. I remember feeling ill at first, but he read them so fast I didn’t have time to analyze why he felt like 10:30pm was the best time to reveal the news. Does that mean good or bad? It was good. The MRI was clear. Kennedy did not have physical brain damage that was causing her infantile spasms. By this time, we were all pretty certain she was experiencing infantile spasms because the episodes were happening much more and lasting much longer. However, to be sure, an EEG was scheduled for the following day. Kennedy had 27 electrical wires hooked around her skull. Sure enough, it revealed 80-100 seizures happening within a 3 hour time frame. She was given the official diagnosis of infantile spasms. Our second diagnosis with certainty – torticollis being the first.

 

Knowing what I know now, that Kennedy has “low tone” (low muscle tone) and will always have low tone, I remember one of the neurologists that first examined her stating, “she did not present with low muscle tone.” That was really our only completely missed diagnosis, but it was a big one. Because, if they believed Kennedy had low muscle tone, I think they would have ordered a chromosome screen or CMA – chromosome microarray, which was not ordered while we were in the hospital. A CMA would have given us our answer.

 

Our next steps were strictly trying to find the cause of the infantile spasms and getting Kennedy on medication to stop them. Her next big test was a spinal tap to gather spinal fluid that may reveal the cause. She had to be put under anesthesia again. I was much calmer during this test and began updating my closest friends and family. I knew I had to call Kennedy’s name-sake, Diane, but I was pretty emotional about making that call. I wanted my mom to do it because I thought I would break down. Diane is the strongest woman I know, but she has lost a son and causing her more pain is something I NEVER want to do. And, a part of me felt guilty. What if Kennedy dies too? It’s still hard to think about. The doubt, guilt and fear melted away when I heard her voice coming from my mom’s phone. I wanted to talk to her. We talked, and I felt much better. She lit candles for Kennedy that night and Kennedy was instantly on people’s prayer lists that I’ll probably never meet. Diane has lots of friends.

 

UNICORN MEDICINE

 

Kennedy’s spinal fluid revealed nothing, and the majority of her blood work came back revealing nothing as to the cause of the infantile spasms, so we went about focusing on medications. Adrenocorticotropic hormone or ACTH is a hormone produced in the anterior, or front, pituitary gland in the brain. The function of ACTH is to regulate levels of the steroid hormone cortisol, which is released from the adrenal gland. We were told that this hormone has had the largest success rate in controlling and stopping infantile spasms. We were given other options, but there was no way I wasn’t going with the best. I wanted it immediately but the hospital needed authorization from my insurance company because apparently, each vial cost anywhere from $30,000-$100,000. Now, come to find out, those prices were ridiculously marked up and didn’t really apply to children experiencing infantile spasms. We were offered a program that greatly reduced the price, and our health insurance completely covered it. Thank God. However, we still called it our unicorn medication because surely something that expensive comes from unicorns. I also made it clear that we weren’t leaving the hospital until Kennedy had her first dose of the ACTH. Luckily, the hospital had a vial and was willing to let us have it. The ACTH had to be administered by an intramuscular injection into Kennedy’s thighs every night. Jason and I practiced on dummies and gave Kennedy her first shot in the hospital. We were released the next day with other instructions regarding infantile spasms and ACTH side effects. Our total stay in the hospital was 4 days and 3 nights. Back home we had to move on with our everyday lives coupled with an epileptic baby.

 

Of course that did not, by any means, end our journey towards figuring out what was causing Kennedy’s infantile spasms, but it was a giant first step. At home, we hired a night nurse to keep an eye on Kennedy and initially help administer the shots. Home health is hard to navigate, but after talking with my friend, Lauren, she reached out to a woman who is highly connected in the medical field in Houston and was able to recommend a pediatric home health company for us to use. I remember walking the hallway between the two buildings of Texas Children’s Hospital and trying to explain what was going on with Kennedy to a woman I had never met (and will probably never meet) but who was so eager to help us. It makes me tear up thinking about it. There are truly good people in this world. These nurses gave us peace of mind for the first few weeks after leaving the hospital, and we soon become pros at giving Kennedy her shot as part of our nightly routine. Kennedy was still having the infantile spasms, and it was so hard to watch knowing with 100% certainty that they were seizures. I remember one episode lasting almost 40 minutes, and I just held her the whole time and cried. One of the nurses patted my back and said, “God has this sweetie”.

 

The ACTH, unicorn medicine, greatly reduced the infantile spasms but did not completely stop them, and the more we increased her dosage, the more Kennedy grew irritable. She is a baby that rarely cries, but she was miserable while on that steroid. I finally made the decision to call her neurologist because I could not bear to see her in pain anymore. The neurologist agreed and decided to add another medication and slowly ween her off the ACTH. We started giving Kennedy zonisamide (an anti-epileptic drug), and her infantile spasms eventually stopped. We then weened her off the steroid completely and continued with only the zonisamide.

 

THE DIAGNOSIS

 

After our hospital stay, we had three more specialists to see and therapy to start. The genetic cancer doctor wanted to look more closely at Kennedy’s hemihypertrophy, and we still needed to see the orthopedic surgeon about her scoliosis and the ophthalmologist about her vision. Luckily, Kennedy was diagnosed with mild scoliosis and the orthopedic surgeon did not believe it was any cause for concern. Remember that bulge in Kennedy’s abdomen that also contributed to her asymmetrical appearance? Scoliosis can cause the abdomen to appear like it’s bulging out due to the curve of the back, so we were slowly starting to find out that Kennedy is really not asymmetrical. Kennedy’s eyes are also healthy. The ophthalmologist could tell she couldn’t track toys but said it was likely due to the infantile spasms, which causes vision to be delayed. Although the genetic cancer doctor did not give us any more input regarding hemihypertrophy (still on the fence about it), she was very helpful in leading us to the cause of her infantile spasms. She recommended a whole genetic exome screening with a chromosome microarray (the CMA). It was her opinion that Kennedy may have some genetic disorder not related specifically to her brain. In other words, because all her neuro-genetic testing came back clear, we had to go bigger. However, she, as a genetic cancer doctor could not order it, so we were sent back to our original geneticist who ordered all of the genetic testing.

 

On November 9, 2018 we met with our geneticist about Kennedy’s genetic results. Over the phone prior to our visit, we were told that she had a tetrasomy duplication (4 copies) of the 15q chromosome. We obviously had no idea what that was so we met with her in person, and she tried to explain the syndrome as best as possible. She even gave us a packet, which really just irritated my husband. Really? All you have on this is a few sheets of paper? He was definitely frustrated after leaving the genetics appointment because, up until this point, he had remained very positive that we would figure out what was wrong with Kennedy and that one day, she would be cured, healthy, and able to live a normal life. The packet did not tell us much regarding what to expect because Dup15q is considered rare and Texas Children’s did not have much research on it (although definitely not as rare as some other chromosome syndromes, there are only around 7,000 reported cases worldwide; however, with genetic testing becoming more widely available, we now believe this number may be quite low).

 

Here is what we found out through the packet:  The most common characteristics of people with Dup15q syndrome are seizures/infantile spasms, low muscle tone, slight physical deformities, scoliosis, developmental delay and autism. Kennedy had experienced all but one of those (and now, all of them, because she was recently diagnosed with autism). WE HAD AN ANSWER! When most parents of special needs children receive their official diagnosis, they feel sad, overwhelmed, angry, helpless, etc. I FELT RELIEVED. That was my first emotion. Relief. WE HAD AN ANSWER! We had been on a horrible, emotionally-draining roller coaster and living out a nightmare with NO ANSWERS. It was brutal. Did I do something wrong when I was pregnant? Did labor cause this? Did I accidentally expose her to something that caused seizures in babies? The questions that go through your head when you don’t know are brutal and agonizing, and as a Type A personality, the not knowing, for me, was so much worse. I read on some blogs about infantile spasms that husbands/fathers were placing the blame on the mother, saying horrible things about what she did or did not do during pregnancy. Jason would have NEVER done that to me, and I honestly believe that those thoughts never crossed his mind. We were both heartbroken, wanted answers and leaned on each other. We never blamed each other. People were also trying to blame vaccinations as the cause of her infantile spasms, something that I never believed and is not supported by science. I am 100% for giving vaccinations to children to stop the spread of horribly, infectious diseases, and you will never convince me otherwise. No, it was nothing we did or did not do. Kennedy’s tetrasomy duplication of the 15q chromosome was entirely random (Jason and I are not carriers), and it happened at conception. The diagnosis also ruled out hemihypertrophy. Kennedy does not have a 5% chance of developing kidney or liver tumors that are typically cancerous.

 

Because the packet regarding Dup15q was kind of a joke, momma-attorney went to work. I found everything available regarding Dup15q syndrome. The most helpful was the Dup15q Alliance and its Facebook page. I was instantly given access to a plethora of information and connected with other parents of children with Dup15q syndrome. I reached out to one of the mothers of a little boy, who was 6 at the time, because I saw that she lived near Houston and had three other children, two of which came after her Dup15q child. For some reason, that gave me a lot of comfort. I wanted to talk with, and possibly meet, a mother that not only had other children who were not special needs, but a family that decided to have more children after going through the emotional roller coaster that I know they must have experienced with their duper (short for a child diagnosed with Dup15q). The mother, Adrienne, agreed to meet with Jason and me, and we set up a dinner. Her husband, Ben, could not join us that night but we soon met him as well. Based on all my research, I knew Kennedy would struggle cognitively throughout her life, but I wasn’t sure about the severity or if she would struggle as much physically. The best comparison Adrienne gave us for our dupers was Down syndrome. There are many different abilities of children and adults with Down syndrome but overall, their cognitive ability will not reach that of a typical adult. For dupers, their cognitive ability may max out anywhere from 8 to 14 years old. So, although we are not certain of Kennedy’s future and her abilities, we do know that she will need our help (or an aid’s help) for the rest of her life.

 

At the time, I think this hit Jason the hardest. I can count on one hand the number of times I have seen him cry and this was one of them. He was devastated. We hardly spoke driving home from the dinner with Adrienne. It was not as much of a shock to me because I had read a lot about other dupers, but it was definitely an emotional turning point. We were obviously wanting better news, but once we definitively heard it from another parent, it was easier to move forward. Even today, now that we know, for the most part, what to expect as far as Kennedy’s abilities long-term, it is easier to cope. At times. There are days when we both struggle. As a parent, you want the best possible life for your child. Sometimes you even lose yourself because you put all your effort into making sure your children are taken care of, happy, good people, receiving the best education and reaching their utmost potential. So, when the realization hits again…whether it’s the second time, third time, twentieth time, one hundredth time… that no matter how hard we try, Kennedy’s “utmost potential” can never be that of a normal adult, we get sad. I will admit that even though I stay positive on the outside for everyone around me, there are not many days that go by where I don’t tear up thinking about Kennedy, or I don’t hold her and beg God to make her better. I mentioned that I felt relief when I found out about her chromosome disorder and that is 100% true, but that doesn’t mean I was happy about it. It gave me closure, and the dinner with Adrienne gave Jason and me more realistic expectations. We cannot treat Kennedy exactly like our other children. We have to rearrange our thinking about what school and therapies and home setting would benefit her the most, and we have to be mentally prepared to take care of her as an adult when cognitively she will be no older than a child. The future we may have been picturing for ourselves once our kids are grown is not the same anymore but that can happen to anyone and throughout all walks of life. As Jason says, she will be our forever roommate and travel companion. God also blessed us with two other beautiful girls that LOVE their sister, and a baby boy this past January, so Kennedy’s siblings better get ready! We will all have to help each other.

 

After the dinner with Adrienne, she and I became instant friends. In fact, our families have since met each other and our children were instant friends as well. We feel like family. Another God-send. Adrienne and Ben’s duper is Charles who is 7 years old and our duper is Kennedy who is 2 years old, so they are a great resource for us as far as what to expect each year. I hope we are able to help them through their journey as well even though we are relatively new to the duper world. 

 

SEIZURES SUCK

 

As of today, our family continues to struggle with Kennedy’s medical concerns. She is still very susceptible to seizures. I think we had a month or maybe 6 weeks of no spasms/seizures after we got the infantile spasms under control, but Kennedy started experiencing a different kind of seizures in December 2017. At first, I wasn’t entirely sure. They looked very different from the spasms; however, in my mommy heart, I knew. I knew she was having seizures again. But, just like with the infantile spasms, I wanted to be sure. In January 2018, we scheduled an overnight EEG because the type of seizures Kennedy was experiencing do not happen near as frequently as infantile spasms. Luckily, at the January 2018 EEG, they caught her having these types of seizures, which are called focal seizures and are apparently the “better” kind of seizures to have, but we still needed to stop them or at least control them. I am still unsure about all of the different types of seizures, and I will NOT pretend to know them all. So please, if you are reading this and are well versed in seizure types, I am very sorry for butchering this explanation. From what I understand, there are several different types of seizures and people call them all sorts of names. I was told that focal seizures occur in only one part, or one side, of the brain and for the most part, are localized to that specific area of the brain; whereas, generalized seizures occur all over the brain. Also, a seizure can start out as a focal seizure and then spread or turn into a generalized seizure. What occurs during the seizure also relates to different names for the seizure. For example, a focal seizure or generalized seizure can create a head drop, starring episode, jerks, shaking, twitching, falling, eyes rolled back, eye drops, stiffening of limbs, no movement, complete awareness, no awareness, etc. Based on these symptoms, people call them absence, atonic or drop attack, grand mal, infantile spasms, myoclonic, petit mal, tonic clonic, tonic or drop attack, complex partial, simple partial, etc. For me, getting wrapped up in the name of the seizure is not as important as knowing whether she is having focal seizures or generalized seizures. The latter being the scarier ones.

 

I began logging Kennedy’s seizures as much as possible. I realized it was important to know the frequency and type of seizures in order to get her on the correct medicine. How do I know when she is having one? You start to pick up on little cues, and it becomes very apparent once you have seen so many. Even our girls can usually detect when Kennedy is having a seizure. This used to break my heart, but now, I see it as helpful. For Kennedy, her eyes are “the tell”:  they freeze and look off to the side or they roll back into her head. Also, her body either stiffens or shakes/twitches, her heart rate increases and her face usually gets red. She has also experienced some head drops. Since her January 2018 EEG, I have kept a running log of every seizure that we’ve been able to catch. I log the date and what the seizure looks like and if there are several in a week or day, I sometimes note the times of them. I have also researched a lot of pharmaceutical drugs and natural remedies to help with Kennedy’s seizures. Kennedy was able to have some relief with the zonisamide medication, as I mentioned above, but in March 2018, when she was still experiencing focal seizures a couple times a week, we had a third neurologist recommend a new medication. Kennedy’s seizures actually picked up quite a bit in March 2018, so we introduced keppra, another type of pharmaceutical and slowly weened zonisamide. We also saw a dietitian and Kennedy is basically on a modified ketogenic diet, called the low-glycemic diet, which may help control her seizures as well. For the most part, the keppra and diet combination was working; however, each time Kennedy gets sick, she experiences an increase in seizures and, twice now, we’ve had to give her a regiment of valium for 10 days to settle her brain down. We have also witnessed a seizure that made her stop breathing and turn blue (likely a focal seizure that generalized). I pray those seizures are very few and far between, if not, never again.

 

Kennedy’s longest stretch of no seizures was the summer of 2018, and she met a lot of developmental milestones. She started sitting up more, crawling, pulling up, babbling, and walking much better in her walker. We were so thrilled. Every milestone Kennedy meets is a big achievement for her and such a blessing to us. When her seizures are controlled, we also see Kennedy smile and hear her laugh more, which is my ultimate goal. Her physical delays do not bother me much, and there is a possibility that Kennedy will be nonverbal. Several Dup15q kids are nonverbal. I just want her to be happy. Every smile I see on Kennedy’s face radiates so much joy in my heart.

 

Unfortunately, Kennedy’s seizures spiked again in late October 2018, and at times, we were seeing 10-12 seizures a day. From October 2018 to May 2019, Kennedy was still having seizures (2 on a “good” day and over 6 on a bad day), and we tried several things to stop them: new medicines, valium bridges, a steroid and CBD oil, which comes from the marijuana plant (with no THC-the stuff that can make you high). Since October 2018, it has basically been a continuous trial and error process. Every new medication takes TIME to know if it will work or not. If it doesn’t work, then it takes TIME to ween her off the drug that didn’t work. The concept of “IT TAKES TIME” is very frustrating for us. We want her seizures to STOP. We see decreases and that’s great but every day, from October to May, she was living with seizures, and it’s so hard to watch. Did I mention that SEIZURES SUCK?!!! Because they do. They are terrible to watch but even more terrible to see what they leave behind. The recent influx of seizures caused Kennedy to stop progressing with her development. It is like she hit a wall. Luckily, we have not seen much regression, but she also lost her smile. From October 2018-May 2019, I saw maybe two smiles on my baby’s face. Two. In seven months. Again, this KILLS ME THE MOST. I want to see her beautifully sweet smile. I want a lot of things for Kennedy, but if I could just keep her smiling, I wouldn’t want to break down and cry every minute of the day. Needless to say, the past seven months has been rough.

 

FOCUS ON THE BLESSINGS

 

As I mentioned, Kennedy sees a local neurologist at Texas Children’s Hospital but her primary neurologist is Dr. Ronald Thibert in Boston, Massachusetts. Dr. Thibert specializes in Dup15q children, and when we found out about the Dup15q clinics through Adrienne and the Dup15q Alliance, we immediately scheduled an appointment. Dr. Thibert has seen over a hundred dupers verses our Houston neurologist who has seen maybe one other besides Kennedy. The Dup15q clinic at Massachusetts General Hospital was one of the first clinics started by the Dup15q Alliance, which dedicates its time and money to not only establishing these clinics for our dupers but also researching epilepsy, autism, gene therapy, medications, clinical trials, and anything else that may benefit our Dup15q kids. We are forever grateful. I hold on to the belief and hope that in Kennedy’s lifetime gene therapy is a real possibility and that maybe it could be used to stop seizures and/or help with overall development for our dupers. But, of course, research and development is a costly enterprise, so our family will continue to support the Dup15q Alliance through monetary donations and by spreading awareness. Jason and I are blessed in that we have good health insurance, and we can afford trips to Boston, accessible chairs, strollers, etc., but there are many families that need more resources to help with their special needs children, which may mean governmental support and legislative change. Medicine and therapies are SO EXPENSIVE and some schools, insurances and even doctors turn away our children.

 

Although Kennedy is developing at a slow pace, in August 2018 (almost a year since her infantile spasms started) her Dup15q specialist was very impressed with her overall improvement in such a short period of time, especially considering how bad her infantile spasms were. Infantile spasms zap babies into basically newborns, so Kennedy had to “start over” at 7 months old, and every spike in seizures can put her back or cause her to stagnate. Currently, Kennedy is 2 years old but developmentally, she is more like an 8-9 month old. She continues to receive therapies (ABA, occupational therapy, physical therapy, speech therapy and feeding therapy) but we had to take a break from some in March 2019 due to her debilitating seizures. Kennedy’s seizures and her medicine were making her very lethargic, and it was hard for her to do too much in one day. From April 2018-April 2019, Kennedy attended a special needs school from 9am-2:30pm every day where they worked on ALL her milestones and abilities, at her pace. She started this school, The Arbor School, at 13 months old and it was another God-send. The Arbor School accepts special needs children as early as three months old and actually work with them as children with special needs. I could not find any other facility as suitable for what Kennedy needed at 13 months old, and we live in Houston, one of the largest cities in the United States.

 

Sadly, we have changed schools to have Kennedy attend an ABA facility closer to home. Kennedy received an autism diagnosis so our health insurance completely covers ABA therapy (Applied Behavior Analysis), which is used to teach children with autism. Was receiving that diagnosis hard? No, it was a blessing. Due to my significant research and the fact that Kennedy suffers from seizures, she is one of the Dup15q kids that is more severely affected by her chromosome disorder. We learned this early on, so when we realized that (1) our health insurance would completely cover ABA therapy for Kennedy, (2) ABA therapy has done wonders for many dupers; and (3) we had an incredible ABA facility 10 minutes from our home, I knew the autistic diagnosis would be a blessing. I was prepared going in to that appointment. Kennedy needed the autism diagnosis. We needed the autism diagnosis. It is a blessing. As I mentioned, Jason and I welcomed a baby boy in January, and with four kids now, the one hour, twice-a-day drive to The Arbor School was something we could not handle anymore. However, we will continue to support The Arbor School and will always be extremely grateful to every person who helped Kennedy during such a difficult time. The Arbor School is a HUGE contributing factor in Kennedy’s developmental success so far.

 

MOST RECENT HOSPITAL STAY

 

In May 2019, Kennedy’s seizures were getting worse. We had an overnight EEG at the end of April 2019 and each seizure she experienced during the test was a generalized seizure. The positive news from the EEG was finding out that Kennedy was not having bad seizures at night (when we can’t monitor her as much), and she was not having subclinical seizures (seizures we were not catching or silent seizures). This rapidly changed in mid-May. On May 1, we increased one of Kennedy’s medicines to see if we could get more control of her seizures (she was having at least 3 a day and most days, 6 or more). On May 5, we noticed Kennedy was very lethargic, could barely lift her head and had trouble eating or staying upright long enough to eat. It was concerning, but at first, I thought the increase in medication was making her overly groggy. However, after three full days of her being completely out of it, I told her neurologist and his office agreed that we should come back down to her original dose (what she was getting before we increased it on May 1). We were also seeing no relief from the seizures. In fact, Kennedy had 5 tonic clonics (formerly known as grand mals) from May 5 to May 9. Prior to this time, she had only experienced 2 tonic clonics in her lifetime and that was when she was sick in March 2019. Needless to say, we became very concerned. On Thursday, May 9, I had to take my four month old to his well-visit appointment and I brought Kennedy along so that our pediatrician could examine her too. In addition to her being very lethargic, she was starting to drool more and not eating near as well. It was as if she was having trouble swallowing. Her pediatrician tested her for illness but everything came back normal. She was not sick so he advised me to take her to the ER. Her pediatrician was worried about dehydration and her overall demeanor. She did not look well. Luckily, I had a virtual visit scheduled with Kennedy’s neurologist in Boston that same day so I brought up my concerns with his office as well. They agreed that Kennedy should go to the ER and check everything from dehydration to constipation to seizure activity. I called Jason and relayed what the doctors recommended and started making plans for my other children. I packed an overnight bag for Jason and me just in case (and maybe threw in some extra clothes). My mommy’s intuition was in high gear.

 

Once Jason and I got Kennedy to the ER, they ran a bunch of tests to see what was making Kennedy so lethargic. She was constipated so they treated her for that but otherwise, all her tests were coming back normal. At this point, I was convinced it was seizure related, and we were admitted around 11pm as a neurological case so that Kennedy could be hooked up to an EEG the following day. In addition to Kennedy having her more typical seizures that day and the 2-3 days leading up to this ER visit, Kennedy was doing some jerking movements that concerned me. I brought it up to everyone who came into her room: nurses, doctors, and any staff that would listen. I slept with Kennedy in her hospital bed that night and she had five tonic clonics: at 1:30am, 4am, 5am, 6:40am and 8:08am. I was able to video two of them. Luckily, each one only lasted about 30 seconds, but they are scary to witness. If you have seen a seizure in a movie, the person’s whole body shakes, the eyes are rolled back and the mouth and eyes seem to violently twitch. Those are grand mals or tonic clonics. Most seizures do not look like that because for cinematic effect, they tend to show the “worst kind”. The five that Kennedy experienced when I was laying with her looked exactly like a “movie seizure”, and five tonic clonics in a row is never a good sign. I remember thinking I was losing her… am I watching my baby die? It was not a good morning. I had little hope.

 

Unfortunately, we were on the pulmonary floor at Texas Children’s Hospital because the neurology floor was full, so Kennedy was one of the last patients the neurology team saw during their rounds. The morning is one big fog because I was physically and emotionally exhausted, but I remember telling the nurse and the resident neurologist that I thought her case was more of an emergency than they were making it. Once the neurology team came in, I gave a very long history of Kennedy’s seizures and why we came to the ER. As I was talking and during the consultation with the attending physician and his entire team, Kennedy was doing the jerking movements that I had seen for a few days. Once the consultation was over, the attending physician explained that they would eventually get Kennedy hooked up to an EEG to determine what was going on (and maybe increase one of her medications…). There was zero urgency in his tone or plan. At that moment, the nurse from Boston called wanting an update on Kennedy. As I was on the phone with her, one of the doctors from the neurology team came back in our room and was explaining something to Jason. I saw an overwhelmed look on his face so I mouthed what was happening, and he said they wanted to administer a rescue drug. I immediately hung up with Boston to get the details. Sure enough, one of the neurologists from the team stopped the “plan” and voiced her concerns that Kennedy was having continuous clinical seizures and possibly subclinical seizures. Her recommendation was to administer a very large dose of a rescue drug. In order to do so, the rapid response team had to come in because Kennedy could lose her airway and they needed to be ready to perform a tracheotomy if that happened. All of this was told to us in a matter of 3 minutes and 5 minutes later the rapid response team was in our room and the rescue drug was being put in her IV. There was no time to question. No time to panic. No time to cry. We just watched and prayed she would not lose her airway.

 

Kennedy handled the rescue drug fine. Praise God! But, they had to transfer us to pediatric ICU to monitor her for the next few days. She would also be immediately hooked up to an EEG. Although her body handled the rescue drug fine, Kennedy’s EEG revealed epileptic spikes every second and she was still doing the jerking movements, i.e., Kennedy’s brain could not stop seizing even after a very large dose of an anti-epileptic drug. I think I need to reiterate what was happening: Kennedy becoming lethargic and almost non-responsive to her surroundings was due to the electronic signals in her brain spiking every second, in a bad way. Her epilepsy was out of control, and they needed to administer another rescue drug. This time, valporic acid was used (another type of anti-epileptic drug), and I truly believe that saved her life. We were in the hospital from May 9-May 15 and her EEG continued to get better and Kennedy slowly started turning a corner. We did not witness any more seizures. As of today, we have had seizure control since we left the hospital. YES! It’s hard for me to even share this WONDERFUL NEWS because I know there is always a possibility that I will see one tonight, tomorrow, in a week, or in an hour. But, I’ve waited SO LONG to be able to type “we have seizure control”, so I’m thankful to share. Focus on the blessings. Be thankful for every answer to every prayer.

 

The doctor’s name was Kristen Fisher, a medical resident in training that works with Dr. Diaz-Medina, Kennedy’s local neurologist at Texas Children’s Hospital. I truly believe Dr. Fisher saved Kennedy’s life. The neurology team was walking away and she came back. She believed me when I said, “I think those jerks are seizures”; “Kennedy has never had five tonic clonics in a row”; “I don’t think she is fully coming out of these seizures”. A medical resident in training made the call and we are forever grateful. I thanked her later and through tears I said point blank, “I think you saved her life”. We hugged.

 

Today, it’s been about 6 weeks of no seizures, which is AMAZING! However, it has not been an easy road. We are still experimenting with the right combination of medicines that will keep her seizures at bay and allow her to function day-to-day. Two of the medicines we tried to increase to a therapeutic dose caused some pretty bad side effects: irritability and insomnia. It is a daily struggle but we have seizure control for the first time in 9-10 months. AND….Kennedy is SMILING AGAIN!!!! She is LAUGHING and ENGAGING. She is showing an interest in people again and actually playing with toys for the first time ever. It’s truly amazing. And, if we can keep her seizures under control, I believe Kennedy’s development will progress a lot in the next year. As I mentioned before, our eternal struggle with Kennedy is battling her epilepsy. We will never be “in the clear”. She has a very bad case of epilepsy, to say the least, so seizures are always a possibility. I have come to understand that this is our reality and our new normal. Our most recent hospital stay is more likely than not the first of many to come. But, I will continue to have faith, pray for healing and focus on the blessings. My new motto: “prepare for the worst, hope for the best”.

 

THE FIGHT

 

I am often asked “How do I do it?” Or told, “I don’t know how you do it”. Believe me, I asked and said these same things when I met, or heard about, anyone with a special needs child or a child that suffers from severe illness. My answer is typically, “one day at a time”, and that’s SO TRUE, but I also want to express here that YOU JUST DO IT. You go through the motions and you FIGHT. It’s hard and I wouldn’t wish it on my worst enemy, but it’s not something that a loving parent couldn’t or wouldn’t do for his or her child. To see your child hurting or so “different” that she can’t do things typical children her age are doing is an inexplicable pain, but every day is a new day, and you do what you have to do to make your child’s life as good as it can be. Do I have bad days? YES!! More than I care to admit. There has been days where I could not possibly record another seizure in my iPhone notes so I didn’t. I would wait and record it the next day, remembering back to the number she had. There are days I literally can’t be around her as much as I like because I’m too sad, and I’m afraid I am not being a good mother to my other children. That last sentence was hard to type and it’s hard to read because it’s SO TRUE and makes me tear up.

 

I think the hardest part for me is that no matter how hard I try, I cannot completely fix her. Unless there is a miraculous gene therapy or chromosome transplant that can outright cure her, she will always have Dup15q. It’s literally in her DNA, and we were unable to control her seizures for almost a year of her life, and even though we have some seizure control now, that doesn’t mean its forever. I say “some seizure control” because Kennedy’s EEG will never be “normal”. She will likely always have epileptic spikes, which can trigger seizures, especially if she gets a virus or an infection, so as I mentioned before, it is more likely than not that we will suffer through another bout with seizures at another time. Kennedy is also more at risk for SUDEP (Sudden Unexpected Death in Epilepsy) than most dupers because she has been diagnosed with Lennox-Gastaut Syndrome (LGS), which is a severe form of epilepsy where affected children experience several different types of seizures. The hardest part about SUDEP is that it can happen at night from “silent seizures” so although we have monitors on Kennedy, her brain still may seize without us knowing. Seizures are the number one thing we are fighting and might always fight. As I mentioned, seizures also affect her development and her personality so our goal for her life is to try and find a balance between controlling her seizures, medicating her and pushing her through therapies. Currently, Kennedy is on four medications and although we are trying to ween one, we have to first, increase another. I am constantly on the phone with her doctors and pharmacies regarding proper doses, side effects, proper compounding (she cannot swallow pills so we have to do liquid medicine but she cannot have sugar due to her diet), etc. If it sounds heart-wrenching and exhausting, IT IS. But, I will do whatever it takes. She is our baby.

 

HOLDING ON TO MY FAITH

 

I believe God revealed His plan for me through very subtle clues. As a child, I remember volunteering with my mom at a program for special needs kids, and I was never bothered to be around children that looked or acted different than me. I have always had a heart for people that need extra help. I served as President of Ms. Wheelchair Texas a few years ago and met some remarkable women that never let their disabilities slow them down or define them. My husband’s best friend from childhood married someone that I became instant friends with and their first child together was diagnosed with cerebral palsy around 18 months of age. I remember being overwhelmed with grief when she told me the diagnosis, but I also remember saying, “God chose the best parents in the world to raise him”. They have been a huge support system for us and seeing how they have managed over the past 6 years has been extremely helpful. Almost like, I think we can do this too! Lastly, when I found out I was pregnant with Kennedy (like the very first week), I had a mother randomly strike up a conversation with me at my oldest daughter’s acting class about her son with Down syndrome. She also had a daughter in the class and her son, with Down syndrome, was supposed to attend that day as well (although he was older, they let him attend with his younger sister since he was cognitively on the same level). We talked for a solid thirty minutes, and I remember her saying, “my husband and I always wanted to raise a child with special needs and when we found out our son had Down syndrome, we felt so much joy to be able to raise him.” I remember thinking that was SO WEIRD. Why would anyone truly want a child to have Down syndrome? But that’s not what she meant. She was very genuine, and now that I am a mother to a child with special needs, I understand what she really meant. She felt like it was an honor to raise her son with Down syndrome. Because for reasons I will not begin to understand or question too much, God allows people to be born with disabilities, so for however long He decides Kennedy to be on this Earth, Jason and I are her protector, and it takes very strong parents with a very strong relationship to raise her. Maybe it’s slightly narcissistic but God chose Jason and me. He must think pretty highly of us. Towards the end of the acting class that her son was supposed to be in, the boy’s father came in holding him. I would not know the significance of that sight until later, but I could not stop staring. Their son was 8 years old and too tired from the day at school to attend class. His body looked very limp, but his dad had a huge smile on his face as he just sat there and closely held him. I still remember the love that radiated from his face when he looked at his son. It’s the same face I see on Jason every night when he holds Kennedy. It’s amazing the people that God puts into your life, even for a fleeting moment.

 

As I wrap up this portion of my “Kennedy Story” which has taken me two years to write, I will continue to document Kennedy’s life and our family’s life as we raise a child with Dup15q syndrome. I have always wanted to be an author so maybe this is the first step to achieving a lifelong goal. Because no matter how much I have learned right now, I know I will continue to learn SO MUCH MORE.

 

WHAT I’VE LEARNED SO FAR – THE HIGHLIGHTS

 

Don’t give up. This story started out as a road map to Kennedy’s diagnosis. I knew something was wrong and I did not give up trying to find answers. I fought our insurance company; I fought for appointments; I fought for call-backs; I voiced my concerns over and over again. I still do all of these things and so much more. I read as much as I possibly can on therapies and how to improve Kennedy’s overall quality of life. I read as much as I possibly can on epilepsy and treatments and monitors. If you ever find yourself in a similar position with one of your children, DO NOT GIVE UP. Your instinct is right and your child needs you to fight. Doctors have thousands of patients, so it’s up to you. YOU have to be your child’s #1 advocate and that will never change.

 

As a parent, you can only do so much. You must reach out to family and friends when you need it, and you must accept the help. EVERYONE wants to help but they don’t know how. Let them know. Believe me, this is so hard for me to do, but I am working on it. You also have to learn to trust your doctors, even though that can sometimes be the most frustrating part. I am not an expert on Dup15q or epilepsy. Regardless of how much I research, our doctors have researched more. I am an attorney, so I know what it feels like when people who did not go to law school try to challenge me on legal matters. Google is great but doctors have 4 years of medical school, 3-7 years of residency, and most have practiced for several years in their respective fields, so as a general rule, doctors will know more about treatments than lay people. That being said, you also have to trust your gut as the parent and find a mental “happy place” when talking to doctors that do not quite understand what your child (or you) suffers from. Most neurologists do not have a child suffering from seizures, so when they try to relate or calm you down, it’s hard to keep trusting them. Believe me, I get it. I remember my response to a nurse that tried to lecture me about not administering Kennedy’s rescue medicine unless a seizure lasted over 5 minutes:  “even if it seems like she is not breathing, she is probably getting oxygen to her brain,” the nurse said very studious-like. I responded, “Have you ever watched your child seize and turn blue? I am not waiting 5 minutes.” Interestingly for us, the neurologist we see in Boston does have a child with a duplication of the 15th chromosome, so he actually understands what our day-to-day life is like. Again, Dr. Thibert and the Dup15q clinics are a HUGE blessing to us.

 

Take time to cry, then move on. When I found out that our friend’s little boy had cerebral palsy, I read an incredible article on Facebook. It was about another mother’s reaction when she found out her son had cerebral palsy. She allowed herself to mourn. To break down and really cry about it. She mourned the loss of that “normal” child she was expecting to raise. She let herself be angry and sad as though she had experienced a loss. But then, she moved on. She accepted her fate to raise a child with special needs and rose to the challenge. I cried reading that article and thinking about my friends and my own children. At the time, I only had Tatum, and I was pregnant with Piper. I thought it was something I could never bare to handle:  hearing that your child has cerebral palsy or some other disability or illness. Yet, here I am living it. Every day. Once we were certain about Kennedy’s diagnosis, I remembered that article and allowed myself to mourn the loss of the Kennedy I was expecting to raise. When she was born I was so excited to see Tatum and Piper interact with their baby sister, but it never really came. They love her and want to hold her and kiss her all the time, but Kennedy gives very little back. It breaks my heart to see them try so hard to engage with her. So, I let myself be sad and miss that Kennedy, but then I moved on. There are times I see parents holding babies not more than 3 months old, and those babies are smiling and looking around and holding up their heads, and I get sad. I never had that with Kennedy. Her first year of life was nowhere near the first year of a typical baby’s life. There are also times I see children Kennedy’s age that are running around, talking, laughing, crying and reaching out to their parents, and I am jealous. I want that so badly for Kennedy I could scream, but my friend whose son has cerebral palsy recently reminded me that Kennedy doesn’t know her life is so much harder and different than a typical child’s life at her age. Her “normal” is having seizures and struggling to sit up and getting off balance when she stands and not being able to communicate. That is her normal. Maybe one day I’ll have to deal with her understanding that she’s different but, right now, this is the only life she knows, and I need to stop feeling sorry for her so much and just move on. I sometimes question whether she feels the love we have for her, but I have faith that she does. She has to. Because God gave us the incredible gift of love, and God made Kennedy. Love is an inexplicable emotion that I believe each person experiences in a different way yet we all somehow know, its love.

 

You must have faith, focus on love and count your blessings. Without my faith in Jesus, I would be lost, defeated and angry all the time. I still get angry and feel defeated. I still question why we were chosen to raise a child with special needs. I also question why there are special needs children in general and why do children come down with severe illnesses that sometimes take their lives at an early age? But dwelling on these questions and concerns will never allow you to move forward and stay positive for your child or the people around you, so instead I choose to dwell on faith, hope and love. We LOVE Kennedy with all our hearts. We do not love our “typical” children any more than we love her, and we feel blessed to be Kennedy’s parents. You have to revel in the blessings and the answer to each prayer, no matter how many other prayers you still need answered. I caught myself continually praying for help, healing and understanding, but I also need to say prayers of thanks. We are grateful for each day with Kennedy. She is a very sweet child with a calm temperament and endearing smile. Her squeals and cuddles melt your heart. We have learned a lot from Kennedy, and I know she will continue to teach our family about unconditional love, acceptance, perseverance, determination, patience and thankfulness. God has blessed us with four children and our newest baby boy, Jase, smiles ALL THE TIME. I thank God for that every day. He knew my mommy heart needed a smiley baby.

 

Believe. The hashtag for Dup15q Alliance is #believe. We will continue to believe that Kennedy will get better; that one day she will be seizure free; that she will live a happy and fulfilled life; that she will touch others’ lives; that perhaps, one day, there will be a cure. I also BELIEVE in Jesus Christ and that our time here on Earth is so minuscule compared to our eternal life with Him in a place where Kennedy will ALWAYS SMILE. We ALL will.

 

I will never again take for granted a baby’s smile.

 


© Copyright 2019 Carly Maderer. All rights reserved.

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