Guillain-Barré Syndrome & Chronic Inflammatory Demyelinating Polyradiculoneuropathy: Judy’s Story

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Status: Finished  |  Genre: Non-Fiction  |  House: Booksie Classic

This is a research paper that I wrote for my Honor's Project in Anatomy & Physiology II. This is also the true account of what happened when my son, Judah, was diagnosed with CIDP, and what happened to us day by day. I found writing this essay to be cathartic, and it helped me to sort out what happened in our lives. I wanted to write this essay for the common man, with limited jargon included. The original essay is a word document, with many pictures and diagrams. If you would like to read the original document, I would be happy to provide it to you. If you or a loved one are going through the scary process of a diagnosis of either GBS or CIDP, I want you to know that you are not alone. Hope is alive and will get you through the darkest days. You are strong, courageous, and there is hope for you. Don't give up.

 Guillain-Barré Syndrome & Chronic Inflammatory Demyelinating Polyradiculoneuropathy

Judy’s Story

Glinda Bustamante

Lone Star Community College

January-April 2018

Mrs. Mary Susan Allen

With Love

An exploratory glimpse into the life of a child diagnosed with Guillain-Barré Syndrome & subsequently, Chronic Inflammatory Demyelinating Polyradiculoneuropathy (CIDP)

*Names have been changed to protect the innocent

Today we will explore and chronicle to the best of our ability, the scope and nature of an autoimmune disease by the name of Guillain-Barré Syndrome. We will also evaluate the experiences of our precious patient, Judy* and her unique journey from acute onset of symptoms, the parameters of diagnostic testing performed on her, treatments, therapies, and finally, the re-diagnosis of Chronic Inflammatory Demyelinating Polyradiculoneuropathy, or CIDP for short.

The purpose of this essay is to hopefully contribute insight and awareness to the body of work currently available to the families and friends, treating physicians and support groups of those afflicted with either Guillain-Barré Syndrome or CIDP. Due to the rarity of both conditions, the burden of fundraising and motivation to develop better treatments for sufferers is sparse at best.

Please consider participating in the GBS/CIDP [1]Walk & Roll! to support medical research by volunteering or by financially sponsoring a “Walk-&-Roller” (Rock & Roller!). A link for more information about the Walk & Roll can be found in the bibliography or by simply asking the author, who I have a good feeling would be overjoyed to help you with. However, she may compel you to eat an ungodly amount of tamales with her while watching Golden Girls reruns, so don’t say you weren’t warned.

Our patient, Judy, is 4 years old. Her parents have brought Judy into the emergency room worried to death. They notify the doctor on call that Judy has been falling to the ground when walking for the last few days for no observable reason. Her balance has declined. She complains of numbness in her hands and feet. Judy has suddenly become so weak that she cannot lift the toilet seat to use the commode. She also complains that her arms, legs, and hands feel tired.

Before arriving at the hospital, Judy had fallen and could not raise herself up off the floor despite repeated attempts. Previously, Judy had enjoyed a completely healthy life. She was athletic, energetic, and strong enough to tackle her older brother and sister when wrestling. Her parents are flabbergasted. So are the medical staff at the emergency room. Let’s begin our journey through the enchanted forest of medical mystery. Remember to follow the yellow brick road. Glinda the Good witch insists.

It may look scary, but you are never alone!

***

Day One: Panic and Confusion

On the morning of Feb 3rd, 2016, Judy Horelica arrives at the emergency room in a small suburb of Houston, Texas where she lives with her family. Her parents desperately notify the staff that their daughter has been falling down several times a day for the last few days. Judy has also been walking strangely, bow-legged almost. When Judy falls to the ground, she struggles to return to a standing position. She “walks” her hands up her legs, using her arms for support to push her upper body erect. Judy’s mother has taken to carrying Judy around the house. They are brought to a triage room immediately. The first round of pathological catechism commences.

The staff informs Judy’s parents that what Judy is doing is referred to as the “Gower’s” maneuver[2]. They explain that this is a sign that Judy’s proximal muscles are weak and that she is unable to harness the strength to stand without the aid of her upper body. What could be causing Judy’s weakness is an enigma to everyone at this point. The staff asks Judy to stand from a sitting position on the floor of the triage several times. The expressions on the faces of the staff appear as if they’d just seen the ghost of Elvis Presley in a hula-skirt juggling flaming pineapple. Judy’s parents’ faces are drenched in tears and snot.

Observe the Gower’s severity scale below.

 

Points

 

Maneuvers

0 point

 

Normal

1 point

 

Prolonged or strained rise without support

2 points

 

One hand to thigh or one hand to the floor

3 points

 

Prone crawl position, both hands on floor

4 points

 

Prone crawl position, both hands on floor, prolonged

5 points

 

Prone crawl position, one hand on thigh

6 points

 

Prone crawl position, one hand on thigh, prolonged

7 points

 

Prone crawl position, both hands on thigh

8 points

 

Prone crawl position, multiple hands on thigh

9 points

 

Arises only with the aid of an object to lean on

10 points

 

Is unable to arise

A normal value on the Gower’s severity scale is 0. Judy’s initial score is 9. Within six hours, her score rises to 10. Not one person can offer any concrete explanation, but not for lack of trying. Time is of the essence. An MRI is ordered for Judy, but first, the doctor on call would like to personally examine her.

Dr. Lotze examines Judy closely. He quickly discovers that Judy does not have deep tendon reflexes. On the deep tendon reflex scale, a value of 2 is normal[3]. Judy’s grade is 0. The doctor refers to this condition as Hyporeflexia[4], which he says is abnormal in all cases. When he asks Judy to walk from one part of the room to the other, Judy attempts to use the furniture in the room to help hold herself up, going from one piece to another, using her arms to drag the rest of her body as best she can. She smiles the entire time, lighting up the room; despite the horrific tension about the place. The doctor tells her to walk without holding onto anything. Judy immediately falls to the ground and begins to cry.

The doctor asks Judy’s parents if there is anyone in the family in a wheelchair or who is afflicted with multiple sclerosis or muscular dystrophy. Terrified by the motion, they reply in the negative. The doctor orders that Judy not be given anything to eat or drink besides water on the grounds that further diagnostic testing will be necessary. Two hours later, a nuclear magnetic resonance imaging scan is performed. Four hours later the doctor notifies Judy’s parents that the results are inconclusive and that nothing categorical stands out. They all know that this means nothing. But hope is in the air.

After 16 hours of sleepless anxiety, the doctor on call recognizes that Judy cannot be properly cared for or treated at the small hospital in which they were. An ambulance is on its way to bring Judy and her mother to Texas Children’s Hospital, which they are told is better equipped to diagnose and treat whatsoever is plaguing Judy. Grief-stricken, they board the ambulance at 2 a.m. and race to Texas Children’s Hospital in downtown Houston, Texas.

Day 2: Investigation and Benediction

Upon arrival, Judy is admitted immediately. She is moved into a room upstairs attended to by the pediatric neurology staff. Diagnostic testing is what everyone is interested in. First, the pediatric neurologist, Dr. Freidrick, orders a lumbar puncture. Judy had been prepped for this procedure by fasting.

Judy cries because she is scared, tired, and hungry. Judy is intravenously administered Propofol, which instantly renders her unconscious. The staff roll Judy onto her side in the bed, placing adhesive tape across her spine in the lumbar region. A gargantuan needle is inserted, sucking out cerebrospinal fluid from Judy’s vertebral column. Once collected, the sample will be sent to the lab to be analyzed. The doctor bandages the skin where the needle was inserted. Judy’s mother is weeping at this point. Compassionate nurses console her.

If Dr. Freidrick’s suspicions are correct, Judy could be suffering from Guillain-Barré Syndrome. Guillain-Barré Syndrome[5] is a disease in which the body’s own immune system attacks a part of the peripheral nervous system. Most, but not all the symptoms that Judy is experiencing line up with this diagnosis so far. Judy is taken to a special room to recuperate from the anesthesia. Within an hour, Judy is awake and given juice and cookies.

She is happy to be eating and remembers nothing of the procedure, as Propofol[6] is prone to cause temporary amnesia. She complains that her back hurts where the needle had been. Judy’s mother decides to treat her to whatever in the world she wants to eat for dinner, no holds barred. Judy decides on macaroni and cheese with chocolate milk. With a Butterfinger bar for dessert. Judy deserves it.

Day 3: Anguish and Hope

The results of the lumbar puncture hit town before sunrise. Dr. Freidrick tells Judy’s mother that the protein levels[7] in the cerebrospinal fluid drawn from sufferers of Guillain-Barré Syndrome tend to be elevated, but not always. Judy’s protein levels come back within the normal range for her size and age.[8] Despite this finding, Dr. Freidrick is confident that Judy has been stricken with GBS. She orders high dose Intravenous Immunoglobulin,[9] for a period of five days. The precise mechanism of action that IVIG exerts in not fully understood at present, but research is ongoing.

Dr. Freidrick also orders physical and occupational therapy for Judy. Treatment will begin after an initial administration of Diphenhydramine intravenously to lessen the risk of an allergic reaction to the IVIG. There is nothing left to do but hope and pray. The diphenhydramine makes Judy sleepy. She is snoring by the time the nurse switches the IV line from the empty diphenhydramine bag to a full bag of clear, watery-looking IVIG. Drip, drip, drip, and five hours later, the bag is empty. Judy is still out cold in dreamland, dancing in a world where pain does not exist, amongst pillowy clouds of cotton candy.

Observe the diagram below detailing the mechanism of action of IVIG[10]

Immunomodulatory actions of intravenous immunoglobulin. Intravenous immunoglobulin (IVIG), may for the purposes of understanding, be thought of as four separate components: (1) actions mediated by the variable regions F(ab?)2, (2) actions of Fc region on a range of Fc receptors (FcR), (3) actions mediated by complement binding within the Fc fragment and (4) immunomodulatory substances other than antibody in the IVIG preparations. It should be remembered that not all the potential mechanisms of action fit perfectly into the groupings and that several mechanisms may act concurrently (TCR, T cell receptor; ADCC, antibody-dependent cellular cytotoxicity; DC, dendritic cell). The mechanisms of action of therapeutic immunoglobulin are complex, but over recent years important advances in understanding have been made. The predominant mechanism operating in a particular situation appears to depend on both the immunoglobulin dose and the pathogenesis of the disease under consideration.

Day 4: Busy as a Bee

Texas Children’s Hospital is a teaching hospital for Baylor College of Medicine.[11] Groups of medical students visit patients and are taught various procedures while interacting with the children admitted to the hospital. Together, they brainstorm and receive hands-on experience and valuable practice for their chosen fields. A group of medical students is introduced to Judy by Dr. Freidrick. The students take turns asking Judy and her mother questions, having Judy squeeze their fingers to test for strength, and knocking her little knees with miniature hammers probing for reflexes. Again, Judy’s reflexes are absent. Judy is as loquacious as ever, even telling jokes that make everyone laugh. So far, it is too early to tell if the IVIG is working. With bated breath, the congregation awaits an outcome or improvement of any measurable sort.

After the medical students say goodbye for the day, a physical therapist visits and introduces herself to Judy. She invites Judy to go for a ride in a bright yellow beep-beep, partially for fun and primarily to ensure that Judy is given an opportunity to stretch and strengthen her muscles so that she does not weaken. She assesses Judy’s abilities and tailors a customized program designed to progressively assist Judy in her healing.

Afterwards, an occupational therapist visits. She works with Judy on fine motor skills and challenges her to use her hands in coordination to button large buttons, zip colorful zippers, place dried kidney beans inside holes on blocks, draw with a pencil, and stretch rubber bands. Judy has fun and tries her best, but fails nearly every demand.

Night has fallen, and it is time for Judy’s second administration of Diphenhydramine and IVIG. When the nurse begins the first IV bag, Judy screams in pain. The skin on her arm near the IV is red and swollen. The nurse announces that Judy’s vein has blown. She removes the IV and cleanses the area. Judy’s veins are tiny, and the last few days have taken their toll on her vascular system.

The nurse attempts to find a willing vein in Judy’s other arm, which immediately blows as well. Judy does not like being stabbed with needles repeatedly. Understandably, she is sobbing in pain. Under the pressure of the circumstances, the nurse decides to call in a professional IV technician who is equipped with a special LED light[12] that will help find a vein that is strong enough to receive an IV. She’s a busy woman, so it takes about an hour for the IV tech to arrive. Once the new IV is placed, it’s all smooth sailing and Judy is asleep before Barney the purple dinosaur reruns for the 500th time. She did not miss anything.

Day 5: Miracles & Rainbows

Judy is wide awake come morning. She is bouncing all around in her bed, testing the limits of her IV line. Her mother is overjoyed. Judy is able to lift herself up and throw a Koosh ball back and forth with her Dad from the bed. Dr. Freidrick comes to visit and notices that Judy has grown noticeably stronger since the examination the previous day. Judy still does not register deep tendon reflexes, but no one seems to mind since she has made a considerable improvement.

When the physical therapist comes to visit, she is surprised by the rapid recovery that Judy has made. She is not at 100% yet, but she has made incredible strides. The IVIG appears to be working like magic. Everyone is excited for Judy. When the Baylor students arrive to check up on Judy, they are pleased with her progress.

Dr. Freidrick remarks that GBS is a monophasic[13] disease, ascending from the sole of the foot to the crown of the head. Monophasic conditions will present with an acute onset of symptoms, peak, and then gradually reside and will not repeat. This is great news for the family. This will all be behind them and they can move on. Since Judy is responding so well, she can be discharged at the end of the 5-day IVIG treatment.

Home sweet home is on its way.

Tonight’s treatment goes off without a hitch. The new IV line that was placed last night is standing strong. Judy falls asleep as the IVIG trickles. When Judy wakes up, it is as if she ate a giant can of Popeye’s spinach. Judy is Super Girl! She is bouncing up and down on her bed, walking around not using the furniture for support as much, asking to go push the ‘ol yellow beep-beep down the hallways. Now a new problem arises, containing Judy until the last IVIG treatments have been administered. A welcome problem indeed.

Day 6 & 7: Completion and Discharge

Judy grows stronger by the day. The last two treatments are a complete success. Judy is discharged with instructions to watch for any unusual signs or symptoms, but given a prognosis of permanent healing. Judy and her family bid a tearful adieu to all of the dedicated staff at Texas Children’s Hospital that helped their daughter through such a critical time in their lives.

The family returns home and informs all the neighbors how well Judy is doing. They throw a party and rent a bouncy house, which Judy jumps in for almost 10 hours straight. All is well and the days go by in blissful peace.

Day 16: One Step Forward, Three steps Back

A little over a week after returning home, Judy suddenly starts to walk bow-legged again. Her parents observe in disbelief. Judy also complains that she feels a burning type of pain in her legs and feet. She says, “My knees feel like they’re burning, but nothing is touching me!” Within 12 hours of the first symptom, Judy starts to fall down again. She is weak once more, just like the first time, but worse. Judy’s mother calls Dr. Freidrick. She instructs the family to bring Judy back to Texas Children’s Hospital. They pack a suitcase and are on the road again. Judy’s mother pushes her in a baby stroller, which Judy seems to enjoy.

Upon arrival, a smooth admission through the ER leads to admittance back into the very same room as last time. Everyone is befuddled about Judy’s return of symptoms. Dr. Freidrick concludes that Judy must be having a relapse of GBS. She recommends another 5-day course of high dose IVIG. Physical and Occupational therapy will be continued. She says that a relapse of GBS is extremely rare,[14] but can happen. Judy is unhappy to receive another IV line, but understands that it is the only way to get better and go back home.

Three days into the IVIG treatment, Judy makes smaller improvements, but not quite as dramatic as the first time. Today, Dr. Freidrick orders a Motor Nerve Conduction Velocity (MNCV)[15] experiment on Judy. Her results reveal that Judy has endured moderate nerve damage and expresses a delayed neuronal response to electrical stimuli.

Another lumbar puncture is ordered. The results are identical to the first. By the fifth IVIG treatment, Judy’s family is told once again that all is well, the GBS is gone, no further treatment is necessary. They are discharged and go home. Five days later, they return under the very same circumstances.

Day 25: Another relapse...?

Again, Judy has lost the ability to walk. Judy’s parents are at their wit’s end. Dr. Freidrick instructs them back to the hospital. Five more days of high dose IVIG are implemented. Results are nowhere near where they were three weeks ago. Hope has evaporated. Why is Judy experiencing another relapse? With GBS, this is unheard of.

Whispers of Chronic Inflammatory Demyelinating Polyradiculoneuropathy are in the air, but the doctors say that CIDP is even more rare[16] than GBS, with only 5-7 cases per year, per 100,000 adults in the U.S. (much less for children). They hesitate to diagnose Judy with this. CIDP[17] is considered the chronic ongoing form of GBS. Judy must technically be symptomatic for at least 8 weeks to be eligible for this diagnosis. Luckily, IVIG is the first-line treatment for both conditions. The only option at this point is to treat with high dose IVIG, and wait.

Frustration and desperation fill the hearts of everyone involved in Judy’s care. Judy is treated and discharged. This time, Dr. Freidrick adds corticosteroids,[18] (oral prednisolone to be precise), to Judy’s treatment regimen in hopes of reducing the action of Judy’s immune system and decreasing inflammation.

Within 2 days, Judy is unable to walk again. A fourth admittance to Texas Children’s Hospital is inescapable. This time, Dr. Freidrick makes the decision to re-diagnose Judy with CIDP. This is devastating for her family, but at least unrealistic expectations will not continue to shatter hope. Now they can properly develop a long-term care plan for Judy.

Aftermath

Judy is prescribed nine 50 mg. prednisolone tablets per month. She goes to physical and occupational therapy twice a week. She returns to the infusion center at Texas Children’s Hospital every two weeks to receive 4-hour IVIG infusions, more often if she needs it. Her care plan is more permanent than it would have been with Guillain-Barré Syndrome, but that’s okay.

Judy is fitted with customized pediatric braces and orthotics[19] to help stabilize and support her legs while walking. She uses a walker in physical therapy sessions. Weeks turn into months. Judy’s parents join a support group for their family and participate in the GBS/CIDP Walk & Roll to raise money for medical research. Judy earns $150 for the cause, and is arguably the cutest walk & roller in the joint. Life goes on, and everyone in the family adjusts to their new life coping with CIDP. They learn that they are not alone.

After eighteen months of treatment, Judy improves to the point that she no longer receives IVIG infusions. Steroids are discontinued. Judy’s braces are gathering dust in the closet, and have almost become completely forgotten. In Judy’s case, she achieved remission after 18 months. This is not always the outcome for every child.

The gratitude Judy’s family feels reduce them to tears on occasion. They will never forget the overwhelming support they received during the dark hours of their time of crisis. Please consider supporting GBS/CIDP medical research in any way that you can. Every contribution of time and resources is a precious gift that means so much to the families and loved ones of sufferers. Go out and make a difference in the lives of others today. Above all, never lose hope!

Written by: Glinda Bustamante

There’s no place like home!

 

References

  1. Walk & Roll for GBS-CIDP. (2018). Retrieved April 15, 2018, from https://www.gbs-cidp.org/volunteer/walk-and-roll/
  2.  Chang, R. F., & Mubarak, S. J. (2012, July). Pathomechanics of Gowers’ Sign: A Video Analysis of a Spectrum of Gowers’ Maneuvers. Retrieved April 15, 2018, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3369091/
  1. Walker, H. K. (1990, January 01). Deep Tendon Reflexes. Retrieved April 15, 2018, from https://www.ncbi.nlm.nih.gov/books/NBK396/
  2. Reflex, Abnormal - MeSH - NCBI. (n.d.). Retrieved April 15, 2018, from https://www.ncbi.nlm.nih.gov/mesh/?term=hyporeflexia
  3. Guillain-Barré Syndrome Fact Sheet. (n.d.). Retrieved April 15, 2018, from https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Guillain-Barré-Syndrome-Fact-Sheet
  4. A., R. (2006, March 01). Remarkable memory effects of Propofol | BJA: British Journal of Anesthesia | Oxford Academic. Retrieved April 16, 2018, from https://academic.oup.com/bja/article/96/3/289/325896
  5. DiCapua, D. B., Lakraj, A. A., Nowak, R. J., Robeson, K., Goldstein, J., & Patwa, H. (2015, December). Relationship Between Cerebrospinal Fluid Protein Levels and Electrophysiologic Abnormalities in Guillain-Barré Syndrome. Retrieved April 15, 2018, from https://www.ncbi.nlm.nih.gov/pubmed/26583489
  6. Shah, S. S., Ebberson, J., Kestenbaum, L. A., Hodinka, R. L., & Zorc, J. J. (2011, January). Age-Specific Reference Values for Cerebrospinal Fluid Protein Concentration in Neonates and Young Infants. Retrieved April 16, 2018, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2978786/
  7. Jacob, S., & Rajabally, Y. A. (2009, December). Relationship Between Cerebrospinal Fluid Protein Levels and Electrophysiologic Abnormalities in Guillain-Barré Syndrome. Retrieved April 15, 2018, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2811867/
  8. Jolles, S., Sewell, W., & Misbah, S. (2005, October). Clinical uses of intravenous immunoglobulin. Retrieved April 16, 2018, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1809480/
  9. Community Benefit Report. (n.d.). Retrieved April 15, 2018, from https://www.texaschildrens.org/about-us/community-benefit-report/education-and-research/graduate-medical-education
  10. Aulagnier, J., Hoc, C., Mathieu, E., Dreyfus, J. F., Fischler, M., & Guen, M. L. (2014). Efficacy of AccuVein to Facilitate Peripheral Intravenous Placement in Adults Presenting to an Emergency Department: A Randomized Clinical Trial. Academic Emergency Medicine,21(8
  11. Dimachkie, M. M., & Barohn, R. J. (2013, May). Guillain-Barré Syndrome and Variants. Retrieved April 15, 2018, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3939842/
  12. Ferguson, T. A., & Brown, M. J. (n.d.). Does Guillain-Barré Syndrome Recur Retrieved April 15, 2018, from http://www.gbsnz.org.nz/research_and_resources/does_guillain-barre_syndrome_recur
  13. Kang, J. H., Kim, H. J., & Lee, E. R. (2013, October). Electrophysiological Evaluation of Chronic Inflammatory Demyelinating Polyneuropathy and Charcot-Marie-Tooth Type 1: Dispersion and Correlation Analysis. Retrieved April 15, 2018, from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3820196/
  14. Lewis, R. A. (n.d.). Chronic Inflammatory Demyelinating Polyneuropathy. Retrieved April 15, 2018, from https://rarediseases.org/rare-diseases/chronic-inflammatory-demyelinating-polyneuropathy/
  15. McNamara, L. (2017, December 20). Guillain-Barre and CIDP. Retrieved April 15, 2018, from https://www.hopkinsmedicine.org/neurology_neurosurgery/centers_clinics/peripheral_nerve/conditions/guillain_barre_and_cidp.html
  16. Hughes, R., Mehndiratta, M., & Rajabally, Y. (2017, November 29). Cochrane, Corticosteroids for chronic inflammatory demyelinating polyradiculoneuropathy. Retrieved April 15, 2018, from http://www.cochrane.org/CD002062/NEUROMUSC_corticosteroids-chronic-inflammatory-demyelinating-polyradiculoneuropathy
  17. PEDIATRIC BRACES AND ORTHOTICS SOLUTIONS. (n.d.). Retrieved April 15, 2018, from http://hangerclinic.com/bracing-support/pediatric/Pages/default.aspx

Images

  1. Texas Children’s Hospital/Woodlands- https://pbs.twimg.com/media/C9I3tKJU0AAHQ7a.jpg
  2. Yellow Brick Road-  https://www.youtube.com/watch?v=hJqiAWWv-Iw
  3. Gower’s Sign Diagram- https://www.pinterest.com/pin/351984527098231235
  4. Alaskan Rainbow- https://en.wikipedia.org/wiki/Rainbow#/media/File:Double-alaskan-rainbow.jpg
  5. Glinda the Good Witch- https://www.pinterest.com/pin/100908847876882905

 

*Weblink to GBS/CIDP Walk & Roll Volunteer signup sheet (please copy and paste into your browser): https://www.gbs-cidp.org/volunteer/walk-and-roll/volunteer-walk-roll/

Special thanks to Mrs. Mary Allen & Katherine McGittigan, MLS, Without whom this essay would not have been possible.

 

 

 


Submitted: April 16, 2018

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