The Neurologist
The three of us went to the neurologist appointment. Pete and I had no idea this appointment would be the continuation of a four year diagnostic process to determine whether Hayes had Duchenne or Becker muscular dystrophy.
The neurologist was great with Hayes, and it showed how comfortable he felt working with kids. He performed a common peroneal nerve condition study by inserting several super fine needles in our son’s calf muscles. Needles, no matter how fine, are a scary experience, especially for a four-year-old. It is equally scary for the parents watching it happen.
In addition, he spent forty-five minutes observing Hayes’ gross motor skills ability by asking him to do specific tasks like sit and lie down and then get up, kick and throw a ball, run, walk, skip, touch his toes, balance on one leg and put his arms up above his head.
Then he asked, “How would you describe your son’s development from birth?”
Hayes’ Development
Being careful of my words since Hayes was in the room, I told the neurologist:
“Our son was not delayed in fine motor skills, speech, or ability to learn. He started talking when he was about ten months old. Hayes would crack cashiers up when we finally got our turn, and he would be the first to say “Hi” to them!
He did not begin to sit until nine months, crawling at eleven months, and walking at about fifteen months.
Hayes consistently measured in the fifth percentile regarding his physical size. (In other words, 95% of the children his age were bigger than him). At the first-year checkup, he weighed 16 pounds, 27 1/2 inches. Hayes cut his first tooth at 17 months. He was 21 pounds, 32 1/2 inches at his second-year checkup. At the other checkups, he was fine.
He loves riding his Big Wheel and has a bicycle with training wheels. Other than the usual childhood illnesses, our son has been healthy.”
Pediatric Orthopedic Surgeon Report
As I wrote about in Diagnosis And Death Certificate, he thought Hayes had Duchenne muscular dystrophy.
Neurologist Report
When we received the written report, he concluded that he thought Hayes most likely had the Becker form of muscular dystrophy.
MDA Neuromuscular Clinic Director Report
“I would agree with the neurologist that, in all likelihood, this is either Becker or Duchenne muscular dystrophy. The fact that the patient is doing as well as he is at this time would perhaps favor the Becker form of the dystrophy.”
The DNA Diagnostic Report stated:
Based on clinical findings, Hayes has been given a probable diagnosis of Duchenne muscular dystrophy. Our molecular studies have confirmed his diagnosis by demonstrating that he has a deletion mutation in his dystrophin gene. This mutation deletes exons 45 through 50 from the gene. The deletion was detected with 1) Multiplex amplification and 2) amplification of STR sites in introns 44 and 49.
Using mutation analysis and densitometry, both prenatal diagnosis (at>99% accuracy) and carrier determination (at>98% accuracy) could be offered to Hayes’ mother who, prior to analysis, has a 67% risk of being a DMD carrier. If her results indicate that she does not carry the mutation somatically, we would predict that she has a 15% risk for gonadal mosaicism. We recommend that she be made aware of the availability of these studies.”
What? Welcome to a whole new world of medical terminology. That sounded more to me like an algebra problem than the most devastating information I ever got about my only child. All of the specialist reports were many pages with medical details I had trouble understanding, just like the example written above.
I had to look up the word somatically which means “of, relating to, or affecting the body, especially as distinguished from a body part or the mind.” Gonadal mosaicism happens when a mutation occurs in a developing fetus’ egg or sperm cells.
Never did I think of any part of my son’s mind, body, or soul as a mutation (used four times in just two paragraphs of the DNA Diagnostic Report).
Medicine Is Not An Exact Science
I understand that medicine is not an exact science. The above-written findings, however, were confusing.
The pediatric orthopedic specialist thought Duchenne; the neurologist thought Becker; the Director of the MDA Neuromuscular Clinic thought Becker; the DNA Diagnostic Report said Duchenne. If you are keeping score, that’s 2 for Duchenne and 2 for Becker.
A year into this excruciating process, I wrote to the MDA specialist and asked for clarification of our son’s diagnosis.
“In response to your letter requesting information regarding your son’s diagnosis, the clinical picture and the laboratory date (including the elevated serum enzymes such as the CPK and the deletion analysis) support a diagnosis of the Becker form of muscular dystrophy.
At this point, there is no definitive treatment for this, and our plan is to follow your son with supportive care, including physical therapy and any other measures that could become necessary.
For your records, I am sending you copies of my clinical notes and the report of the deletion analysis.
With regard to the latter, under the interpretation, it states that Hayes has been given a probable diagnosis of Duchenne muscular dystrophy and that the molecular studies confirm this diagnosis.
The studies do not differentiate between Becker and Duchenne dystrophy. Somehow the information went to the laboratory that clinically your son has Duchenne dystrophy. I believe that clinically he has the Becker form of muscular dystrophy as we discussed, and the deletion analysis can merely confirm that it is either the Duchenne or Becker.”
Diagnostic Limbo
I never thought I would be grateful for my son having any disease. But Pete and I were truly grateful to receive this letter from the Director of the MDA Neuromuscular Clinic stating he thought Hayes had the Becker form. If you must choose a future for your son that involves one of these incurable diseases, Becker is the better deal. Boys with the Becker form walk longer, retain their body strength longer, and live into their forties or fifties. At least with Becker, our son would outlive us instead of the other way around.
It had been a lifetime in our hearts and minds since the diagnostic process began. We never scheduled the calf muscle biopsy that the Pediatric Orthopedic Surgeon suggested at the beginning of this process.
Pete and I decided we could live not knowing for sure whether Hayes had Duchenne or Becker muscular dystrophy. We were thankful for the four years we thought we had a perfectly healthy child.
Not having a definitive diagnosis, we decided to wait before telling our family and friends about Hayes’ life condition.
Fear
- I feared Hayes would live in the shadow of our grief.
- I feared Hayes would lose hope when he could no longer walk.
- I feared every thought I might have about his future.
- I feared I wouldn’t have the physical strength to do the lifting needed to take care of my son for the rest of his life.
- I feared I would not be smart enough to understand the complicated medical reports and make the wrong decision.
The uncertainty kept coming. How could we possibly survive watching our sweet son die a day at a time from a condition for which there is no cure? How and when should we tell Hayes? Were the three of us on a crash course that we were spiritually unprepared for?
The Message
I wrote about my Christian upbringing in The Baptists and spiritual beliefs in God Without Boundaries. A message came to me when I got stuck trying to write the end of this survival story from my favorite part of The Bible. The first thing I saw was this small decoration ever present in my office. After the reminder from the great beyond that I am not alone in my trials, the memories of that difficult time returned to me.
Tough Cookie Tip: I kept telling myself, “Trust, Marilyn, Trust. The grief road is long. Don’t give into the fear of the unknown, anger, unfairness, and hopelessness. For Hayes, live every day with gratitude that he is still alive. He is such a happy kid and loving son. The dreams will need some revision, so stay focused on the options. Be victorious over the pain and depression. Listen to your gut and pray daily for a cure.”
That was my call to action to myself. After all, I had promises to keep.
Copyright © 2022-2025 Marilyn K Fuller. All Rights Reserved.
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Despite what Hayes and you had to deal with, I think Hayes’s spirit showed he would make the most out of his life regardless of the outcome with the help and support from his mom :).
Hi Mar- I really liked the quote about faith and fear. It is a choice of faith over fear although the two can be present at any given moment.. Keep writing and sharing these important insights❤️
I can tell this journey for you is cathartic. It is also difficult at times as you relive your most painful experiences. But Marilyn, it is so helpful for others. Thank you for sharing your inner-most joys and heartbreaks with us. Your writing demonstrates the depth of love you have for Hayes. No doubt he looks down upon you and gives thanks for having been blessed with you as a parent. I’ve always believed that God chooses special parents for his special children. You are proof of that.