Finding A Diagnosis
Bradley was born in March of 1997. He seemed to be a healthy baby boy.
Little did we suspect he would be diagnosed 3 1/2 years later with a life threatening genetic disorder, Duchenne Muscular
Dystrophy(DMD).
In August of 2000, when Bradley was 3 years old, we began searching for answers.
We had noticed Bradley was clumsy, fell often, and could not run as fast as others his age. He would run with a slow,
waddled gait.
We first took Bradley to our family doctor who reassured us that Bradley would outgrow
this clumsiness and nothing was out of the ordinary. I was going to a chiropractor and also had him evaluate Bradley.
He told me that his back was out of alignment and spinal adjustments would fix the problem.
After much thought over the chiropractor's comments and being uncomfortable about chiropractic
treatment, we decided to take him to a pediatrician. Like the family doctor, she could not see anything significantly
wrong with Bradley. She asked that I wait 6 months and if I still had concerns she would refer him to Physical Therapy.
By this time, I was feeling like the overcautious mother. I was ready to give up because even a pediatrician could not
see a problem.
My husband decided to call a doctor associated with his work. He asked him to evaluate
Bradley and help us figure out what was wrong. When we went to see this doctor, he was in agreement that something was
different about the way he ran and made a physical therapy referral.
At the first PT visit, the physical therapist told us that Bradley had
muscle weakness. The thought of muscular dystrophy had not entered my mind but later that day I was telling the
chiropractor about the visit. He told me that he had noticed Bradley's large calves, a sign of muscular dystrophy but
he had not thought about it until I mentioned muscle weakness. Initially I dismissed the idea of my son having something
hereditary that we had no family history of.
But over the same weekend, I began researching and found some information online about
DMD. I had read all the red flags and knew in my heart this was Bradley's dreaded diagnosis. I wanted
more than anything to be wrong but as suspected a diagnosis of Duchenne Muscular Dystrophy would be confirmed within the next
4 months.
When I went back and spoke to the PT, she told me that she had suspected the same thing
but did not know how to tell me. She did not tell me that day but she had previously worked with a boy who was diagnosed
with DMD while she was providing PT for him. Bradley was exhibiting those same symptoms and she was already
suspecting muscular dystrophy before I brought it up.
That day I went and had lunch with my husband, Tom. I told him about my conversation
with the PT and he decided to call the referring doctor right away that day. The doctor doubted
Bradley would have anything this rare but he said he would make a referral to St. Louis Children's Hospital. We had
to wait a month and a half for the appointment. To know in your heart that your son probably does have muscular dystrophy
and to anticipate that appointment for a month and half was very difficult. I spent hours of research on the disorder.
No one believed he could possibly have this disease but after all my research I was almost certain. I wanted to be proven
wrong in this case.
On November 14th, 2000 our lives changed forever. Bradley was thoroughly examined
by a neurologist in St. Louis. On our way out of the hospital, we had his blood drawn for a CPK level. During
our drive home my husband talked about other kids we saw in the Neuromuscular clinic and did not believe Bradley could have
a neuromuscular disorder. We had not even been home an hour before the phone rang that evening.
The neurologist had called to let us know that Bradley's CPK was 14,000. ( Normal
would be 0-350 for his age and activity level). He told us that Bradley probably did in fact have DMD but we would need
to have more tests done to confirm the diagnosis. I was in tears while on the phone with the doctor. I asked if the
tonsillectomy Bradley had had earlier that month could cause his CPK to be high but he told me if it were not DMD, it would
have had to take a severe crush injury to cause a CPK that high.
We had to have a gene test done after that to see if a gene flaw could be found.
The test available at the time only detected a gene flaw in 67% of boys with DMD. A negative result would not get us
out of the woods; we would have to followup with a muscle biopsy.
We had no idea that we would have to wait a month for the gene test result. The
wait was agonizing. It was even more agonizing when the test result was negative. We naturally got our hopes up
even though the neurologist could not give us any hope. He was still 99% sure of the diagnosis. In my heart, I
knew he was right but still hung on to whatever hope I could.
Bradley had a muscle biopsy on January 19th, 2001. On January 29th, 2001, the neurologist
called with the final results confirming the diagnosis of DMD.
A few years later, a new gene test became available. Bradley was tested
through the Utah Dystrophinopathy Project and it was discovered, he has a duplication of exon 2 on the dystrophin gene.
Through the Utah Dystrophinopathy Project, Bradley will be followed for 10 years to see how his disease progresses according
to his particular gene flaw.
