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Bradley's Story:

 

Our lives were blessed with the arrival of our second child in March of 1997.

At birth, Bradley was a healthy baby boy. His first year seemed normal and

he reached his developmental milestones at appropriate ages.

 

However, looking back on his early years, I saw things after the diagnosis

that I had not realized before. I remembered that he was a cautious and slow walker, while other one year olds walked quickly, often running. Bradley also had difficulty walking uphill, while his peers could run up the same hill without hesitation. We thought that with confidence, he would get faster and more proficient at walking and running.

 

After Bradley turned 2, we noticed he was clumsy and fell more frequently

than others his age. I thought this was related to his frequent ear infections,

which may have affected his balance. But after Bradley’s third birthday, we

realized he was not getting better. He seemed to be stumbling and falling

more often. His gait, while running, seemed awkward and waddled. Others

began to comment about the possibility of something being wrong. We

became concerned enough to seek medical advice.

 

Bradley’s Pre-Kindergarten physical was scheduled in August of 2000. At this visit, I voiced my concerns but the doctor reassured me that he would grow out of this awkward stage. I was unable to accept this reassurance. I knew something was wrong.

 

I decided to take him to a chiropractor who told me his spine was out of

alignment. He wanted to do spinal adjustments but my husband and I were

uncomfortable about chiropractic treatment.

 

We decided to get a second opinion from a reputable pediatrician. At the time, she did not see any significant problems. She told me she would follow up with him in 6 months and refer him to physical therapy, if I was still concerned. I didn't want to wait 6 months, but I did feel like an overly worried mother. I was ready to give up.

 

My husband said we could not stop there. He knew a doctor personally and

asked him to check on Bradley. He took x-rays in his office and told me the

x-rays were perfect. However, he agreed that his gait was waddled, especially with running. He decided to send him to physical therapy for gait training.

 

The physical therapist told me he had muscle weakness on the first visit. The thought of muscular dystrophy did not enter my mind. I just felt positive that she was going to work with him and strengthen his muscles. Then everything would be alright.

 

The next day, I decided to call the chiropractor and let him know that I had

decided to have him treated with physical therapy. When I mentioned the

muscle weakness, he told me he had noticed Bradley's large calves and

wondered if he could have muscular dystrophy. My first reaction was the belief that this could not be possible because there was no history of  muscular dystrophy in our family.

 

But later that afternoon, I decided to look muscular dystrophy up in my

pediatric assessment book from nursing school. I first noticed a picture of a

boy using the Gower maneuver--getting on all fours and pushing up with a

hand resting on one knee to stand.

 

I remembered looking at that same picture before, during a nursing class, as we briefly covered the subject of muscular dystrophy. I remember thinking I had noticed Bradley getting up in the same manner. I had quickly dismissed it from my mind back then.  

 

Less than 2 years later, I realized that he was still getting up in this way and we might have a problem. As I read about it being a genetic disorder, I slipped back into denial, because we had no family history.

 

That same weekend before the second physical therapy session, I was at my parents' home. I was talking to my mother, who is also a nurse, about Bradley. We talked about the chiropractor's comments. He had mentioned his large calves being a sign of muscular dystrophy. We also talked about the Physical Therapist's observation of muscle weakness. My mother suggested that I look muscular dystrophy up online. At the time, I didn't have the internet at home, so I took the opportunity. 

 

I remember the day very clearly, as I sat befor the computer and read about Duchenne Muscular Dystrophy (DMD). It seemed I was reading about my son. He had all of the symptoms; difficulty climbing stairs, a waddled gait, frequent falls, and difficulty rising from sitting. By this time, it was beginning to sink in. I had a very strong feeling that this was his diagnosis. More than anything, I wanted to be wrong about this.

 

The next day, I took Bradley to his second physical therapy session and

discussed everything with the physical therapist. She had already had

suspicions, but didn't want to upset me.

 

After physical therapy, I went straight to my husband's workplace to meet

him for lunch. After I told him that the physical therapist suspected muscular dystrophy, he called the doctor, who then referred him to a neurologist at St. Louis Children's Hospital. 

 

We had to wait 6 weeks to have him seen by a neurologist. Our appointment was on November 14, 2000. It was a day we would never forget; a day that would change our lives. I even remember Tom telling me on the way home, "I don't think he has it. He doesn't look anything like the other kids there."

 

Bradley was evaluated by a neurologist. As we left that day, he gave us an

order for a CPK blood test and sent us to the hospital lab. CPK is an abbreviation for creatinine phosphokinase, a muscle enzyme that leaks

into the blood stream when muscle damage is taking place. This is one of the same test used to determine whether someone has had a heart attack. He explained that for Bradley, an elevation over 300 would indicate muscular dystrophy.

 

He told us he would call us within the next week, but we received a call one

hour after getting home from St. Louis. His CPK level was 14,000, a strong

indication of Duchenne Muscular Dystrophy. We were devastated by the news.

 

That night, I tried to sleep but couldn't. I tried to pray, but could not find the words. I knew God was there with me, even thought I layed there in silence for awhile. I finally began asking in my thoughts, "Why God? What have I done to cause this? Why my son?" I wanted it to be me, instead of him. As I cried, I felt as if God was holding me close in his arms. He didn't expect me to know what to pray. He understood my devastation and he comforted me.

 

In time, I realized that God had chosen me and my husband to be Bradley's parents. God did not cause Bradley's disease but he knew what was to come long before he was he was even born or conceived. I knew God had a purpose for Bradley's life and a purpose in making my husband and I a part of his life. I knew God was in control and would get us through the hardships ahead.

 

 The next step was having a gene test to confirm the diagnosis. We had to

wait 4 weeks only to find out the results were inconclusive. I hoped this meant the diagnosis was a mistake, but the neurologist was 99% sure of the diagnosis. He told me to bring Bradley for a muscle

biopsy on January 19, 2001.

 

We received the muscle biopsy results only 10 days after the surgery.

I thought I was prepared for the worst. But when it was confirmed that

Bradley really did have DMD, it was like getting the diagnosis all over again. I broke down and cried as the neurologist talked to me for more than 30 minutes on the phone. 

 

Shortly after the phone call, my husband came home. I met him at the door in tears, and told him the devastating news, that DMD was now confirmed.

 

Not long after getting the diagnosis, I saw a friend in a local store and told

her about Bradley’s diagnosis. I began to cry, as I told her the news, in front of my two children. I could not hold back the tears. After she left, my little girl, Stephanie said, “Mommy, I think I hurt Bradley’s legs.”

 

She thought she had been playing too rough with Bradley and had caused him to have muscular dystrophy. I could not believe she blamed herself. I reassured her that it was not her fault. It was then that Bradley looked at me with a confused expression and said, “Mommy, are you crying about me?” I realized how much he knew.

 

I recognized how open I needed to be with my children about Bradley’s

disease. I wanted them both to be educated about the disease on a level

that they could handle and understand. On the way home from the store,

I explained to Stephanie that Bradley had been born with muscular dystrophy and there was nothing she could have done to cause it.

 

In 2005, we put Bradley in the Utah Dystrophinopathy Study. By this time, a new gene test became available that picked up 99% of all mutations causing Duchenne muscular dystrophy on this dystrophin gene. The gene test that Bradley had in the year 2000 only detected 65% of the mutations causing DMD. Through this study, we found that Bradley had a duplication of Exon 2. (There are 79 exons on the dystrophin gene. With it being the largest gene in the human body, there could be many different mutations, such as deletions, duplications, and point mutations).

 

Knowing his gene mutation is very important, because many potentials treatments and cures are specific to the type of gene mutation a individual has. Bradley is in a registry for Duchenne muscular dystrophy, so that we can be contacted when a potential treatment or cure becomes available to him.

 

By knowing Bradley's mutation, we were able to find out Stephanie's carrier status. In 2008, Stephanie decided to find out if she could be a carrier. Unfortunately, we found out that she has the exact mutation that Bradley has on the X that she received from me. Because the disorder is X-linked recessive, mothers carry the disease to their sons or carrier status to their daughters. If the mother is a carrier, there is a 25% chance that a son could receive the mutation causing DMD or a daughter could receive the mutation making her a carrier. Girls do not typically get DMD, because they have another X from their father. However, sometimes that X is skewed and they can actually have DMD.

 

We were also able to determine from that information that I am also a carrier, because both of my children have a duplication of exon 2. Knowing carrier status is important, not only for childbearing information, but also because carriers can have heart problems similar to the heart problems that DMD causes to individuals who actually have it.

 

So far Stephanie and I have healthy hearts, but we have to have EKGs and Echocardiograms every 3-5 years. Bradley started having heart changes in 2008, and these changes have progressed. He is on three heart medications.

 

It has been 12 years since Bradley’s diagnosis. For the most part, I have tried to be positive through the years. I try to think of the good things that have come out of Duchenne Muscular Dystrophy. I think of the people I have met, all the things that I have learned, and how I have come to understand others with disabilities.

 

I am thankful that things have not happened exactly as the neurologist

predicted. We were told Bradley would be completely dependent on a

wheelchair by the age of 12 years. He will soon be 16 years old, and seldom relies on a wheelchair. He uses it, only for long distances. We believe God has a worked a miracle in Bradley.

 

There have been times over the 7 years, that I thought he would lose ambulation any time. It was in times where I observed him becoming weaker or having a harder time getting around. In those times, I would cry, pleading with the Lord to not taking his ability to walk away.

 

I am thankful to all the people who have prayed for Bradley because I know

God has taken care of him. I know that God will continue to take care of him and carry us all through the difficulties ahead. Even if Bradley does stop

walking, it will not be the end of the world. I have faith that he will lead a

productive, quality life as many with disabilities have already done.

 

 

 

Our Email Address: jonesfamily91@msn.com