Dreaded Diagnosis

Posted on Tuesday January 12, 2016

A Father Comes to Grips with His Daughter’s SMA

In January, 2005, our two-and-a-half year old daughter was diagnosed with Spinal Muscular Atrophy (SMA). About one month later, I began writing about our rocky experience with her symptoms, our doctors, and her eventual diagnosis. I had quite a difficult time completing it, and revised it several times. Ultimately, I put it away for a few months. Looking back over the original drafts, I realized how much my story was driven by anger and a “why us?” attitude. One year later, my outlook has changed, and in turn, so has my story. I’d like to share it with you.
Our precious Maya entered our lives on September 6, 2002. She was born a few days after her due date in Kurashiki City, Japan. We fell deeply and madly in love with her instantly. Her Apgar scores were high and there were no complications during her birth. Maya developed relatively well in the first six months, reaching milestones such as lifting her head and sitting up.

However, we did receive a scare one night when Maya was about 3 months old. In the midst of my wife giving her a bath, Maya suddenly stopped moving. Although her eyes were open, she remained motionless for a minute or two. As could be expected, we were quite petrified as it was happening, but once she started moving again, everything seemed fine so we did not think too much more about it. In our need to make sense of what had happened, we rationalized that Maya was probably just a little dehydrated. In hindsight, while we have heard it is extremely rare, it is conceivable that the incident we witnessed was the precise moment of onset of this cruel disease.

In the days and weeks that followed, we became slightly concerned that Maya did not seem to be kicking out her legs quite as hard as before. While we did not necessarily relate it to the bathing incident, we asked Maya’s doctor about it. He told us not to worry so much and assured us that she was developing just fine. Maya continued to develop and we went on living our perfect and happy lives.

As Maya approached her ninth month, our concerns about her development resurfaced. She still couldn’t roll over on her own, and she wasn’t making any attempt to crawl like other babies her age. Again, the doctors told us not to worry. “Just be patient and she’ll get there in due time,” they said. It was around this time that I began searching the Internet for things like, “floppy baby” and “developmental delay.” While I told myself that I was only researching methods to help Maya overcome her minor and temporary delay, I began to secretly worry that something may truly be wrong with my baby.

In reading just a few short paragraphs about SMA on the Internet, I had read enough to learn that this was truly a very bad disease to have — so bad, in fact, that I could not bring myself to read anymore about it. To me, at that time, SMA simply equaled a death sentence, and I quickly dismissed the possibility that Maya’s lack of progress was related to SMA in any way. Instead, I focused my searches around a much less intimidating problem called Hypotonia, which is a problem with low muscle tone. This was something I could live with, as most kids diagnosed with a form of Hypotonia could be treated, and it certainly wasn’t fatal.

Naturally, my wife and I tried everything we could to get Maya over the hump. My wife played with Maya in a more physical way, and I tried all sorts of creative tricks to get her to move more by herself. One of the activities I included in our daily routine involved me spreading out a towel on the floor and putting Maya on her stomach on the floor over the towel. I would then raise both ends of the towel, with Maya in the middle, and attempt to simulate the act of crawling. In hindsight, I feel so ashamed at the way I pushed and prodded that poor little girl. Maya wasn’t moving because she didn’t want to – she just wasn’t able to.

Our fears were highlighted when I took our family back home to Canada for a visit for Maya’s first birthday. I witnessed firsthand how my niece, nephew and other children in the same age group were far more advanced than Maya physically. While we were happy that Maya had recently begun turning over by herself, we could no longer ignore the fact that she was not making any effort to crawl. When we returned to Japan, we turned the heat up on the doctors and requested that they take a closer look at Maya. This triggered the beginning of a long and arduous journey filled with more doctors and lots of tests.

Although Maya’s initial tests, including an MRI, did not reveal anything, one of the neurologists began to suspect Maya may have a peripheral neuropathy. I didn’t know what was worse: hearing for the first time that something may be truly wrong with my perfect angel, or not knowing definitively what it was. At about this time, we started various rehabilitation strategies such as swimming, physical therapy and occupational therapy. After nearly another year of monitoring Maya’s development, it was apparent that she was not showing much improvement; and in some ways as her body grew and became harder to manage, she was even regressing a little bit.

When Maya was two, she underwent another battery of tests including electromyography (EMG) and nerve conduction velocity (NCV) tests. Although the tests’ findings were inconclusive, based on Maya’s clinical symptoms, her doctors went on the record as saying she likely had a peripheral neuropathy called “Dejerine-Sottas Disorder” (DS). DS disease affects the distal limbs and can cause severe disability, but does not usually affect life expectancy. While this was certainly not what I wanted to hear; in today’s world with the advancements of technology and the developing attitudes towards a barrier free society, this was a prognosis I felt I could learn to accept. At least we would be able to enjoy our daughter’s life.

In the months that followed, we coped with the DS diagnosis the best we could. I learned as much as I could about the disease, including the fact that there is a DNA test in the US that could confirm certain types of DS. And, while I did not want to believe that Maya could have SMA, I wondered why Maya had not had the DNA blood test to officially rule out SMA. Upon conferring, the doctors said the DS test would not be possible, but they did perform the SMA test.
As the SMA test was done as a precautionary measure, and since Maya’s clinical symptoms looked more like a peripheral neuropathy, we fully expected the results to confirm that she did not have SMA. In hindsight, I should have suspected something was awry when our neurologist called us in for a consultation a few weeks after the test. If the results were negative, he could have just told us over the phone as he had for the other tests. Still, I reasoned that he was following official procedures. Once we arrived at the hospital, we were led into a private conference room where he sat us down and informed us that Maya’s test had come up positive, and she did indeed have SMA.

I can not describe in words how this news completely and utterly knocked the wind out of us. When I began to collect my bearings, I started firing off questions about this disease. It became even more frustrating to not get any straight answers. Before coming to hear the results of test, I had read a few more articles about SMA and knew that it was a disease of which much remains unknown. Even still, it became very clear that our neurologist and the others had very little knowledge and experience regarding SMA, and it started to make sense as to why the diagnosis took so long. In fact, some of the information Maya’s neurologist told us that day, such as the way SMA is inherited, turned out to be just plain wrong. While I wish I could blame the miscommunication on language, Maya’s neurologist and the others present were fairly fluent in English.

In the months that followed, we visited a few doctors across the country that had more experience dealing with SMA patients, and of course, I threw myself heavily into the SMA literature. I came across the Families of SMA (FSMA) website very early and have been a member and regular visitor ever since. I invited Maya’s local neurologist to join FSMA so he could learn about the recent developments concerning SMA treatments. After anxiously waiting nearly a month for his response, I contacted him again. He finally replied saying he could not join FSMA as he was too busy. Needless to say, we switched doctors. (I wonder if he even noticed?) While Maya’s new neurologist also does not have extensive experience dealing with SMA patients, we think the world of him because he is open to new ideas and options, and is willing to learn more about SMA in an effort to help our daughter.

It has been nearly 14 months since Maya was diagnosed with SMA, and it’s hard to believe just how far we have come. I would have never imagined how optimistic I could feel only a year later. With role models such as the late Nicki Ard, professional gospel musician and former winner of the Ms. Wheelchair America 2001, Stephen Mikkita, Assistant Attorney General of the state of Utah, and the brilliant Cambridge physicist, Stephen Hawking (who was diagnosed with ALS years ago – better known as Lou Gehrig’s disease — but recently some doctors have suggested that he may have a rare type of SMA), I feel there are no boundaries as to what Maya can accomplish in the future.

After meeting parents who have suffered the loss of a child, I actually count myself lucky — something I never guessed I would feel after Maya was diagnosed. We are so very blessed to have such a vibrant and intelligent child as Maya in our lives. She has had to endure so much in her young life and has never once complained. She is an amazing kid and seems to excel at anything she puts her mind to. She has taught me so much and is truly the person I respect and admire the most in the world — she is my absolute hero.

I believe my prayers for a cure will someday be answered. I realize there are tough days in store for us, but we will meet them head on and cope the best we can. This disease has taught us to live every day to the fullest, never take anything for granted, and to understand what is truly important in our lives. I witness people stress out every day over things like office politics and having car trouble and know those days are long over for me. My life is my family, and I will cherish every day with them!

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