2005 Christmas Letter
For quite a few weeks, I have been considering what I would write and the tone that I would take with this letter. This is actually so daunting for me that I briefly considered not writing the letter at all. Remembering the fact that so many of you have said that you enjoy reading my letters, as depressing as they may be, is what gave me sufficient incentive to continue, and to continue in the same manner as I had done previously. If I had written this a few months ago, this letter would have been full of despair and anger. Despair, because I had just learned that I would spend the next twenty to thirty years watching my daughter, the most beautiful child the world has ever known, slowly weaken and die. Anger. Anger at Spinal Muscular Atrophy. Anger at the government, anger at the health care system, anger at… everything. Pure, unbridled fury unleashed at the spiritual and the secular alike. It would have made one hell of a Christmas letter. Fortunately, things have changed and I have progressed. I have come to realize that I am not going to watch Emma slowly weaken and die, but that I am going to watch her slowly grow and live.
Since a Christmas letter really should contain a summary of the year’s events, I have spent some time pondering all that has happened to us since last Christmas. Honestly - it’s hard to believe that so much has happened in only twelve months. We started out the year very concerned because Emma’s legs seemed to be getting weaker. Another X-ray and CT scan showed that nothing appeared to be wrong. One of her doctors came up with a possible explanation: “tethered [spinal] cord syndrome.” Emma had the symptoms, so he ordered another MRI. On the way home from that consultation, Emma had her first seizure. Describing that day’s events in complete detail here is just not going to happen - I’ll sum it up by saying that it was the worst thing I’ve ever experienced in my 36 years on this earth, and I’ve been through quite a bit. Emma got two ambulance rides - one to Bristol Hospital and one to Hartford Children’s (CCMC,) and had another set of X-rays and another CT scan, but both showed no issues with her shunt, nor offered any explanation for her seizure. A few days later, she had the MRI and an EEG. The MRI showed no sign of the tethered cord syndrome, and the EEG gave no reason for the seizure either.
A couple of weeks later, Emma had her second seizure while we were at a restaurant with some friends. She got her third ambulance ride and another round of tests at CCMC. Immediately after, her neurologist gave us a prescription for anti-seizure medicine, and Emma has been seizure free since then. Somewhere in the middle of all of this, we enrolled her in aqua therapy at the Hospital for Special Care in New Britain, and we continue with it about once per week. Emma loves it. The therapists are fantastic, and she thinks it’s playtime with her getting all of the attention. Around this same time, Emma also got her first set of wheels. We needed to get her standing so that she wouldn’t start to lose bone density in her legs, so we got her a “dynamic stander.” She immediately caught on with the idea of self-propulsion, but steering and stopping didn’t come until a few months later. Now, she wheels herself around the house and has finally forced us into childproofing all of the kitchen and bathroom drawers.
Near the middle of the year, Emma’s neurologist came up with another possible diagnosis for her weakness, but he didn’t tell us. He ordered an EMG to test nerve conductivity. For those of you unfamiliar with it, the first part involves electric shocks at many different points on the skin and the second part consists of needles with tiny microphones on their tips being stuck into various muscles. When it’s performed on a two-year-old, it is far worse than it sounds. The test results showed that there was a problem with her nerve conductivity, but we still didn’t have a diagnosis - so Emma got a blood test. About half of the way through the eight weeks that we waited to get the results, I ended up finding out what the test was for. I punched up “Spinal Muscular Atrophy” on the Internet, and the first thing I found was that it killed 50% of the children that were diagnosed before the age of two. Emma wasn’t turning two until September. I couldn’t bring myself to tell Amy, nor anyone else. Needless to say, those next few weeks weren’t a lot of fun for me. Of course, I got the results back, and… well… let’s just say I consumed quite a bit of alcohol that night.
The most severe form of SMA can kill a child a few months after birth. The least severe form doesn’t reveal any symptoms until late in adulthood. Type 1 is the most severe form of SMA, and type 4 is the least. Emma is between a type 2 and a type 3. People with SMA are missing a gene that produces a protein that keeps spinal motor neurons alive. The spinal motor neurons are the things that send signals to the muscle fibers in the body, and without those neurons, the muscles won’t work. Those with SMA slowly get weaker as more neurons die off. We have been told that Emma has a 75% chance of making it to the age of 25.
Like I said before, this letter very well could have been written with a dramatically different tone, but things have changed. We found support. Within minutes of me sobering up that first night, I was on the Internet discovering all that I could. I was even corresponding with adults that have SMA, and one in particular was diagnosed at Emma’s age with almost identical symptoms. In just a few days, people were reaching out to us, asking us if we needed any help. Within what seemed to be no time at all, we were members of the CT chapter of Families of SMA, and we were meeting other members. Seeing other children and even adults with more severe forms of the disease leading happy and successful lives made all of the difference in the world to us. We have since become quite active in the organization, and I have become the new webmaster and have created a new website for the chapter. If there isn’t a cure for SMA in the next ten years, many of us in the community believe that there will at least be a successful treatment for it soon. There are a number of researchers making amazing discoveries every month, and there are so many more important discoveries just over the horizon. Awareness and the funding that comes with it will make all of this happen sooner.
Emma, of course, is her usual amazing and wonderful self. She’s at the point where she can carry on a complete conversation and talk about the day’s earlier events. She can remember words and objects from months before, and when Daddy is having trouble with a home improvement project, she can curse like a sailor along with him. Eating at home is no longer good enough for her, and the princess demands to “go to the restaurant” a few times per week. She has an amazing sense of humor and has already grasped the critical concept of sticking with the best material - which usually consists of shouting the word “diarrhea” in a crowded room. A few weeks ago, Emma picked out her own first fish and named it “Rock.” He’s still with us.
Oh yeah - Amy still works for the city of New Britain, and I moved my shop to East Hartford. Business has improved dramatically, but I’m still not making the money that I want to. It looks like I’ll soon be going back to work for the Man…
Emma’s website: www.bristoldyno.com/emma - The CT chapter’s website: www.ctfsma.org - Click “Donate.”