Saturday, January 20, 2007

12.2006


Our son Callum Zachary Robbins was born 1/27/06, and for the first few months of his life, my wife Janet and I had no clue anything was wrong. We remarked on his “mellowness,” the fact that he didn’t seem interested in his legs or feet, and that he seemed to really hate being on his tummy, but he was really sociable and obviously bright from an early age. Even our pediatrican thought Cal was just developing in his own way. He was, and is, simply a wonderful kid. But when he had passed his 6-month appointment and still didn’t sit up or even shimmy, and started having trouble holding his head up, we got more worried and went back to our doctor, only to find that something was indeed very wrong. We were told he had a severe lack of muscle tone, a total absence of reflexes, and the official diagnosis of SMA Type 1 was confirmed by bloodwork soon after.
We are lucky to live within walking distance of Johns Hopkins, where Dr. Thomas Crawford has been a specialist on SMA for 18 years. We were referred to him and he has been Cal’s doctor since the diagnosis, and he has been great. But when someone on the cutting edge of 21st century medicine tells you there is little or nothing that can be done, it does have a harder impact than hearing it from your family doctor.
We are encouraged by his perception that at least for now Cal is in very good shape for a kid with his diagnosis. It is not uncommon for an infant with Type 1 SMA to already have severely impeded breathing and/or digestion, but Cal’s respiration and digestion seem really normal and healthy - he has a really strong voice and great appetite, and for his condition, fairly good head control. As an 11-month old with the physical aptitude of a healthy 2-month-old, in some ways maybe he is ahead of the game.
We do as much physical therapy with Cal as we can (to keep his muscles from wasting and thereby keep him as healthy as possible), and we do everything we can to keep him from getting sick, because thanks to his weakened chest muscles, his lungs will probably not develop fully, and he will be at greater risk of a simple cold turning into an opportunistic infection, and even pneumonia, which is most likely to be his downfall.
The most perverse thing about SMA is that no two cases are alike, so there is no predicting the course of Cal’s illness. SMA Type 1 is often fatal in infancy, but there’s just no telling what’s actually coming for Cal, except that actual improvements are not to be expected.
We are working overtime to explore our options outside the traditional thinking. Since October, along with conventional PT, Cal has been getting regular cranial sacral therapy; we are working with another neurologist who has used detoxification programs to treat and even cure kids with other neurological disorders, to explore what effect dietary allergies and environment may have on Cal’s condition, and we are also looking into the feasibility & safety of trying him on Valproic Acid (an antiseizure medication that may boost the body's protein production) outside of a formal clinical trial setting, as Cal’s too young for clinical trials.
Most promising: in December we took a 2-week trip to Futures Unlimited, a unique physical therapy practice in Mississippi with a very special approach to neuromuscular disorders, which gave us a lot of hope. After 2 weeks there, we saw Cal get some muscle tone where he previously had none, a contracture in his right leg straightened out, and he is definitely inhabiting his body more than before. We have a lot of faith in what we experienced there and we will make it a continuing part of Cal’s care.
We are getting some great logistical support from the MDA and MD Infants and Toddlers program. We still don’t know just how far our insurance will go for the more conventional expenses that are coming up, like wheelchairs and the associated corrective surgery, assisted breathing machinery, etc ... meanwhile the alternative stuff is 100% up to us.
Our great friends Kim Coletta and Bill Barbot took the step of setting up a donation page for Callum on the DeSoto Records website back in December, which has opened the door to an incredible surge of goodwill and support from friends and acquaintances around the world. It's given us energy and resources to move forward that we simply wouldn't have otherwise, and it's hard to find the words to express our gratitude. We both dream of a day when we can try to explain to Cal how, when he was just a baby, so many people rallied to give him a shot at a better way forward.
After the initial shock and sadness of the diagnosis, we’ve come somewhat to grips with the ever-changing "new normal." Janet and I are reveling in this time with our son. Cal is not "our stricken baby," but rather a beautiful kid, with incredible positive energy and such a strong character that often it's been like he is the one getting us through it, not vice versa. Though we know the road ahead is going to be different and sometimes a lot more difficult, Janet and I are still experiencing the joys of being the parents of a wonderful little boy.
We encourage anyone reading this to donate to any of these SMA-related charities:
SMA FOUNDATION
FAMILIES OF SMA
SMA SUPPORT
MUSCULAR DYSTROPHY ASSOCIATION
Though SMA is currently incurable and virtually untreatable, there is great promise for the development of a treatment or even cure within the next decade. Donations to any of these charities will help more than just one family, help fund this research, and will also help raise awareness that this condition is far from rare and can be tested for in pregnancy - if you know to ask about it.
To everyone who is helping in any way, even with a thought of support, we send all our gratitude and love.

1 comment:

J said...

Hello there! I've been following your blog for a while now, and check back every few months, just to see how your son (and your family) is doing. i think I came across your blog through a benefit in Chicago - yes, that's it.

Well, just wanted to say hello and that I think of you often, and there must be a lot of people floating out here doing the same. I am always so happy to see your absolutely adorable son's gigantic smiles in his photos. He's quite a charmer. :)

My daughter is 6 months younger than Callum. We had a year or so of health scares, but she's well now. I know how immensely fortunate we are for that fact.

Also wanted to let you know your link to the SMS booklet is broken, but I looked it up and here's the new link: http://www.fsma.org/FSMACommunity/UnderstandingSMA/

Sending good wishes to your family and of course, especially your sweet son, who I must say is tremendously blessed to have you as his parents. No one could take better care of that little guy. Amazing that a stranger can know that just from a blog. Anyway, good wishes to you.

Janice in Chicago