A few weeks ago, we received some of the pictures that were taken at our photo shoot for People. Sincere thanks to the photographer, Charles Gullung, and People for this gift. The photos are colorful, bright and happy. It’s just the way I want to remember things.
Now that we’ve been in People (never our goal, but life is unpredictable…), there’s just one more publication that I’d like to make: the green journal.
Neurology is a weekly publication from the American Academy of Neurology. For neurologists, it’s kind of a big deal to get published there.
I don’t do research, so the chances of me publishing in Neurology are zero. I think I have a decent chance of getting into Neurology, though – as part of a case study.
Our family is interesting, medically-speaking. I’ve known this for a while, and it’s actually awful. It means that you have something bad and no one can figure it out. Julianna has one of the worst cases of CMT – ever. Steve’s is practically asymptomatic. To quote my high school self, quoi is the deal?
We may be getting close to an answer. We have gone through the latest round of genetic testing, and there’s a candidate gene. It’s something that is known to cause problems with peripheral nerve cells, but it hasn’t yet been identified as a gene whose mutation leads to CMT. If it pans out, Julianna could be the first case.
Why is this important? It will lead to a better understanding of what causes peripheral neuropathy, and it may pave the way for treatment. It could help other families who are watching their child decline and searching desperately for answers. Maybe – just maybe – it will identify something that we can try soon.
These types of medical advances require an enormous amount of resources. Our genes have been under analysis for over three years. It’s a collaborative effort, and research labs all around the world have contributed. Recently, I learned that our family’s gene analysis identified eight million “variances” (abnormalities) – which is actually a normal amount. We all have gene variances, and almost all of them never amount to anything. Only one (maybe two) is responsible for causing J’s awful disease. One out of eight million — this is just one of the things that the researchers have to sort out.
So far, we have raised over $14,000 for CMTA. This is a national organization that funds research for CMT, and they are the best way we can fight this awful disease. Our goal is to raise $60,000, but in truth, I would like to raise more – a ton more.
I’ve never tried to raise money for anything before, and I’m not a great fundraiser because I hate asking for money. I hate CMT more though — so I’m asking now. As usual, Julianna helped me put things into perspective.
M: Julianna, what should I do? I want to raise a lot of money for CMT, but I hate asking people for money.
J: But why? It’s for CMT…
M: I know. But I feel bad. What if they don’t have much money?
J: — spoken as if she’s stating the obvious — Mom, if people don’t have much money, they can give just a penny.
Julianna and Alex both know that a lot of money is needed to find a treatment for CMT. I asked them what they would like to say, and they came up with this:
CMTA’s vision is “a world without CMT.” To be honest, I try not to think of this too much. I got glimpses of this sort of world before the diagnosis, when I thought we were dealing with just a bit of motor delay that physical therapy and determination could defeat. Picturing our Julianna running, laughing out loud (CMT makes her laugh silent) and dancing with her whole body (not just her head) makes me sad, because the chasm between this dream and our reality is too great right now.
Julianna isn’t afraid to dream, and she isn’t sad. She imagines a world without CMT. All the time.
Last night, during a rare quiet moment:
M: Julianna, what’s in that big brain of yours right now?
J: I’m walking. On the sidewalk.
J: I’m walking, and nothing is bothering me – except for Alex. I’m wearing my colorful skirt and colorful shirt.
M: Where are you going?
J: The playground, of course!
Later that evening, close to bedtime:
M: What now?
J: I’m walking…
J: I get out of bed and go to the kitchen for a snack.
M: What do you eat?
J: Ketchup – and milk.
M: Are you sure?
J: Yes. And then I get out some toys and play.
M: All by yourself in the middle of the night? Aren’t you lonely?
J: No, I’m happy.
I am grateful for Julianna’s huge imagination but I wish that she didn’t need it to walk.
If you are able, please help Julianna fight CMT by giving to CMTA — for Julianna, for a world without CMT.
We appreciate each and every donation!! And, if you know how to fundraise and have ideas on how to help, please contact me.