SMA AWARENESS 2016 - Day 3

I really like the pic below representing how someone ends up with SMA. It's simple genetics really. Think back to your high school biology class. "In sheep white is due to a dominant gene (W), black to its recessive allele (w). A white ewe mated to a white ram produces a black lamb. If they produce another offspring, could it be white? If so, what are the chances of it being white?" That kind of stuff. 

 

So of all the recessive genes Colby could have gotten, he got the SMA gene from both of us. Shaking my head. I think the scariest part is that 1 IN 40 PEOPLE IS A CARRIER OF THE SMA GENE! Think about that next time you're in a crowd. We had no idea we were carriers. We had never heard of SMA. No babies on either side of the family died or presented symptoms of SMA. It was total shock when we received Colby's diagnosis. And you hear this same story over and over again. That's why I think it's so important to educate, or spread the word, or bring about awareness or whatever you want to call it. There you go, you've been educated today. You're welcome.  

SMA AWARENESS 2016 - Day 2

When I woke up today, I challenged myself to find something positive about SMA. Yeah right huh?! Nothing like struggling with an impossible task the whole day. Honestly, I have nothing good to say about SMA itself. If you know anything about our lives, you know how hard it is dealing with this diagnosis. Well, maybe I don't have anything positive to say about SMA right now, but here are some things I've learned and developed over the years raising an SMA Type I child.

Patience – You may not believe this, but I have developed a tremendous amount of patience. I've had no choice but to at times inhale, exhale, repeat and deal with things as they come along. Patience in dealing with getting the supplies and equipment he needs. Patience in dealing with people who don't know anything about SMA, yet assume it's okay to tell me what to do with Colby. Patience with goofball nurses. Patience with getting Colby ready to get somewhere. Patience with Colby when I know he's smart as can be, yet he chooses not to be independent. And even patience with myself. I try to be the absolute supermom who can do all and fix all for Colby at all times. And there are days that just can't happen. After all this time, I've finally become more and more patient with many people and circumstances. That's a good thing, right?

Support – Colby and I have a tremendously large and freaking fabulous support system. Honestly I don't think either of us would've survived this long without it. As the saying goes, everyone is your friend when times are good. Then you find out who your real friends are when the shit hits the fan. I'm overwhelmed with how loving and generous certain people have been to us. It means everything to me to know that if I'm having a rough time, I can pick up the phone and call any number of people who will listen to me talk, cry, vent, problem solve and do anything I ask of them. No questions asked. And the SMA community is awesome. I'm proud to be a warrior mama with so many strong, loving, helpful SMA moms. We support each other, give advice about what has or hasn't worked for our kiddos, share supplies, etc. No one should have to go through an SMA diagnosis alone, and I know how lucky Colby and I are to have such a wonderful group of people supporting us through this journey.

Gratefulness – I have bad days just like everybody else. Some days are really bad. So bad I truly think I'm losing it and wonder if I can continue to do what I have done the last 14 or so years. But I'm no fool. I am extremely thankful for every single moment and day I have with Colby. Even if I have trouble with insurance, supplies, nurses and who knows what else, at the end of day I know how lucky I am to still have my sweet boy. I don't ever forget that. EVER. Colby is a sweet, funny, beautiful soul. He has brought me so much joy and pride. When I watch him sleep, listen to his jabbers, or see him just doing his normal Colby stuff, I treasure it all. Because unfortunately way too many SMA families have had to say goodbye to their beautiful children way too early. I don't know how I would ever recover from losing Colby. So for now, I'll be thankful for the time I do have with him, along with feeling blessed that he's doing as well as he is. Sure don't miss those awful, long, stressful hospital stays.

I will also give a shout out to the numerous doctors, specialists, therapists and teachers who have helped us along the way. SMA is tricky. It seems to affect each child the same, yet so differently, if that makes any sense. The learning curve with SMA Type I is pretty damn short. You receive your child's diagnosis then boom, you better hit the ground running as they say. You're thrown into the big bad world of terminology, appointments, medical facilities and so much information coming at you. Some of it correct, some of it incorrect I might add. We've had a lot of help from a lot of different people along the way. Colby has had some excellent professionals helping him (and me) over they years. And we love you all and all you've done for Colby.

So there, that's about the best I can do. Because honestly, SMA sucks. It's horrible and I absolutely hate it. But I know Colby and I aren't in this fight alone, and that means so much to me. I know I've grown as a person and have become strong, resilient and educated in how to best care for my child. And those are the positives I cling to when it gets rough. Next blog maybe I'll share all the negatives about SMA. That will be so much easier haha.

SMA AWARENESS 2016 - Day 1

August is SMA Awareness Month. I will attempt to blog each day this month to tell you a little something-something about SMA, particularly how it relates to my sweet boy Colby, along with how our lives have changed since receiving his diagnosis in November 2002. Many of our family and friends know all too well the in's and out's of SMA, so much of the stuff I blog about will probably be blah blah blah to them. But maybe, just maybe, a newly diagnosed family will come across this blog and maybe, just maybe, I can provide some insight into the wild and wooley SMA world.

Today my blog is very straightforward. It concerns a possible treatment for SMA. This is exciting news, as currently there is no cure or treatment for those with Spinal Muscular Atrophy, no matter what classification (type) of SMA someone has. So basically there's this drug called nusinersen. This drug is in phase 3 of testing with SMA Type I patients. Type I is the most severe form of SMA, which happens to be the type of SMA Colby has. According to an article released by curesma.org, “the analysis found that infants receiving nusinersen experienced a statistically significant improvement in the achievement of motor milestones compared to those who did not receive treatment.” And if I'm understanding correctly, nusinersen will soon be ready for FDA approval. This would be the first drug on the market for the treatment of SMA! And of course FDA approval takes months, if not years, to come to fruition. But hey, this is the most hope for an SMA treatment or cure I've heard of in 13.5 years! So for today, let's just be thankful a cure or treatment for this horrible condition is at least being investigated and on the horizon! Never give up hope!

What does this mean specifically for Colby? I have no idea. To the best of my knowledge there are no drug or therapy trials for older SMA Type I patients. Will he ever be considered as a candidate for a medication trial? I have no idea. Honestly, I didn't think a treatment or cure for SMA would ever come around in Colby's lifetime. But then again, if being completely honest, I never thought Colby would make it to 14 years old! So what do I know? I just know I pray daily for a cure so SMA will disappear completely and families won't have to deal with the overwhelming struggles so many other families have had, including our own. Go nusinersen, go!!!