Spinal Muscular Atrophy (SMA)

As most of you know sweet baby Avery passed away yesterday, April 30th. She would have been 6 months on the 11th. I have been debating about blogging about her story for a week or so but with everything going on here on our end I just have not had the time. Avery's story really touched me because only 6 months prior to Avery sharing her diagnosis, our family was personally affected by SMA, something I had never heard about. Now within 7-8 months I personally knew of 2 individuals who were diagnosed with Type 1 SMA. Who would have thought, 2 babies! After reading many stories posted today all over the internet about Avery's passing I came across some comments from several people that infuriated me. I know my blog is not by any means viral and that most if not all of you reading this have never thought this way but I just have to say a few (many) things because my heart breaks for these parents and if I heard/read anybody saying these type of things about my family....let's just say they wouldn't be reading this in a post.

 "SMA is the leading genetic killer of children under the age of two. It is a terminal, degenerative disease, that takes away a child’s ability to walk, stand, sit, eat, breathe and even swallow. It is usually inherited as an autosomal recessive trait (a person must get the defective gene from both parents to be affected). SMA type I, also known as severe infantile SMA or Werdnig Hoffmann disease, is the most aggressive form, and manifests in the first year of life. It is also the only type which comes with a terminal diagnosis. This type generally onsets quickly and unexpectedly after birth." (http://www.sophiascure.org/what-is-sma)

Even though I did know about SMA prior I do know that many had never heard of it. I am not a parent, however, I would imagine anyone who read her blog maybe wondered the same thing, "What would I do?" David and I both wondered that, when our family was affected with SMA. There are some of you reading this that loved what you read, had compassion for these parents and supported the blog. You Googled SMA, you talked about it with others, you smiled at Avery's life and you were happy to see her doing so much with the assistance of her parents, just living life to her fullest abilities. Then there were some that didn't understand how parents could blog about this, why would they do that, they were selfish, using her disorder to benefit them and/or doing nothing to help Avery medically. As if they had given up hope by creating this "Bucket List". There were many ugly comments about these parents out there in response to news coverage, but trust me for every negative person out there there were 10+ times more good, compassionate people. It angered me every time I would read the assumptions some would make without knowing the facts. Everyone is entitled to their opinion and they have the right to feel how they feel however, who is it for you or I to judge anybody on how they deal with something you know nothing about. To find out when your child is almost 5 months old that she may not make it to her 2nd birthday? These parents did ask the doctors if there was anything out there that could help her and the doctor told them no, there was no cure. To those that do know what its like to be told this news, why judge them? Avery had only been diagnosed 3 weeks and 3 days ago, how much did you know 3 weeks into finding out your news? I would imagine various people assisted you to find out needed information as well as you doing everything you could and researching the heck out of the possibilities. So before judging them I ask you, did you reach out to these parents, to other parents in your same boat and give them the same assistance you received or at least the assistance you wish someone would have offered you? We have to help educate each other because we all know doctors don't always tell you everything. I have children that come to us that could have been receiving ECI services immediately but a doctor never told them that. so 2, 3, or 5 years later they finally find out. Frustrating! It saddened me to read all the assumptions out there and criticism about these parents. If you haven't asked them directly, had a conversation with either one of them, then assume nothing. I assure you that every child with SMA type 1 is not the same and treatment could be totally different. I work with children with various medical conditions and eye disorders and I can tell you for a fact their therapy and medical recommendations are completely different even if they are diagnosed with the same condition. Every person responds differently to medical conditions and treatments, so what may work for one person may not for another. 

We do not know how severe Avery truly was. We don't know what the doctors said and every question these parents asked. And truthfully we have no right to know every detail and since we do not know every detail then we have no right to pass judgement or run their names through the grinder.

To me I feel Avery's parents were not doing any of this for personal gains or for self seeking reasons but rather exactly what they said in their blog. Spreading awareness of SMA. Before her blog how many knew of SMA? From the people that voted on her blog to this question 89% didn't have a clue, that's 119,376 people....um 119,376 people now know and have heard of SMA!! I find that awesome don't you!! Only 10% had heard about it (approx 13,870 people). So even if you did not agree with the blog (which is totally fine) can you argue with those numbers? In order to spread awareness you have to introduce people to what SMA is or nothing will happen. Why do you think organizations ask celebrities to speak and represent their causes? To bring attention to the disorder/disease/condition that they are trying to cure or raise awareness for. The Canahuati's are not famous, they are not filthy rich, they are 2 young parents who never knew this to be a risk, were never warned or tested for the SMA gene, who had a healthy baby girl and were just living life when life changed so quickly. They took a parents worst fear and dealt with it the best way they knew how. They had no idea how viral Avery's story would become, it got that way with the help of family and friends first before it ever hit the news. Avery's mother went to high school with me and graduated in my class. It was from several mutual HS friends that I had heard about Avery and decided to share her blog. Her parents (to my knowledge) never asked any of us to do this. I did not know her mother personally because we are from a huge high school class, however what I do remember of her from passing and other friends, she was a kind person to all. I would be completely shocked if she did any of this for personal gain. But even so, I give her and her husband many many high fives and praises for raising awareness, making woman start asking to get tested, encouraging people to ask your insurance about the test, getting people to Google this not-so-new condition SMA and for that I say Thank You to the Canahuati family! Avery brought SMA to the limelight, which we all know it needed. 

When our nephew was diagnosed, Dave and I were trying to have a baby. We had just started looking back into trying to conceive with the help of fertility drugs. Up to this point no OBGYN or nurse had ever mentioned genetic testing to me. So when I was made aware that we needed to be tested from my sister-in-law, I asked my OB. They did run the very easy blood test but let me tell you that there were a handful of nurses/lab techs that had no idea what SMA was. I'm not sure they really understood why I was having this test done. I was telling them the very little that I knew about SMA because they were asking me questions. Why do these individuals not know about SMA? I have no doubt it's being taught but is it really being discussed as much as some other syndromes like Downs? If it's not, then why not? I should not have to explain to my nurses why after my nephew being diagnosed, that I needed to be diagnosed since we were actively trying to conceive.  The lab tech had to look up in a book what the code was for SMA testing, which showed me that they don't order that test often. Then when I finally got my test results back, takes about 2 weeks, all they could tell me that there was a very low likely hood that I had the SMA gene. I asked them to give me a yes or no answer but was informed that they could not say that, just a low likely hood. It is sad that I had to request this test to be done and I am glad that the Canahuati family has been so persistent to encourage woman to request this test from their OBGYN's and encouraging OBGYN's to recommend the testing at all times. I would like to see fertility doctors recommend this test too.

I also ask that when you read life stories no matter your views on being medically proactive vs allowing the child/adult to just be comfortable that you be respectful and remember every situation is different.

Just so you know there are clinical trials and ongoing research out there. Here are just 2 sites describing 2 different (I think) ones. But there are several others out there.

1.  http://www.sophiascure.org/sma-research/gene-therapy-and-initial-fda-guidelines

2. http://www.businesswire.com/news/home/20120425005275/en/Repligen-Reports-Positive-Results-Phase-1-Clinical

Places you can donate or set up a fundraiser in order to help with further research with use of the following sites. There are many sites out there but these are the two I've looked through the most.

http://www.sophiascure.org/

http://www.fsma.org/

Another blog to check out:
http://thesuitelifeoflucyandethel.com/

Let's focus on spreading awareness and working as a team for the sake of all children past, present, and future that are/will be affected by SMA.

“Change will not come if we wait for some other person, or if we wait for some other time. We are the ones we've been waiting for. We are the change that we seek.”- Anonymous