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Kenzie Blake Prevails: an SMA survival story

Kenzie Blake Prevails

When Kenzie was 5 days old, we found out she was born to die young. When Kenzie was 7 days old, we found out there was hope. Everyone has their story or maybe something you would call a defining life moment. This was ours. It has taken us a while to share more widely, not because we “mind” sharing, but because to express the magnitude of what happened and the series of blessings that ensued has not been an easy task! Bare with me.
 
After a completely normal first pregnancy, Kenzie Blake entered the world looking pretty similar to any other baby. When she was 5 days old, we were informed by a hospital pediatrician that she was positive on the Missouri State Newborn Screen for a genetic disorder called Spinal Muscular Atrophy (SMA). We had never heard of it, nore did we have any known family history of it. The doctor told us not to google it and to wait to speak to a specialist at WashU to find out more. We googled it. It was terrifying. I still don’t regret it.
 
When she was 1 week old we found ourselves in a pediatric neurologists office, being informed that additional testing confirmed this was not a mistake. Despite her relatively normal appearance, she was officially diagnosed with SMA Type 1. This is the most common and one of the most severe forms of SMA. For a more complete explanation of SMA visit https://www.curesma.org/. Basically, she lacked a critical gene which produces the proteins which feed your motor neurons which move your core muscles. Without enough fuel, those motor neurons die. Motor neurons are critically important for everything that keeps you alive, such as walking, sitting, breathing, eating. Traditionally individuals with Type 1 SMA are never capable of sitting up independently and die around 2 years of age.
 
I mentioned hope. Don’t worry it is coming. So here’s the thing….even though it is a rare disease, SMA is just common enough (affecting 1 in 11,000) that Kenzie’s birth was preceded by many others born with SMA. This means an entire small-but-mighty community was already doggedly working to treat and even cure SMA before we knew it even existed. On the same day as our sweet 1 week old baby was officially diagnosed (really within hours), Kody and I made the decision to treat Kenzie with a newly available gene therapy. People might think “wow, that must have been such a difficult decision”! It wasn’t. You treat SMA and you treat it as fast as the system allows or they die. You have no choice but to trust, and fight, and hope those around you will support you in your efforts. So we did.
  

When she was 4 weeks old she received a one time ZolgenSMA infusion, which very simply provided her with the gene she wasn’t born with naturally. It very literally saved her life. As a result she continues to grow, hit milestones that she never would have, and delight us every day. Now 2 years later I look back on what happened and I am amazed. A very specific series of miracles, blessings, positive universe forces, lucky events or whatever you want to call them had to happen at just the right time for this outcome to happen. Some examples:

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✝ Blessing 1: ZolgenSMA was fast tracked for approval by the FDA and officially approved in late May 2019. Kenzie was born about 5 weeks later. This to date is the most non-invasive treatment available to those under 2 months of age. There was 1 other treatment which had been approved in December 2017, but required spinal taps every few months. If Kenzie had been born just a few weeks earlier Gene Therapy would not have been an option. If we had her a few years earlier we probably would have had to watch her die.

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 Blessing 2: When Kenzie was born we lived in Missouri, only 1 of 3 states at the time of her birth which had included SMA on the Newborn Screen. Kenzie was born within weeks (maybe even days) of Missouri adding SMA to the state Newborn Screen. If she had been born any earlier or even in one of our home states like Texas or California we would likely have not diagnosed her until irreversible damage to her motor neurons had occurred, changing the outcome drastically.

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✝ Blessing 3: When Kenzie was born our health insurance was covered by one of few companies that was unconditionally approving ZolgenSMA, so we were able to treat rapidly in stead of fighting for coverage. In a disease where time is of the essence weeks and even days can make a difference. I am forever grateful for our time with United Healthcare and their willingness to approve the most expensive drug in the world for Kenzie (a small one time fee of $2.2 million). About 6 months later my employer switched us to a different insurance company; one I had heard was not as rapid to approve Zolgensma around the time she was born (although they do now).

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✝ Blessing 4: Of all places Kody and I could have ended up in life, we settled in St. Louis near WashU/Children’s Hospital which houses some of the nations foremost medical researchers in SMA and experimental treatments. A large majority of research trials for revolutionary drugs (like ZolgenSMA) were conducted here at WashU/Children’s. We were in good hands from the start and are forever thankful for the entire medical team that has been with us since we walked bleary eyed and stunned into their offices with a 1 week old newborn, not knowing what to expect. I cannot even begin to express how much of a positive impact this group made. They were honest, upfront, and pushed the system hard to get Kenzie what she needed. I am so, so very thankful for this team. We were also introduced to some pretty amazing physical/occupational therapists along the way as well. Words. are. not. enough. here…… but simply put……Thank you <3.

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✝ Blessing 5: In August 2020 an oral daily drug was also approved for SMA patients. Even though denied by insurance for coverage, Genentech has been providing us with the drug as part of their assistance program since October 2020. While we cannot be sure, it seems this drug has worked in combination to provide her with additional strength allowing her to now walk independently like other kids her age.

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So there you have it. If you know us and are saying “gosh, I didn’t know” it is ok! Please forgive yourself. It isn’t the kind of story that just “comes up” in every day conversation. Ultimately, one of the driving (non-ethereal) forces behind much of the above was a nonprofit organization called Cure SMA. In the 1980’s a group of parents who had been affected by SMA gathered together to form this organization, with the simple mission of curing SMA! As a result of the lobbying and support of CureSMA along with tireless efforts of medical researchers and pharma companies, 3 new effective treatments have been approved by the FDA since 2017. This is cutting edge research which changes lives and is also being used as a foundation to develop treatments for other neuromuscular disorders. Our hope is to continue to fundraise over the years to support this incredible organization and their mission. I am also incredibly thankful to be partnered with Centerline in our first fundraising effort! Even though only 1 in 11,000 are affected, 1 in 50 people are carriers of SMA. Many may never know it. Others have felt the pain of loss because of it. And then you have us, the unwitting benefactors of years of hard, selfless work who get to have hope.  

💜Sydney, Kenzie’s Mom💜

 

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