6 month old Rhys needs a life saving drug that costs $2.1 million. Follow Rhys’s story and current updates at www.RiseUpForRhys.org and on Instagram @RiseUpForRhys
In May of 2019 while on vacation in Scotland, Rory and I found out we were pregnant (though I already knew - mother’s intuition kicks in early!) Our baby girl was due on Christmas Day, and after a perfectly healthy pregnancy and 20 hours of labor, we welcomed her 3 weeks early on December 4, 2019 at 12:13pm. Even though I had sworn not to give my children confusing-to-pronounce Welsh names as my mother had done to me, we decided to name her Rhys (pronounced Reese). Overnight she made us a family, and even her fur brother Bruce was absolutely in love. (Jury is still out for Tony).
Rhys had been a healthy baby, loving her baths, walks outside, and cuddles and kisses from her doggies. As Rhys approached 4 months, that mother’s intuition was nagging me - I noticed that she seemed to be falling behind on milestones other babies her age were hitting. She always struggled with tummy time, and wasn’t able to roll over or hold her head up for very long. At her 4 month check up, our pediatrician said she just had low muscle tone and recommended physical therapy. At her next check up at 6 months, the pediatrician immediately noted Rhys’ lack of progression and expressed concerns that she may have Spinal Muscular Atrophy, a genetic condition we had never heard of before.
A quick Google search, confirmed every parent’s greatest fear: "The number 1 genetic disease that kills most babies up to 2 years old." Appointments with Geneticists and Pediatric Neuro-muscular Specialists were set, blood and saliva tests ordered, and the waiting began. We hoped it was something else less severe, easier to treat, less devastating. ANYTHING but SMA. After 2 weeks, the longest 2 weeks of our lives, we received the heartbreaking diagnosis - Rhys has SMA Type 1, the most severe form of the disease.
SMA is a terminal muscle degenerative disease, affecting eating, speaking, moving and even breathing. It results in muscle wasting where infants often die of respiratory failure before reaching the age of two. With SMA Type 1, each day means loss of specialized nerve cells, leading to muscle weakness and muscle cell death. It is so rare that just a few years ago, there was no treatment. Parents had to watch as their child was able to move less and less, becoming unable to eat and breath on their own.
There is no cure for SMA, but in the last 2 years, two life changing treatments have become available. One treatment, SPINRAZA, works on the SMN2 gene, which is a less active copy of the SMN1 gene (the gene that is missing/non-functioning in a person with SMA). By boosting production of SMN2, SPINRAZA supports muscle development and provides a level of improvement. SPINRAZA is very expensive at $750K in the first year and $375K every year thereafter for life. In August of 2019, a new gene therapy, ZOLGENSMA was approved by the FDA. It replaces the missing/non-functioning SMN1 gene with a new functional copy. This medicine provides life changing improvement, some patients are even able to walk independently. Such a miracle drug comes at a cost, and ZOLGENSMA is the most expensive drug in the world at $2.1 million USD.
Because SMA Type 1 is aggressive and degenerative, this is a race against time. With each day that passes, motor neurons in Rhys’ sweet little body are becoming inactive. All funds raised will go to Rhys’s medical care including gene therapy (out-of-pocket responsibility outside of insurance not known at this time), physical and occupational therapy, mobility and development equipment, etc. She has a lifetime ahead of her and will need continuous treatment for the best chance at a full life. In the case there are additional funds beyond Rhys’s needs, they will go to Cure SMA, an organization dedicated to raising awareness for this devastating disease.
Every child should have the best possible chance at life - please join us to surround our happy little girl in love and support. Rise Up for Rhys!!!
Find more info and stay tuned to www.RiseUpForRhys.com for updates. Share and invite others to support Rhys #RiseUpForRhys
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