A MESSAGE FROM THE LeBLANC FAMILY
We are the LeBlanc family! We have two beautiful girls Aubrey (19 months) and Payton (4 years old.) Our daughter Aubrey has Intermediate Severe Salla Disease.
Aubrey is the happiest child! She smiles and waves at everybody she sees! Aubrey wears pink glasses to correct her vision. She has therapy 6 times a week (physical therapy, occupational therapy, and speech/feeding therapy) and sees 6 different doctors on a regular basis to monitor her health including a pediatrician, ENT doctor, ophthalmologist, gastrointerologist, neurologist, and a genetics specialist. Aubrey is one busy girl! She has also had countless medical tests including organ scans, MRIs, blood and urine tests, a swallow study, and an upper GI study.
Our sweet Aubrey was born in Berlin, Germany in October of 2016. She was a happy healthy baby! When Aubrey was around 6 months old, we noticed she wasn’t meeting all of her milestones. Her muscles seemed weak, and her eyes were shaking from side to side. We saw several doctors, but no one seemed to think anything serious was wrong. The ophthalmologist diagnosed Aubrey with nystagmus but said it was probably unrelated to any larger issue. We started taking Aubrey to a therapist to help her build her strength and went back to life as usual even though we worried that Aubrey still wasn’t crawling or sitting on her own.
We moved back to the United States in July of 2017, and after sharing our concerns with Aubrey’s pediatrician, he referred us to a pediatric neurologist. A few weeks later an MRI showed demyelination in Aubrey's brain, and we finally understood that we were dealing with something much more serious than just a developmental delay. At first the doctors believed Aubrey had Pelizaus-Merzbacher Disease which was very difficult to hear. They told us Aubrey would have a number of medical problems and may not even survive past childhood. We were devastated. They told us the next step was to do genetic testing to actually confirm the diagnosis. Aubrey’s pediatrician sent us to Emory Hospital for the testing, and we prayed we would finally get answers even though the doctors told us we had only a 30% chance of a diagnosis.
After 5 long months of waiting for the results, we finally had an answer, and it turned out to be different than the doctors thought. When we learned that Aubrey had Intermediate Severe Salla Disease, we felt very alone. The doctors explained that Salla is an extremely rare and progressive disease where the body does not properly break down Sialic Acid. None of Aubrey’s doctors had ever heard of the condition. We were told that there were only 200 people in the world with Salla and only a dozen or so in the United States. It was devastating to learn that there were no research trials being conducted and no foundation to turn to because it was such a rare condition. It was hard to not feel completely hopeless.
About a week after Aubrey was diagnosed, we found a Salla Facebook support group. We began to feel encouraged and reached out to the other families to learn more about Salla. One of the families we met was the Foglio family from New York. Their son, Ben had recently been diagnosed with Salla, and they decided they were going to start a Salla Foundation called A Star for Ben! For the first time since Aubrey’s diagnosis, we began to feel hope for the future! Now just a few months later, A Star for Ben is an official organization and the first Salla conference is going to take place this September in Tarrytown, New York! We are so excited to begin the journey towards a cure, and we could not be more grateful to the Foglio family for making it possible! Our hope is to bring a lot more awareness to this rare condition in the coming years. We just want to thank all of our family and friends who have prayed for us and supported us throughout this process. We couldn’t do this without you!
Aubrey, we LOVE you, and we are fighting for you every day!
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