STAR child Aubrey sitting on a bench in a sunflower field smiling.


This is the English version, you find the original version below

We are the LeBlanc family!

We live in Atlanta, Georgia and have two beautiful girls named Aubrey and Payton. Our youngest daughter Aubrey has FSASD (Salla Disease) which causes problems with walking, talking, fine motor skills, and even chewing. Aubrey has therapy 6 times a week (physical therapy, occupational therapy, hippotherapy and speech/feeding therapy) and sees a multitude of different specialists to monitor her health and manage her symptoms. Just last year we were sad to discover that Aubrey had developed seizures. 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 the pediatrician, he referred us to a 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. We took Aubrey to Emory for the genetic 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. Aubrey was diagnosed with Salla disease, an extremely rare and degenerative disease where the body does not properly break down Sialic Acid causing a multitude of debilitating handicaps. In severe cases individuals with Salla pass away in childhood while others don’t survive past early adulthood. It was difficult to learn that there were no research trials being conducted and no foundation to turn to. We felt completely hopeless and very alone.  

Shortly after Aubrey was diagnosed, we found a Salla support group online. We began to feel encouraged and reached out to the other families to learn more about the disease. One of the families we met was the Foglio family from New York. Their son, Ben had recently been diagnosed, and they decided they were going to start a foundation for Salla disease! For the first time since Aubrey’s diagnosis, we began to feel hope for the future. A few months later, the Salla Treatment and Research (STAR) Foundation became an official registered 501(c)3 charity! We were thrilled to begin the journey towards a treatment!  

Since the birth of the foundation, STAR has grown tremendously! Our family tries to stay very active with STAR! I work hard to educate others about this incredibly rare disease and fundraise while Adam serves on the board. Our greatest wish is to find a treatment that will reduce the progression of this disease, so our sweet daughter can live a long and fulfilled life.

Aubrey, we LOVE you, and we are fighting for you every day!

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