Second in a series. Read part one. Seventeen years ago right about now, my wife, Donna, and I sat dazed in a Delaware hospital as a surgeon explained that he had been forced to abort the spinal fusion he was performing on our daughter Abby because she’d gone into…
Discussion
Taysha Gene Therapies is preparing for the potential commercial launch of TSHA-102, its experimental gene therapy for Rett syndrome now in pivotal clinical testing. To support the potential launch, Taysha recently announced a commercial supply agreement with Catalent, a pharmaceutical manufacturing company. Under the agreement, Catalent will be…
Discussion
First in a series. These days in our household, we refer to August 2009 as “the worst summer vacation ever.” It’s a grim sort of joke. There was no vacation that August. There was an operation that was supposed to keep our daughter, Abby, who has Rett syndrome, in…
Discussion
Registration. Physical. Supplies. Even though there is still over a month left of summer, I’m already preparing for the start of a new school year. I’m not only getting myself ready, but also my daughter and my students. My daughter, Ryan, has her sports physical completed by mid-July so there…
Rett syndrome is a rare genetic disorder that mostly affects females. The disease is characterized by normal early development, followed by slowed growth and a loss of motor control. Learn more about the disease here.
Most cases are caused by a mutation in the MECP2 gene. Scientists have identified mutations in CDKL5 and FOXG1 genes in those who have atypical or congenital Rett. Learn more about what causes the disease here.
Rett syndrome is associated with problems in cognitive, sensory, emotional, and motor skills, and across the nervous system that controls involuntary (or autonomic) functions. Learn more about the symptoms of the disease here.
Get regular updates to your inbox.
