A Personal Story of Therapies for a Toddler with SMA
Esther and Frank describe the therapies in place for their 2 year old daughter, Maeve.
So the therapies that are available or that we avail of for Maeve right now are physical therapy, speech therapy, occupational therapy. She has a busy schedule. She has always two or three things going on in a day and she gets benefit from them because the motor memory is very important for her in the absence of a -- right now in the absence of a viable therapy or cure. These are the things that will slow down the progression of the disease. She does respond well to them and the hope is that eventually that something will come about that's a viable therapy for her and we want to slow down things as much as possible.
Spinal muscular atrophy, SMA, RNA, mRNA, splicing, gene, genetic, DNA, antisense, motor neuron, splice, Therapy, Coffey, speech therapy, physical therapy, occupational therepy, range of motion
- ID: 16945
- Source: DNALC.SMA
- Download: MPEG 4 Video
An animation shows how antisense oligonucleotide therapy for SMA utilizes RNA splicing.
An animation shows how drugs for SMA may be delivered via infusion into the spinal cord.
A typical day in the life of 2 year old Maeve.
Drs. Sharp and Sumner describe how RNA splicing can be used as a therapy for SMA.
Dr. Sumner describes small molecule therapies for SMA.
Dr. De Vivo describes the current treatments and therapies for SMA.
An animation shows alternate splicing of the SMN2 gene.
An animation introduces DNA and the pattern of inheritance for SMA.
Dr. Sumner talks about gene therapy for SMA.
Esther and Frank describe their daughter’s progression since diagnosis.