The ups and downs experienced when a terminal disease diagnosis has been handed to your child is more than a roller-coaster. It is ride of unimaginable highs and lows.
Hearing of a child with SMA Type 1 who seems to be making progress elicited a tremendous high for us.
We received no specifics beyond that. We do know that doctors are making excellent progress in terms of helping people with neuromuscular diseases.
We spoke with our pediatrician today as well as continuing our own research. Currently there are no treatments or cures for SMA...it remains classified as a terminal disease...however, there are therapies.
There are drugs that minimize pain. There are procedures~such as surgery for scoliosis and other problems associated with SMA, there are acupuncture sessions, there are even stem cell research facilities in China.
The "high" we experienced was not lost from our conversation with our doctor. In fact, it was a glimmer of hope. It allowed us to feel a sense of hopefulness that seemed to elude us since July.
Researchers are working around the clock to find a cure. They are relentless in their endeavor.
They know the chromosome that houses the gene that produces the protein responsible for motor neuron survival.
They know people with SMA have a deletion or mutation of this protein, which leads to motor neuron death.
They know there are "back-ups" of the gene in everyone. These "back-ups" are not sufficient to stave off the neuron death.
Their current approach is to "turn up" the expression of these "back-up" genes; thereby coming closer to what the original protein would have done.
They are so close, on the brink if you will. There is legislation in Congress~an Acceleration Act~to provide more funds for the research toward a cure. Hundreds of thousands of people are rallying with kids and families to put an end to this devastating disease. They are ever-hopeful.
