I have an ALS-like disease called SMA type III. It's a progressive neurodegenerative disease and there was no cure until recently. I have been waiting for a cure for forty years. Thanks to technological advances in medicine, a pharmaceutical company in the USA developed a cure based on antisense oligonucleotide technology. Its name is Spinraza, it's proved to be effective in treatment and FDA approved it, it's on sale now but it's the most expensive drug in the world, about 75000$ per vial and I read that I need 8 intrathecal injections at least. Since it's at exorbitant price I need to look for alternative medicines.
Let me give a brief info about my disease:
It affects motor neurons in the spinal cord. Unlike ALS, upper motor region in the brain is not affected. And unlike ALS, the cause of the disease is known. I began to feel the symptoms when I was three years old. I had weak muscle tone, weakness and atrophy developed, so I can not use voluntary muscles effectively, I needed to exert much efforts to do simple movements in the early stages of the disease.
What reduced me to paralysis stems from deletion of codons from SMN1 gene located in 5th chromosome at 5q13 locus. Luckily another identical backup gene exists in the same chromosome called SMN2 but it unluckily has a single nucleotide transition from C to T in exon 7 region of SMN2, so it gives rise either to the loss of an SF2/ASF–dependent exonic splicing enhancer or to the creation of an hnRNP A/B–dependent exonic splicing silencer.
As a result of that mutation, SMN protein can not include the "end parts" named exon 7 so it produces short-lived not fully functional protein which is essential for motor neurons.
Clinical trials concentrated on splice modifiers to include exon 7 during pre-mRNA and mRNA process. Trials proved that it's feasible. Another treatment approach is gene therapy.
What do you propose in my situation?
EDIT: I rearranged the question according to request from moderator.
