SMA Tissue Donation: Identifying New Targets for Therapeutic Intervention
You know all too well how cruel SMA can be and how frustrating it is not have any effective treatment or cure for the most common genetic cause of death in infancy. We desperately need to better understand the basic underlying neuromuscular problem in SMA to identify targets for future drug development. We still do not understand why all muscles are not equally affected in SMA and what makes some muscles more susceptible and what protects other muscles.
Additionally, new evidence from studies at the Columbia University Motor Neuron Center suggests that the neuromuscular junction (where the nerves meet the muscle fibers) may be critically involved in the disease development. If this is true, finding ways to preserve the vulnerable neuromuscular junction using medications available for other similar diseases would provide a novel strategy to develop an effective treatment for SMA. However, addressing these scientific questions has been extremely difficult because the necessary studies of the neural tissue and muscles in SMA patients cannot feasibly be done on living patients.
As parents of a child with SMA or spinal muscular atrophy with respiratory distress (SMARD), you are in a unique and powerful position to help other present and future patients with SMA/SMARD and advance our scientific understanding of SMA/SMARD. All of us hope our children will be with us forever. However, if your child should ultimately succumb to SMA or die in an accident or due to other causes, donation of samples of tissue could provide the precious materials necessary to provide hope for other children and their families.
After the child dies, the procedure of tissue donation involves taking pieces of the spinal cord, nerves, muscle of breathing, and muscles from the legs. Ideally, this is done within 6 hours of the time of death whenever possible. If the child does not die at our hospital but is in the NY city area, we will arrange to have the body transported to Columbia and then transported to the funeral home afterwards. If you live outside the NY area, we will arrange for the tissues to be collected at a hospital near you. The incisions necessary to collect the tissues will all be covered and will not be visible at the time of the viewing or funeral services. The procedure will not delay the funeral and can be done 365 days of the year.
If you tentatively would allow tissues to be collected in the event of the death of your child, we will provide you with contact information to notify our on call team when the time comes. We will also give you a form to sign to provide written permission for an autopsy. In your case the autopsy will be performed not to establish the cause of death, but simply to allow us to collect tissues for research.
Please discuss this in detail with your spouse and family members if you are considering tissue donation. Together we hope to provide better treatment options for this cruel disease and we are very grateful for your ongoing support.