SMARD

This is the information I have on SMARD from other families that have had a SMARD child, I hope it helps.

Spinal Muscular Atrophy with Respiratory Distress (SMARD) is part of the Spinal Muscular Atrophy family of disease. It is a motor neuron disease, meaning there is progressive destruction of cells that control motor function, such as breathing and speaking. Cognitive function is unaffected. Like all motor neuron disease, there is no cure. 

SMARD is a life-threatening motor neuron disorder.  Symptoms of SMARD are commonly seen within the first six months of life. Because SMARD undermines voluntary muscle function, infants who inherited a defective gene from both parents may be unable to lift their heads or may have other mobility limitations. Their inability to breathe or cough makes them susceptible to pneumonia and other respiratory infections. Children with the disorder stop breathing due to a paralyzed diaphragm and often die in their sleep. As a result, many children with SMARD never see their first birthdays.

SMARD is an autosomal recessive disease, meaning both parents carry the mutations that cause SMARD. Testing is done through blood work and was, until very recently, unavailable in the United States.
It usually takes up to 3 months to get any testing results back- Declan is different because so far they can only find ONE mutated gene and for SMARD you usually have two.
How is it different from SMA? SMARD is caused by mutations on the IGHMBP2 gene, whereas 'regular' SMA is caused by mutations of the SMN gene. SMARD typically attacks breathing musculature first, and moves to other muscles. Every living child with SMARD is trached and ventilated--without the diaphragm these children cannot breathe.

SMARD is little understood and even less known. Since IGHMBP2 is such a 'newly' discovered gene, there is not a lot by way of information about SMARD (and what is available is scary or requires an MD to understand). As far as we are aware, there are only maybe 60 diagnosed cases in the world. (<---may have gone up)

With SMA- roughly 1 in every 10,000 children are born with this disease.
With SMARD- roughly 1 in every 1,000,000 (if that) are born with this disease.

1 in 40 people are carriers of the SMA gene.
1 in 50,000 are carriers of the SMARD gene.

For future children we have a 1 in 4 chance they will have SMARD.
There is no way to stop it. There is no way to help it. There is nothing that can be done.
These children are dieing. They will not live a long life.
Thankfully an amazing man has taken it upon himself to be the first person to ever start research on this horrible disease. I took this from the Jackson Laboratory website to explain were we are with research.

Research

Professor Greg Cox, Ph.D., and his research team within The Jackson Laboratory in Bar Harbor, Maine, is one of the few genetic scientists committed to better understanding SMARD—spinal muscular atrophy with respiratory distress. This rare motor neuron degenerative disorder is a devastating scourge for the children and families who are coping with it.

“As genetic diseases go, SMARD is the rarest of the rare,” Dr. Cox says.  “It’s a very early onset and very rapidly progressing motor neuron disease. One of the nerves affected is the phrenic nerve, which impacts the diaphragm. When the diaphragm is paralyzed, you lose the ability to breathe and, survival requires a ventilator.”

Jackson Laboratory research utilizes a laboratory mouse model of SMARD, which emerged as a spontaneous mutation within the massive vivarium maintained in Bar Harbor to study an extensive array of human diseases. It’s the only mouse model of the rare disease, and it’s a key tool used by the few researchers worldwide who are exploring potential therapies that would modify or neutralize the defective gene that underlies SMARD.

“This mouse very closely models the progressive loss of motor neurons seen in the human disease,” Dr. Cox says. “There is one area where the mice seem to differ; the phrenic nerve is less severely affected. While the mouse model doesn’t exactly match the pattern we see in human patients, it’s the best tool we now have.”

Dr. Cox is eager to advance his SMARD research by studying motor neurons from mouse stem cells to determine if the disorder can be reproduced in a system that can be directly observed. He also wants to expand this work to use cells derived from human skin tissue, which would allow human forms of SMARD to be cultivated in a laboratory setting, offering the opportunity to test the efficacy of various genetic modification strategies. That work will require additional funding.

To make a donation for SMARD research please go HERE. Every dollar helps. No other parent should have to know they will see the end of their child's life.