Family raises awareness for baby’s rare disease
When little Salem Marra was just six months old her parents, Joseph and Breanna, received devastating news. Their beloved baby girl had Leigh syndrome, a rare and lethal genetic disorder.
Breanna’s first concerns about baby Salem started during her first two months of life when she would have trouble feeding. She would gag and choke and sometimes had a hard time catching her breath. As part of her medical workup, Salem was seen by GGC’s Dr. Richard Schroer who, suspecting a mitochondrial disorder, ordered genetic testing. The test revealed that Salem had a change in a mitochondrial gene, mtATP6, which was found in all of her cells.
Mitochondria are the powerhouses of the cells. They produce the energy required by cells to do almost everything. When the mitochondria don’t function properly, the cells and the body are deprived of energy causing a variety of issues including feeding difficulties, poor muscle tone, lethargy, seizures, and developmental delays. Over time, the lack of energy output damages or destroys cells, especially those of the nervous system which require large amounts of energy to function properly. The average lifespan for a child with Leigh syndrome is just 2-3 years.
“The hardest part is walking around with smiles on our faces not knowing when our last moments with her could be,” shared Breanna.
Breanna carries the same mutation as Salem, but because it is only present in about half of her cells, she is able to produce enough energy to remain asymptomatic.
With mounting medical bills, the Marra family started a GoFundMe account and shares Salem’s story on social media to raise awareness for this rare disorder.
“We just want to bring a focus to rare diseases to hopefully get more research,” said Joseph. “It might not help our daughter, but if it helps somebody’s children in the future, then we’ve done something good.”
While there is no cure for Leigh syndrome, Salem, now 9 months old, has a G-tube for improved nutrition and is on medication to help control seizures. GGC also prescribed a compounded vitamin and supplement mixture that has shown benefits in supporting mitochondrial function to delay the onset and reduce the severity of some symptoms. Unfortunately, the family’s insurance does not cover a pharmacy that can provide this mixture, and Salem’s care team nominated the family for support through the GGC Cares Fund.
The GGC Cares Fund is an initiative of the GGC Foundation that provides financial assistance for genetic testing, care, and treatments for families who are uninsured or underinsured.
“After struggling with the family’s insurance company for several weeks, we made the decision to nominate Salem for the Cares Fund, and within the day they were approved for a full year of coverage for the supplements,” said Alli Davis, a genetic assistant in GGC’s Charleston office who has been assisting the family. “We are now able to fill the prescription with a local pharmacy that is able to ship the medication straight to the family, saving them nearly $4,000 in medical costs.”
“The Cares Fund has provided our daughter with the chance to begin taking the supplements needed so that her mitochondria can have extra help in doing what they naturally should be doing, but can’t,” said Breanna. “Fighting with insurance companies has discouraged us in a way that I cannot describe, but the Cares Fund took that worry away at least for the next year.”
“We are forever thankful and grateful for GGC,” added Breanna. “Everyone has been so nice and understanding, and they are helping our daughter to continue to thrive by being able to take these supplements.”
You can follow Salem’s story on a Facebook page managed by her family.
To support GGC families like the Marras, give to the GGC Cares Fund here or contact the GGC Foundation at (864) 388-1801 to learn more.
Salem’s parents and sisters in “her fight is our fight” t-shirts