Naperville, IL, September 13, 2011 --(PR.com
)-- On August 12, 2011 the owners of Mama Bracelets, LLC, (www.mamabracelets.com) an online jewelry company, received news that their one year-old daughter has a rare genetic disease called "Spinal Muscular Atrophy" (SMA). This disease is characterized by the degeneration of motor neurons, subsequent loss of voluntary muscle control, and ultimately an early death. It falls under the same neuromuscular disease category as ALS (Lou Gehrig’s Disease).
Children affected with Type 1 SMA rarely make it past 2 years old. Children with Type 2 can make it into early childhood or early adulthood. Children with Type 3 SMA have a good chance of a normal lifespan as do people with Type 4. The different types are distinguished by age of onset.
SMA is the #1 genetic killer of children.
1 in 40 people are carriers of the recessive gene responsible for SMA.
1 in 6,000 live births are afflicted with SMA.
Michael & Lindsay were devastated when they found out that their child, Ella has this disease. "We knew something was wrong when she wasn't hitting the milestones a baby should hit at the 8-9 month mark," says Michael, "as time went on and tests were being done, we kept hoping and praying it would not be SMA."
SMA is a deletion or mutation of chromosome #5. This chromosome houses a gene (called SMN1), which produces a protein called SMN (Survival of Motor Neuron protein). SMN is responsible for keeping our motor neurons alive. Without the SMN protein, motor neurons slowly die and the muscles become useless and inactive; atrophy occurs rapidly. Breathing can be compromised since the muscles responsible for breathing become weaker over time. Infections set in easily and cause mortality.
"This disease is horrible as it slowly deteriorates the physical body," says Casten, "how does somebody watch their child slowly waste away?"
Mother nature has provided back-up copies of the deleted or mutated gene called SMN2. These back-up copies also produce the protein (SMN) but in much lower quantities (each copy can produce only 10% of what the original gene would have produced). The more copies an SMA patient has, the less severe the expression of the disease.
The Casten's daughter has three copies. This is still not sufficient for normal survival, as a person would need to be producing (at the very least) 50% of the normal amount.
Michael & Lindsay, owners of Mama Bracelets, have supported several causes through their online business. Their first fundraising efforts went to support the rare disease, Rett Syndrome. From there they launched a campaign to help raise funds and awareness for SIDS, Autism, and Lung Cancer. Their focus now turns to Spinal Muscular Atrophy.
"This is a personal endeavor,” explains Casten, "we have designed three beautiful bracelets that will carry a 30% of sale donation directly to FSMA (Families of SMA) to help with research efforts and family support systems. We know the medical community is close to finding effective treatments and possibly a cure for this disease."
The latest research is focusing on the back-up copies. Their theory is that if they can somehow "turn-up" the SMN2's ability to produce more than just 10% of the SMN protein, then kids would be able to survive, possibly reversing the atrophy and loss of motor function. They have been successful in lab mice and hope to get human trials started soon.
"We have to help them raise awareness and money," says Casten, "for our beautiful daughter and all the kids and families out there affected by SMA. They are so close, we have to help them."