Sophia was diagnosed with SMA type I at 5 weeks of age, after being dismissed by the pediatrician as she was “just a lazy baby”. SMA is a degenerative terminal disease, there is no cure and there is no proven treatments to help slow the progression of the disease. The body slowly begins to fail. The body does not produce a particular protein which enables the motor neurons in the spinal cord to survive. Eventually the muscles that were produced while in the womb will start to atrophy without the motor neurons to control them. SMA is a deletion of the Survival Motor Neuron 1 (SMN1) gene. Eventually the child loses the ability to eat, swallow and breath on their own. The child will never be able to lift the head, sit up, roll over, crawl or walk like any other healthy child. Even though the body fails, the mind remains unaffected. SMA children require around the clock care, treatment and monitoring.
Unfortunately SMA is considered an “orphan disease”, which means all money raised is through families affected by this disease in their quest to find a cure for their children, and it is not profitable for a pharmaceutical company to invest money into finding a cure or treatment. It is often overlooked and forgotten about amongst much more “popular” diseases.
SMA Statistics:
SMA is the leading genetic killer of children under the age of two.
SMA is estimated to occur in nearly 1 out of 6000 births.
1 in 40 people unknowingly carry the gene responsible of SMA.
2% of SMA type I cases happened when only one of the parents was the carrier.
The chances for parents (SMA carriers) to pass the gene along and/or having a child with SMA is 25% or 1 in 4.
The type of SMA is determined by the age of onset and the severity of symptoms:
SMA type 0, also Prenatal onset arthrogryposis multiplex congenital (SMA0), cause of miscarriage, stillbirth or a life term not longer than a few months.
SMA type I also known as Werdnig-Hoffman disease or infantile-onset SMA, most of the babies lose their battle during the first 6-8 months of life and not many will get to see their second birthday.
SMA type II is diagnosed after 18 months of age
SMA type III The first 3 years of age are normal, then it is diagnosed during childhood and early adolescence.
SMA type IV diagnosed between early adulthood and middle age.
Machines and Equipment SMA children should use to stay healthy:
Pulse Oximeter: Constantly measures her heart rate and oxygen concentration
Feeding machine: since SMA children can not swallow they need a feeding tube placed.
Cough assist: One of her most important machines, SMA children can not cough so they require the cough assist on them up to 3 times a day to keep all secretions out of the lungs, if the child was battling an illness this machine would be used every hour.
Bi-Pap: This machine helps SMA children breath, since SMA children can not use the muscles around their lungs to inflate them because there is no muscle so the machine inflates them for them.
Suction: This machine helps suction out all secretions in the child's mouth so they do not drip into the lungs. This machine is used all day long to keep the child's secretions in check.
Carrier Screening
Currently there is a simple blood test that couples can get to see if they are carriers for SMA. Not all doctors will automatically perform this simple blood test when a woman becomes pregnant, but you can request it.
Newly Diagnosed
Sophia’s Cure Foundation is dedicated to help families affected by this devastating disease. We know what it meant to our family to have someone going through the same experience to talk to, we also know how devastating and overwhelming this period is.
Your choice of care for your SMA child is a difficult and personal choice. Early care, feeding intervention and breathing assistance may prolong the life expectancy.
For additional information you can visit:
What you can do to help:
- Please join our cause and fan page on Facebook.
- Follow us on Twitter @sophiascure
- Organize an event to help support SMA, bake sales, walks, garage sales... every little bit helps.
- Spread the word about SMA, help us raise awareness.
Sophia's Cure Foundation is a nonprofit 501(c)(3) public charity, which was formed shortly after our daughter Sophia was diagnosed with Spinal Muscular Atrophy. The foundation was created to assist in funding for clinical research towards finding a cure for SMA and to offer support to families affected by this disease by providing advocacy, awareness and education. We believe every child affected by SMA should be given a chance to live a long and normal life.
All donations are tax deductible to the fullest extent allowed by the law. Our tax I.D. number is 26-4805139.
Sophias Cure Foundation
PO BOX 601
North Bellmore NY 11710