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Savage Racing for Rare Diseases
It has been a few years since we hit the mud. Now it is time to do some savage running in November with my sister Jenn and nephew Charlie. Many obstacles and miles of running await us in Florida. In the past we have raised money for local charities for abused children and autism friendly gym memberships for underprivileged children. This time we are raising funds to something so very close to home, The Association for Creatine Deficiencies (www.creatineinfo.org). As you may or may not know, I have identical twin boys with a very rare genetic disorder. It is so rare that they may be the only documented case of twins identified with GAMT Deficiency.
What is GAMT you ask?
Guanidinoacetate Methyltransferase Deficiency (GAMT) is a mutation of the GAMT gene. The GAMT gene makes the enzyme needed to process the protein from the foods we eat into creatine. Creatine is an essential amino acid needed for normal development of our brain, muscles, and overall body. The absence of creatine will cause symptoms such as low muscle tone, delays in speech, weak fine motor and gross motor skills, seizures, along with intellectual disability, among several other traits. My sons, Logan and Lucas were diagnosed with autism at a very young age, as result of their undiagnosed GAMT Deficiency.
Over the years, my wife Jenny and I have spent our time shuttling our sons to various specialists, geneticists, and therapists to get the right diagnosis. We knew in our hearts that autism was not the answer. We finally got our break in 2016 when we met with a naturopathic DAN doctor, who recommended a simple genetic test for epileptics. We collected their saliva and mailed it off to a small unknown genetics testing company in Massachusetts, and we got our results 4 weeks later: GAMT Deficiency.
We were off to our children’s hospital with the results, and are now working with a team of metabolic specialists, nutritionist and neurologist to get them under a strict regimen of supplements and a restricted protein diet. This regimen is not to reverse any of the damage that’s been done in the last six years of their lives, but to prevent the progression of any further damage. They receive several forms of specialized therapies so that they can gains the skills needed to thrive in this world. We don’t know what the outcome will be from this treatment plan of supplements, diets, and therapy, but so far we have been pleased with progress they have made over the last two years.
This disorder, could have been detected early on with simple heel prick test during a newborn screening. If detected early enough, the outcome of normal development is highly probable.
Our goal is to raise awareness for GAMT Deficiency and the importance of including testing for it in newborns as part of the standard pre-screening process, not only in the state of Connecticut, but nationwide. The Association for Creatine Deficiencies was created to help bring awareness to this disorder. The costs they incur by attending conferences and traveling to various board meetings, to lobby for adding GAMT to the newborn screening is significant and donations are appreciated.
If GAMT can be detected early on, the damage can be stopped, saving children and families a lot of heartache and hardship, changing their lives for the better.
So please, help us to make a change and donate towards the efforts of raising awareness and the importance of adding GAMT deficiency to the newborn screening. It was a miracle we found it ourselves.
Please remember that most employers offer a company match towards your charitable donations. We thank you for your consideration in making a donation to The Association for Creatine Deficiencies https://creatineinfo.org/donate-disclosure/
Tax ID for matching gifts: 462133007