RUSP Presentation -Kim

Hello, my name is Kim Tuminello and I am a mother of 2 children with GAMT. I’m also the President for the Association for Creatine Deficiencies and I’m here today to represent my family, and our entire Creatine Deficiency Community. I’m hoping that if you didn’t know about this particular genetic disorder in the past, that you now have a better understanding of this severe neurological disorder that is devastating in every way. However, GAMT is completely treatable, but ONLY if it is caught at the beginning of life.

It has been proven in studies, that a Newborn Blood Spot can detect the elevated Guanidinoacetate level. We know from Utah’s pilot of Newborn Screening this past year of GAMT, that there are no gaps in evidence, and no False Positives. We also know from a study at Duke, that there are no false negatives.

There is a safe and viable treatment that is a life-altering therapy. Our children simply drink a cocktail of Creatine, Ornithine and Sodium Benzoate 3x/day. Along with a moderately low-protein diet, this simple therapy saves them from a life of hundreds of seizures in a day, the inability to communicate, and being strapped to a wheel chair for the rest of their life.

My 10 year old son, Ty, was not diagnosed until he was almost 10 months old. I guess we are considered one of the lucky ones, because we got an earlier diagnosis than most. But Ty has gone through YEARS of Physical Therapy, Occupational Therapy, Vision Therapy, and today, he still continues to be in Speech Therapy through our school district in San Diego. But because we knew to test for GAMT, my daughter Paige is now a typical 6 years old, in the 1st grade, and has never had a day of therapy OR intervention.

Last year, my daughter’s kindergarten did a project in class for her school’s Open House, and was asked to write about something that meant more to them, than gold. I couldn’t be at the Open House because I was in Utah for the American College of Medical Genetics meeting, spreading awareness and educating physicians and about Creatine Deficiencies. I received a text from another mom, who had taken a picture of what girl had written, and it said “My medicine means more to me than Gold, because without it I couldn’t walk or talk.” It’s just that simple isn’t it? It should be but we understand that it’s not, but the cost of this life saving treatment is practically nothing! In matter of fact, the cost is so inexpensive that even if a family didn’t have insurance coverage of their own, they could probably still afford to go to their local Whole Foods and supply their child with creatine for around $20/month!

Everything needed to treat this debilitating disorder, could literally be ordered off of Amazon. To think there is a family out there who believes they are just one of the statistics in the Autism community…that their child has unexplained seizures, and slowly, or sometimes rapidly, continue to watch their child slip away…And all they had to do was simply go to their local GNC, and pick up something that would literally change the future of their child, in every way imaginable.

Labs across the country, already have the tandem mass technology needed to start testing for GAMT today. Even with second tier testing, it estimated that the cost adds up to only be .49/child. I’m sure every state will be happy to have this on NBS, in comparison to the millions of dollars that would be spent over the lifetime of the child in school, special services, and eventually being turned over to the state, to receive a long term care.

Well, I have good news! GAMT is exactly the type of treatable diagnosis that RUSP is looking for! All of us here today have had many physicians who have said “this should be a slam dunk / a no-brainer” and I certainly believe that to be true also. We all know that you all have an awesome responsibility here, but also an amazing opportunity to save these children and their families from the unnecessary heartbreak of GAMT.

The Association for Creatine Deficiencies has built a strong patient advocacy network. We help families with resources and programs such as patient grants, if they are not be able to afford the treatment themselves. And our community knows that they can depend on us to get the job done. Each of these mothers you see here today, ironically left their families on Mother’s Day, to drive from the far Northeast, or fly across the country for this meeting today…for our few minutes to tell you about this rare, but treatable disorder, our children, and most importantly, to save other children in the future.

Thank you for your consideration!

 

Disclaimer: All thoughts and ideas expressed in the Creatine Community Blog represent the individual blog contributor's opinions and not those of the Association for Creatine Deficiencies. The ideas expressed in the Creatine Community Blog, and any other locations on the creatineinfo.org website, should never be construed as medical advice, even if the information relates to actual health care experiences of the contributor. Individuals should always follow the instructions of their physician and make no changes to their care unless instructed to do so by their physician.