RUSP Presentation – Heidi

RUSP Presentation – Heidi

Hi. My name is Heidi Wallis. I am the mother of four children- two with GAMT and two without.

There are a few things I want to be sure you understand about children with GAMT. First is that they do not look different. They are not instantly recognized at birth as having GAMT. I tell you this, because the burden of diagnosing these children should not be on their primary care physician. Also, not every GAMT child develops symptoms that are alarming in the first few years of life. My oldest daughter, Samantha, was slow to reach milestones, but for example, she did finally walk at 18 months. This was “just barely good enough” I was told. She did not have floppiness or movement disorders. And until she turned five, she did not have seizures. At three she was diagnosed “barely” on the autism spectrum and we were given a list of resources to go home and figure out how to live with this new diagnosis.

We, as her parents, knew something more was going on, but again, it was not obvious or alarming enough for anyone to take our “feelings” seriously. Thankfully at five the onset of seizures ended up getting her an MRI along with spectroscopy and that is how her creatine deficiency was finally noticed. Sheer luck led her to a GAMT diagnosis and treatment. NOT unique symptoms or dysmorphic features.

Secondly, I would like you to know that treating a GAMT child from birth does not just help them. It does not make life just a little better. IT ABSOLUTELY SAVES THEIR LIVES. My son Louis was diagnosed at birth. As I have watched him grow from a tiny baby to the 4-½ year old preschooler he is now, treatment for him has been nothing short of miraculous.

Louis is full of joy, intelligence, creativity, love and affection, imagination and music. He scores in the typical range in cognitive testing. He sticks to a regular RDI of protein every day, no over-indulging, and he has to put his playtime on pause four times a day to take a quick syringe full of these readily available and affordable powders mixed with water. It’s pretty simple.

Treating a child with GAMT later in life can HELP them. Samantha went from a five year old that could only approximate a handful of words to having lots of actual speech. She can ride a bike. But here’s the problem. Her IQ tests very low. Her speech is not always understandable. Not the pronunciation, but the content. I don’t know what she is trying to say to me. It is often meaningless, or quoting movies. She can ride a bike, but not independently. She crosses lanes without looking for cars, she is reckless and tries to take off on her bike alone and will get lost. She has IMPROVED and I am grateful that she has come as far as she has, but she will continue to suffer because of her late diagnosis for the rest of her life. The damage has been done.

I ask you to please understand that there is not a second option for children with GAMT. They must be diagnosed at birth and treatment is successful. No question about it. Please recommend GAMT for the the Recommended Uniform Screening Panel.

Thank you.

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