This is the story of a type-A rare disease mom who tries for years, but can't undo her daughter's brain damage, so she sets out to stop other children from facing the same fate, and learns in the interim that "giving up" is just what you need to do sometimes.
Heidi Wallis is the mom of four children and two of them have a very rare genetic disease called GAMT Deficiency. The disease has two outcomes- severe intellectual disability and epilepsy or a completely normal life, all tied to how soon parents know to start buying mail-order creatine. Heidi works full time for the parent-led nonprofit Association for Creatine Deficiencies, where she's been focusing her efforts for the last 8 years on the organization's vision of all children with creatine deficiencies getting diagnosed and starting an effective treatment plan in the first month of life. In 2023 GAMT was officially added to the U.S. Recommended Uniform Screening Panel, starting a new generation of GAMT patients without GAMT-caused disabilities. While no parent chooses to study for a Bachelors in Rare Disease Advocacy, when the need arises, they tend to earn one through the School of Hard Knocks. Heidi is committed to earning her Master's eventually!
Transcript
I'm the type of person that's stubborn. This means when life throws me a curveball, I don't admit anything is wrong. I put on my Type A hat and I get to work on fixing the issue. I don't say things like, “I need help.”
So, when my first child Sam was born, I was 27. Initially, she was doing great. We thought she was perfect. She smiled at us. She met some early milestones, but then things started slowing down. She did walk when she was 18 months and her pediatrician said that was just in time. If she had waited any longer, he would have had her go to physical therapy.
But as the next year‑and‑a‑half or so went on, Sam didn't make a lot of progress. At three, she wasn't talking.
So, the pediatrician sent us for a full workup and, by one point on the grading scale, she came back with an autism diagnosis.
We didn't know what this meant. Sam hadn't shown any of the classical signs of autism and she just seemed kind of locked inside of herself.
So, I put on my fix‑it hat and I found a developmental program to do with her at home, and we got to work. This program consisted of repeated activities throughout the day. Some of them as many as 50 times a day.
For example, I was giving her deep pressure hugs 50 times a day. I was flashing picture cards. She was nonverbal, but I was working with her to point to the right image. This went on and on for about two years.
During this time, when most moms were having play dates and making lifelong friends and their children were playing with each other, that wasn't happening in our house. I had two more children and, luckily, they were developing just fine, but we were pretty much shut‑ins. I was at home with Sam working hard every day and secretly filled with grief.
One day, we loaded everybody up and went to the grocery store. We went through the grocery store and pulled all the items off the list into the cart, but as we walked, Sam started melting down. By the time we got up to the front of the grocery store to check out, it was a full‑blown meltdown.
Everyone in the store was staring at us, and even my two younger children, who were only two and three years old at that time, looked mortified.
We loaded everybody into my arms, ran out the door, ditched the food and jumped into the car where I just cried for a few minutes. Once again, we needed to hide from society.
So, doubling efforts again. As we worked with Sam, she started to have little eye rolls and I was concerned. So, I reached out to the developmental group and they reassured me, “It's okay. She's nonverbal. She has to think in images. Just give her a minute.”
But one day, she climbed up onto a stool to get a cup out of the cupboard and she fell. I knew these eye rolls were more than just thinking.
We got quickly in with a neurologist who did a scan of her brain and saw that she didn't have a normal amount of creatine. That got us into a geneticist, Dr. Longo, who did the final testing and gave us the news that Sam had GAMT deficiency.
GAMT deficiency is pretty rare. It's a disorder where kids aren't able to make their own creatine. But the irony is that all they really need to overcome this when they're very young is over‑the‑counter creatine, the stuff that bodybuilders buy from health food stores.
And so after all these years of trying so hard and doing everything I could and listening to all of the advice from well‑meaning parents and pediatricians, we really could have prevented all of Sam's issues. We could have given her creatine.
Nobody told me that. There was no testing for this, this preventable and treatable disorder. So when I found out she had GAMT, of course, I thought, “Well, great, there's something I can do about this. She doesn't have creatine in her brain and we're going to give it to her.” And I doubled down my efforts.
I went ahead and mainstreamed her into school, because she was starting kindergarten right after the diagnosis, and a continued program at the same time. She had some pretty good gains right after she started the creatine. She went from nonverbal to people understanding her speaking in a whole sentence, but she hit a ceiling. Eventually, she reached about a first‑grade level of math and reading and continued to have issues with her speech.
When Sam was eight, I had my fourth child, Louis. We knew that we had this one‑in‑four genetic chance of Louis inheriting GAMT also, but we also knew that, most likely, he would be just fine if we found out at birth that he had GAMT. He did.
He was tested right away because of his big sister Sam. He is 12 now and thriving. He's never had any of the issues Sam has had. No seizures, none of the interventions. He speaks well and has friends and is unaffected, for the most part.
But during this time when Louis was born, Sam was still mainstreamed and school was getting way too hard. She was in third grade and everything was abstract. She was really just learning how to have behavior issues at school. She wasn't really learning.
So, I doubled down my efforts once again and I said, "I can do this better. You're gonna do homeschool now, Sam."
For a couple of years, Sam was homeschooled. And pretty much every day looked like feed the baby, get the other kids to school, back to Sam, do program, back to the baby, back to Sam. Our family was stretched really thin and I couldn't see straight. We were definitely in survival mode.
When Sam was 11 and Louis was three, it was time for our annual geneticist visit. I remember this visit really well. We were in the cold, bright, white room waiting for a while for Dr. Longo to come in and Sam was starting to melt down. She was miserable and whining and melting onto the floor.
Looking back, I have no idea what Louis was doing. He was probably sitting perfectly happy on my lap, but all I can remember is Sam and that a big crowd of strangers came into the room with the doctor because here we are, the family with the really rare, interesting disease that they want to see patients with.
And Sam is yelling. We tried to talk about how Sam is doing and how Louis is doing and ignore Sam's outbursts, but finally Dr. Longo stopped and he looked at me and said, "You need to get this girl back to school. She needs to see how other children behave. And you need to get yourself a life before it's too late.”
I was embarrassed. I thought, “You're right. I have no life. This is all I do, and I haven't been able to trust anyone else to help me.”
So, I finally wrapped my brain around sending Sam back to school. I finally started considering that, yes, Sam has brain damage. It was preventable. If I was somehow able to know that she had GAMT, I could have fixed her, but I didn't and I can't and I can't change any of that.
So, I sent her back to school and I joined a patient‑led organization that's focused on changing creatine deficiencies for a future generation.
It's been almost 10 years now since that day I decided to let Sam go back to school. A few things have definitely changed. I finally focus on Sam's happiness. I don't think I noticed that before. I think that all that mattered was that Sam would fit the mold I had had in my mind for what a typical healthy child would live like.
Now, if Sam's in a good mood, it's a good day for my whole family, and that's a big deal. We appreciate the smallest things in life thanks to Sam.
I'm still trying to help her but I've learned to trust teachers, let them help her, and I've focused my energy in a little bit of a healthier outlet. I'm still trying to help Sam through my advocacy work to get her a better treatment that might stop her seizures that happen about once a week.
And I've been able to work with this organization to get newborn screening accepted in the US so that all the babies born with this disease get identified from birth and have the life that Louis has been able to have.
For a long time, it was a struggle as I fought against this disease but, as I realized that I can't control Sam or change the past, I've recognized that Sam has given my family a gift. We can find happiness in the very smallest of things and that's pretty amazing.