Creatine Transporter Deficiency
When my wife and were still searching for answers as to why Adam had such significant developmental delays along with constant vomiting, we decided that with the battery of tests being conducted during our hospital visits, we would also go ahead and run a complete genetic test for myself, my wife, and Adam. Just to make sure. This test would look at each of our genetic codes and map them to every known possible disease to find a potential match, or indicators. It was an extensive enough test that it took several months to get the results back.Months later the results were in. Adam was diagnosed and my wife and I were told that each of our genetic codes showed no trace of anything whatsoever. Literally nothing. Under any other circumstance this would have been great news, being given a genetic clean bill of health. They classified Adam’s condition as having resulted from a completely random and extremely rare genetic mutation, otherwise known as a “de novo” mutation, or having occurred after conception.
As a Muslim, I internalized this random mutation as something much more meaningful and very far from random, but that’s a different post altogether.
CTD, from what little is known about the condition, is one in which the brain is unable to receive creatine and therefore cannot utilize it for the purpose of development. This translates into the following which characterize the condition:
Severe global developmental delays
Non-verbal
Lack of muscle definition
Seizures
Major GI issues (repeated, daily vomiting)
Each of those comes with their own non-trivial side-effects which, while a labyrinth in and of themselves, I won’t go into here. Adam likely won’t exceed the mental capacity of a 3 year old in his lifetime. His life expectancy isn’t lowered by the condition, however his brain development is capped. There is no cure for this condition, and all trials are extremely preliminary at best (basically, just observational right now).
One thing I’ll call out is that folks are always optimistic and lovingly offer hope when they learn about Adam, which I can appreciate. We get told time and again that things will get better and his condition will improve, that there will be a cure. Silently, my wife and I have acknowledged given what we know of the condition and what others who have the condition have gone through: there really is no cure and no treatment. There is no meaningful outlook for improvement in any of the above conditions. What we do is we take the little knowledge we have and apply therapy methods from other, better-known conditions as band-aids.
I have an undying appreciation for all of the hard work and investment our communities have made in helping to provide programs and benefits to those families that are dealing with special needs children. Still, when your child has the rarest of conditions, the application of even the best programs and services comes with an asterisk. You, the parent, are the foremost expert in your child’s condition. My wife and I have become very good at explaining to the medical field’s foremost experts in child development what CTD is and what it entails. It’s a two-way educational street. In all, we’ve found the medical community to be comprised of some of the most helpful individuals who go out of their way to connect and establish a relationship with us to help Adam along on a completely uncharted path.
In many cases, children with this condition are often misdiagnosed with autism or general global development delay. We were fortunate enough to have had extensive genetic testing done to find it earlier on than others. Moving forward, we’re focusing on as much therapy and help that we can get to Adam. He’s getting older and bigger, but developmentally we’ve not seen him progress much. That is expected. But, there have been some improvements. Small victories I guess.
One thing I’ve learned in all of this is that it really is all about the smallest of victories and relishing those. More on that next time.