On Monday July 11, 2011, I finally received the phone call that said my son, Thatcher, definitely has Autism. The most difficult part about this diagnosis, was actually figuring out how to get the diagnosis and the “now what?”
Little did I know that on Friday, September 13, 2019, just eight years later the “now what?” would seem easy in comparison. This was the day that we received the diagnosis of Christianson Syndrome. And now, we are left with this lingering question all over again. “Now what?”
This time, however, we aren’t just looking at what kind of services can we get to help Thatcher be his best Thatcher, but instead, where do we fit in in the world of Autism. We have seen the neurodiversity movement take force and wondered what that would mean for Thatcher. Would people be more accepting of him in the future? I am not so sure, to be honest. Yes, this means that his brain works differently, but this new diagnosis also means possible regression in Thatcher’s future. The life expectancy for people with Christianson Syndrome is 25-30 years, but one that I have heard of in a Facebook group is 55 and in good health.
Of course, by now, if you haven’t looked up Christianson Syndrome, you are probably wondering what it is. Christianson Syndrome is a rare genetic mutation that affects the SLC9A6 gene on the long arm of the X chromosome. That is one of the sex chromosomes. Every child is born with either 2 X chromosomes or an X and a Y chromosome. This is true regardless of gender. Thatcher was born with an X and a Y chromosome. The Y chromosome came from his father. The X chromosome came from me. After doing genetic testing over, which we had initially done at Cincinnati Children’s Hospital when Thatcher was first going through the process of an Autism diagnosis, we discovered this gene mutation on the long arm of X chromosome. We also discovered that I am a carrier of Christianson Syndrome, which means that every time I have a child, there is a 25% chance that that child will have Christianson Syndrome. That is actually pretty high odds. 50/50 for a male or female and 50/50 that the male will have Christianson Syndrome or the female will be a carrier for Christianson Syndrome. This very rare genetic mutation is even more rare if a female is born with Christianson Syndrome because that female would have to have the same mutation on both X chromosomes. As impossible as that sounds, I have heard of one such case.
Now, back to how this new diagnosis has changed us, maybe for the better. Thatcher, of course, is still the same Thatcher that his family and friends all know and love, but now we know so much more about how his new diagnosis effects him. For example, in reading up on Christianson Syndrome and meeting with the geneticists at Cincinnati Children’s Hospital, I have found that the odd type of absent seizures that Thatcher’s very first neurologist described as “fascinating” are caused by Christianson Syndrome. I have also discovered that the reason why Thatcher has not been able to walk long distances, like through a grocery store for more than a very short trip is because of… you guessed it: Christianson Syndrome. So, when I see judging eyes as I push my child in his transport chair when he appears that he can actually walk, I can feel a bit of vindication in knowing that I am actually doing what Thatcher needs me to do because he physically cannot walk through the entire store or the whole zoo without getting extremely fatigued to the point of laying down on the ground and refusing to move.
Knowing that I am vindicated in doing everything I can to help Thatcher makes me feel good, but knowing that this rare genetic mutation is regressive and degenerative puts me on edge for what this will mean for Thatcher’s future and whether or not all of my previous planning for him will do much good. I hope that his particular variant (c.2 T>A p.M1?) of this gene mutation will mean that he won’t regress as much as some others, won’t have more trouble with his epilepsy than he already does, won’t be unable to do some things for himself, as he does now. My hope is that by keeping up with his intensive therapies and helping him as much as I can, in the best way that I know, that he can still be the best Thatcher he can be, whatever that means.
Thatcher is so unique, as am I, a carrier who shows some very mild symptoms in the form of dyslexia, slow reading speed, auditory processing issues, daily pain in every joint, and other heath issues that I have never really felt a sense of fitting in with any one particular group.
I am not sure Thatcher has felt that sense of fitting in either, only to a more extreme sense. I feel that we don’t fit in with the neurodiverse because what we actually have is something that affects more than just our brain, but our entire being. Perhaps we don’t fit in as much with the Autism community either because though I have made some very powerful connections with many wonderful people, Thatcher and myself are different than those with Autism. Of course, Autism is a spectrum and everyone on that spectrum is different, but I haven’t really felt like we fit in well with those who are more able to do for themselves or those who are less able to do for themselves. That being said, I have said for many years now that what caused Thatcher’s Autism is genetic and that Autism is actually a spectrum of many different disorders, many of which have yet to be discovered. Well, in 2012, one of those disorders finally had a name and on September 13, 2019, Thatcher was diagnosed with it.
This isn’t just interesting for Thatcher and his family. It is also interesting for the neurodiversity movement, those who work with and research causes of Autism, and those who have Autism of one form or another. It is possible that it vindicates those who have said that their child’s Autism was caused by an injury at birth or within the first year of life as well since this could mean that these causes could still be out there, undiscovered. And then, what will it mean for those with Autism if every last type is given a name? I don’t expect that to happen in my lifetime, however, I didn’t expect Thatcher to have any cause found for his Autism symptoms in my lifetime either, so who knows how much science will advance in the next 10 years. This type of research could advance as quickly as our computer processors did from the 1980s until now or I could be right about this not happening in my lifetime or even ever. Some people might not even want to find a cause for their Autism symptoms and that is their right and their choice, but for now, I am grateful for the vindication, but more importantly to be able to hone in on a better way to treat Thatcher’s disabilities as the world changes around us. For now, we will continue to do what we have always done and keep trudging through finding exactly what makes Thatcher’s life the best life possible because he is worth every minute and all of the energy I can muster.
3 thoughts on “A New Diagnosis and Vindication”
It sounds complicated. I think it’s natural to have a lot of feelings to work through when you have a child with a rare condition like Christianson syndrome.
It’s good that you do your best to help meet your boy’s needs, even if strangers judge. They don’t know about his conditions like you do. His well-being is far more important than their opinions.
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That is absolutely true. I mean, I was both glad and sad about getting that vindication. It’s not something I really wanted that bad, but now that I have it, I am glad.
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I hope it offers knowledge that helps you lead a better and happier life 🙂
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