Initially, I had planned a different topic for this week, but my emotions have led me here instead. I tend to be that way…when I commit to something (like writing this blog), I will plot and plan and map it out a ways into the future, but sometimes I find something that calls to my heart with more urgency, and I have to bust out my construction hat and rework things a little. So this week, in honor of the other brave mama posting on-line about her kiddo with Trisomy 5q, we’re going to visit the day I was given this new label for our little man.
Genetic testing for our son was ordered about 8 months before we actually had it done. When I list Tony’s conditions, they are in the order we were made aware of them. We were told about his birth mom’s drinking the day he was first placed into my arms. He was then diagnosed with Sensory Modulation Disorder when we were seeking evaluation and treatment for a quickly growing array of problems, delays, and sensory issues.
His sensory processing disorder challenges are many different posts by themselves (and believe me, they’re coming)- there is no way for me to comprehensively address them in one. I have often described that period of time as “shock and awe” and “hell on earth,” firstly for him and then for our family as we helped him cope. Sometimes I look back on that period of time and I have no idea how I pulled us both through it. Don’t get me wrong, I remember everything I did, it just almost seems unreal or even surreal to me looking back.
Then, as his language and social developmental milestones began to regress, and we witnessed the emergence of many of the behaviors that are associated with Autism, he was eventually evaluated for and diagnosed with that too in the late fall of 2014, at which time his developmental pediatrician ordered genetic testing. Because Tony was struggling with significant anxiety of people, especially medical providers, and we were still aggressively working on trying to help improve his sensory reactions to things (which were pretty overwhelming sometimes in their intensity), I opted to wait a few months until he had progressed to the point where I felt like we could get him through the testing.
We met with his geneticist in July of 2015, and I was thrilled to find out there was a test they could do that would just require a cheek swab. I knew a blood draw would require multiple people to hold him down- even then, he was that strong when he got freaked out or scared. But more than that, he’d be terrified and he wouldn’t understand, and just the thought made cracks in my heart. So his cheeks were swabbed, and a sample was sent off to Lineagen. Cue one of the most dreadful of spectator sports for a parent…waiting for test results. For genetic testing, it takes weeks, sometimes months.
Lineagen was having a high demand period for testing, so a couple of months it was. My nerves were overstretched taffy by the time I got a phone call on the results. I was driving, and I looked at the number to see if I needed to take it. Tony’s geneticist. Much of the phone call was a blur, because I’m pretty sure part of the oxygen supply to my brain just shut off the moment the assistant said there’s a duplication on his 5th chromosome, part of it runs through this very important gene that causes a genetic disorder I had never heard of, and we’re going to need additional testing to confirm if he has that syndrome.
I was on my way to the clinic my son got many of his therapies at back then, and it was roughly an hour from my house. The sky was gray and ready to let loose…like my heart. Where I live, rain is a bit of a spectacle. People will whip out their cameras and send their kids out to frolic in it like tourists on the vacation of a lifetime. Let’s just say we don’t get that much of it here.
As the first splatters drizzled and plunged onto my windshield, trickles of pain for our son and what this could mean for him began to touch my own cheeks. But like many a storm in our sunny realm, it spit a little…just long enough for me to feel that the Heavens wept with me too, and then the drops ceased to fall, just as my own tears did. My heart was fractured, but I knew I was about to show up at a clinic where I did not want to be falling apart, and I needed to be strong for my son. Then I’d be picking our daughter up from school and I had to be strong for her. When you’re the person people count on, sometimes grieving in the moment is not an available luxury.
It didn’t help that I got home, googled his duplication, and found nothing to help me know what to expect in the future. I got a copy of the lab reports, hoping there would be more information to work with. This report mentioned there was only one other documented individual in the literature with a similar duplication (chromosome 5q duplications are extremely rare), but most of this kiddo’s symptoms were very different from Tony’s (whose duplication is a different size and that matters when it comes to many symptoms for this). My trisomy 5q page covers common symptoms only, I suspect there are many ways this diagnosis could go down depending on which genes are affected.
I remember reading the line that they thought Tony’s duplication would be clinically significant, but they did not know in what way and my heart turned into lead and just crashed through the tiling on our floor. So they believed it was going to do things to him, but what? Nobody knows- there is no precedent recorded. There is no comfort in it…only worries and what ifs. And because he has multiple other diagnoses, there isn’t really any way to separate out individual symptoms for him from this either. So, we can’t be a precedent necessarily for the next child diagnosed either…only a “perhaps you can expect this” kind of note. Though it can not be confirmed, I do think the severity of his sensory issues is probably related to his duplication.
It’s never fun being diagnosed with something that can come with hard things. Nothing they could diagnose him with would change the absolute love we have for him. But as a parent, I like to be prepared. There’s no way to be prepared for this, whatever came and will come from it, and I don’t adequately have words to describe how hard it is to wrap your mind around what it feels like to be a parent in our position.
Some ways of being unique and one of a kind are great…others are quite a bit harder. When you are in this position, who exactly do you turn to when you need “I’ve totally been through that” understanding or support for what you are experiencing? I’ve had to learn to try and build on common ground, though sometimes even that isn’t enough- it feels much more useful to me than dwelling on having a kiddo with a combination of diagnoses I don’t see duplicated anywhere else.
I then looked up Sotos Syndrome, because that is what they needed permission for evaluating based on this round of testing, and it was like my heart just seemed to be gaining weight by the second as it continued to sink towards the center of the earth. I read the symptoms and diagnostic criteria, I looked at his height and head circumference, and a rapid fire succession of memories whipped across the screen in my mind as they rushed to match the symptoms on the computer like cards in a game. And I knew- sometimes a mama’s heart just does- long before the test results come back.
And I knew we’d need that diagnosis confirmed so we could get him the assistance he would need because of it, so we agreed to have gene mapping done, knowing there was a possibility our primary insurance wouldn’t cover it (we were still fighting denials on the first round of testing…huge props to our geneticist’s office for getting that ultimately covered, we appreciate you guys!).
So I reached deep down and picked up my heart, because I knew I’d need all of it to continue to help him fight his battles. But clouds were beginning to gather and swell on the inside, holding the water that couldn’t come to the surface just yet as we waited for yet another round of testing to confirm yet another diagnosis, one that would not rip open the heavens, but led to a torrential downpour nonetheless.
A note on the picture:
Our son’s trisomy 5q is officially labeled by the point on the chromosome at which the duplication starts- trisomy 5q35.3. This screen shot of part of the lab report shows the labeling and the genes effected by his duplication. The 5th chromosome has 923 genes, many of which code for proteins needed for a variety of bodily functions and normal development, as does the NSD1 gene (which is partially duplicated in our son’s trisomy). 66 of the genes for this chromosome are associated with a defined disease or disorder when damaged or disrupted. Also, after my daughter recently found blog posts by the mama of the other kiddo we knew existed with a similar trisomy, I did some additional digging and found one other documented case of a boy with a 5q duplication that appears to be smaller then my son’s (yet presents with some pretty tough challenges) from a study published in 2013, so though it is exceptionally rare, there may be a few other kiddos out there, with families quietly trying to survive what is going on in their lives. I have referenced the following sites for this note:
https://ghr.nlm.nih.gov/chromosome/5#resources
Love reading your posts.
Thank you…I really appreciate your support, Kathy. It means a lot to me!