I told myself I’d write this embarrassingly overdue post today, no matter what, if the boys napped at the same time. And so I’m here. I have literally been trying to start a load of dishes for about 45 minutes now, but it’s time. Please don’t be offended if we’re close friends and you haven’t heard this information – our immediate family knows, but if we haven’t spoken face-to-face since May, you may not have gotten this news. Go ahead and imagine my face to be the grimacing emoji right now.
This summer was absolute bananas, y’all. Like, we knew it was going to be regular-crazy, what with Koby going on a week long mission trip a few days after school was out, our family traveling to Colorado for 8 days, doctor’s appointments, Division of Blind Service Family Camp, football two-a-days, etc. But then we unexpectedly bought a house. As Koby was in Haiti, I was getting everything together because we’d put an offer on a house the week before and the sellers accepted. It was insanity. Happy, exciting, insanity.
Probably an hour after the sellers had called us back, as we were still trying to figure out if this was real life, I got a call from an unknown number. Through my brain fog of OMGIMBUYINGAHOUSE, I heard the lady on the other line tell me that the genetic test results Koby, Hayes, and I had had done the previous December had come back with a diagnosis.
Let me back up. As you all know, Hayes has some special needs. In August of 2014, a year ago, he began having seizures and our top priority became managing the seizures without turning Hayes into angry Hulk (thanks, steriods) or a total zombie (thanks, Topamax). Seizures, however, were just one piece of the puzzle. Among other things, Hayes’ symptoms were: seizures, legal blindness, white matter loss in the brain, delayed development, and hypotonia, which means low muscle tone. We knew what he was going through, we just didn’t know what had caused all of it. Because of his latest diagnosis (West syndrome, aka Infantile Spasms), he qualified for a whole exome study. And so, in December of 2014, a few days before or after Christmas (can’t remember exactly), Koby, Hayes, and I went to Cook’s to have all our blood drawn.
I wasn’t necessarily expecting an answer – our geneticist told us that undiagnosed genetic conditions like Hayes’ come back with a definitive answer only 30% of the time. Thirty percent at best. We knew it would take about 6 months to get some type of feedback, and so we basically forgot about the test, knowing that the forth-coming results may not even provide answers.
But on May 12 we got the answer. THE answer. After almost three years of not knowing, we know.
Hayes has a de novo mutation on his IQSEC2 gene. De novo means ‘new’. We know it’s new because the mutation is a part of his X chromosome, which (in males) is the chromosome inherited from the mother – and since they also tested my blood, they were able to determine that I don’t have this mutation. Geneticists have only mapped this gene and understood its significance within the past few years. In fact, Hayes’ condition doesn’t have a ‘name’ (yet), like Down’s Syndrome or Cerebral Palsy, but is instead simply identified by the name of the gene. IQSEC2 mutation – that’s what we’re going with. The IQSEC2 mutation is a specific mutation associated with epilepsy, developmental delay, hypotonia, and abnormal brain development, and is part of a larger group of congenital conditions known as XLID (X-linked Intellectual Disability) disorders.
For more info on IQSEC2 mutations, you can check out these resources:
For more info on XLID disorders:
When we spoke with the geneticist a few weeks later, we of course had many questions. Why/when/how did this happen? Could it happen again?
Right now, there is no absolute answer of exactly when or how this happened, but of course I forced the geneticist to make her best guess. And show me pictures. And explain and re-explain things quite a few times. She told us that most likely (“99% likely” is what she said, verbatim), there was just a code (insertion) error in the DNA of one of my eggs – the egg that became Hayes. There are errors in our DNA all the time. Most of the time, our bodies fix them. Sometimes the errors aren’t fixed and nothing happens. Sometimes those errors replicate and become cancer. Sometimes they’re congenital errors and become the building blocks for every cell in the body, like in Hayes’ case. The geneticist said it was most likely one of the random errors in DNA that was coded wrong – OR fixed wrong. Nothing I ate. Nothing I breathed in. Not the miles I ran in my 5k training. Not the mug of wine (yeah, a mug. Don’t judge me.) I drank a few days before the positive pregnancy test, or the off-brand prenatal vitamins, or the accidental chlorine gas I may have made in our kitchen and inhaled while Hayes was nursing. Purely, purely random. (99% likely, that is.) Therefore, it also follows that it is unlikely that this same error is or was in any of the other eggs.
I didn’t realize until we received the diagnosis how much I had been hoping for an answer. I didn’t anticipate the peace and relief this answer would bring until we received it.
An answer brought us community. Since finding out about the mutation, I’ve been in contact with at least ten other families with children who have this same mutation – parents as close as ONE HOUR AWAY and as far as Finland.
An answer brought me closure. I can close the chapter of wondering whether it was something I had done while pregnant to cause Hayes’ condition. Doctors, friends, and family had all repeatedly assured me that there was nothing I could have done to prevent this, nor had I caused it, and while I appreciated and (mostly) believed all of you, I will gently submit that unless you are a female who has birthed a child with a congenital condition, you cannot begin to understand what it is like.
An answer brought us a new starting point. We now have a basis for understanding Hayes’ challenges. We have a support team at Cook’s and resources from other parents who are going through or have gone through almost the same things as we have. I know some view a diagnosis as a label, a limit, but I have never thought this. Like any child, Hayes is unique despite a diagnosis. Indeed, children with his same mutation run the gamut of ability and individuality. I have never worried or thought that a diagnosis would limit him in any way. A diagnosis is a string of man-made words, and Hayes is divinely created. Hayes is who he was designed to be, and he will do what he is able, regardless of our limited understanding of the amazing human body.
I am sorry that I have delayed such a long time in telling all of you this – I’m ashamed because we’ve had invaluable support from so many of you. But, here it all is! Thank you so much for your prayers, concern, support, and care. It really means so much to see Hayes’ accomplishments and progression lovingly celebrated by so many. We are so excited to move forward – we’ve got exciting things in the works to keep helping Hayes live vibrantly, and we hope to pass the blessing onward to other families with children like Hayes.
Finally, I want to end by saying that though we understand the cause of Hayes’ conditions to be because of an old ‘error’ in his congenital DNA, Hayes himself is NOT an error. He never was and never will be.