A Brief Primer on 1P36 Deletion Syndrome

The syndrome my daughter was born with doesn’t have a common name such as Down Syndrome. It’s designated by the fact that a piece of genetic material is missing from her First Chromosome, the P section (as opposed to the Q section) in a portion known as 36. There are three severities, .1 being the most severe, .2 being in the middle and .3 which is the least severe. My little one has a .3 deletion which means less genetic material is missing than in the .1 and .2 cases.

What does this all mean? Well, every cell in her body is missing some information crucial to my daughter’s development. Even a small portion of missing genetic info can lead to a surprising number of complications. Once my wife and I had a diagnosis for our daughter the doctors recommended we have her brain, heart, kidneys, liver, thyroid, hearing and eyesight all checked out. Children born with this genetic condition have trouble gaining weight, muscle strength, hitting developmental milestones, and learning to speak among other things. Some people with 1P36 deletion never learn to speak more than a few words in their entire lifetimes.

And speaking of lifetimes, how long is the life expectancy for someone like my daughter? The answer isn’t really known. You see, technology to be able to detect this genetic anomaly has only been around about the last five to seven years. So this syndrome has just begun to be studied. Also, because of the technology, the first cases reported were the more severe ones and detection of the .3 deletions is even more recent.

So far 1P36 deletions seem pretty rare too. One in 10,000 children is born with it. To contrast, I think the rate of Down Syndrome cases is 1 in 300 births. So there aren’t any growth or height curves to measure against.

Many of the questions I’d like answered simply can’t be right now. There’s just not enough data yet. That was one of the toughest things for me when my daughter was diagnosed about a year ago. So much was just unknown. My thoughts on that have changed though. You see, if a doctor doesn’t have data on the capabilities of a child like mine, then he can’t say “She’ll never be able to do this or that.” Her potential is solely her own. So my wife and I have decided that we’ll help her to go as far as she possibly can. The unknowns don’t bother me as much since we made that decision.

Something else that comforts me is that it was not caused by my genetic makeup or my wife’s. Some cases of 1P36 deletion syndrome are caused by a symmetric translocation in one of the parents. This means roughly that there’s something different about a parent’s makeup that doesn’t affect them at all but might cause the syndrome in their children. The other cause is just that a piece of that first chromosome simply got lost somewhere. That’s the case my daughter fell into. So the comforting thing is that should my wife and I decide to have more children, they would still have just a one in 10,000 chance of having the same difficulties as my daughter.

So what led to my little one’s diagnosis and how did it impact me? Well that’s a story for another day. For now, let me just mention that I work in software. If a single 0 or 1 is missing from something I create, it just doesn't run at all. Period. God's creations on the other hand, can be missing information from every single solitary cell and still be something of beauty that's indescribable. That's the case with my beautiful little daughter.