I mentioned in one of my earlier posts that when I was a young child I was diagnosed with a rare form of ovarian cancer. Because I had this rare form of cancer, geneticists were interested in learning whether or not there may be a genetic component to this type of cancer so they asked my parents if we would do genetic testing. We did. They didn’t find a genetic component to the cancer but they discovered that I have a genetic translocation (parts of two chromosomes switched places) and this put me at a higher risk of having a child with something called Roberts Syndrome which is a rare genetic condition that can result in a very short life expectancy for the child. Anyways, it is severe and because of this, genetic testing was recommended when I became pregnant with my daughter.
We elected not to do the amniocentesis but instead to do the non-invasive prenatal testing for both of my pregnancies. Olivia’s results came back “low risk” and she has turned out to be a “typical child”. We did the same when I was pregnant with Oscar and all of the results came back “low risk” as well. We were happy and re-assured by the “low risk” result.
What I have learned is that terms like “rare” and “low risk” fails to highlight the fact that there still is some risk. I now understand this. Not that receiving a diagnosis like Oscar’s is ever expected, but having the false reassurance ahead of time that everything was “low risk” made it that much more difficult to receive… maybe?
1P36 deletion syndrome is the most common genetic deletion occurring in 1 in every 5,000- 10,000 births (wikipedia.org). My son was that 1 child in 5,000 children. There is very little evidence regarding 1P36 deletion syndrome. We were provided with one study to reference and that is primarily what I will use for this post. I will say that this article doesn’t provided strong evidence as there are only 25 children included which is a very small sample size (the number of subjects/children in the article). My only point of mentioning this is that there appears to be a large grey area with 1P36 deletion syndrome and I am assuming that this may be the same with other rare genetic disorders although I am not as familiar with them.
In regards to 1P36 deletion syndrome:
- Speech: “Delayed or absent speech reported in 98% of children” (www.rarechromo.org) this means that 2% of children must have normal speech development. If my son can be that 1 in 5,000 then why can’t he also make up that 2%? Now, unfortunately, I already know that my son has delayed speech but I am strongly holding onto hope that he will be verbal.
- Feeding challenges are common. Five out of twenty five (www.rarechromo.org) mothers were able to successfully breastfeed. I was not one of those “5”, but someone has to be! Despite the feeding challenges we have experienced, I would describe my son as being a successful eater because he is able to eat without the need of a NG-tube or G-tube.
- Gross motor skills: “Most babies never crawl” (www.rarechromo.org). Although I am not sure what they mean when they say “most” … but my son crawls. He started crawling at around 17months, delayed for sure but he crawls!
- Hearing Loss affects around 2/3 of people (www.rarechromo.org)
- Heart problems occur in 44% (www.rarechromo.org)
- Vision problems in 80% (www.rarechromo.org)
- Seizures affect around half to 2/3 of children (www.rarechromo.org)
Of course there are many other things associated with 1P36 deletion syndrome that I have mentioned in earlier posts, but I don’t want to bore you with those details now. My objective of this post is to spread hope. Because if your child can be that 1 in 5,000 then they can also represent that “2%”. I hold onto that 2%. I have to. That is why we work everyday. That is why I sought out a naturopath and give Oscar the recommended supplements. That is why I do all of his therapies daily. That is why I am religious with my son’s hearing aids and I make sure that they are properly fitted and are working well. I know that that 2% may not come easily or naturally for my son, but if he has a chance I have to try.
Hope is scary. It still is very scary for me. I don’t think about hope often. But I do think about statistics. My past experiences have taught me how to look at statistics differently. I do now understand that if someone says “most likely he won’t” or “there is a very small chance that he will” what they are actually saying is that there is a chance. Listen for that.