Dyspraxic Journey

Monthly Archive: April 2016

Proximal Chromosome 18 Deletion

Up till now, I haven’t felt too comfortable mentioning what type of chromosome mutation CB has. I guess it has just taken some time to absorb the information, and partly lack thereof, and to feel more comfortable about discussing it in such an open forum. I also feel that it is important for me to be able to discuss our journey and to release my thoughts but I also want to be able to protect my son. It will be awhile before he will understand what this blog means and its impact. Heck, I am not fully aware of its impact. This all goes back to one of my first blogs about what right I have as a parent to share my child’s journey even though he is not an age where he can comprehend social media and its far-reaching effects. Despite all of this, I want to put it out there as it would be great to potentially connect with other families who might have children with the same genetic condition.

My son’s genetic condition is a loss-of-function of the SETBP1 gene, otherwise stated as a SETBP1-related disorder based off the document provided by my son’s geneticist. The gene is located on the long arm (referred to as q) of Chromosome 18 closer to the centromere than the end of the chromosome (proximal). There is a recognized genetic condition that is caused by a deletion within/of the SETBP1 gene and/or other genes in a similar location on Chromosome 18 and the condition is called Proximal Chromosome 18 Deletion Syndrome or 18q- for short. My son’s genetic difference is de novo (meaning neither my husband or myself have this same genetic difference), autosomal dominant (if my son has children, they will have a 50% chance of having the same genetic difference) and the difference is heterozygous (which means he expresses 2 difference forms of the gene). The genetic variant is pathogenic so it is understood to impact the function of the gene and to impact the child’s overall function. It is important to understand whether the difference is due to a loss-of-function (producing less than the normal amount of the protein/gene) or a gain-of-function (producing more than the normal amount of the protein/gene) as the overall difference is very different. I talked a littler further about getting the initial results and a bit more about the details in an earlier blog, Whole Exome Sequencing Genetic Results.  (more…)

April 19, 2016 Genetics, , , , 0 Read more >

Behavior – When to Worry and When to Investigate Further

I think having a child with special needs makes me, at least, hyper-aware of behavior changes. I am guessing this is the same for other parents of children with special needs. This hyper-awareness identifies a change; however, it does not necessarily result in an understanding of the change. It probably makes us more paranoid and triggers the ‘how do I fix this’ response. It is hard to know when the change is just a typical phase that will correct itself on its own or the result of some bodily issue like a bacterial infection, head pressure, or stomach problems or a social problem at school or home or some other external or identifiable internal source.You don’t want to over-react and spend too much of your time worrying about and researching something that is really just a phase. However, you don’t want to just let it go if there is something you can do to help your child change the behavior.

For CB, lately, he has really been expressing most things with strong emotion. For example, a question like “what would you like for snack?” could trigger “I WANT A BANANA.” with him yelling and sounding harsh or it could even trigger “Your are NOT NICE.” If we ask him to reply again, he will say his response calmly and many times more polite. Other things are triggering full on tantrums like “It’s time to go to bed.” or “Let’s change clothes.” My gut tells me there is something going on gut-wise. We have performed so many tests and it kinda bites to have to follow-up some of those with more tests but that is probably what we will need to do.

I think first steps are to move forward with the enzymes we purchased about a month ago and see if that helps with his high fecal fat content, tooting, and maybe even behavior.

April 12, 2016 Allergy, Diet, & Supplements, , 0 Read more >

Researcher Studying CB’s Gene Mutation Found

So I was sitting here trying to figure out what to blog about. I thought I would skip it for this week, but thought the better of it. I can comment on the fact that I just heard from a researcher that knows a good amount about the gene mutation that CB has. I am sitting on pins and needles just thinking about getting to talk with him. Who knows what he can share? Who knows what this may lead to? He is luckily in the process of moving to my state so his schedule is a bit packed so we will chat on the phone or skype in the next week or 2. So far, I have found very little about the gene’s functionality. This researcher has at least met several others with this gene mutation and has greatly studied the effects of having a loss-of-function of the gene. Fingers crossed this leads to further understanding!

I just keep thinking that if we understand the function of the gene, that there would be a drug, therapy or some other way to directly target a neurotransmitter or protein that would help synaptic transmission in CB’s brain. When I really think about it, I think this is very optimistic thinking. This is probably where the mom of a recently diagnosed child with a genetic mutation’s mind goes and the chances of this actually happening is super low. Who knows where this discussion or potential relationship will go, but I feel it will be nothing but positive and informative for us and hopefully for the researcher too.

April 7, 2016 Genetics, , 0 Read more >