Dyspraxic Journey

Genetics

Summer Vacation

We are away on our regular summer vacation!! Unlike the past where we would home swap, this summer we ended up having to secure a home through airbnb.com. We just couldn’t get anyone to want to trade homes during the dead heat of summer, surprise, surprise :). Sort of surprised we had luck for the past 2 summers. Like usual, the kiddos were great road trippers! We made our way north which took about a week with stopovers with various family members. All of our family visits were short but sweet. CB has always loved riding in his car seat, even as a baby. I think HB has simply followed suit as he has seen how his brother behaves on car rides.

We could not have planned a more jam-packed summer if we tried. I can’t say I would have given up any trip or experience, but I do wish there had a been a bit more relaxation time built into the schedule. I think some of CB’s behavior tidbits this summer were directly connected with our travels. Overall, the summer break has been good for him. He has more chunks of time set aside for play, mostly with HB, which I think is good for him. We have followed the new supplement schedule with just a few exceptions due to traveling and I think the supplements seem like a good fit. We are sticking to the GFCFSF diet. Thank goodness for all the modified diet options we have today. We attended a conference a couple of weeks ago where we connected with other families and learned more about CB’s genetic difference. I think the main things we learned is that an MRI could be helpful, an updated hearing test, signs to look out for for anxiety, an awareness that developing seizures later in life is possible (not sure though if it is really related to his gene or others on the long arm of Chromosome 18) and a few more things to investigate.

I am toying with the idea of piano lessons but then I also want to ensure that he has sufficient off-time/playtime. This is the second time he has said yes. We will see. I guess the next thing I need to figure out is his schedule and to ensure not to pack in too much into it. How do you do that with so many needed therapies? I guess that is the challenge we have as parents with children with special needs. I know that playtime is super important at his age, and his school gets that. I hope this year if things get to hectic, I will be aware enough to back off a bit and see if things balance back out. I also should see if there is an insurance-covered OATS-like test to test his levels to see if the supplements and anti-fungal cleanse helped.

 

July 25, 2016 Genetics, Growth and Progress, , , 0 Read more >

Summer is Now in Full Swing

I can’t believe it has been a whole month since I last wrote a post. With school ending, camp starting, and trips to two states and another country, it has been a bit of a whirlwind. It is hard to determine where to start.

Well, for the latest nutritional update, CB had blood taken today so we will know in a week or so whether his vitamin levels are back to normal. I believe I mentioned we ultimately decided to completely cut out dairy again. It just really seemed like the factor contributing to the declining levels. We will see soon. Otherwise, for the last month, CB regularly gets probiotics at night, but that has been the only supplement. We will most likely add the enzymes back in to help with his regular smelly gas after he eats. We were waiting to make any additions/changes till after we receive the blood work results. We quite giving him the vitamin D drops b/c he is getting so much sun everyday. We will also need to think about adding the multivitamin back in. I am really curious to see how his Vitamin E levels and to see if his fat absorption has improved.

I have now met another family with the same genetic mutation as my son. It was so affirming and feels really good to know you are not alone. Although our children are different, it is easy to tell how the genetic difference greatly impacts both our children’s lives. Still not much is know about SETBP1 loss-of-function mutations so we still have to address each symptom, i.e., speech therapy for the motor-planning disorder, OT for the fine motor challenges, PT for core strength, balance, and coordination, diet for sensory needs, etc. It would be nice to be able to help the root cause, but who knows if/when during CB’s life this level of information will even be known. I am reaching out to as my knowledgeable professionals and researchers as possible to find out what we can. (more…)

June 29, 2016 Allergy, Diet, & Supplements, Genetics, Growth and Progress, , , , , 0 Read more >

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 >

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 >