Dyspraxic Journey

Tag Archive: genetics

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 >

Neck Odor Update and 23andMe

CB’s neck odor has persisted. I mentioned this in an earlier post from the fall, Weekly update on CB late October 2015. We thought it was related to starting the L-Carnitine; however, that was removed from his supplement schedule 3 weeks ago. The smell only comes from his neck and smells something like bo or a fishy smell. It just depends on who you ask. You only smell it if you are within inches of his neck, fortunately. The other interesting thing is that the smell goes away during the bath, and resumes within minutes afterwards. We have decided to greatly reduce CB’s supplement intake for the moment to see if this might be a sulfation issue caused by the b vitamins in some of the supplements. We also thought he could use a break from the fish oil since he has taken that without a break for almost 1. 5 years. CB’s holistic practitioner wants him to start Allergy Rescue as he thinks CB’s shiners are related to allergies. He also wants him to start digestive enzymes to help with the fat absorption issue I mentioned in my last post Parasite Detox with Humaworm. The current plan is to wait a week or so after the parasite detox has completed and start adding some of the supplements into the schedule one at a time. Fingers crossed, we figure out the neck odor issue. (more…)

February 25, 2016 Allergy, Diet, & Supplements, Tests & Evaluations, , , , 0 Read more >

Whole Exome Sequencing Genetic Results

Just over a week ago, we had our follow-up appt with CB’s geneticist regarding the results from the whole exome sequencing (WES) test. We weren’t supposed to have our follow-up till March, but the geneticist’s assistant called to let me know they had the results back and could get us moved up to a week and a couple of days away. As I mentioned in a previous post, the timing wasn’t perfect since Olem was scheduled for a business trip he could not get re-schedule. We decided that I would just call him and put him on speaker phone during the appointment. We could have just waited till March so we could both be there, but I felt they had results they wanted to share since they mentioned moving us up by 1.5 months.

My intuition was right. They found a frameshift mutation caused by a base deletion within a protein which causes a premature stop codon. What this means is that the protein where the mutation exists is not functioning. Because the mutation is only present on one of the arms of the chromosome, he still produces the protein on a certain level. Only 1 in 40,000-50,000 have a mutation on this chromosome and only about 25-40 cases worldwide are known to have a loss-of-function protein change within the same protein as CB’s mutated protein. What this means is that there isn’t a whole lot of info about this mutation. What is known is that a gain-of-function mutation to the same gene can be life-threatening and that the impacts of loss-of-function mutations to the same gene are much milder. Fortunately, CB has a loss-of-function mutation. All cases of mutations within this protein have a speech or expressive language problem ranging from just an expressive language delay to absent speech. All reported cases some ID (Intellectual Delay) ranging from mild to severe and most have motor issues and ADHD. Some other common characteristics are behavior issues and mild dysmorphic facial features. It varies from case to case though.

We ultimately don’t know what this means except that we know some of CB’s delays are caused by this mutation and that we now have another piece of the puzzle in our journey to help CB reach his optimal potential.

Research, research, research…here I come!!

February 2, 2016 Tests & Evaluations, , , , , 0 Read more >

Whole Exome Sequencing Test – Upcoming Appt

Back in October, our family visited the geneticist again to discuss the whole exome sequencing test and to perform blood draws from the entire family. We had made the decision to move forward with this testing for CB. I mentioned this in a previous post at http://www.dyspraxicjourney.com/genetics-testing/. We set the appt to get the results for March 7th. Well, we got a call last week that the results are back and that we can move the appt up to this coming Friday. Of course, Olem is out of town for work on Friday. So, we had the dilemma regarding whether I go by myself or wait for another appt. The geneticist counselor stated that at this point they don’t have any other openings till March 7th. If I go by myself and get the results now, then we will have them for our next visit with our holistic practitioner and for CB’s 5 year pediatrician appt. We opted for me to go on Friday and for Olem to be on speaker phone from his conference.

I am honestly scared and a bit stressed. I know I shouldn’t be and I try to calm myself down, but I know I have been mentally impacted since the call from the genetics counselor. So many questions circulating through my mind, and I keep repeating the mantra “Stay Calm. He is the same son you fell in love with. This doesn’t change who he is. This just helps us potentially understand him better and discover other ways to help him reach his full potential.” I hope I don’t break down crying during the office visit, but we can’t necessarily control these things. A girlfriend of mine who has children with an extremely rare disorder recommended that I get the results before the meeting so I can formulate some questions beforehand. I plan to request them tomorrow. Maybe this will help? I don’t know. My guess is that it will take weeks, months, and maybe longer to fully process the information the geneticist will share with us. I understand that certain markers will be shared that are irrelevant, potentially some with unknown relevance, and most likely some with scary current & future potential.

I used to consider myself strong and fully capable. Lately, I feel definitely lacking, less than, and at times unstable lately. I don’t know if it hormone-related, lichen planus-related (an autoimmune condition that is currently impacting my gums), stress-related or most likely a combination. I am hoping I can remain strong and be properly prepared to accept what I hear and to be as open and actively present as I can possibly be during the office visit. Wish us luck!

January 19, 2016 Tests & Evaluations, , 0 Read more >

Genetics Testing – Whole Exome Sequencing

The decision has been made to move forward with the Whole Exome Sequencing (WES) genetic test. We have waffled back and forth on this one several times. CB had some initial testing done via the CMA (chromosome microarray) and everything came back negative. CB’s pediatrician suggested we move forward with the WES, but the neurologist suggested we don’t mess with it. The geneticist suggested we don’t move forward unless we have something more specific to look for. We felt comfortable with holding off on the genetics testing. This lasted until we heard so much about it at the Apraxia Conference in July. They talked a lot about the FOX2P gene and a deletion within chromosome 7 within the 7q31 region. I then felt compelled to look into it further. Because this is really just starting to get more recognition and more parents are recently doing this type of testing, the information about this gene and several others is somewhat limited. The belief is that this gene mainly impacts language and speech. Since CB has global issues, not just related to speech and language, then we don’t know if he could have this deletion and something else. Or if it would just be something else. While researching this gene, Olem found another gene that could be impacted and would provide an explanation for a whole array of CB’s and HB’s differences. The PAX2 gene is expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system. CB has issues with his kidneys, ureter, eyes, and CNS. We are not sure about ears. The interesting thing is that HB also has issues with his kidneys, ureter, and eyes. So far, we haven’t seen any issues with his CNS, but the severity and impact of the gene duplications/deletions is variable.

Some of the potential issues/findings are

  • Ehlers-Danlos-Syndrome
  • skin & joint abnormalities
  • kidney and urinary tract abnormalities
  • ocular abnormalities
  • CNS abnormalities
  • Renal coloboma
  • sensorineural hearing loss

It is definitely a mixed bag when it comes to genetic testing. You can find out all sorts of information that you may not know what to do with. Additionally, you can find out things that are likely to happen or that have a potential to happen. However, your child may end up with none of the issues that are presented as possibilites. This can cause extra worry that may not be needed. However, we feel that by completing the genetic testing, we will have a better picture as to what is impacting CB. Also, the findings may be useful for getting CB additional help with school.

We will see how this goes, but we are trying to prepare ourselves mentally. We hope to just use the information that is currently relevant and just keep the other information on file but nothing we act upon.

September 24, 2015 Tests & Evaluations, 0 Read more >