Dyspraxic Journey

Dyspraxic Journey

A mom's ramblings about her son's journey through the world of dyspraxia and genetic differences

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Desperately in Need of a Breather

Sometimes, it is all so overwhelming…the therapies, the driving all over town, the strict schedule, the constant attention on what your child is not achieving or should be working on, determining if the therapies are helping or possibly hurting your child’s progress, and watching your child struggle at most everything he/she does. Also, there is the constant worry “Is it all too much or do you need to incorporate more?” Today was one of those days where wham..I was just whacked in the face with the weight of it all. One factor is probably that it is the end of year where everyone seems like they are so ready for the school year to be over. Some of the teachers’ attitudes seem to be on the less positive side, somewhat distracted, and some flat out do not seem like they want to be involved in my child’s life right now. Maybe I am just in the same boat as those teachers and I just want out. I want a change. The end of CB’s current school year is less than a month away as well as our drive to another town 30 minutes away, 4x a week. He will also stop his PT as she is located in the nearby town, as well.

I also just feel like I don’t want to hear another therapist or teacher telling me what CB is not able to do that he should be able to or what we should be working on to help him speak better, throw correctly, walk up/down stairs appropriately, act more appropriately, …I am just so tired. Tired of thinking minutely about every little thing my son says, eats, and everything he does. He has come so far and he continues to grow and progress, but sometimes I just want to not have to worry and overthink everything we are doing and he is doing. I want to not have to go to therapy for everything and for him to just once to be able to acquire a skill easily and for CB’s little brother to not understand what we are requesting before CB does. I understand everyone has their challenges. Regardless of how it may seem, everyone has struggles and difficult times in their life.

Another factor is also that this summer, we will take about 3.5 weeks off – no therapies, no school, no sports activities. Yay! We will visit family and then stay in another home in another state for 2 weeks. I think I really need this to recharge and start everything up again feeling refreshed and ready to take it all on again.

May 4, 2016 Therapy, Worries, Fears, & Ramblings, , 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 >

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 >

Awww…to breathe and function again

My entire family has been out of pocket off and on for the past 2 weeks. Ughh…everything from the flu to sinus infections. CB, HB, and I are on the mend. Olem is still battling the sinus infection but his doctor has sufficiently drugged him up so he has hope he will feel normal again soon. This seems like so late in the year to get the flu, but I guess the flu had other ideas. I was told it was some mutant, super-strong strand that invaded and that even if we had received the flu shot, it wouldn’t have mattered. The plan for the future is to still stick to my guns and not get the flu shot in upcoming years. 3 cancelled trips later and we back into our usual routine.

In other news, Olem’s crazy behavior regression back in January/February has for sure flown the coop. It has not surfaced and we hope it doesn’t rear its head again, or at least goes into hiding for a very long time. On the flip side, it seems like CB’s language skills have improved tremendously. I just read through my last blog and I will say that some fog has slipped back in. He isn’t in the regression phase, but he also isn’t in the mostly-fog free phase he went through a couple of weeks ago. He seems more like his usual self with his usual challenges, like today, he didn’t want to change activities and told me how much he didn’t like me each time a change was requested. For example, I walked into the door at his school and he told me he wanted to play more. I asked for a hug and he told me he didn’t like me and went to sit by the door and throw a fit. He followed a similar patter when we got to his speech therapist’s office and when I asked him to find his water bottle for dinner, which was located in his backpack he brought in from the car.

From the pre-k front, his head teacher and I have set a goal for CB to be able to write his name before he leaves school, which will be the end of May. The goal is for the first letter to be in caps and the others to be in lowercase. We will see how this goes :). Being that CB really dislikes writing and doesn’t put much focus into it, this may be a stretch goal. Oh, and I found out that his head teacher also worked at the university lab school CB will attend next year. She had nothing but positive things to say about the school. I love CB’s head teacher! Too bad, the school isn’t way closer.

 

March 31, 2016 Education, Growth and Progress 0 Read more >

A Positive Shift in CB’s Body

Starting a week ago, CB went through a shift and seems more comfortable in his body and to have grown in a few areas. This may be the growth that is typically witnessed after long regression periods. I already blogged about some of the regression we were seeing with CB in January and February – http://www.dyspraxicjourney.com/regression-hitting-kicking-spitting-and-perseverating/. We saw small bits of improvement in late February and then starting last Wednesday night, it was as if a barrier within CB’s brain was removed or moved out of the way. It all started during a walk with me after dinner last Wednesday. We were walking along and he seemed more present, conversational and observant. During the walk, CB saw 3 girls playing in a neighbor’s lawn with their mom’s gathered in a semi-circle behind them chatting and sipping wine. CB showed interest in the girls playing and the older one who was 9 asked him to join them. He played beautifully with the girls, including 1 his own age, which involved kicking balls around, chase, and just typical kid play. He even played in his rubber rain boots. We stayed there for 30-45 minutes. The next day continued in the same fashion where he received 2 bonus stars at school and had a great OT session. On Friday, his ST mentioned that they played 2 games and CB was actively involved the whole time. Usually about 2/3 the way, CB would grow disinterested and distracted. He also focused very well and was attentive during his horse therapy. While playing at the park, he ran further than he ever has. If he over-reacted with his brother, he could recognize the behavior, apologize, and move on. The following days have continued in a similar pattern.  (more…)

March 10, 2016 Growth and Progress, , 0 Read more >

Kindergarten School Selection

After much deliberation, we decided on CB’s school of choice for Kindergarten for next year. We ended up selecting a school that is located and run through our local university. The school does not meet the criteria I specified in my post The Perfect School, but that school doesn’t exist (that I know of ;)).

The school is run by a master teacher with her master’s or PhD in child development or a related field, an assistant teacher with her degree in child development or a related field, and several undergraduate students. There will be a max of 19 students in the class. The school is designed to meet the child at their level. I hope this will be less stressful for CB. The school only runs from Monday-Thursday so that allows more time for therapy. They also focus on positive behavior and social interaction like CB’s current pre-k. The school comes highly rated by close friends.

The downside is that we will have to pay for his school for his Kindergarten year but the plus side is that we both feel very comforted by the decision. Too bad the school only offers options through Kindergarten.

March 3, 2016 Education 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 >

Parasite Detox with Humaworm

Are we crazy? Well, yes, by the way, we are quite crazy for performing a family parasite detox. You might ask, why would we even think about a parasite detox? Our primary driving force in this family is CB. We got the results back from the comprehensive stool analysis and it was noted that Dientamoeba fragilis (d. fragilis) was found in CB’s stool and high fecal fat and protein products were identified which signaled fat absorption issues. This info combined with the fact that CB’s impulsive and compulsive behavior had ramped up tremendously and he had persistent shiners under his eyes, prompted me to consider that a detox might help his system perform better. Also, parasites can spread easily so we thought if one family member has one, then it is likely other family members have it. We decided on Humaworm as the detox of choice based off the reviews, the fact there are doses for all ages, and the ingredients for the children’s version were acceptable.

Well, a detox isn’t much fun. I know this is so hard to believe :). The detox is for 30 days. For the most part, Olem and I are fine. It is annoying that we have to take 2 pills 30 minutes before we eat or 2 hours after we eat and we are supposed to take them every 8-12 hours. We mostly abide by these rules. It is sometimes 14 hours between pills due to meal timing and sleep. During the first few days, the detox produced quite a bit of gas for the entire family. It tapered off a bit by the 4th-5th day. Our eyes have been off-and-on bloodshot. Stool formation for the family has been impacted. The pills can easily give you heartburn/indigestion so you have to ensure to drink enough water when you take the pills and to keep water handy nearby. I thought I had strained my back one afternoon from lifting HB too high. The pain went away and resumed 2 days later. I realized that it was actually my left kidney hurting. I drank extra water and the pain went away. This Humaworm stuff is definitely interesting. (more…)

February 25, 2016 Allergy, Diet, & Supplements, , , 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 >