Dyspraxic Journey

Monthly Archive: February 2016

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 >

Regression – Hitting, Kicking, Spitting, and Perseverating

So this year’s regression totally caught us off-guard. Now, it shouldn’t have since CB’s other major regressions were during the same time of year when he was 2 and 3. I think since we did not see the regression around his 4th birthday, we were hoping we wouldn’t see anymore. Pretty pie in the sky kind of hoping on our part… I think the reality is that we didn’t see around his 4th birthday it b/c we made the huge diet and supplement changes during his usual regression time last year so his body was already going through some major changes. It either masked the regression or his body had to cope with so many other changes, it didn’t even have time to work on a regression.

CB’s regression time is Dec/Jan. His birthday is in January so I don’t know if it is connected to this, adjusting to being on winter break, adjusting to starting back up at pre-k/mother’s day out, the change of schedule during the break, or the combination of all of it. This regression felt quite significant and impacted every part of his life. He hit, kicked, spit, and threw things at friends, parents, therapists, and teachers. His impulsiveness and compulsiveness grew. It seemed like he was on auto-pilot (like when he was younger). He had to have whatever toy his friend or brother had. He had a really hard time being redirected and would just focus on that toy till he got it. Once he got it, he then wanted whatever new toy his friend or brother now possessed. Also, once he started an action, we couldn’t get him to stop midway and make a different decision. For example, if he was running towards his brother to hit him, I could not get through to him to stop unless I physically was there to stop it. Let me tell you, this has been a fun few past few weeks ;). Due to his speech disorder, he has always been more physical since he was not able to communicate his needs/desires in a different manner; however, using his body to communicate in a negative way has been declining considerably as his speech capabilities have been improving. He also started perseverating on specific words. He would definitely say them at times to get attention but he also would say them when he walked into a room, during quiet times, during transition times, walking around, sitting by himself in another room, ok, basically anytime he was awake. He would sometimes say them one time but often he would say them over and over up to 5-10 times. (more…)

February 2, 2016 Growth and Progress, 0 Read more >