Dyspraxic Journey

Monthly Archive: September 2015

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 >

Motor Cognition Evaluation Planned

I am thrilled as we have a motor-cognition evaluation for CB scheduled for this week. One of the top researchers of DCD (Developmental Coordination Disorder – mostly equivalent to dyspraxia in the medical field and is listed in the DSM) in the area has offered to evaluate CB and to share her thoughts about his skills. We really aren’t sure what to expect from this, but hope to find out some things we have not known to look for. It would also be good if she were to provide an unofficial diagnosis. She does not have a medical degree so she cannot officially diagnose him. She is quite knowledgeable in the area, which is rare to find. I have my fingers crossed CB is in a good place and the evaluation accurately reflects most of his skills.

We hope the evaluation will help for next year when CB enters kindergarten. Right now, his IEP just lists that he has speech issues and that is it. We hope this will help provide concrete evidence that CB needs more. His private OT and PT evaluations should help too. We just want to provide as much documentation as possible come the spring time when we meet again for his next ARD. We also need to keep Warren Fried in mind as it would be good to have support during the ARD. The school CB is zoned for mentioned that their approach would be for CB to not get extra help and then if the teacher identified a need, then they would perform additional evaluations. This is so typical of public schools. It is the perspective of let’s wait and see if a child fails, and then provide extra help. This is obviously not going to be our approach, as the parents, and we will work to ensure CB is set up properly with the right services before the 1st day of kindergarten. All of this is assuming we decide to enroll him in public school next year. That matter is still up in the air and I believe a decision will not be made till the springtime.

Bring on the evaluation!! Feeling optimistic!

September 24, 2015 Education 0 Read more >

The kiddos started school and I am the one having the hard time, is it just me?

I was really looking forward to CB’s pre-k and HB’s mother’s day out program starting up so the kiddos would get back into their new routine. The summer chaos had settled in and there was no question that a routine would be great for all of us. CB had a lot of therapy changes and some additions so I was anticipating how it would all go. All of the new changes seemed like wonderful enhancements to CB’ learning and development. And you know what, the new routine and programs have been fantastic for CB. He is progressing well and has been playing with HB better than ever. So, the big question is, why is this tough for me? All this positivity should be beaming directly into my being and helping me to shine, as well. Unfortunately, this has not been the case.

Part of the matter boils down to me not taking better care of myself and another part is what to do with some added no kid time? I haven’t put any focus on either of these. I therefore have not eaten great in between shuffling the kiddos everywhere and have filled my free time w/frivolous things. I just finding myself not wanting to do anything when I have a free moment. You always hear about classes, articles, presentations, and on and on about how parents and especially parents with children with special needs need to make sure to take care of themselves and to make it a priority. Honestly, when you are in the thick of it and are feeling weighed down. The thought of taking care of yourself and making it a priority just sounds like work and more stress.

The realization that more needs to be done to take care of myself should help motivate me to get back on at least a somewhat regular exercise schedule and to make lunch meal prep for me, as well, a necessity. I think I just need to fill my cup up a bit more so I will have more to offer. It is probably not a bad idea to start periodically thinking about how I will want to fill my time next year when CB is in kinder and HB is in a mother’s day out program 3 days a week. That has also seemed stressful, but I think it is mostly related to perspective. I just need a new plan :).

CORRECTION STATED BELOW – So, we got further confirmation that CB in fact does have a peanut allergy. The IGE allergy testing he had done a few months back indicated he could have a peanut allergy as the numbers were slightly elevated. We have stayed mostly away from peanuts since the test. Well, last weekend, while out of town at the beach, CB ate a bunless burger with fries, pickles, some raw onions, and some bites of tomato. We knew the burger and fries were cooked in peanut oil, which seemed weird but we thought we would try it. Partway through the meal, I noticed CB’s cheeks were bright red and he had what looked like a big pimple forming on his chin just below his mouth. His lips also looked like they might be a little swollen. Since he had been at the beach, I wasn’t 100% sure if the cheeks were turning red b/c of the food or the sun. I really thought the redness was more apparent and didn’t remember the blemish. We set the food aside and gave him some food we had packed as back-up. We thought this could be related to the vinegar in the pickles b/c he is sometimes getting swollen lips from those, from the peanut oil, or from some other ingredient we didn’t even know about. Two nights ago, during dinner, CB had some thai spring rolls in peanut sauce. He got that same enlarged pimple/blemish. Guess we will keep that off the food list for now.

Diet/Nutrition Update: CB also started GSE (grape seed extract) a few days ago to help treat the yeast in his belly and a new probiotic w/30 billion active cultures (Ultimate Flora Extra Care Probiotic Supplement). We are also periodically giving him some dairy with no noticeable changes.

9/23/2015 UPDATE/CORRECTION: Yah, CB’s allergic reactions appeared to be peanut related, but they were reactions to the already known allergy, soy. The peanut sauce for the spring rolls had soy sauce in it. I can’t believe we weren’t thinking about that when we got it. The restaurant that said they cooked their burgers and fries in peanut oil were incorrect. I called them back and they double-checked the oil. It was vegetable oil with soybeans in it. It is so hard to really know what you are eating when you eat out. The cooks didn’t even know what they were using and then just guessed and guessed wrong.  I was so concerned we were going to have to start carrying around an epi pen and start having to worry about peanut exposure, as well, whew. It is nice to have one less thing to worry about for now.

September 15, 2015 Allergy, Diet, & Supplements, Worries, Fears, & Ramblings, , , , 0 Read more >

Test results from Organic Acids Test (OAT)

So, after 7 months, CB finally peed in the cup needed for the Organic Acids Test. We actually ended up taping the plastic bag Great Plains Lab provided in the middle of the night. Come early morning, he had a slightly wet diaper but nothing in the bag…argh. So I reattached the bag and CB slept a couple of hours longer. The bag ended up not collecting urine, however, to our surprise, CB wanted to pee as soon as he woke up. He even peed in the cup – yay!! Small achievements :).

Well, we got the results back and it is not surprising that the report indicates excessive yeast and bacteria in his gut. You can view the results at OAT Results. Additionally, he may be low on serotonin and need L-carnitine supplementation. Based off the results and info we already knew, we plan to implement the following supplement schedule.

Morning

  • Multivitamin
  • GSE or garlic extract
  • NOW L-Carnitine (start with 500mg a day) (UPDATE: didn’t start this till 10/5 and started with 250 mg)
  • Fish oil
  • D-3

Afternoon

  • Probiotic

Nightime

  • Oil of Oregano

Daily

  • Limit sugar/carb intake (UPDATE 10/7: begin limiting oxalates)
  • Drink lots of water

We have to consider whether we want to add 5-HTP supplements, but I read it can cause seizures and gut problems. 5-HTP was recommended due to his lower serotonin levels and high High quinolinic acid / 5-HIAA ratio.  That doesn’t seem like a reasonable risk. Will definitely need to research more.

Some good news is that CB seems to be able to ride a tricycle pretty regularly now. He just sometimes needs help with initiation. I just now need him to be successful at home :).

We are still seeing tons of verbal growth from CB. He sometimes emits responses with up to 7 words. His STs are also happy with his progress. At this point, CB will get 4 days of private ST and 1 day of group ST through the school system. He also gets OT 1 day, PT 1 day, swims another day, and has karate on the weekend. He started a private pre-k last week and attends for 15 hours a week. I believe he is with the 3 year olds right now academically but he is progressing and really enjoying himself. I am really happy with the schedule we have lined up this year, even though we are driving all over the place Monday-Thursday :). We know this is just the plan for this year and I have a feeling he is going to grow tremendously in all areas. Both his OT and PT are big proponents of reflex therapy and they know each other. They plan to collaborate. We also implemented a therapy journal and so far I think it is very helpful.

It feels good to be in a positive place :)! With our kiddos and I guess life itself, we take it moment by moment. When we have these moments of comfort, it feels so good to just relish in them and appreciate where we all are. The future is unknown and all we can do is put the wheels in motion now to help our children be better prepared mentally, physically, and emotionally for what life deals them.

 

 

September 3, 2015 Growth and Progress, Tests & Evaluations, , , , , , , , 0 Read more >