For me and for most of the moms I know, after we take in the fact that our child has special needs, we set off on a journey to find the root cause of our child’s challenges and sometimes illnesses. Even when we think we have an answer, it is not the final answer. Things are always in flux and we are always learning something new. Information posted a few years ago may already be disproven or at the least improved upon. Even though we know CB has a genetic difference, genetic variance, genetic mutation, whatever you want to call it, we know that he exhibits a myriad of symptoms that may or may not be 100% related to this genetic variance. He could exhibit some behaviors because the genetic variance makes his body more susceptible to other infections, illnesses, or other difficulties.
Our latest work up results included blood, urine, and stool. We did this as we were considering seeing a pediatric gastrointologist. This pediatric gastrointologist wanted an extensive work up including blood, urine, and stool before he will see your child. His visits are also 100% out of pocket and if he has to do a scope, a good portion is not covered by insurance. Since it was time to do CB’s usual blood work, we added in the extra tests. The good news is that we do not feel we need to move forward with a visit to the pediatric gastrointologist based off the results of the work up. (sigh of relief). The concerning news is that CB’s iron is still low and his IgA levels have fallen even lower. His wbc count is low but nothing else on the CBC. His zinc and vitamin D look fine but we supplement those. The other interesting finding is that his stool still contains d. fragilis. This is the same parasite identified in his stool from another lab almost a year ago. We treated the parasite with humaworm. Actually, the entire family took humaworm. We felt his symptoms had improved afterwards. Since we did not test again, I don’t know if it actually cured it and he was reinfected or it never fully cured it. (more…)
Rosa
November 18, 2016
Allergy, Diet, & Supplements, Tests & Evaluationsd fragilis, IBS, iron, leaky gut, low zinc, parasites, vitamin d
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Feeling a bit bummed today…CB’s nutrition report came back with low iron, high UBC, low cacl % iron saturation, low IgA, slightly low zinc, high vitamin E, low WBC, and improved vitamin D3. I believe the persistently high vitamin E levels are due to CB’s high almond intake so this is understandable. His IgA level is 6 points lower than it was 2 months ago but the second test was taken in the morning while fasting so that might account for some of the difference. The zinc is the exact same value as 2 months ago and the vitamin D increased some. The vitamin D increase is easily explained by the additional time in the sun plus vitamin D supplements for the first month or so after the last test. However, the vitamin D3 level is not as high as we would like it to be. CB stopped having dairy in his diet one month before the last test. There is definitely the potential that adding dairy back in caused the decline in iron. Even though the dairy was in his diet before the last test, maybe it took more time to really impact his intestines and then his iron levels. From this we know only adding vitamin D3 supplement does not bring up the iron and zinc levels. We also know that although the probiotics are helping, they are not enough.
We feel at this point, we are going to take a step back and look through his previous nutrition reports to find when his levels where the best. It seems like October of last year, his vitamin levels were quite solid with the exception of low IgA (although it was improving) and high vitamin E (still high almond intake). For now, our plan is to get back on the following supplementation routine. CB will also remain GFCFSF plus we limit dyes, no HFCS, any preservatives with initials for names, no carageenan, and no MSG. (more…)
Rosa
July 7, 2016
Allergy, Diet, & Supplements, Education, Tests & Evaluationsiron, iron anemia, low IgA, low iron, low zinc, probiotics
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CB’s last round of blood work was 6 months ago. Since the last blood work, we have made several changes to CB’s supplements and diet. We stopped well just about everything at one point, except for the probiotics. For the last 3 weeks, we added digestive enzymes and fish oil back into his schedule. For the last two weeks, we added D3 back into his morning routine. Dairy was incorporated about 3-6x a week, mainly through cheese, yogurt, butter, and some ice cream, for about 1.5 months. We wanted to see if the dairy was impacting his vitamin levels.
We got his blood work back this week and his body was showing the beginning stages of declining iron, vitamin D, and zinc levels. I believe all of these are related. On a positive note, his IgA was 1 number below the normal range…wow! I can’t believe that he might actually have normal IgA levels soon. His Vitamin E level was still high but lower than the levels reported over the last year or so. I think the high Vitamin E levels are still related to fat absorption or fat breakdown issues. We will see if the enzymes help the matter. I thought the L-Carnitine should have helped that, but the last test didn’t reflect that. We stopped the L-Carnitine awhile back so I don’t know for sure. His vitamin K, homocysteine and magnesium levels also looked good. So now, we have to figure out why he has declining iron, Vitamin D and zinc levels. Unfortunately, since we stopped the Vitamin D3 for awhile and we added in the dairy, we can’t say for sure whether the removal of D3 or the addition of dairy caused this. We are obviously assuming it is related to one of these things, but it is always hard to know for sure since we always make several changes between the blood work dates. We have decided to test again in 2 months with daily Vitamin D3 supplements and zinc incorporated for a week or so and to keep dairy in his diet. If any of the levels remain low, then we can assume that dairy is the culprit and to cut it out and test again in another 2 months or so. If all levels return to normal, then we are going to assume that CB needs D3 supplements and that dairy plays an insignificant role. For the past tests, we saw the vitamin D, zinc, and iron levels continue to grow while D3 was a regular supplement and dairy was not a part of CB’s diet. (more…)
Rosa
May 5, 2016
Allergy, Diet, & Supplements, Tests & Evaluationshomocysteine, IgA, iron, low vitamin k, low zinc, supplements
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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…)
Rosa
February 25, 2016
Allergy, Diet, & Supplements, Tests & Evaluations23andMe, genetic testing, genetics, neck odor, supplements
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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!!
Rosa
February 2, 2016
Tests & Evaluationsadhd, chromosome, expressive language delay, genetics, global delay, speech
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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!
Rosa
January 19, 2016
Tests & Evaluationsgeneticist, genetics, whole exome sequencing
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So far on this journey, the main driving force to figuring everything out from therapies, specialists, supplements, diet, etc. for CB has been me (with a big help from my hubby). I understand that this is how our system is set up. From one perspective, it is quite empowering b/c there are so many options and opportunities for our children. We are no longer in a day and age where we find out our child is unique and we know our child will not have the same education and opportunities as typically developing children. Now don’t get me wrong, there are difficult times and struggles and extra challenges, but our children’s future is not set in stone. We get to help them in so many ways and they get to be whoever they want to be while playing an active role in our society. We are blessed in that way. On the other hand, it can be extremely overwhelming trying to figure out how to best help our children, how to get started, and how to sift through all the options from therapies to specialists (gastroenterologists, neurologists, child psychologists, behavioral psychologists,nutritionists, DAN doctors, holistic practitioners, Functional Medicine doctors, geneticists, etc.) to traditional medicine to biomed to diet changes and on and on. Plus, you have to consider what is covered by insurance and what costs will be totally out of pocket. I am fortunate that I am able to stay home with my kiddos and have the time and means to make the choices we feel will be best for CB. I hope one day that things will be easier for parents with children with special needs. I hope they will not feel lost and overwhelmed and that the resources will be easier for them to locate and access. I hope more practices will be recognized as beneficial and will be covered by insurance. (more…)
Rosa
December 3, 2015
Allergy, Diet, & Supplements, Tests & Evaluationsbiomed, holistic, homeopathic, supplements
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Yay, CB’s progress is continually being reflected in the blood workup CB partakes in every 4-6 months or so. The highlights are that all his iron levels are within normal range, his IgA levels are still rising, his CMP was completely normal, and his homocysteine levels are getting close to the low-end of normal. What does all this mean? His diet and supplements are working!! We implemented the modified diet and many of the supplements based off CB’s original blood workup test results from April last year. You can read more about where CB started from blood workup-wise in my blog at Current diet and supplements.
The number of tests performed with CB’s blood workup has grown since his first one a year and a half ago. On the latest workup, the following tests were performed:
- CBC w/autodiff w/platelets
- CMP
- Ferritin
- Iron and IBC
- Immunoglob IgA
- Immunoglob IgG
- Immunoglob IgM
- Immunoglob IgE
- Folic Acid?
- Magnesium
- Lipid Panel
- TSH Free to Reflex T4
- Vitamin B12
- Vitamin D, 25
- Vitamin A
- Vitamin E
- Vitamin K1
- Methylmalonic Acid
- Zinc, serum
- Homocysteine
(more…)
Rosa
November 3, 2015
Tests & Evaluationsiron, leaky gut, selective iga deficiency
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The testing at the motor cognition lab went well. CB was easily redirected and tried to a certain degree on all the activities/tasks requested of him. I got the chance to observe the testing and was impressed with CB’s skills on the verbal component of the testing, his tossing skills, and with some of the comparison components of the non-verbal portion. Prior to the moment of testing, we were unaware that administration of an intelligence test was planned. Many times intelligence tests may not accurately reflect your child’s mental capabilities when they have verbal difficulties and/or motor-planning issues. Since CB is younger than most of the kiddos they test, there were only 2 tests they administer that applied to CB. One was an intelligence test, Kaufman Brief Intelligence Test, 2nd ed. (KBIT-2), and the other was the standard test provided for evaluating motor skills for a child suspected of DCD (Developmental Coordination Disorder), Movement Assessment Battery for Children, 2nd ed. (MABC-2). We also completed a parent response test related to his sensory needs. Some positive findings were that the intelligence tests prove that CB’s motor skills are not due to a lack of intelligence and that the researcher was impressed with the progress CB has made since we last talked. We knew that CB is an intelligent boy and that his motor-planning issues are not related to a mental deficit. It is nice to see that reflected in the testing, as well. The results of the motor test still conveyed a severe issue with motor skills, but the researcher felt very optimistic about his suspected prognosis. She wants to test him again around his 6th birthday and she thinks the gap between his skills and a typically developing child’s skills will more closely align. She also thinks CB will eventually be mostly indistinguishable from his typically developing peers. This is all fantastic news! It doesn’t mean we are able to lay off any of his therapies or diet restrictions but what it does mean is that the therapies and diet ARE HELPING!
(more…)
Rosa
October 8, 2015
Allergy, Diet, & Supplements, Tests & Evaluationsdevelopmental coordination disorder, dyspraxia, fish oil, potty-training, testing, unintegrated primitive reflexes, whole exome sequencing
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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.
Rosa
September 24, 2015
Tests & Evaluationsgenetics, kidney
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