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HELP: Autoimmune in child? Lab results included
Thank you in advance. I'll try and give you the history and then ask my question.
So, history: my daughter is almost 5.5, lots of past medical issues included congenital heart disease. She has Raynaud's, Livedo Reticularis, and then a host of other "symptoms" including brittle hair, pale, dry skin, frequent measles-like rashes on her belly, horrible dental enamel, horrible chronic constipation, chronic floating stools, she's also very small for her age, and was diagnosed with autism (Aspergers) two years ago.
There's a huge family history of auto immune disorder, including my husband's father who has Rheumatoid Arthritis, then my mother has Raynaud's, Lupus and Sjrogens, my father and I have Raynaud's, as does her brother. There's also some genetic disorders in the family such as Turner Syndrome and CHARGE syndrome.
Doctors are finally starting to suspect that she may have an autoimmune disorder, their first suspicion being Celiac Disease. Anyways,our family doctor ordered some blood tests, including ANA and Celiac Screen (which we're waiting for), but the CBC did show several abnormal values:
Hemoglobin and Hematocrit were normal, but red cell count (ERC) was low: 4.24 (4.5-5.5)
Overall white cell count was normal but absolute neutrophils were quite low: 1.98 (4.0-10.0) and SEF neutrophils were also low: 0.28 (0.35-0.71).
Lymphoctyes were high 0.61 (0.28-0.52)
Reactive lymphocytes were high 0.05 (0.00-0.04)
IGA and sTSH were normal.
So, I'm wondering, what does all of this mean? I know that it means something is going on. It looks like could be a B12 deficiency which I know can come from celiac. But, what other possibilities are there?
So, history: my daughter is almost 5.5, lots of past medical issues included congenital heart disease. She has Raynaud's, Livedo Reticularis, and then a host of other "symptoms" including brittle hair, pale, dry skin, frequent measles-like rashes on her belly, horrible dental enamel, horrible chronic constipation, chronic floating stools, she's also very small for her age, and was diagnosed with autism (Aspergers) two years ago.
There's a huge family history of auto immune disorder, including my husband's father who has Rheumatoid Arthritis, then my mother has Raynaud's, Lupus and Sjrogens, my father and I have Raynaud's, as does her brother. There's also some genetic disorders in the family such as Turner Syndrome and CHARGE syndrome.
Doctors are finally starting to suspect that she may have an autoimmune disorder, their first suspicion being Celiac Disease. Anyways,our family doctor ordered some blood tests, including ANA and Celiac Screen (which we're waiting for), but the CBC did show several abnormal values:
Hemoglobin and Hematocrit were normal, but red cell count (ERC) was low: 4.24 (4.5-5.5)
Overall white cell count was normal but absolute neutrophils were quite low: 1.98 (4.0-10.0) and SEF neutrophils were also low: 0.28 (0.35-0.71).
Lymphoctyes were high 0.61 (0.28-0.52)
Reactive lymphocytes were high 0.05 (0.00-0.04)
IGA and sTSH were normal.
So, I'm wondering, what does all of this mean? I know that it means something is going on. It looks like could be a B12 deficiency which I know can come from celiac. But, what other possibilities are there?
Many minerals show normal levels in serum, yet might be low in the tissues. There are mechanisms in the blood circulation to keep everything balanced, so in most cases the blood tests will not reveal much.
Please make sure you ask for Methylfolate and Methylocobalamin B12 levels to be checked.
In your daughter's case the unmethylated forms of these could be actually normal to high, as her suspected MTHFR mutation
is responsible for them not getting converted to their methylated forms. So, if the doctor says that the results came back fine,
you should really question it.
I think because of the higher levels oxidative stress, toxicity and the lack of effective detoxification & antioxidant factors (mainly due to low glutathione production), there\s a higher degree of inflammation and erosion.
Chronically elevated acid levels will cause the body to steal calcium from the teeth, in order to buffer the acidity in the blood.
Pathogens and toxins in the oral cavity, left unchallenged, will contribute to most of the dental erosion.
I suggest you have her try Oil Pulling every morning, using coconut oil. This will help her eliminate billions of microbes and toxic molecules from her oral cavity, instead of creating erosion and havoc, not only in her teeth and gums, but her entire body.
The mouth is the main gateway into the body for infectious organisms and toxins.
Oil pulling, also known as "kavala" or "gundusha," is an ancient Ayurvedic dental technique that involves swishing a tablespoon of oil in your mouth on an empty stomach for around 20 minutes. This action supposedly draws out toxins in your body, primarily to improve oral health but also to improve your overall health.
Source: Fashionista online magazine.
Another thing to mention is to rule out the presence of candida.
In mainstream medicine, it is usually ignored, so perhaps mention this to her Naturopath.
On your own, you can have her do the ""Saliva Spit Test for Candida: if you go to the national candida center website-all lower case in one word with no spaces, it will be the second self-test,
under Tests. Very simple to do and almost immediate results.
Hope this helps and if ever need anything, just post again or
send me a message. I'm studying Naturopathic Medicine- Holistic Endocrinology module at present- and I'm already fairly knowledgeable in many areas where conventional medicine has
a poor record or has totally failed to address.
Blessings,
Niko
Please make sure you ask for Methylfolate and Methylocobalamin B12 levels to be checked.
In your daughter's case the unmethylated forms of these could be actually normal to high, as her suspected MTHFR mutation
is responsible for them not getting converted to their methylated forms. So, if the doctor says that the results came back fine,
you should really question it.
I think because of the higher levels oxidative stress, toxicity and the lack of effective detoxification & antioxidant factors (mainly due to low glutathione production), there\s a higher degree of inflammation and erosion.
Chronically elevated acid levels will cause the body to steal calcium from the teeth, in order to buffer the acidity in the blood.
Pathogens and toxins in the oral cavity, left unchallenged, will contribute to most of the dental erosion.
I suggest you have her try Oil Pulling every morning, using coconut oil. This will help her eliminate billions of microbes and toxic molecules from her oral cavity, instead of creating erosion and havoc, not only in her teeth and gums, but her entire body.
The mouth is the main gateway into the body for infectious organisms and toxins.
Oil pulling, also known as "kavala" or "gundusha," is an ancient Ayurvedic dental technique that involves swishing a tablespoon of oil in your mouth on an empty stomach for around 20 minutes. This action supposedly draws out toxins in your body, primarily to improve oral health but also to improve your overall health.
Source: Fashionista online magazine.
Another thing to mention is to rule out the presence of candida.
In mainstream medicine, it is usually ignored, so perhaps mention this to her Naturopath.
On your own, you can have her do the ""Saliva Spit Test for Candida: if you go to the national candida center website-all lower case in one word with no spaces, it will be the second self-test,
under Tests. Very simple to do and almost immediate results.
Hope this helps and if ever need anything, just post again or
send me a message. I'm studying Naturopathic Medicine- Holistic Endocrinology module at present- and I'm already fairly knowledgeable in many areas where conventional medicine has
a poor record or has totally failed to address.
Blessings,
Niko
Well, nice to see another Canadian who understands the issues!
Thank you. I don't know if she does those administrations, but I know she does the B12 injections. We see our family doctor to go over the test results a week from today,so I'm going to ask for B12 and folate testing in addition to running the other labs again (which I know he'll want to).
He did run electrolytes and then calcium, mag and phosphorous, as he was suspicious she may be deficient given all her cavities (16 in 4 years), but the labs actually were all normal, and actually all very much in the middle realm of normal, not borderline etc...
Thank you. I don't know if she does those administrations, but I know she does the B12 injections. We see our family doctor to go over the test results a week from today,so I'm going to ask for B12 and folate testing in addition to running the other labs again (which I know he'll want to).
He did run electrolytes and then calcium, mag and phosphorous, as he was suspicious she may be deficient given all her cavities (16 in 4 years), but the labs actually were all normal, and actually all very much in the middle realm of normal, not borderline etc...
Hi mshanson, I'm in Canada too (N. Ontario) and yes indeed, the system here is pathetic! I only use the medical system here for emergencies or for my own convenience , like certain tests. Last time I went was for x-rays for my fractured wrist after a cycling accident, 5-6 years ago.
My brother-in-law in Que, was scheduled for heart-valve replacement, having to wait for months. He went in for pre-op,with the surgery scheduled for the same day or the following morning.
He waited all day only to be told in the end that they wouldn't be able to get it done at this time and it would have to get rescheduled.
Now he finds out that they are missing some important medical documentation from his file and everything has been postponed indefinitely!
His own doctor's office was not aware of all this and asked him to go down and VERIFY that he did not have the surgery...as if he was making it up! What a Circus!!! Who's kidding who, here?
Anyway look up"genetic genie" for the genetic analysis If you do a search use the name without a space & instead of d o t c o m at the end,
put d o t o r g. (donation encouraged)
The robosensors .in medhelp can block links to websites, lol!
Another one is livewello, with much more information offered, It was $20 U.S when I had checked last.
If you decide for this, feel free to send me the results and analysis and I can look it over. Some of the information on the reports is kinda generic and I may able to detect some subtle yet important abnormalities.
One more thing before I go.
Ask the Naturopath if s/he can do B6, Methylocobalamin and Methylfolate IV administration.
Your daughter's profile points to deficiencies due to digestive and absorption issues, so oral vitamins and supplements may not do it.
The aforementioned vitamins are "Methyl Donors" making up for the
lack of the enzyme MTHFR (same name as the gene) necessary for
methylation processes-which is in your daughter's case due to the MTHFR mutation (Highly suspect!)
This will speed up things for her, as time is of essence.
The longer methylation is impaired the greater the chances for the onset of infections, A/I and Neurodegenerative diseases.
I oversimplify my comments for obvious reasons.
Blessings,
Niko
My brother-in-law in Que, was scheduled for heart-valve replacement, having to wait for months. He went in for pre-op,with the surgery scheduled for the same day or the following morning.
He waited all day only to be told in the end that they wouldn't be able to get it done at this time and it would have to get rescheduled.
Now he finds out that they are missing some important medical documentation from his file and everything has been postponed indefinitely!
His own doctor's office was not aware of all this and asked him to go down and VERIFY that he did not have the surgery...as if he was making it up! What a Circus!!! Who's kidding who, here?
Anyway look up"genetic genie" for the genetic analysis If you do a search use the name without a space & instead of d o t c o m at the end,
put d o t o r g. (donation encouraged)
The robosensors .in medhelp can block links to websites, lol!
Another one is livewello, with much more information offered, It was $20 U.S when I had checked last.
If you decide for this, feel free to send me the results and analysis and I can look it over. Some of the information on the reports is kinda generic and I may able to detect some subtle yet important abnormalities.
One more thing before I go.
Ask the Naturopath if s/he can do B6, Methylocobalamin and Methylfolate IV administration.
Your daughter's profile points to deficiencies due to digestive and absorption issues, so oral vitamins and supplements may not do it.
The aforementioned vitamins are "Methyl Donors" making up for the
lack of the enzyme MTHFR (same name as the gene) necessary for
methylation processes-which is in your daughter's case due to the MTHFR mutation (Highly suspect!)
This will speed up things for her, as time is of essence.
The longer methylation is impaired the greater the chances for the onset of infections, A/I and Neurodegenerative diseases.
I oversimplify my comments for obvious reasons.
Blessings,
Niko
Wow. Thank you. I've heard of MTHFR,but I didn't really know what it was, or what the symptoms were. We're in Canada, and the system is horrible here. Just referrals and long wait times. We finally paid to take her to a naturopath and she is the first one in five years who has started connecting all the dots and feeling (like I have), that there is something bigger underneath all of this. I have wondered about genetic testing, because between my maternal family history of auto immune disease, the genetics (my sister has Turner Syndrome), then the fact that our son has Sensory Processing Disorder with Tourette Syndrome, and our daughter was born with the two heart defects and now autism and all these other things... It just seems to be there HAS to be something genetic in all of this. I would love it if you could send me the link for where to have the reports interpreted, for sure.
Oh my!
Well , I don't know where to start.
I'm so sorry for your girl's suffering.
I'm also sorry to realize the sad state and incompetence of the medical system (and professional bias) when I read stories like yours.
A methylfolate deficiency is one of the risk factors for CHD!
98% of children with Autism have an MTHFR genetic mutation which inhibits their ability to turn folate into methylfolate efficiently!
The same goes for cobalamin B12 which does not get converted to methylocobalamin.
These methylated forms are the neurological forms of the corresponding
B vitamins. Without adequate amounts of methylfolate and methylocobalamin, methylation processes are impaired.
What does this mean?
Your daughter may not be able to:
Detoxify properly ,counter oxidative processes, recycle toxic homocysteine into methionine (high homocysteine is a high risk factor
for cardiovascular diseases -beyond her CHD - and neurodegenerative diseases), produce enough glutathione, fight off infections and diseases and a lot more! All the cells in the body are totally methylation-dependent in order to function properly.
MTHFR can also be a risk factor for Livedo reticularis.
Viral and toxic loads from numerous vaccinations, have further contributed to her already compromised immune system.
Most of her symptoms are very consistent with MTHFR gene mutations and considering both families genetic profiles, she may be homozygous
(having inherited one defective gene copy form each parent) putting her in a higher risk category.
You can spend the rest of your life taking your girl from doctor to doctor and from test to test. There's no way a child can have so many imbalances, conditions, symptoms unless there's a major underlying factor! And everything points to what I mentioned above.
I am totally puzzled, why none of her doctors so far has not even mentioned this!
The priority is to rule out a MTHFR 677 and/or MTHFR 1298 gene defects,
because their damaging effects can be mediated !!!
I would seriously take a different road than the one you are presently on.
First, I would get a genetic report-23andME, which I have used, is the cheapest, but you only get a report and then you need to get it interpreted.
Let me know and I'll send you the link to a company that will analyse it for free or very little. I forget the name presently, but I have used them in the past
The next thing to do, if indeed positive for MTHFR mutations, would be to get a doctor who specializes in treating such conditions and autism. It is a rather new field (epigenetics and nutrigenics) but it has come a long way in a short time, with remarkable success, when compared to other specialties who offer nothing but symptom management drugs and a gazillion tests.
OK, I did not intend to vent, but I did and it's out of me for now.
Please let me if you need any more information, however, I must mention,
my comments and suggestions are not intended to replace medical advice.
Best wishes to you and your daughter.
NIko
Well , I don't know where to start.
I'm so sorry for your girl's suffering.
I'm also sorry to realize the sad state and incompetence of the medical system (and professional bias) when I read stories like yours.
A methylfolate deficiency is one of the risk factors for CHD!
98% of children with Autism have an MTHFR genetic mutation which inhibits their ability to turn folate into methylfolate efficiently!
The same goes for cobalamin B12 which does not get converted to methylocobalamin.
These methylated forms are the neurological forms of the corresponding
B vitamins. Without adequate amounts of methylfolate and methylocobalamin, methylation processes are impaired.
What does this mean?
Your daughter may not be able to:
Detoxify properly ,counter oxidative processes, recycle toxic homocysteine into methionine (high homocysteine is a high risk factor
for cardiovascular diseases -beyond her CHD - and neurodegenerative diseases), produce enough glutathione, fight off infections and diseases and a lot more! All the cells in the body are totally methylation-dependent in order to function properly.
MTHFR can also be a risk factor for Livedo reticularis.
Viral and toxic loads from numerous vaccinations, have further contributed to her already compromised immune system.
Most of her symptoms are very consistent with MTHFR gene mutations and considering both families genetic profiles, she may be homozygous
(having inherited one defective gene copy form each parent) putting her in a higher risk category.
You can spend the rest of your life taking your girl from doctor to doctor and from test to test. There's no way a child can have so many imbalances, conditions, symptoms unless there's a major underlying factor! And everything points to what I mentioned above.
I am totally puzzled, why none of her doctors so far has not even mentioned this!
The priority is to rule out a MTHFR 677 and/or MTHFR 1298 gene defects,
because their damaging effects can be mediated !!!
I would seriously take a different road than the one you are presently on.
First, I would get a genetic report-23andME, which I have used, is the cheapest, but you only get a report and then you need to get it interpreted.
Let me know and I'll send you the link to a company that will analyse it for free or very little. I forget the name presently, but I have used them in the past
The next thing to do, if indeed positive for MTHFR mutations, would be to get a doctor who specializes in treating such conditions and autism. It is a rather new field (epigenetics and nutrigenics) but it has come a long way in a short time, with remarkable success, when compared to other specialties who offer nothing but symptom management drugs and a gazillion tests.
OK, I did not intend to vent, but I did and it's out of me for now.
Please let me if you need any more information, however, I must mention,
my comments and suggestions are not intended to replace medical advice.
Best wishes to you and your daughter.
NIko
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