Genetic Testing And Tissue Typing

[Motherbird7]

I first heard of celiac 6 years ago from a friend whose family was diagnosed and going through an adjustment crisis. Now it seems like it is my turn. Until the last couple of weeks, we had no idea how our separate symptoms might have been related all these years. Let me introduce myself and my sisters:

1. Me, the oldest at 40: I have had relatively few illnesses such as colds etc. and am a healthy weight for a mother of 7. However, I have been struggling 10-15 years with increasing feelings of undefined ill health, fatigue, uncontrollable sleepiness after meals, depression, pmdd, periodic migraines, chronic constipation, hypoglycemia, acid reflux, and nausea after eating. I early on realized processed foods were the worst and experimented with (uneducated) gluten free diets, sugar free, diabetic diets, raw food diet, whole food traditional etc. I never actually considered celiac even though my google searches of symptoms often led me to sites like this. My physician seemed to shrug off most of my concerns so I convinced myself this was what old age felt like. My poor brain functioning however was getting to be unbearable. A year ago after I started having strange gut attacks and suffered a terrible miscarriage, an exam and imaging revealed that my gall bladder and other organs looked fine but my thyroid was messed up. Hashimoto's and Grave's disease. After that I learned that my Mother, recently diagnosed with diabetes, has always had hashimoto's and my Dad Grave's disease.

2. My 37 yo sister passed away in January 2012 of complications from Lymphoma and Leukemia which she had been battling 5 years. When she was little, she was diagnosed with rheumatoid arthritis, suffered frequent headaches, and as a teen she was diagnosed with a rare autoimmune condition in her eyes. Her thyroid and gut problems that developed may or may not have been in part due to her cancer treatments.

3. 35 yo sister suffered a myriad of sensitivities to medications and symptoms over the years with decreasing overall health and chronic anemia. She also had preterm labor with both of her babies after months of bedrest due to contractions from an irritable uterus. Two months ago after enjoying a new whole wheat berry cereal for breakfast every day she developed a rash which her physician diagnosed as Dermatitis Herpetiformis and said she has celiac. She immediately went gluten free. I don

[beachbirdie]

1. Me, the oldest at 40: I have had relatively few illnesses such as colds etc. and am a healthy weight for a mother of 7. However, I have been struggling 10-15 years with increasing feelings of undefined ill health, fatigue, uncontrollable sleepiness after meals, depression, pmdd, periodic migraines, chronic constipation, hypoglycemia, acid reflux, and nausea after eating. I early on realized processed foods were the worst and experimented with (uneducated) gluten free diets, sugar free, diabetic diets, raw food diet, whole food traditional etc. I never actually considered celiac even though my google searches of symptoms often led me to sites like this. My physician seemed to shrug off most of my concerns so I convinced myself this was what old age felt like. My poor brain functioning however was getting to be unbearable. A year ago after I started having strange gut attacks and suffered a terrible miscarriage, an exam and imaging revealed that my gall bladder and other organs looked fine but my thyroid was messed up. Hashimoto's and Grave's disease. After that I learned that my Mother, recently diagnosed with diabetes, has always had hashimoto's and my Dad Grave's disease.

2. My 37 yo sister passed away in January 2012 of complications from Lymphoma and Leukemia which she had been battling 5 years. When she was little, she was diagnosed with rheumatoid arthritis, suffered frequent headaches, and as a teen she was diagnosed with a rare autoimmune condition in her eyes. Her thyroid and gut problems that developed may or may not have been in part due to her cancer treatments.

3. 35 yo sister suffered a myriad of sensitivities to medications and symptoms over the years with decreasing overall health and chronic anemia. She also had preterm labor with both of her babies after months of bedrest due to contractions from an irritable uterus. Two months ago after enjoying a new whole wheat berry cereal for breakfast every day she developed a rash which her physician diagnosed as Dermatitis Herpetiformis and said she has celiac. She immediately went gluten free. I don

[nora-n]

hi, I think the HLA testing is closely related to the HLA DQ testing for celiac, but not identical.

Anyone with access to lists of lab tests??? Skylark?

Here is what we get tested for, DQ2 and 8

Open Original Shared Link

but the charts on HLA DR also explain the alpha and beta chains.

Here more on HLA and they have an example of DQ2 from Ireland, and DQ6

Open Original Shared Link

[beachbirdie]

It doesn't look like the DQ association is an important factor. Since it is kind of a "maybe" as far as the marrow transplant people are concerned, they probably did not do any genes that would relate to celiac.

A chart is at the site of the Open Original Shared Link.

[Motherbird7]

beachbirdie and nora_n,

Thank you for your compassion and being so willing to share your experience. Technical difficulties have delayed my reply but also increased my gratitude for this community and those who share their time with such as me. I have had a more emotional time replying to your responses than I did my original post, I am not sure why. I am saddened that my suspicions are not dismissed because if I had paid more attention....if...if...maybe my beautiful sister would still be here.

I am also gladdened by the gift that knowledge of her death brings me, which is strength and determination to stick with a gluten free diet and a confidence in seeking answers for other family members including my children and hers.

I am more blessed than most with a husband who said first that 'We should all go gluten free to make it easier on you.' and children who are already used to my experiments with healthy food! But I am sure I will continue to need everyone here as we get through this learning curve. I have seven children who will start with their blood tests next week before anyone else goes gluten free.

Thanks again! Have a great day!

[Skylark]

I'm sorry for your loss. I can't imagine losing my brother so young.

The genetic testing is sort of a moot point. We don't have all the celiac genes defined out very well (HLA-DQ is clearly not the whole story), and having a first-degree relative with celiac is a much stronger "genetic test" than anything you could get at a lab.

I'm glad to hear you're gluten free and that it's helping.

[Motherbird7]

I'm sorry for your loss. I can't imagine losing my brother so young.

The genetic testing is sort of a moot point. We don't have all the celiac genes defined out very well (HLA-DQ is clearly not the whole story), and having a first-degree relative with celiac is a much stronger "genetic test" than anything you could get at a lab.

I'm glad to hear you're gluten free and that it's helping.

Thank you Skylark, I appreciate your kind words and also your comment about the stronger 'genetic test'. I have been able to relax about seeking more of that kind of testing and focus instead on the lifestyle I need to now live for my health and my children's future health.

[Motherbird7]

***UPDATE***

We were finally able to recieve a copy of the family's genetic testing for my deceased sister's HLA tissue typing. It seems they did include DQ for my (living) sister with dermatitis herpetiformis and I who are both a perfect tissue match but apparently not for my other sibs.

According to the Histocompatibility Report we are (have?) DQB1 06:04 and DQB1 05:01

I believe it means we are DQ1/DQ1 (as explained by a nurse) and do not have the DQ2 or DQ8 markers associated with celiac.

Anyone have more explanations? Let me know if you need any other info off the report.

Thanks,

Jacobi

[frieze]

***UPDATE***

We were finally able to recieve a copy of the family's genetic testing for my deceased sister's HLA tissue typing. It seems they did include DQ for my (living) sister with dermatitis herpetiformis and I who are both a perfect tissue match but apparently not for my other sibs.

According to the Histocompatibility Report we are (have?) DQB1 06:04 and DQB1 05:01

I believe it means we are DQ1/DQ1 (as explained by a nurse) and do not have the DQ2 or DQ8 markers associated with celiac.

Anyone have more explanations? Let me know if you need any other info off the report.

Thanks,

Jacobi

double DQ 1s are commonly associated with neuro problems from gluten/gliadin.

[nora-n]

yes, I have double DQ1, with DH

if you google hadjivassiliou, 20% of his gluten ataxia patients had DQ1