New Family Desperate For Sensible Advice

[Mia's Mum]

Hi all

I am new to the forum, from the UK and desperate for some advice. Our Daughter is 8 and had a positive anti ttg blood result last June followed by a positive anti endomycial antibody blood test last September. She has always had terrible stomach problems and I have cousins with Celiac Disease.

Unfortunatly she also has a rare medical condition called Mastocytosis which leaves her at risk of anaphylaxis with multiple medications including anesthetic. She also has a risk of easy bleeding and has dreadful nosebleads which are difficult to stop.

She has been on a gluten free diet for a month, while her colour and energy have improved and she visits the toilet less, she does still have stomach pain and sickness feeling but his has imporved a bit.

We are having a dreadful time with doctors. She was seeing doctors who were happy for her to be gluten free for 3 months and then re test antibodies to confirm Celiac. Her case has just been taken over by different doctors though who without seeing her medical notes are insisting on 2 biopsies and want her back on gluten.

She does not want a biopsy, there are increased medical risks of her having a biopsy. It looks like we will have to fight the doctors if we refuse the biopsy. Has she improved in health enough for us to say no to the biopsy, how long should it take to feel well? I know it can be very difficult to give advise on limited info but we could really do with hearing other parents' thoughts instead of being confused by different doctors.

Many thanks, Kathy

[nikki-uk]

Hi Kathy

Under the circumstances with your daughters medical history I think you are completely in the right to refuse biopsies for her ....... don't doubt yourself!

You are on the right road, keep at it...it can take a while for things to settle down.

Now, IF, when your daughter is older and stronger she wants to, she can do a 'gluten challenge'.

I do sympathise as in the UK you are under alot of pressure to have the 'gold standard' biopsy diagnosis........ but I think 'Mum knows best' in this instance

[taweavmo3]

I'm so sorry you are having such a tough time with the doctors! What a tough position to be in. I would definately go with your instinct here....honestly for us, having a confirmed diagnosis through a biopsy did not make much of a difference. We did the biopsy, the doctor called us with the positive diagnosis, and we went gluten free. We have gone back to the GI twice for a recheck of her antibodies.....but clinically she was so much better, I really didn't need a blood test to confirm that.

After the actual diagnosis, our GI doc has done nothing else for us. When my other children began showing signs of gluten intolerance, I had the pediatrician do a Celiac panel, which came back negative. I had no problems by that point just taking them off gluten, and if it had come back positive, I would have skipped the biopsy. Once I read more about the false negatives on bloodwork and biopsies in children, I stood back and asked myself what there was to gain by waiting??? They would just get sicker and sicker...and this was their childhood, which is far too short to waste any of it feeling crummy.

It's a very personal decision, but there is so little that doctors do after a diagnosis, I really don't see the push to have a confirmed positive biopsy. And in your daughter's case, I think the risks far outweigh any benefit. The gluten free diet ususally leads to an overall healthier lifestyle....to me, it just seems common sense to stop eating something that makes you feel bad! It's easy and risk free, and much safer than sedating an at risk child.

Sorry for the novel, I hope my rambling helped a bit! Best of luck to you.

[purple]

Many others on here have stated to give up dairy also, it might help with her tummy pain I hope!

[Kibbie]

I highly recomend Gluten Free Living for Dummies ... it helps to take some of the fear away from what yuo read on some websites!

[Mother of Jibril]

Unfortunatly she also has a rare medical condition called Mastocytosis which leaves her at risk of anaphylaxis with multiple medications including anesthetic. She also has a risk of easy bleeding and has dreadful nosebleads which are difficult to stop.

Wow... whoever suggested the endoscopy must not understand anything about mast cell disorders! Good for you for asking questions and being proactive

Honestly, I don't see any reason to do the endoscopy. Whether your daughter has celiac disease or gluten intolerance, the treatment is exactly the same... a 100% gluten-free diet. This is one case where the risk of the endoscopy FAR outweighs the benefits. If there's ever doubt in the future she could always do the gluten challenge (as nikki-uk suggested).

[Mia's Mum]

Thank you so much for your replies, I am touched by your kindness. It makes a huge difference to hear from people who know what they are talking about but aren't obsessed with gold standard diagnosis.

My little girl has improved since going gluten free as I said before but is still getting GI symptoms on and off during the day. She is no longer getting stomach cramps so badly that she cannot move though nor being woken at night with pain. I forgot to say that Mastocytosis almost universally gives GI symptoms too so what remians could be from one medical condition, the other or both. Certainly the difference in her energy is huge, I think she was aneamic before as she got paler and weaker all the time and could barely manage activities before she went gluten-free.

A blood test was ordered and taken for to check her for lactose intolerance but was one of the many blood tests blocked by the hospital lab. Perhaps taking her off milk is the next step, she will not be happy. First I am trying a medication for stomach symptoms of Mastocytosis though.

Around how long should it take to fully stop getting stomach pains after going gluten free, also how long does it take to see a difference after going lactose free?

Thank you so much again, we are fighting thedoctors and will continue to do so. Kathy

[debmom]

My daughter didn't become pain free until the end of the sixth week gluten free. She did start showing improvement after a few days, but I was discouraged because I had read that it would only be a few days or a few weeks at most before her symptoms abated completely. I was in communication with a wonderful doctor in Richmond online who told me to keep her on the diet and that it could take 6-8 weeks for her pain symptoms to go away since she had gotten so very sick on the gluten. She was right.

Stick to what you are doing and avoid the biopsy. We had a biopsy that showed some changes but not the classic symptoms of celiac. Nonetheless, she reacts violently if she has any trace of gluten at all.

Good luck--

[mimommy]

I am in the US, so am unfamiliar with the medical system in the UK. What was meant by "tests blocked by lab"? Would it be possible for you to have the genetic testing for the celiac genes, instead of biopsy? It seems to me that if the patient has the gene/genes and and positive dietary response, this should be enough to diagnose in a case with high risk. Ultimately, changing the diet can not harm the child, and has every chance of helping heal. The only risk involved is that a gluten challenge would be necessary to do the biopsy later, if needed.

I know how frustrated and helpless it feels to be searching for answers. My child suffered terribly, for far too long. It seems like every MINUTE that they are ill is a lifetime. My daughter's first celiac panel was negative (she was so sick she hadn't eaten in nearly two weeks, vomiting and D.) Her second blood screen was very positive, after only minimal consumption of gluten. The first pathologist reading the biopsy results said it was negative (diagnosis: acid reflux). The second pathologist said it was positive (diagnosis: sub-total villus atrophy.) This diagnosis took exactly one whole year and my feeling that my child was needlessly suffering and having untold damage to her body occur while finding the right professionals is profound.

Follow your instincts. You know your child better than anybody. If you feel that a test needs to be done and your med. won't do it--push. If you feel that something is too risky--don't do it.

I really sympathise with you on this. Keep us posted and good luck/good health!

edit: I just wanted to add that I don't think you've gotten to the bottom of this yet. Keep looking for answers. My own gut instinct says you haven't found the true cause. If it is celiac, great--follow the diet carefully and let the healing begin--you may even see the other issues abate. But, don't let anything suspicious slide by unnoticed. Gluten free may seem to us who have witnessed the results to be almost "miraculous", but watch your child's symptoms and behavior closely.

And don't forget to get the help and support YOU need

[dilettantesteph]

My son had terrible nosebleeds since he was 2 years old. He was diagnosed with celiac disease at age 10 and the nose bleeds went away after going gluten free. They come back if he gets accidental gluten consumption. I hope that the nose bleeds go away with your daughter as well.

The way the diagnosis came about was that my son started throwing up about 10 times a day. The doctor said that she thought that it was celiac or acid reflux. Acid reflux medications didn't do much and the gluten free diet worked well. We didn't do any testing. I can't say that I recommend that because there were many times when we had trouble with the diet when it seemed like it must have to be something else.

One thing that helped me a lot was a tour with the store dietician. She has gluten intolerance and a lot of expertise in that area. She showed me that a lot of gluten free foods were not gluten free enough for sensitive celiacs. She showed me how to look for the warning: processed in a facility that also processes wheat. I found that those foods made my son sick.

Another thing that we did to help be sure that he did have celiac was a gluten challenge. My son got to eat all his favorite gluten containing foods one more time. This went for a couple of days until he got so sick that he wanted to stop. It was clear that he would not manage it long enough for accurate testing. I don't know if I would recommend this either because it made him sick for 2 months. The school was insisting on a definitive diagnosis though so we were trying to prep him for testing.

You got lots of good advice from others. Hope things go well. It is really hard to have a sick child.

[Mia's Mum]

Hi again and thank you again for the replies.

When she had her blood tests, the hospitals laboratory only did some of the requested blood tests. They stopped other tests from being done saying they were not relevant.

Some of the tests the laboratory did not do were the HLA genetic test for D2 and D8 markers - Celiac, the lactose allergy test and others for Mastocytosis. But the 2 tests that did get done and were positive were for 2 different antibodies (TTG AEA) relative to celiac, I was told the combined results were 95% accurate by a GI doctor.

Our daughter does have H2 antihistamines to help with stomach acid which can be caused by Mastocytosis too. It helps on occasion if she has it as soon as the pain comes onbut not often.

It will be a year in the beginning of May since she became considerably more uwwell hence us being very reluctant to put her back on gluten for the biopsy, added to the the anesthetic risk we would rather avoid this route unless we have no choice due to her health not improving.

From the varied responses and the amount she has improved so far I think the celiac diagnosis probably is right but I wish I could say she is totally better already and be sure.

I am very impressed one of you knows about Mast Cell Disorders, better than many doctors can manage.

I take it the good doctor in Richmond was Richmond London UK?

Interesting about the nosebleeds clearing up off gluten.

I will keep you posted on how she gets on. Kathy

[Mother of Jibril]

I am very impressed one of you knows about Mast Cell Disorders, better than many doctors can manage.

That was me

What made you (or a doctor?) suspect that your daughter has mastocytosis?

Last month I had my first anaphylactic reaction. Terrible itching, hives, diarrhea, vomiting, severe drop in blood pressure... thankfully I was still able to breathe and call 911 (I was home alone with my two small children). It turns out I'm allergic to peanuts, almonds, celery, parsnips, and four kinds of mold/fungus (which is strange, because six months ago I didn't have ANY food allergies). Thursday I had another attack I hadn't eaten anything for eight hours because I was getting ready for surgery to remove a lump from one of my lymph nodes. So... I suspect that attack was caused by emotional stress. I've been really, really strict about food.

I've been reading everything I can get my hands on. It's not as rare as I thought for adults to develop severe food allergies. One possible explanation is mastocytosis. Unfortunately, the first doctor I talked to about it (an allergist) blew me off... because it's a "rare" disorder and I'd have to have a "masto spot" (which is not true... plus he didn't bother to look for one!). It is FRUSTRATING trying to find a doctor who knows that they're doing. I'm sure your managed health care system adds to the frustration.

ps - You might be able to order a genetic test on your own (without a doctor's order)... that's what I did.

[Mia's Mum]

Our daughter was diagnosed with Mastocytosis at 6 months after gaining rapidly increasing numbers of Urticaria Pigmentosa marks on her torso. We were given the name of the condition but told it would go very soon and not to worry - yeah right!! Now we know different and I am a parent and children's advisor for our UK support group.

Mastocytosis is very rare, recent estimates I have heard are 1 in 500,000. You are right to consider Mastocytosis and need a knowlegable doctor to check for this to be able to rule it in or out. A good US website for information is TMS. From there you should be able to find a name for a US doctor who knows about Mastocytosis and can recognise the condition. Many have serious problems being diagnosed because it is so unknown. Also, no you don't have to have obvious marks on your skin to have mastocytosis. Some marks can be mistaken for every day skin markings and one rare type of Mastocytosis is not really visible if I remember right but I only know of one person with this.

If you can email directly through a link in this website I will also do whatever I can to help you find a doctor in your area or answer any questions - it is the least I can do after asking for help here.

I am sorry you had anaphylaxis while alone with your children, it is not something you want your children to witness and even less be alone with them at a time like that. I hope they and you are o.k.

I have just got our daughter back into bed (midnight here) after a nasty stomach reaction to chocolate which certainly is linked to her Mastocytosis not to Celiac.

Let me know if you cannot manage to email me direct from here. Kathy

[jmjsmomma]

I'm a new celiac parent myself so I can't offer much help, but I did want to welcome you and tell you that I hope you get the support you need.

[Mother of Jibril]

If you can email directly through a link in this website I will also do whatever I can to help you find a doctor in your area or answer any questions - it is the least I can do after asking for help here.

I really appreciate it! I just sent you a PM.

I have just got our daughter back into bed (midnight here) after a nasty stomach reaction to chocolate which certainly is linked to her Mastocytosis not to Celiac.

Did you check the chocolate for gluten ingredients? Sometimes it has traces of wheat.

I recently had to stop eating chocolate because of the peanut/tree nut contamination. I also found out that chocolate is processed with aspergillus mold <sigh> As much as I LOVE chocolate I'm feeling a bit better without it. Maybe I'll be able to try it again once my health is more stable.

[Mia's Mum]

I really appreciate it! I just sent you a PM.

Did you check the chocolate for gluten ingredients? Sometimes it has traces of wheat.

I recently had to stop eating chocolate because of the peanut/tree nut contamination. I also found out that chocolate is processed with aspergillus mold <sigh> As much as I LOVE chocolate I'm feeling a bit better without it. Maybe I'll be able to try it again once my health is more stable.

Hi. Yes, the chocolate was definatly gluten free. Her tummy was bad so quickly after eating it I guess she just had too much (though not loads) and it set her Mastocytosis off, her skin has been bad since too.

Kathy

[Mtndog]

Hi Kathy

Under the circumstances with your daughters medical history I think you are completely in the right to refuse biopsies for her ....... don't doubt yourself!

You are on the right road, keep at it...it can take a while for things to settle down.

Now, IF, when your daughter is older and stronger she wants to, she can do a 'gluten challenge'.

I do sympathise as in the UK you are under alot of pressure to have the 'gold standard' biopsy diagnosis........ but I think 'Mum knows best' in this instance

Hi kathy- I'm sorry to hear you and your daughter are having such a rough time- celiac and mastocytosis

I agree with Nikki's post. The good thing is the doctors can't force you to put her back on gluten (thank God!). Follow your gut- you know what's best for your doctor. Keep us posted.