It's Official...

[lmb3]

My son went to see the head of neurology at Cincinnati Children's Hospital this morning for a follow-up. Despite a negative biopsy in June for Celiac Disease, he is being officially diagnosed with Neurological Celiac Disease. Whoohoo! It has been a long fight and I am so glad that this is over.

The doc even admitted that they would be using my son's case to educate interns/residents and such to a neurological form of Celiac Disease, what to look for and how to appropriately manage it. He even mentioned that with this form of CD, you can't expect a positive biopsy. Michael's case will be used as an example of successful diagnosis with successful ongoing management of Celiac Disease. Wow - how exciting is that!

I am hoping that everything that we have gone through (and that is a lot) over the past few years will help someone else in the near future. His neuro stated that the next step is looking into how they can prevent a neurological form of Celiac Disease going undiagnosed for as long as Michael's and therefore preventing the type of damage that Michael received. We started this whole thing when he was 2 and he is now 7. 5 years of our lives dedicated to getting him a diagnosis.

Due to a great team of docs, me pushing what was right for Michael and a great team of therapists, we are now on a maintenance schedule of only seeing neuro once a year. That's a heck of a lot better than 1x/4 weeks! Anyway, I owe a thank you to everyone here. Without the pool of knowledge here, I couldn't have pushed this as far as I did. Thanks everyone!!! :D

[jcc]

CONGRATULATIONS!

You deserve applause for your perserverence. If I was better with graphics, I'd work that out somehow...but, I'm not... so just know I stopped my typing for a moment and gave you some real applause :D.

There were moments when I wondered how you had the stamina to put yourself and Michael through all this, including Michael's gluten challenge..... but now you have a diagnosis and more importantly... OTHERS will benefit from your experience, not only here, but in the medical professional world, too.


Despite a negative biopsy in June for Celiac Disease, he is being officially diagnosed with Neurological Celiac Disease.

The doc even admitted that they would be using my son's case to educate interns/residents and such to a neurological form of Celiac Disease, what to look for and how to appropriately manage it. He even mentioned that with this form of CD, you can't expect a positive biopsy.


This IS a huge milestone.

Congratulations!

Cara

[NancyM]

Can you tell the story of how this played out? Did you simply try the diet and go from his response?

Congratulations!

[lmb3]

It is a long story - and no, it isn't quite that simple. I will try to spell it out here, keep in mind it will be highly simplified. This is broken down by age.

Age 2 - sees neurologist for balance issues (after 1 year of prodding pediatrician that there IS a problem!).

2 1/2 - Blood test for CD. Result - elevated antibodies
- Begin GF diet and was released from Neuro

3 - I complained to GP re: continue balance/speech issues
- Re-do Blood test for CD - Results - Normal
- Intestinal Biopsy - Negative
- MRI showing Cerebellar Atrophy, referred back to neurology

3 1/2 - dx: Ataxia (along with cerebellar atrophy) Battery of tests from neurology for every possible dx related to cerebellar atrophy and ataxia - all negative with the exception of slight mitochondrial dysfunction (turned out to be diet related), secondary CoQ10 deficiency (diet related), osteopenia (diet related)

4 - OT, PT, ST therapy begins. 6 month CoQ10 therapy trial - no tangible results

5 - Received walker

5-6 - Steroid trial for 9 months. Resulting in one major surgery for broken elbow w/pins after 2 months. At end of trial, another broken arm.

6 1/2 - 6 week gluten challenge w/ biopsy and spinal tap. Biopsy negative, Dx w/GERD, Spinal Tap showed elevated antibodies in the spinal fluid, but CD blood test was within normal range.
- Went immediately back on gluten free diet due to major symptoms during the trial.
- GERD untreated until symptoms appear

7 (oct '06) - GERD symptoms, started Zantac
- Stable and doing well in school. Only uses walker in school or crowded environments instead of all the time.
- currently waiting on approval from ins. for wheelchair to cover long distances.

October 30th - Celiac Disease with Gluten Ataxia diagnosis.

I know I am missing something, but I don't have my notes with me to refer to. I hope this sheds some light on things for those that haven't been following Michael's story. Let me know if you have any questions or want clarification on anything.

[lmb3]

Maybe I should add this on to my last post. The diagnosis was made due to symptoms, elevated antibodies during gluten trial (and antibody level pre GF), effectiveness of GF diet on ataxia, pulmunary, GI symptoms, familial history (mom and baby sister with CD) and (I love this one :rolleyes: ) all other neurological dx were ruled out.

Treatment: Possible MD (muscular dystrophy) treatment with intermittent steroids and therapies. We decided to forgo this treatment due to great progress made over the past 6 months. This treatment will be considered in the future if Michael regresses at all. Continue GF diet, increase B Complex intake, repeat DexaScans 1x/year until osteopenia is no longer an issue, and continue with therapies as deemed necessary by Rehab Doc. (ST - weekly, OT and PT once every 3 months as long as he receives intervention at school, we continue with personal trainer and he is in at least one team sport (TOP Soccer - soccer for kids with disabilities).

[RathyKay]

Congratulations! Well, not that he has it, but that you convinced the doctors he has it. Hopefully, it will help future kids.

Now... you need to update your signature.

[lmb3]

Thanks! I updated it. That actually felt good to put it in writing!

[pakisa100]

CONGRATULATIONS!!

What a thrill to know that all you have been through, will help so many others in the future!!:D

Kind regards,
KimS

[annelb]

I am so happy to hear that the doctors are supporting you now - no more gluten challenges :D I hope they can spare other children the years of pain from what they have learned from Michael. I am sorry Michael had to go through so much - now it is time for healing.

You mentioned osteopenia - has his vitamin D level been checked? Low vitamin D can cause loss of bone and muscle weakness.
Anne

[Electra375]

Wow. Until just now I had never heard of Neurological CD. Just WOW. I'm sure that dx did not come easy for the medical community, I'm really glad you and your family were able to perservere through this. It seems that your son is going to open doors for others and you just happened to meet the right doctors at the right facitility to make things happen.

Is he well on the GF diet? Are other foods also eliminated from his diet? You mentioned walker, is he free from his walker being Gluten Free or was the damage already done prior?

I can see that as a parents of a Celiac and with another child on the way, I need to be aware of all possibilities. My dh is the DQ2 carrier and so far he has passed it on to each of our kids, I am going to guess that he has 2 copies. I'm a computer warehouse of information and there just does not seem to be an end.

[Zonulin]

Wow Lisa, this is awesome news!! :D That just bowls me over that they're planning to teach interns and residents to recognize and diagnose this through these symptoms and lab results - how cool is that? What a wonderful legacy - you are some trail-blazer!!

I wonder if we should let Dr. Hadjivassiliou know about this? Cara? ;)

Karen

[lmb3]

Let me try and answer all your questions. If I miss one, just let me know.

He is currently on Vit. D supplement (when it's not sunny out anyway) to fight the osteopenia.

He still uses his walker when in crowded areas or going long distances. The damage to his brain was done in utero and he will always have ataxia issues. However, is doing so much better on a GF diet now than he even did before. I think all that experimentation of medications and such didn't do to well on his little body.

No other food is being eliminated, but I am keeping an eye dairy. He is voluntarily, but slowly removing this from his diet. That makes me think that it is bothering him and with his big sister and me both having problems with lactose, it is a red flag.

Dr. H has been an advisor on Michael's case for the past 2 years. I believe that without his input, we wouldn't have this diagnosis today!

[JudyLV]

Lisa,
I am sorry to hear of the diagnosis but am glad that it is recognized. I am sure many of those with other diagnoses, such as MS, could have been misdiagnosed and actually have neurological CD. I sure hope they start to teach this to medical doctors in all of the med schools in the near future. How are they going to educate all of those old neurologists out there?

Since Dr. H has been a medical advisor have you learned how to pronounce his name?

It is great that you kept pushing those doctors. Michael is very lucky to have you for a mom.

--Judy

[lmb3]

Pronounce his name...I don't think so. I never even got to talk to the man. :p I heard Michael's neuro say it once, but I didn't catch it. After that he referred to him as Dr. H.

Michael's neuro was quite surprised when he learned I had heard of Dr. H and what his view points are. I guess he didn't realize that I do my homework. He said he wasn't used to having a parent like me. Usually they just take his word for it and move on. Yeah, like I am going to take someone's word for my son's health and move on. :rolleyes:

[NancyM]

Thanks for summing up the story for those of us who have missed it! It sounds like he is improving now. I'm so happy to hear that.

[jcc]

After that he referred to him as Dr. H.

Well, he must be reading our forum then... since we call him Dr. H. :D

Yeah, like I am going to take someone's word for my son's health and move on.

:D :D

[Zonulin]

Scary that some parents DO (sounds like MOST of them do, according to that neurologist). :eek: We all need big buttons to wear to doctor appointments that state: "Warning: I question authority."

Karen

[pakisa100]

Karen!!

You are always SUCH a HOOT!! :D :D :D

We all need big buttons to wear to doctor appointments that state: "Warning: I question authority."

[kaylee]

Hi,

I just wanted to chip in some more well wishings and say how impressed I am with both your and your doctor's commitment to figuring out what has been happening for your son. At the broader level, I am also thoroughly bowled over by hearing that these findings will be used so constructively - for teaching future doctors. Who was it who said that all truth goes through the stages of being ridiculed, opposed, and then accepted as obvious? In any case, hearing your story suggests that for some enlightened doctors, with the undeniable help of observant and determined parents, we're edging however aggravatingly slowly closer to the end of that process ....

Best, kevyn

[diamondheart]

What a relief for you to finally get a diagnosis! I'm optimistic that those nerves will heal, but they take a long time. A friend of mine got hit by a car 18 months ago, and it severed her siatic nerve 90%! She is now walking without cruches, cane, or brace! Those nerves do heal, but it takes a while. Hopefully, as your son's gut heals, so will everything else. I also think probiotics are essential for gut healing.

Claire