Looking for a diagnosis for dd

amother

Mon, Jun 01 2020, 8:59 am

WitchKitty wrote:

No other ideas, but did you do Dor Yesharim testing? If yes, there are like 15 things you can take off your list.
I hope you find the cause as fast as possible. Hatzlacha!

Actually, I only did the Tay Sachs test.

amother

Red

Mon, Jun 01 2020, 9:00 am

Could it be an eating disorder that you may not know about? Many of the items on your list tick the anorexia/bulemia symptoms boxes.

amother

Mon, Jun 01 2020, 9:04 am

amother [ Red ] wrote:

Could it be an eating disorder that you may not know about? Many of the items on your list tick the anorexia/bulemia symptoms boxes.

She eats when she is able. Regular food like bread, pizza, cake ... she definitely doesn’t have anorexia or bulimia and just asked me if I can buy her a milkshake yesterday. It’s not an eating disorder.

simcha2

Mon, Jun 01 2020, 9:06 am

amother [ OP ] wrote:

She tested negative for celiac. The gastroenterologist we’ve been seeing says that certain things will show up in the blood work he ordered to indicate inflammation. Since there is nothing showing in the blood work he doesn’t think it’s necessary to do an endoscopy. He is treating this as IBS (medication) but it is not helping her fatigue or headaches.

Headaches can be a symptom of celiac (they are for me). Could you try eliminating gluten for a few weeks?

amother

Mon, Jun 01 2020, 9:30 am

simcha2 wrote:

Headaches can be a symptom of celiac (they are for me). Could you try eliminating gluten for a few weeks?

Even if it was negative through the blood test?

amother

Slateblue

Mon, Jun 01 2020, 9:57 am

Sometimes people can have a gluten allergy without celiac disease and have severe symptoms from gluten . I think the only way to confirm this is to go off of gluten for several weeks and see if symptoms go away . I would try functional medicine doctor. In the meantime eliminate gluten and dairy - most common allergens .

Frumwithallergies

Mon, Jun 01 2020, 10:05 am

Chronic headaches (chronic tension-type and chronic migraines) can give other associated symptoms (like fatigue, muscle aches and pains, poor concentration, etc) and have multiple causes. Often there are genetic factors (like a family member who gets migraines) and psychological factor. Together, they can influence how someone deals with headaches.

As long as she has been cleared with a normal neurological exam (including eyes) by a good neurologist then she may not need an MRI. I agree that she should be seen by a rheumatologist to check for inflammatory diseases (lupus, but also Wegeners, etc). The rheumatologist will also complete the blood workup if her pediatrician didn't.
Refua shleimah!

amother

Natural

Mon, Jun 01 2020, 12:09 pm

Ehlers danlos. Non celiac gluten sensitivity. Mast cell disorders. Mitochondrial disease. Wernickes encephalopathy.

How did you test for Lyme? With an Llmd ? Standard testing is not reliable.

amother

Mon, Jun 01 2020, 12:17 pm

amother [ Natural ] wrote:

Ehlers danlos. Non celiac gluten sensitivity. Mast cell disorders. Mitochondrial disease. Wernickes encephalopathy.

How did you test for Lyme? With an Llmd ? Standard testing is not reliable.

Gosh... where do I even start??

amother

Natural

Mon, Jun 01 2020, 12:19 pm

amother [ OP ] wrote:

Gosh... where do I even start??

if this were my kid I’d start by taking them off gluten and dairy for minimum 6 weeks.

Hugs. This isn’t easy. None of it.

amother

Blue

Mon, Jun 01 2020, 12:24 pm

amother [ OP ] wrote:

What kind of doctor diagnosed Gauchers?

beta-glucosidase leukocyte (BGL) test to check enzyme activity
it is important to know because then your other children would have a 25% chance of having the disease as well, even without symptoms. My friend had other children with it who exhibited no signs.

amother

Burlywood

Mon, Jun 01 2020, 12:28 pm

is the skin issue psoriasis bc then you can look at psoriatic arthritis (doesn't quite sound like it but maybe the aching jaw is)

Either way see a Rheumatologist bc the bloodwork can also be for lupus

Re the thyroid have you done a complete panel as recommended on stopthethyroidmadness.com and looked at the ranges NOT the lab suggested ranges. She can be getting away with an undiagnosed hypo or hyper thyroid issue

amother

Linen

Mon, Jun 01 2020, 12:50 pm

Going through the same.
Only advice is excellent rheumatologist. Trying steroids in the hope that it’s an undiagnosed autoimmune.

FranticFrummie

Mon, Jun 01 2020, 4:26 pm

If all else fails, then ask for a SPECT scan. They are insanely expensive, and the insurance will fight you all the way. It's worth getting it done, so push as hard as you can. You'll need a neurologist for this.

If the scan shows abnormalities in the autonomic nervous system, then you are looking at Myalgic Encephalomyelitis (often called severe CFS, but that is very controversial.)

M.E. is a diagnosis that in just now being recognized in the medical community, and it is still not well understood.

amother

Orange

Mon, Jun 01 2020, 4:46 pm

amother [ Natural ] wrote:

if this were my kid I’d start by taking them off gluten and dairy for minimum 6 weeks.

Hugs. This isn’t easy. None of it.

I would do the same. Probably even follow AIP diet for 6 weeks, if child agreed as that can really help reset the immune system.

amother

Pumpkin

Mon, Jun 01 2020, 10:21 pm

I had similar symptoms when I was a young teenager and my doctor gave me b12 shots I was totally cured. They're was no mono or cmv then but was similar