There are a lot of patients that present close to me, it’s just not what I have.

IE- I have mast cell activation but it’s not mast cell activation syndrome or mastocytosis.
My lungs don’t properly clear carbon dioxide, but I don’t have a lung disease.
Among other things like that.

I haven’t heard of this resource so anything new is good and helpful! Thank you! The closest thing to me is a family in Italy with a similar mutation.

I’m a real difficult patient. 😅 It looks like it could be a lot of things but it is none of those things.

I’ve had almost 500 blood tests. I haven’t counted since Feb and I’ve had tons done since then. Bone marrow biopsy, lung, skin,digestive biopsies, spinal tap, numerous CTs, MRIs, X-rays, PET scans.I’ve been to three teaching hospitals, multiple other hospitals. There’s findings but no one knows WHY

I’ve actually written my own research paper in to the mutation. I’ve spoken to scientist in Finland and Germany who agree that it’s most likely what’s wrong.(it’s what’s wrong.)

The problem is the US climate about scientists and super rare diseases.

I’ve been VERY on top of my medical stuff.

I need a machine that costs 6000 at its lowest, a centrifuge. It’s pricey. The tests themselves are 250 each. They EXIST, just no one to run them.

My doctor literally said- I’m not going to tell you not to do it. Cause he KNOWS it’s the genetic change. Literally stuck. It’s crazy

Structural modeling + labs suggest disrupted TIE2 signaling, barrier failure, and inflammation. Skin biopsy, PFTs, bone marrow, testing, symptoms all support the hypothesis.

They did. They said I could reapply but I just dont think studying something that only affects like 2 people in the world is important enough. Ill still try just dont know at this point.

The tests I need ran EXIST. I can even buy them. But no hospital runs them, only scientific labratories.

So I need the scientist or I have to buy a lab equipment and run them myself.

The next step was the NIH but that’s no longer possible. I either have to find a scientist, or, do experiments myself.

Yeah, we talked about doing it myself. CRAZY.

100% agree!

Love this song!!

I really love this program. 🥹

👀 Me with a riboflavin deficiency.

He’s ruining patients lives. We NEED the NIH. They don’t want us alive.