My daughter has suffered a myriad of symptoms since the age of seven. She is now 18 years old. Her geneticist asked recently if anyone had ever suggested she be tested for mast cell activation syndrome.
After reading the symptoms common to this disorder, I feel strongly we may finally be on the right path.
My question: Does anyone here with a mastocytosis or related disorder ever have a problem with the skin beneath and around your eyes turning dark, followed by swelling of the eyelids, itching and flaking skin? No one she has seen can offer an explanation.
She has type 1 and type 2 diabetes, IBS, history of singular cyst on her right Fallopian tube, chronic sphenoid sinus disease and polyp, elevated pyruvate and lactacte blood levels, high cholesterol, dermatographia, unexplained hard red bumps on her ankles, torso and face with pronounced itching and pain, chronically painful joints, especially ankles, knees, hips and shoulders, profound fatigue, autoimmune thyroiditis with goiter and hypothyroidism. She has a history of osteopenia, high calcium and very low vitamin D.
From what I have read, it sounds like this mast cell business could be the culprit. Her brother has historically produced a sunburn-like rash and itching with exercise and during times of high anxiety, as well as IBS. We all three flush easily.
If you have mast cell activation syndrome, could you please let me know if you have had any success with treatment and would you recommend a specialist? The geneticist is suggesting exome sequencing testing. Has anyone had that?
Thanks in advance for any input. It would be a godsend to finally know what is going on with our children.