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Genetic Counseling ~ Big Day Tomorrow

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When I shared my POTS/Dysautonomia story I was knew to this forum and had just got my dx. I am so grateful for this forum and the amazingly smart, possibly genius people that post on here! Because of all of you, I am connecting dots that I never thought fit together. My 10 year old daughter has had health problems for quite a long time. She has had chronic GI and ear issues. She had tubes put in her ears after breaking her ear drum at the age of 2. When the tube was put in the ear continued to seep an enormous amount of fluid/debris and she had to have another surgery to remove the debris and tube. The ear never stopped seeping. We have been sent to Riley's Children's Hospital in Indianapolis only to have them confused as well. Last year, they thought they saw a cholosteatoma in her CT scans. They did another surgery and removed her ear drum only to find there was no cholosteatoma, just a lot of fluid and debris they cleaned out.

She has had chronic swimmers ear infections for several years. She was not getting the ear wet, we even switched her to dry shampoo and I supervised all of her activities making sure it wasn't getting fluid in it. Still, the swimmers ear continued and then she developed open sores in her ear canal. While all of this was going on she had terrible constipation from the time she was born. They had her on miralax and questioned her diet, and what I was feeding her. Then, her dentist had to do a dental surgery to fix cavities and said they were strange, almost like they decayed from the bottom up. With all of this going on she started to gain weight and complain of joint pain. Going to the store became so hard on her she would be limping by the time we got through the parking lot to the doors. Most doctors wrote all of this off as me probably feeding her junk and a lot of it, making her inactive, overweight and constipated. We live in a rural area and grow a lot of our food. We eat pretty clean. I couldn't understand it.

I kept blowing my POTS symptoms off trying to help my daughter out and last year at a loss I prayed that I could help her and start finding answers. That there had to be something big the doctors were missing. That is when I started to get really sick. My dysautonomia was progressing faster and I had to turn my attention to start fixing me. I think it was an answer to my prayers! If I hadn't started getting bad enough to seek help I would have never found Dinet.

After reading your stories and looking at your dx's, by process of elimination I started narrowing it down. I believe we have EDS and mast cell issues. Last month at her ENT appt. the ENT was still baffled by her ear (which has lost 40% hearing and still has sores and fluid) and then he looked at her finger joints. Instead of being swollen at the joints like most people with arthritis symptoms her joints are sunken in. They look strange. She started popping her fingers at all the joints to show him her tricks. She has had this rash on her arms for years, doctors told me it was mosquito bites with scars or something she kept opening up. But, the rash seems worse in winter when we have no mosquitos. I discussed my issues with him and that I had a gut feeling the underlying issue was EDS and Mast cell. He didn't think it made since because we don't look like EDS people. (What the heck to EDS people look like!?!?) But, he took it as a bet and decided to refer her to a geneticist. On a whim, my PCP referred me and tomorrow, my daughter and I both have our 1st appt. I am so excited to possibly get some answers to atleast point us in the right direction and I would have never pushed so hard if I had not found this forum! Thank you SO MUCH for sharing your stories!

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I hope you guys get some of the answers you are looking for tomorrow! As the mother of a sick child(son), I can definitely sympathize with you. Keep pushing for answers. I also agree that this forum is invaluable. Another member on here nudged me to look into MCAS in my son, and I just didn't think it was an issue. Once I finally took him for evaluation...Viola! He has MCAS.

Good luck on finding those answers,


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Ugh! EDS people look like regular people! Except in the Vascular type, there's no predominating facies, only a few features here and there (epicanthal eye folds, the antimongoloid slant.) That doesn't mean you can't have it.

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With the infections there is another condition you might look into. The global name is primary immune deficiencies, there are a handful of sub diseases under that heading. I have CVID/hypogammaglobulinemia. I also have several autoimmune diseases and autoimmune small fiber neuropathy causing my autonomic dysfunction. I am improving with the current treatment plan I am on. If you've got some time go to primaryimmune.org and read up on them and see if one fits your daughter. It will give you something else to bring up to the genetic doctor. They are doing research already on defective genes for it. Dr. Charlotte cunningham rundel is the doctor doing that research.

It can take a long time for genetic tests to come back, so just be prepared for that.

My best to you and your girl!

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Oooh I hope everything goes well for you both.

One thing I would ask about with the teeth problems and ear problems, just ask about them checking the AIRE gene.

I just had mine done and results aren't back yet, but it involves the Thymus gland, AIRE actually stands for Auto Immune Regulator. She sounds lot like me as a kid only hers sounds more severe.

With her ears too, has she ever had vestibular testing???

Fingers crossed

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