Undifferentiated Connective Tissue Disease

Hi Everyone, My 22 y/o son has just been diagnosed with UCTD and Lyme disease. He has had problems with his joints for many years- pain and tears in thumb, wrists, elbows, shoulder ankle, knees . He also has stomach issues - burning in stomach and upset stomach. It is very hard to get to see doctors here in Vermont where we live. I am wondering if anyone can share information about their path to treatment? Is there a clinic at Mayo for this disease? Where they have received excellent care and treatment? My son is really losing hope so we need to find a hospital or clinic who knows something about UCTD. Thank you so much, Jen

Has your son seen a rheumatologist for the UCTD?

Hi @fighter He has seen rheumatologists over the years - one said he had osteopenia, another thought he had psoriatic arthritis. We are now awaiting an appointment at UVM Hospital to see a rheumatologist there. The ND GP is who is referring us - she specializes in connective tissue diseases recommends he get a ligament biopsy to understand more about what is going on. I have also received 2 recs for the Brigham and Women's Hospital in Boston. They have a connective tissue clinic there.

@jenko108 At this stage, seems to me that its time to start grasping at straws. I know I have, and it has helped. I had a bunch of docs make wildly variant diagnoses. So I went to a company and got a limited genome sequencing. It was limited, but it got me started. Then I found the OMIM numbers and gene symbols for most of the diagnoses I had been given, and checked them out to see if I had any of them. I did, so I made my list and took it to me doc. He said That was a good thing to start with. Then He check it out, and settled on a few "most likely" candidates. He also found some lists of lab tests for these genes, and started making them. Finally, he was satisfied that he had found the answers I needed. Anyway, he said he had learned one thing from this. Gene sequencing is not always perfect, but it is very good place to start when you think you may need help. Some of these can be treated, some may not have a non-palliative treatment., but treatments are coming for many once a good diagnosis is made.

@oldkarl Thank you for your message. Would you be able to tell me what company you went to or, what I should search for in locating such a company? Also, what kind of Dr. did you bring the results to? I agree that this has gone on much too long and your suggestion sounds really great. Thank you!

Glad you're going to Brigham and Women's. From what I've read, they have a great Rheum Dept. there. I think you'll be happy going there. Wishing you the best.

@jenko108 Sure. I started simply, with Ambrygen.com. The first reading is free for either heart or neuropathy groups. Then I Did AncestryDNA.com, then LivingDNA.com, (The price is moving up, and there is a disclaimer about using this for medical purposes. That is the reason for working up to Nebula.com, as they are connected somehow with Mayo.) You have to be careful with the lists, as the tables are not formatted very accurately sometimes. But you can download the results, if you can handle a huge file. It is easier to work through Genome Explorer. It is a pretty good program. Most of these companies use the Explorer, but you must use in on line. I have talked mostly with my GP internist about this. But if you can afford it, a good geneticist is worth the money. And I have talked with my cardiologist and others. But even just Ambrygen.com will give you a great start. They turned me on to several inherited diseases, but if you have any diagnosis, you can pick the group that has or does not have included that in your choice of groups to analyze. I chose the one with Heart. There is a larger cost to do the second one.

My diagnosis was called “atypical connective tissue disorder” with some ot the things you mentioned like Sjögren’s syndrome etc

I’ve diagnosed w/UCTD and have been taking hydrochloriquine for 3 months with no improvement. I started st 1/2 dose so I am suppose to go full dose for full 3 months to rule out Sjornes disease. I also was diagnosed with Charcot Marie Tooth and hypothyroidism. My RA blood was positive but not for all categories, C3 & C4 levels are low as a WBC counts, and swollen salivary gland, hair loss, fatigue, painful sinus, dry mouth/skin. The good news is I’m not in much pain! Another weird rare disease to add to the list……

Also genetic testing through Stanford did not find defective gene, even though CMT is suppose to a genetic disease…..