Looking for others with Telomere Biology Disorder

Hello -- I am a 42 year old woman seeking to connect with others who have been found to have shortened telomeres. Mine are in the 1st percentile. I also have unexplained mild biapical scarring in my lungs and Nodular Regenerative Hyperplasia in my liver, along with disruptive autonomic symptoms (namely, episodes of tachycardia, temperature dysregulation, and fatigue), and a widespread vascular (livedo/broken capillaries) type rash. With this latest genetics finding, I am heading to Mayo to see if they can put the pieces together for me.

Thanks for reading!

Welcome to Mayo Connect, @sinojosvacios. Telomere Biology Disorder is a new term for me. I found a number of articles including this from Mayo Clinic.
https://www.mayo.edu/research/centers-programs/center-individualized-medicine/patient-care/telomere-biology-disorders
Since this is a genetic disorder which can impact various areas of the body, being able to work with specialty care teams at Mayo, who work collaboratively with each other will be a great advantage for you,
Do you already have an appointment? Which Mayo campus will be visiting?

@loribmt hi, thanks so much for your response. I've been scouring the research on what it potentially means. Thankfully, I have the ability to read medical jargon, but it only gets you so far until you see the physician and have your own individual conversation and workup done. I sent my medical records in once I found out about the telomeres and immediately got a call back saying that the director himself at the main campus wants to see me and within the next 1-2 months. I'm not sure if this is a typical protocol to be told that I should only see one person and that it should be in such a short time?

Hi @sinojosvacios That was a fantastic response from Mayo! Yes, it’s typical to have placement with one specialist when first being seen. Being placed with the director of that department is excellent.
So, basically what happens at Mayo, and I’ve been on the receiving end of this myself, is that you’ll have a specialist who becomes essentially the ‘project manager’…just tossing that term out there loosely.
This first team will be responsible for blood work, lab testing, procedures, etc. Then, when results are in, consults will be directed to other departments if necessary. Those doctors then meet to discuss your case and boom, you have a collaborative team from all disciplines. And it’s usually all in-house. Once at the clinic, appointments can happen within hours and days. You’re not being sent from one clinic to another over many months just to get an appointment. It’s a beautiful thing! ☺️
From what I’m gathering with the quick response, is that your case is a bit rare. It has piqued the interest of the director. You’re also having symptoms and the sooner you get the testing and confirmations out of the way, the sooner they may find treatment options to get you back to health.

You mentioned the main campus. Is this Rochester? That’s my home away from home so if there’s anything I can help you with just let me know. In which department will you be seen first?

@loribmt Yes, it'll be at Rochester -- thank you for offering your support. Is there another more private way to stay in touch with you?

Hi @sinojosvacios Conversations we share here in the forum may also help others. But feel free to reach me privately by clicking on my avatar (photo). It takes you to my profile page. Under my photo it will say, Private Message.☺️

I didn’t realize you’re not a new member! Goodness, you’ve been active for a while, just in groups where I’m not mentoring! Sorry about that error on my part! Looking forward to following along with you on your medical journey at Mayo.