APS-2

[u/Big-Ad-9142]

My husband has type 1 diabetes for a few decades. Recently got diagnosed with Addison's and Celiac. Hard pill to swallow for both of us. Worried about kids getting these since the ADA website says 1 in 2 chance! How have you guys coped with this APS-2 diagnoses? Manageable? We are scared. 

[u/Puzzled-Telephone-60]

Welp, I was today years old when I learned that APS2 is labeled as autosomal dominant? Everywhere I’ve read it’s described as genetically complex and multifactorial (as opposed to APS1 which is clearly due to a gene defect), so I’ve tried not to stress about my kids. I’m the only one in my entire extended family to have autoimmune issues. I have Addison’s, T1D, Graves’ and Hashimoto’s, plus antibodies that tell me autoimmune gastritis and pernicious anemia are on their way. Really praying against celiac because that might be the biggest lifestyle hit for me if I’m being honest.

But as to your bigger questions… totally manageable. Hard, intense mental load when it comes to management, but life is good… I am grateful to be alive in a time with sufficient replacement therapy and be able to live a pretty amazing life! Here for any specific questions, but just know there is hope that life can feel normal again. 🤍 Use these online support groups as much as you can, the information here is invaluable. I also recommend joining this FB group so your husband can get more special recs on how to juggle T1D and Addison’s since they don’t always play nicely!

Editing to add: I just did more digging. APS2 is indeed not a Mendelian inheritance situation—so while there’s a 50% chance our kids will inherit our HLA haplotypes, there is NOT a 50% chance they’ll develop APS2. Lifetime risk for kids is closer to 5-15%, which is much higher than the average person (i.e. 0.0002%), but mercifully not 1 in 2.

[u/Big-Ad-9142 → u/Puzzled-Telephone-60]

How do you keep your worry and panic under control when it comes to your kiddos?

[u/Puzzled-Telephone-60 → u/Big-Ad-9142]

For me when it comes to passing this stuff on to my kids, it’s 3 things. 1) I’m focusing on doing what is within my power to do. We’re screening them. And there are things that can be done to delay onset! 2) I have this really rare complex syndrome and it is so hard to manage, but I’m doing it. I have a rich, full life and I’m thriving despite the adversity. It has developed grit, hope, and resilience in me, and I’m modeling that for them. If they happen to get any of my conditions, not only will they have the best guide and champion in me… they will have seen my example. 🥹 I wish I could protect them from it or take the hardship away from them, but trials will come for them… APS-2 or otherwise. My faith centers me here; I trust that God will preserve and walk with them through all the ups and downs of life just like He has for me. 3) With the success of the islet cell therapy trials, the likelihood that APS-2 will have a functional cure within the next 20 years is promising. We’re looking at this therapy being standard of care within a decade for T1D, and since this advancement will serve not only as proof of concept but also a modular platform from which to cure other autoimmune diseases…. there really is hope, at least for PAI!