If It's Not One Thing, It's Another....

Near the end of December our son had a routine endocrine appointment for his Addison's Disease. With Addison's Disease there are typically follow-ups every 6-12 months after one is stabilized to be sure that their maintenance dosing is still appropriate, to make sure other autoimmune diseases are not creeping in and just to check in on overall well-being (as that doctor has the best chance of understanding the complexities of this rare disease). I join our young adult son to these appointments, because they can talk about things that are complicated, but he handles other appointments independently. On the way to this appointment, I had that feeling in my mom-gut. His Addison's has been well controlled so I had no reason to feel that, but I did, and I just stuffed it further inside...

Being as involved as I am in various rare disease nonprofits, I was blessed to be able to have the best minds available assist me in choosing our son's endocrinologist after we relocated. There are very few perks to volunteering full time, but when it comes to the care of my son, if I get a perk - you better believe I will take it. And getting this endocrinologist was a huge blessing. Not only is he knowledgable about Addison's Disease, but he cares about my son and his well being and is willing to listen to us and work with us - I am not someone who just listens to their doctor's advice and asks no questions (surprise, surprise).

I have mentioned that my son's Addison's Disease has been fairly well controlled, but the previous 5 months had not all been smooth sailing of him medically. And again, our son was being told by medical professionals that everything he was feeling was due to mental health issues. I am a firm believer in mental health care and I do believe that our son has anxiety and I also believe that it is heightened in a person that does not produce any of your body's stress hormone naturally. But he was working hard and taking care of himself on that level and there was still something not right, his quality of life was suffering. I had been doing my own research and was looking at the possibility of POTS. When I mentioned this to his doctor he said he had thought of it reviewing his notes prior to this appointment. Then he walked out of the room to grab lab results from his nurse.....

And he came back with a look I have not seen in a doctor in all of my visits with two boys with complicated health issues. Our son's liver numbers were scary high!! Of course it could be from a number of things and rattled off a bunch of labs that he would be running right away. We set a date for follow up labs in three weeks and then again in four more weeks with another appointment then. Just imagine my son's stress now!!

I came home and did my own research. And I did some med changes (I do not recommend others do this without consulting doctors and/or pharmacists) that made sense to me as I could not get ahold of either of his doctors and they were medication changes that we knew from the past could be changed. In appointments he had in the following weeks I let doctors know what I had done. And yesterday we had his follow up labs - his liver numbers are already perfect!!

But, now we have to revisit the discussion of POTS. There have been more symptoms that could be attributed to that. And we never went any further in that discussion with endocrine after the startle of the liver labs. And this, my friends, is the life of a rare disease parent...