Light at the End of the Tunnel

I have been MIA for the last few weeks and I wish I could say I was back in Bali sipping a fruity drink poolside. The truth is though, that life as the caretaker of someone with a rare disease has overtaken my world and my boundaries of trying not to share too much of our world while sharing enough to educate made me take a step back. The last post I made was our first trip to the ER....the belief was that it was a panic attack - in the last two weeks there have been 18 straight days of those same symptoms, two more doctors appointments, multiple messages with specialists, new medications and still no real answers, but yesterday we saw some light at the end of a this very dark tunnel....

You see, once doctors heard that he had been seen and that it was determined that it was a panic attack they never looked any further. We were watching our son writhe in pain, tremors attacking his whole body, heart palpitations, and in complete agony for over two weeks. Every time they checked his vitals they were good - there was no denying that - his heart was functioning properly. While this was great news, it did not help him feel any better.

His primary doctor also looked at all notes from the hospital and listened to his heart. This doctor decided to put him on a new anxiety medication. At home we were doing all we could when this would start to keep things calm - everything anyone would suggest, we have already tried. Our small circle who knows what we have been going through has given us suggestions and there was nothing we said no to trying if it may give him some relief.

Last weekend I thought I had a breakthrough and I stress dosed him for his Addison's knowing that with Addison's low cortisol creates many of these same symptoms. I felt that Addison's and panic were creating a cycle within him that were feeding into each other. And for three days he had a few good hours. Then on Monday, for no apparent reason (no med change, etc...) all of that changed and he was worse than ever. I called the on call endocrinologist because he was vomiting while on a stress dose - this is a clear indication of needing emergent help. I explained how the ER has not helped in the past - he still urged us to go. We went in and it was the same thing - EKG clear, all labs good, listened to his heart good and we were sent on our way. Even thought the paramedic who did the triage said that he could tell this was more than panic and that our son looked sick - by the time we were seen six hours later - that shift was gone. And so we were sent away again with many tears and no answers.

On little sleep and with even less patience I called his primary doctor first thing in the morning and was told we could not get in same day. I broke down in tears that none of us could live like this another day - they spoke to his doctor and got us in with another doctor who they felt could handle the situation. I went in skeptical, but that quickly changed....This doctor did something I had not seen in the last several appointments (and I am beating myself up for not noticing and calling them out for) - he examined our son!! Our son was having tremors and not one doctor we had seen in the last 2 1/2 weeks had done a neurological exam!! Now that exam was ok, but this doctor also checked his full body and found tenderness in the lower right quadrant of his abdomen, instigating some investigational testing. This doctor said he believes there may be some anxiety, but he has seen anxious young adults before and that is not how our son is presenting - he is presenting as sick. If you felt the way our son has for over two weeks and no one was taking it seriously - I think you would be getting anxious too!!

We left there with something we have not had in a long time - hope!! Our son asked me to stop for Chipotle on the way home and ate a whole burrito bowl (made very mildly to be safe right now) - first meal I have seen him eat excitedly in a long time. He then went to our community pool and just moved around for quite a while. He is not typically fan of swimming, but says that right now being in the pool is where he feels best. He is still experiencing symptoms, but the fact that he has somebody trying to help him as been so reassuring to him that we have seen glimpses of our son that we have not seen in weeks.

When I was beating myself up for not noticing that doctors had not actually fully examined him beyond listening to his heart until yesterday I reached out to a friend of mine in the rare disease world. This friend had been encouraging me to look for something more - she said doctors get stuck with this tunnel vision - especially in someone with a rare, complicated illness and want to attribute all that is going on to that and things that are known to complicate it or have similar symptoms and forget to look if there could be something else going on. I share this story that I was not sure how to share because I do not want others to go through what our son (and us watching our son) has gone through for the last few weeks. No one deserves to feel this way with no one looking for answers. Be diligent, advocate.