Since we last met, I have seen a pulmonologist, neurologist, and a gastroenterologist. This is the first time seeing these specialists since I have moved and they were all new doctors for me. Also it is the first time seeing these specialist since being diagnosed with Loeys-Dietz Syndrome. Fortunately I’m at a large medical hospital so my doctors aren’t completely clueless about rare diseases.
Of the three doctors, the neurologist was the most straight-forward. I’m always amazed at how strongly neurologists want to fix headaches and migraines. I’m so used to living with the pain, that it seems almost insane to think that there could be any other way.
I mean seriously, do people actually live life without so many headaches? Is that a thing?
Anyway, the neurologist decided that we’re going to try new meds in order to get a handle on the headaches. So far, the meds aren’t working…I’ve stopped them and somehow I need to muster up the courage to tell the doctor. This will be the 2nd medication attempt that I’ve rejected. I almost feel guilty for still having a headache.
This appointment also resulted in a referral to the neuro-muscular clinic when I asked the neurologist about my CK levels being elevated at times. I would really like to know what’s going on with that. I’d rather my muscles didn’t quit so easily… Big babies (don’t tell them I said that..).
The pulmonology appointment was interesting. It started out with my seeing the doctor before my pulmonary function test. Already that had me a bit worried because I wasn’t supposed to see the doctor until after the test, but it turns out that he wanted to see me both before and after (Note: There are “perks” to having a rare diagnosis. One of these perks would be extra doctor time.).
Prior to the test, he talked to me about Loeys-Dietz Syndrome, said he spent the night before the appointment reading up on the disorder, and then discussed what he thought my trouble with breathing might be. His predominant theory was that I might have something called “tracheobronchomalacia” which is essentially a weakness in the connective tissue of the airways, allowing them to collapse at rest. He did say that pulmonary hypertension was also a consideration based on my echo results. After our first talk, I had my pulmonary function test and then was returned to my appointment room to wait to discuss the results with the doctor.
I was terrified, anticipating horrible news, when I saw two doctors walk in instead of just the first one. Turns out the second doctor just wanted to see the rare patient (Note: Another perk to being “rare” is that doctors actually seek you out instead of vice versa. I’m not sure how much of a “perk” this really is at times…).
Welcome to Zoo of Oddities. In this room we have the rare and seldom seen Loeys-Dietz-Patient. I was not amused.
The end result of that appointment, however, was a diagnosis of asthma, an inhaler, and a referral to see a geneticist. I’m still not sure whether the genetics appointment is just one doctor sharing his “cool patient” with another doctor or if they actually feel that I need the appointment.
The GI appointment was definitely the most interesting appointment however. The doctor was clearly very excited to see a patient with Loeys-Dietz Syndrome and was thrilled to learn about the disorder and even more excited when I told him the specific gene that is mutated in my case.
The GI doctor also played a little “Dr. House” game. After first making sure it was alright with me, he brought in two doctors, at two separate times. He would say a brief overview of my symptoms, have me show some hypermobility “tricks”, and then had the doctor guess what they thought my diagnosis is. Interestingly, both doctors guessed Ehlers-Danlos Synrome. Both agreed that I didn’t have the normal Marfanoid characteristics, and neither one guessed Loeys-Dietz Syndrome. Although they both guessed that it was some sort of vascular connective tissue disease.
I appreciated the fact that they all addressed me with their guesses. I felt like I was more of an equal participant than an interesting oddity.
Both also suggested what to do next about my GI symptoms. One doctor was very eager to do GI scopes and biopsies. I wasn’t as eager… The final decision, though, was that I would have a capsule endoscopy. This is a little camera pill that I am supposed to swallow and it will take pictures as it goes through my system. This is a much better alternative to having a scope shoved up or down various openings.
Overall, the GI doctor was incredible. He spent around 2 hours with me and made sure to let me know that he was available if I need anything or if my symptoms start to get worse again. He also recommended that I go to the genetics clinic… so maybe they actually feel like I need a geneticist?
Three doctors down, two more to go. I am a little curious to see how the geneticist will handle my having a very rare genetic disease (I’m also curious to know how many doctors I will see at that appointment). It is definitely nice to be taken seriously now, but I wish that I didn’t have to have this horrible disease in order for me to be taken seriously.
I guess we can’t have everything huh?
In other news: I have successfully completed my first two core classes for my PhD degree! Ironically, the last one was a genetics class. It would have been embarrassing if I failed that one!
Chronic Musings 