Heading Back from Mayo

The unexpected turn of staying an extra 2 days was a surprise. Dr. Joshi was well worth the visit in the first place. I still can’t believe she got me in front of everyone so quickly.

For starters before I go into it, when we rebook our room at the Kahler, we moved to a different floor. The first hotel room I didn’t feel “right”. Something felt off. As we got into our second room, that all too familiar feeling of being covered in fire ants came back. As we sat in the hotel room, I would wake up feeling nauseated like I used to. It’s just hard to describe.

I told Anies. She told me that she could smell something weird in the first hotel room, much more apparent in the second. As my son was meeting us Tuesday for dinner, we were walking back and as we walked into one of the entrance doors I noticed this small science experiment going on in the room adjacent to us

There is absolutely no words for this. I cannot believe it was THIS BAD. Clearly it’s been there an awful long time. This went across both windows, and was growing from the bottom wooden portion of the window. Just seeing it made my skin crawl.

I immediately made the call to move rooms. So we showed the staff, and I explained the situation. The gave us a room far away from there. It’s funny. It’s my superpower. I can tell you 5 minutes after I enter a room if there is mold. Or mold near. Yes, this was growing in the room adjacent to ours, but Jesus. Think of if this was our room. God. I don’t even want to think about it.

We moved when we got back from dinner on Tuesday. The room that had the mold in the window had a “Do Not Disturb” sign on the door as we moved. The next morning, they already removed half of it from one window, but I can guarantee you what happened. Maintenance guy hopefully gloved up and just scooped it off the window. Which is only making the problem worse.

Anyway

ENT was Tuesday afternoon. Visit went ok. Spent a total of 2 hours in their office. Got an endoscopy. Things did look somewhat better. Their cameras seemed much better than my other ENT’s office. The reassuring thing, no abscesses were visualized. I felt a sigh of relief. I guess you can say I’m quite paranoid with my sinuses now. I’ve lost the ability to taste / smell anything. The Dr came in shortly after. We talked a bit about what was going on, what I’m feeling. She did say things look clear, however, with what I was describing, she agreed to itraconazole sinus rinses. Which is completely fine with me. It was just that with what’s been going on with Hepworth’s office, it was nice to get a next day appointment instead of waiting 5 months to be seen.

Today was the bigger day, Infectious Disease. My appointment was squeezed into the first appointment of the day. We both were up by 6:30am to make the 7:45am appointment. As we walked over, the playback happened again in my head about what happened last time. But I shut it off. I wanted to go into this with a new Dr. new mindset.

The experience was the same. You show facts. Talk labs. Showed him the pus out of my mouth. My coated tongue. The discussion immediately snapped to am I drinking enough water. I knew I was in trouble. But Aggie spoke up. It was nice to be 2 v 1 vs it being just me. All I was asking was for a small supply of posaconazole until Hepworth could get his office together since he’s maintaining it now. He made several arguments against its use. However, when I brought up the fact going off Posaconazole spiked my WBC to 18, going back on dropped it down to 14 within 3 weeks. That means it’s having a positive effect. Yes I do feel better while on it. I stood my ground. He made more arguments about gaining resistance (complete bullshit). I still stood my ground. I just kept throwing the same medical facts at him over and over.

At one point I asked him straight up to explain why going off Posaconazole spiked my WBC to 18. This caught him off his normal routine. “I can’t explain that”. So then I asked, then explain why my WBC is dropping to 14 (now 12). “I can’t explain that either”.

So then I went for the obvious statement of “Clearly antifungals are working. They when off my WBC goes up, when I go back on them, goes down. I also explained to him about the letter I from infectious disease that I am to be on posaconazole for the rest of my life. Which of course he was totally against.

Unfortunately my relationship with Dr Kaufman took a shit due to her office manager. But she’s retired now anyway. You couldn’t pay me to be seen by anyone else at that practice.

Which is where our conversation went next. “Why not UC Health?” I explained what happened. I told him it’s near impossible to find an infectious disease doctor willing to work with me. “Why is that?” He asked. “Because they believe my CVID is made up”. Although I have 1000’s of labs / illnesses to support it. Today we also learned that genetic test I took, one of the mutations is known to be found in patients with CVID (more on this later).

This infectious disease Dr just felt like he didn’t want to help. Trying to get out of it. At the end I broke home. He gave me Posaconazole and Nystatin oral liquid. I told him, “Look, you need to understand that people keep forgetting that CVID and my genetic predispositions have put me here. I didn’t drive 800 miles for no reason.” Which I think is what finally “won him over”.

After that he backed off finally and looked at this from a support perspective. I told him that this is a short term thing. Long term, this needs to be addressed by my ENT at home. I explained that once his practice is established I’ll be ok, I just need something to bridge the gap until then. He then agreed to help, and sent in the two prescriptions. I told him thank you. I said that “You need to understand I have to rely upon antifungals because my body doesn’t do anything about it, I promise you this is the right move”.

He then went on to talk about new antifungals in the pipeline. which was an interesting turn, you just spent an hour shaming me for taking posaconazole Then tell me about new ones.

It’s fine. I got what I needed out of him. It’s just sad I have to justify it when it’s already been proven to work. I have a letter clearly stating I need to stay on it for the rest of my life.

After that appointment we returned to the hotel. Packed up the Jeep, and checked out of the hotel. I was just glad that infectious disease caved. Most of that felt unnecessary. As we walked back over to Mayo, we picked up the Posaconazole and Nystatin from the pharmacy, and headed upstairs for the final appointment, genetics.

Before we went there, I briefly stopped at the bottom floor where my smoking cessation appointment was going to be at 3:45pm. Honestly we can just telehealth that. No need for in-person. We do need to get on the road by 3. I don’t want to be driving all night.

After rescheduling we waited an hour. I was supposed to get a phone call at 1:30pm from this assistant which never happened. At 1:40pm we walked over and checked into the appointment. I told the appointment desk that I was waiting for the call but never happened.

The problem was this, phone call is 1:30pm, appointment was 1:45pm with the geneticist. At around 1.40pm I got a message from the portal saying I missed his call. However, no missed calls or voicemail. Kid, you forgot to call me. That’s what happened.

So I told Aggie to stay at the door and stall them while I call this guy back. Most of the questions he asked me, I already had done from the previous visit with genetics. Wasn’t sure why I was jumping through these same hoops again.

I got off the phone, and ran over to Aggie where she was stalling the nurse, and we got into the room. We waited a short bit, and he came in. Really nice guy. After going through the Spanish Inquisition this morning, I didn’t feel like I needed to repeat it again with this guy.

We went over my previous test where I had tested positive with ATM mutations and that I am a carrier of it. The problem though, is even though you are carrier, there is a high probability that you will also have certain issues related to the ATM mutation. Which in my case, it’s the immunodeficiency. The deletions that ATM does over time.

One thing as we went through the other result was “unknown” 3 years ago. When my ATM status changed from “Likely Pathogenic” to “Pathogenic”, Invitae alao updated this other variant. It’s known to be found in individuals with CVID. I either missed that, or they updated it without communicating it. Well that’s ok, it’s just good to know. I already knew I had CVID, I’ve had it all my life, they just caught it way too late, which unfortunately, is quite typical.

As we spoke about what our plans with Dr. Joshi was, full genome sequencing. This test is extensive. And when I say extensive, results won’t come back for at least 4-6 months. He explained why it was different, what to expect, etc.

As we walked out I mentioned/asked if Dr. Schemmenti was in. She was so great last time it would’ve just been nice to meet her. As I was getting my November consultation where I sign all the consents and whatnot, Dr Schemmenti came around the corner and gave me a huge hug. Gave her an update of what happened. She was happy that I was getting this done. Originally we wanted to do this test but insurance was being difficult. Not this time. Now we have all the leverage. Yes, it’s an expensive test. But it’s quite clear that my issues all stem from poor genetics.

By 2:30pm we were back at the Jeep and currently on the road back. I messaged Dr. Joshi about going on other medications to shut off my inflammation pathways, she did respond with that there are a few tests pending. Once we get the results of those, that will ultimately decide which way we go with this.

I’m just happy I got help. This trip was well worth the investment of our time.