This will be yet another long post about my health. I guess this is what happens when you hit your 50s.
This summer I was diagnosed with Common Variable Immunodeficiency (CVID), an immune disorder where my B cells have basically stopped producing antibodies, which leads to frequent bacterial infections (particularly sinus infections and pneumonia) as well as the potential for numerous other complications. CVID is the most common primary immune deficiency, but it is still quite rare (about 1/25,000, suggesting there are maybe 250 affected people in Wisconsin, and fewer than 14,000 in the US). And it’s quite heterogeneous (hence “variable”): many people with CVID just have increased respiratory infections, others also have frequent gastrointestinal infections, and many others also have a variety of complications such as lung disease and autoimmune problems.
It seems odd to be diagnosed with an immune deficiency in my late middle-age, but it’s not uncommon for this disease: typical age of diagnosis is 20-40, and there is generally a very long time from the onset of symptoms to diagnosis (like 5-10 years). Onset is very hard to define: I have had frequent respiratory infections (I basically would get sick every time I travelled to a conference), but when did that begin? (I had pneumonia back in 1998, at age 29; was that the start?)
diagnosis
My diagnosis came by happenstance. A year ago, routine blood work showed increased liver enzymes (AST/SGOT and ALT/SGPT), and so I was referred to a hepatologist. An ultrasound of the liver showed “increased echogenicity”, so they did a fancier ultrasound (“elastography” — like an ultrasound but with a bunch of shaking) which was normal. The hepatologist suggested vitamin E supplements and repeating the blood work in 4 months.
In the follow-up blood work, the liver enzymes had dipped back into the normal range, but she included an IgG measurement, I think looking to see if it was elevated (which might indicate an infection) but actually it was below the detection limit.
That seemed kind of crazy to me; I figured it must be a lab error. But they retested it, and also measured IgA and IgM, and in the second measurement IgG was again below the detection limit and IgA was also extremely low. (IgM was normal.)
Interestingly my blood protein level was low, and it has been low ever since they first measured it, back in 2020, despite the fact that my diet is quite high in protein. It turns out that it’s low by about the amount of IgG that I should have but am missing.
And so I was referred to an immunologist.
sinus and ear infection
While all this was happening, I’d taken a plane trip to Portland, Oregon, where I caught some sort of respiratory virus (apparently not COVID), and ended up being sick for the entire month of July, including a bad sinus and ear infection that resulted in a ruptured ear drum. It finally cleared up after 3 weeks of antibiotics. A trip to ontolaryngology showed the ear drum had healed, but I had reduced hearing in that ear, which they’ll be rechecking in six months.
Before the ruptured ear drum, I had felt like my lungs were affected and so went to urgent care to ask about pneumonia. They did a chest xray but it looked fine.
I’ve had long history of sinus infections which, as I understand now, I’ve poorly managed. When I get sick and my sinuses get involved, I tend to suffer for quite a long time, and often my ears get plugged. I really should have been seeking medical help, rather than just suffering.
antibody infusions
Back to the immunologist visit. He said with the low IgG level, I was at high risk of dangerous bacterial infections, including sepsis, and so they should immediately start me on immunoglobulin replacement therapy: either intravenously (IVIG) or subcutaneously (SCIG), and he recommended the latter. IVIG is generally done monthly in a clinic; it can take about 6 hours each time, and there is a good chance of side effects. SCIG is generally done weekly at home, taking maybe 1.5-2 hours, and generally with fewer side effects. Also, with IVIG you get a bunch of immunoglobulin monthly, so you get a big spike in your blood IgG level which then gradually disappears until you get your next infusion. With SCIG your blood IgG levels will be more stable, as when you inject it under your skin it is relatively slowly absorbed into your bloodstream over a couple of days, plus you are topping it off every week.
It took a couple of weeks for them to assemble the paperwork, but then the insurance company approved it essentially immediately (despite the fact that the cost of this therapy is like $100k per year, and I’ll be doing it for the rest of my life. Don’t lose your health insurance!) There were some initial wrinkles in the insurance reimbursement, but I think I’ll skip the details. (I had to pay out-of-pocket for the initial nurses visits where I was trained to do the SCIG, including paying for their 4-hour commutes. I live in the second-largest city in the state, but somehow they need to bring in nurses from way over in Appleton?)
I’m now at like week 16 of the SCIG infusions, and they’ve being going great. I had watched all the available videos on youtube, and I was a bit concerned about having to poke myself with needles. But that turned out to be a non-issue; the needles are tiny and I don’t much feel them. I take 12g IgG, which is 60 ml of liquid (~1/4 cup), using three needles into my upper abdomen and with a little wind-up pump. Its taking about an hour and 40 minutes (which is a bit longer than when I first started). I got a bit of a red rash the first few times, but now I don’t even get that.
ct scans
Back to the immunologist: he ordered a ton of blood work, including some fancy flow cytometry, and I was vaccinated for typhoid, to test my vaccine response. I did show a normal response to the typhoid vaccine, and I also had low but protective tetanus antibodies, but though I’d just gotten the MMR vaccine, I had antibodies for rubella but not for measles and mumps. And the flow cytometry showed reduced “switched memory B cells”. With those results, the CVID diagnosis was confirmed.
He also sent me to get a chest CT scan, as lung disease is among the worst problems of CVID. The CT scan showed lung nodules and an enlarged spleen. Because of my recent respiratory illness, the pulmonologist thought the lung nodules might be an infection, so we did a brochoscopy (sort of like a colonoscopy, but at the other end) to get a sample to check. But there was no evidence of any infection.
A repeat of the CT scan 3 months later still showed nodules: some had disappeared, some had stayed the same, and there were some new ones. The thought is that they are granulomas: clumps of white blood cells. While they could do a biopsy to check, they aren’t too accessible, and they wouldn’t be treating them anyway. So repeat the CT scan in six months. Also, they’ll do some lung function tests next week, though the pulmonologist expects them to be normal.
That’s likely to be my life: frequent tests, occasional concerning but no I shouldn’t be concerned results, and a lot of watching and waiting.
immune deficiency foundation
There’s been a lot to learn in the last four months. The Immune Deficiency Foundation (IDF) has been a great source of information. They have a terrific patient and family handbook. And there’s a monthly online CVID support group that has been super helpful: great to get to know ~25 people with the same rare disease, many of which have been dealing with this for decades.
The websites UpToDate (to which I have access through the university) and StatPearls have also been really helpful.
N95 masks and other valuable tools
If I’ve learned anything from the COVID pandemic, it’s that we can generally avoid seasonal respiratory infections, and masking is a key and very effective tool for that. (And not surgical masks, poorly worn, which is what I tend to see in UW Health staff, but well-fitting, proper N95 masks like the 3M Aura or KN95 masks like the Powecom.) I’ve been continuing to mask in public, and I generally still avoid in-person events. Now I have even stronger reasons to do so. I’ve had COVID twice, and the experiences were quite bad. I didn’t get that sick, but I was sick for a very long time, and being isolated in my basement for 3 weeks is really disruptive. I don’t want that to happen again.
Air ventilation and filtering are also important, and measuring air ventilation through CO2 monitors: expensive ones, hand-made ones, and tiny portable ones from Australia.
Also, of course, vaccination. It turns out that my own immune system is not particularly responsive to vaccines, and so it’s even more important that the people I’m around are vaccinated. For example, I got the measles vaccine as an infant, and again last year, but I still show no antibodies to measles. My immunoglobulin infusions should help, but I’m still at much greater risk of infection than others, and so I depend on community vaccination. Vaccinating yourself is not just about protecting yourself from infection, it’s also about helping to protect people like me.
future
It’s been an eventful year for me, health-wise. A year ago, I had a cardiac ablation which solved my PVCs, and earlier this year I had carpal tunnel release surgery on each wrist (the right in April and the left in June).
All that is fixed, but now I’ve got CVID, or more precisely now it’s recognized that I have CVID. My future will include weekly antibody infusions, twice daily sinus rinses, and lots of regular blood work and other diagnostic tests, and visits to all the specialists. All that for the rest of my life (say 30 years).
Don’t lose your health insurance! My health care costs for 2024-2025 were probably over $250k, and that’s how it’s going to be for me, from now on.
Also, keep up the masking and vaccination, and assessment and improvement of air quality: not just for yourself, but also for people like me.