Someone in my family has been diagnosed with this rare condition. We've scheduled an appointment with the only doc in Htown that treats it, but appointment isn't until May. Would appreciate any info that any docs have to share about it; I realize it's a longshot.

My sister was diagnosed with the same condition about 10 years ago. It has impacted her lungs and she has adult onset asthma and a prone to lung infections. She is on infusion treatments which seem to help. Overall I would say she is healthy and living a good life. Hope this helps.

Rhodie88 said:

---

My sister was diagnosed with the same condition about 10 years ago. It has impacted her lungs and she has adult onset asthma and a prone to lung infections. She is on infusion treatments which seem to help. Overall I would say she is healthy and living a good life. Hope this helps.

---

Thanks so much. Do you mind me asking around what age the symptoms started?

Mid to late 40's is when the asthma started but she was always prone to lung infections and pneumonia. The way she found out was through genetic testing. She has lost some lung capacity but that seems to have stabilized.

Rhodie88 said:

---

Mid to late 40's is when the asthma started but she was always prone to lung infections and pneumonia. The way she found out was through genetic testing. She has lost some lung capacity but that seems to have stabilized.

---

Can't thank you enough for this info. God bless you and your sister.

I was diagnosed with the mildest form of it about 10 years ago - early 40s. At the time was traveling internationally a lot - every trip to Asia I would come back and develop walking pneumonia - dealt with pertussis every year for a while. Like you mention, took them a long time to figure it out as it's not something that comes up often.

For several years I was on 2 inhalers. Doc isn't entirely sure why but I stopped having the challenges with pneumonia and pertussis a few years ago. Currently not on any meds and doing alright. Recently my liver tests have returned to normal for first time in 10+ years - usually watch these closely as a link to the lung issues and potential liver disease. Just monitoring now as guessing it may intensify again at some point but glad to not be hacking for 4 months straight anymore. Don't really have a cause/effect explanation for why it subsided.

Hope things go well. I was super freaked out when I first got the diagnosis - scared the crap out of me some of the long term possibilities. But for me it was quite manageable once I got the inhalers and I caught a break somehow with it being 'dormant' for a few years now.

I replied on the general board as well.

Essentially, get with a specialist very familiar with the disease and the conditions that can follow.

It's rare enough to where most of the common docs on the frontline (myself included as an ER doc), haven't seen it enough to be really well versed in it.

I really appreciate the responses. We are finding it's a real piece of work to get in front of the right doctors as mentioned, but the liver specialist is first. For now that's where our biggest fears lie.

Liver disease is significant and on the rise.

I tell pre med students all the time to consider going into Hepatology.

Going to need a lot of them in the very near future.
Not nearly enough as is.