How Did You Get Diagnosed and How Long Did It Take?

[jen-cueva]

I was fortunate because I was diagnosed within months, not years. I was also first diagnosed with asthma. Later that year I ended up in the ER and had an echo and right heart cath to give me the definite diagnosis.

Great question, @colleensteele, since I know many PHriends who were diagnosed using Echo and still have never had a heart cath.

[Tracey]

Hi Everyone,

I guess my diagnosis was almost by accident. When I think back now the signs were there for a long time but totally misunderstood.

As you know I come from a 14 year background with lupus so I am so accustomed to feeling ill that its normal for me. For me it’s a good day if I can get out of bed without wanting to cry.

I think it’s just too easy for the medical professionals to say “oh it’s the lupus” everytime a new symptom appears. I have had a whole team of doctors for years including a cardiologist that I have been seeing for over 11 years.

I have been suffering with shortness of breath for a few years and kept getting told that it was the lupus and if I lost weight it would be better. I lost 30kgs and it didn’t get better.

In December 2018 I broke out in the most painful, debilitating sores on the right shoulder and down my back and my lips looked and felt like they have been ironed. I was told at that time by the GP that I had shingles and it would take time to heal, and put me on meds. I went through 8 rounds of antivirals (not covered by health insurance) before I decided it was time to travel to Johannesburg to see my rheumatologist. Although jhb is only a 2.5 hour drive from my home, and I lived there for 30 years, I avoid the place like COVID19.

He then referred me to a dermatologist who did several biopsies the result of which showed that I either had Lupus ( which we know) or Dermatomyocitis, also an autoimmune disease but this one attacks the muscles. I was told that it didnt really make a difference which one was causing the sores because the treatment would be the same. But to me it made a big difference because it meant that a whole different system could now be at risk. I asked for muscle biopsies to confirm diagnosis but was declined.

Time went on and the rash persisted and so did the shortness of breath, so I decided to go see my cardio because I was concerned that if I now had a disease affecting my muscles then surely my heart would be affected. I told him everything (bear in mind I’d been seeing him for 11 years for tachycardia) and he told me it was highly unlikely that I’d have dermatomyocitis but he did an echo anyway. During the echo he said gosh, I can’t believe I never notice this before but you have mitral valve stenosis surely as a result of childhood rheumatic fever. And then went on to joke that I should report him to the medical council for missing that. Again I brought up the shortness of breath and was told to lose more weight. Really? I’d already lost a third of my total weight. Anyway I left his rooms feeling fine and not in the least bit concerned since he’d told me I had nothing to worry about.

The sores on my shoulders, back and lips continued and my rheumatologist decided that I was having a flare and we should bring out the big guns. One of the treatments for Lupus is to use a type of chemotherapy infusion to suppress the immune system when you’re having a bad flare – this was in October 2019.

The shortness of breath continued and I was concerned because I was sure it couldn’t still be my weight and I was a heavy smoker. Since I was going to be in jhb for treatment I got a referral to a pulmonologist who diagnosed bronchiolitis obliterans (a type of interstatial lung disease) caused by the lupus. I wasn’t particularly phased and just relieved that I hadn’t caused horrendous damage through my years of smoking

The next day I was admitted into the hospital’s day ward for my infusion and a friend went with me to keep me company. The infusion starts out slowly and then the rate is increased every 45 mins or so as tolerated. My friend kept saying to me, you’re looking worse and worse with each minute but I just laughed at her. Then it was time for an infusion rate change and the nurse checked my O2 sats which were at 90 and didn’t mean alot to me. The nurse phoned the doctor who told her to continue with the infusion. She moved me into a private room and monitored me closely. Pretty quickly my sats fell to 85, I was on oxygen and in serious trouble.

The nurse phoned the doctor who refused to come to the ward and insisted that I went to his rooms a block over!! When I got there he said he was on his way out but he couldn’t send me home like I was so told me he’d contact the pulmonologist. He wanted to admit me and was at a different hospital. Neither ky friend or I had our cars with us because of bad parking, so we had to get an Uber all the while with me not being able to breath.

The pulmonologist saw me as soon as I arrived and to tell you the truth I’m not even sure what he gave me in the IV at that point, and he ran a gazillion tests. The next morning he told me that he wanted me to see a different cardio who did an exho and was absolutely astonished by the extent of the mitral stenosis and PH. Everything was explained to me and I was told the motral valve defect was causing the PH but the pressure was at 90 and too dangerous to attempt to repair the mitral valve. I was in hospital for 10 days and put on Revatio to start.

Only 3 weeks later in November I was rushed back to hospital in jhb this time to be told I was in right heart failure. At the point the cardio did an angiogram and right heart catheterization and confirmed that the PH is severe and somehow we need to get that down. Decenber passes rather uneventfully.

On 7 Jan 2020 a friend asked me if he could borrow my car to take his daughter back to jhb. When he arrived to collect the car he took one look at me and said, no argument you’re coming with us.

By the time we got to the hospital in Johannesburg, I was all but uncocious. I remember so little about the ER only shouting ar the doc for mistaking my friend for my husband. I was in full respiratory, heart and kidney failure and sent to ICU for 10 days.

I have been hospitalized 7 times between October and now so it’s been really difficult to get onto an even footing. But this time I’ve stayed out of hospital for 3 weeks so let’s keep on trucking.

All of this has been extremely traumatizing for me (especially having t to leave my dogs at home – I kid you not) and the seemingly lacking a way forward is distressing for me. I guess we’ve been so busy trying to keep me alive we haven’t had time. But we do know the motral valve has contracted and PH on echo is higher. Docs want another right cardiac cath to confirm.

Since my last admiasion I have been on oxygen 24/7 and still get breathless just getting im and out of bed. I am used to fatigue from lupus but this is just a whole nothr level.

Hopefully on the 30th we’ll come up with a plan of action..

Thanks for reading this I know it takes time. It’s late now in SA and time for bed.

[Colleen]

@traceyaustralianmigration-co-za you have been through so much! I’m sorry the Lupus distracted the doctors from believing anything else could be wrong. That is so frustrating. My son had a similar experience although not quite as traumatic as yours. He was diagnosed with Mitral Valve Prolapse and Long QT Syndrome and misdiagnosed with asthma. For years any symptoms he had were contributed to this. Early on all that was seen on echo was an elongated trunk but we were told it’s not an uncommon thing to see. Fast forward 2 years when he got worse and suddenly his echo showed an enlarged heart. His pediatrician was the one who was concerned that it was PH, which was hard to believe because the Long QT is rare as well. A cath finally proved he definitely had PH.

I’m familiar with bronchiolitis obliterans. My son received a heart and double lung transplant and bronchiolitis obliterans has contributed to his slow rejection. A few years ago he received months of an aggressive treatment called photopheresis, more commonly used in cancer patients. It slowed the progression of the bronchiolitis obliterans and he has remained stable for 3 years now. I don’t know if it’s ever been used on PH patients. He no longer had PH after transplant.

I totally understand how leaving your dogs at home traumatized you. Fur babies are like family and more than that, they are so therapeutic. I bet you missed the comfort that they can provide.

Please keep us up to date on how you are doing and ask questions any time!

[jen-cueva]

Oh @traceyaustralianmigration-co-za, you have been through the wringer with your health and the doctors. I am sorry to hear how difficult this has been. It is too bad that they continued to contribute things to lupus and your weight, etc.

I am hopeful that once you see them on the 30th that they will look at the treatment and see if they want to start you on IV and combination therapy. I just hate that you have struggled so many years with this, and the breathing continues to get worse. The heart cath is the best to determine the level of PH and treatment plans.

Keeping my fingers and toes crossed that you will stay out of the hospital and on the best treatment soon.

I understand how difficult leaving your furbabies were. They are like family. Please know that we are here and hope to support you with any questions that you may have.