Jennifer’s Family Odyssey
I was diagnosed with Carney Complex 5 years after my first surgery (1994). My mom‘s medical history and her relentless efforts lead us to the diagnosis of Carney Complex. In retrospect, she had many more signs and symptoms – as did I – but not much was know of the disease that was causing our symptoms. Instead I want to focus on the point in time where it felt like we were this happy family, who previously were flung into the mighty and merciless ocean of emergency surgeries and hospital appointments. Trying to manouver the tricky waters, and the ‘bad’ news just kept coming.
Already a patient
I was already under close surveillance at the local children‘s hospital because I had had a rare and benign liver tumour (1994/ Age 9). This was followed by a rare and incurable type of liver cancer five years later (diagnosed 1999/ Age 14) – right before the diagnosis of Carney Complex. To date I have had no reoccurence of the rare liver cancer. For which I consider myself extremely fortunate. The surgeon had told my parents, he did all he could but couldn’t guarantee it was enough. I am sure you can imagine the shock my parents were under. He had to remove 2/3 of my liver including the gall bladder and it was not clear if I would make it.
First cardiac myxoma
Inbetween my two liver surgeries, my mom developed her first cardiac myxoma (1996/ Age 45). Needing emergency open heart surgery (OHS) to remove it. The attending surgeon did a double take when she first met my mom. She was there to discuss the up and coming surgical proceedure and was surprised to see my mom‘s ‘freckles’. The attending surgeon also let her know that they thought it might be something called Carney Complex.
After my mom‘s OHS her general practitioner (GP) was concerned that she might be treated as a ‘guinea pig’ if she saw a cardiologist at the university hospital. For this reason he referred her to a private one. He did however previously ask her to keep him updated on new publications.
Not everyone had access to the information
You should know that back in 1996 people couldn‘t just google for medical research publications as you can today. The internet and computers had not yet established themselves but slowly were starting to be introduced into the family home. My mom worked in a research lab for a pharmaceutical company. This let her have access to computers, the internet and hence the newest medical research publications.
At some point, she came across an article by Dr. J. Aiden Carney that made mention of a patient who had presented with an ear canal tumour. That grabbed her attention because she had such a growth removed in her 20‘s (1971).
„After what had happened to me I started thinking about the tumour I had in my left ear, that was taken out while I was attending university. All I could find out about it was that it had been a benign tumour (fibroepithelial polyp). I was also really concerned about Jenny and her liver tumour. I wondered if there might be a connection. When I started searching for tumours of the ear canal I came across an earlier report by Dr. Carney where he mentioned a patient with a similar finding. That pointed me towards CNC again.“
Kathie
I remember a time where she would come home very late from work, and my dad not being happy about that. Only much later did I learn that she would stay after finishing at work to scour the web for more information on CNC. I also remember her taking large stacks of paper with us on skiing vacation. While I went out to my skiing lessons she would stay in the rented chalet and highlight passages of the printouts she‘d brought along. Making individual piles for each of our doctors. But when she approached my specialists at the children’s hospital with the suspicion of CNC, sharing her concerns of her and my medical history, they didn‘t think much of it. One specialist took the paperwork she‘d worked so hard on and passed it on to an intern to read through and summerize it for him.
Connections weren’t made
I shared my mom‘s pigmentation (hers was more pronounced than mine) but showed no other symptoms indicative of CNC. Her having had a cardiac myxoma didn‘t seem enough for them to think there was a connection either. I want to believe that at the time there really wasn‘t much information available; in the US they were just getting started with cohort studies. The connection of my liver tumour and cancer to CNC were not made until much later – 2004 and reconfirmed again in 2018. Despite not having my specialist‘s attention (back in 1996) and being brushed off, my mom fought like a lioness to try and convince them in the years to come.
„I felt like I was being treated like a ‘hysterical mom‘ or a hypocondriac and just written off. Both my husband’s and my families were in the US. What kept me pushing was the fact that my GP and Jenny’s pediatrician eventually said they too thought things were very suggestive of Carney Complex. It was good to know other doctors backed my suspicion, but I really needed the specialists to hear me. I was fortunate to be working in a research lab with a very understanding doctor. My husband, who was also working full time, did not have the same liberty. So I was able and made it a priority to always be there when Jenny had to be screened for her liver. Ensuring I could talk to her specialist and try to keep them updated.“
Kathie
She received help from one of her siblings in the US, who was a laywer specializing in medical advocacy. This sibling mentioned about there being clinical studies at the NIH. That‘s when she reached out to Dr. Constantine Stratakis, who was the head investigator. The more information she collected and shared with her GP and my specialists, the more they were able to evolve from their initial positions.
„My GP was always very concerned with protecting us from getting exposed to too much ‘poking and prodding’ while trying to manage the delicate balance of ensuring we got the medical care we needed.“
Kathie
Getting the diagnosis
When I went in to remove the liver cancer (1999) my specialists at the children’s hospital finally agreed to take blood samples from all of us and have them sent to Dr. Stratakis in the US to get genetically tested. Us being in Switzerland and them in the US presented some hurdles… it was a couple of months before we got the results. Genetic testing was only available in a clinical study setting back then; release forms needed to be signed for them to be able to share the information with our doctors and us, as we were outside of the US.
After the diagnosis
The 90’s were peppered with unforseen hospital visits and surgeries. Several times our lives had to come to a full stop. As soon as we thought we had managed to put out one fire, another one had already ignited unnoticed, and the next emergency surgery was needed. Trying to deal with ‘fires’ when they’ve had time to burn unnoticed, with no way to catch them early, was incredibly difficult and taxing. After receiving the diagnosis dealing with the condition still was challenging, because new information was being published while at the same time new symptoms surfaced. They just hadn’t been linked to CNC yet.
Catching things early remained difficult. We didn’t know everything we do now. Of all of my other diagnosis the only ones that were caught early were my caridac myxomas and my thyroid cancer, and thank goodness for that. In Carney Complex 57% of deaths are due to cardiac issues caused by myxomas. The earlier you can catch the growths the better. After everything else that followed from when we got our diagnosis of Carney Complex, I can’t believe how lucky we’ve been.
I turn 36 this year and my mom celebrated her 70th birthday in spring.
Had it not been for
- my mom’s cardiac myxoma, along with her freckling.
- the brief pre-surgery meeting with the attending surgeon pointing out it might be CNC.
- the fact my mom was working in a research lab with access to the information.
- one of her sisters pointing out about Dr. Stratakis’ clinical trial, collecting families and samples.
- as well as her relentlessly fighting to get heard and the doctors changing their position.
It would have taken us much longer to get a diagnosis and connections would not have been made.
Checking if other family members show signs or symptoms suggestive of CNC can help with getting/ making a diagnosis!