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Angela’s Odyssey

My family’s Carney Complex diagnosis involved a long odyssey over many years.

Myself aged 50 and my youngest son aged 12 were diagnosed with Carney Complex (CNC) in 2011 followed a few weeks later by another of my sons aged 22. Of my 4 sons, 2 have CNC. We now know that CNC has been in our family for 5 generations affecting 10 members of our family.

Looking back

Our journey started many years before this. As a child of 8 years old I had a subcutaneous tumour removed from my arm, followed a couple of years later by another one and then in my early teens by one from my neck. At the age of 18 I had my first breast lump removed followed by another a few years later. I also had a large fast growing sub cutaneous lump removed from my groin in my 20’s. The Consultant had been surprised at the biopsy result and had told me that it showed I had the same condition as ‘The Elephant Man’ (Until 1986, it was believed he had Neurofibromatosis but it was proved by geneticists that he had Proteus Syndrome) he discharged me but said if you get any more lumps ask your GP to refer you back to me. At this point there was no such condition as Carney Complex. 

Dr Carney first made the connection between different conditions on the 24th April 1982 followed by more years of research and in 1985 these conditions were assembled into one syndrome ‘Carney Complex’. Dr Stratakis found the PRKAR1A gene in March 2000.

At the birth of my second son it was noticed that he had a ‘skin lesion’ on his chest. We were told this was very unusual and it was removed a few months later. As a young child we noticed he had a couple more dark patches appearing on his skin, these were followed by an area of depigmentation around them which then caused the pigmented lesions to disappear. The Dermotology team didn’t know what caused this. As a teenager he was found to have a growth of bone at the side of his finger and a fracture. This growth was removed but again no one knew what caused it. This was followed by the removal of a small growth on his lower eyelid.

First signs that something was really off

When my youngest son was born everything seemed fine. He sat up at a similar time to his brothers but wasn’t happy when encouraged to crawl. His 3 older brothers crawled around 6/7 months and then walked between 10 months and 12 months. Myself and then our GP became concerned when at 10 months he still wasn’t crawling, but he happily sat and played. We were referred to the hospital, and were basically told he was a ‘lazy’ baby and to put things out of his reach as this would encourage him to crawl. At 11 months he finally began to crawl. We tried to encourage him to walk but he really didn’t want too. He was seen at the hospital a number of times, if you put him into a standing position he could weight bare but after a minute would drop down to crawl. He eventually walked around 14 months old. 

Almost as soon as he could talk he complained of pain in his right leg. We saw our GP numerous times who said there was nothing wrong. But as a mum of 4 boys I knew there was something not right. At nursery and then at school he didn’t want to run or play football with his friends, he cried when we tried to teach him to ride a bike as he said it made his leg hurt. I continuously took him back to our GP who just said it’s growing pains, some children get them and others don’t.

I was employed at the school he attended, it was obvious to the teachers and support staff that Joe couldn’t/didn’t want to run around/ play football with the other children, that he struggled and would get upset in PE lessons. Outside of school we took him to swimming lessons and he swam from the age of 4 with his brothers. He was happy doing this as he wasn’t weight bearing on his leg. When he was 7 he was in a PE lesson and slipped on the balance beam and banged his right leg. A member of staff brought him to me and he was very upset, and obviously in a lot of pain. I took him home. He was in pain during the night and in the morning there was a large swollen area on his right tibia. I rang the GP surgery and took him to see the GP, I asked if she could arrange an X-ray, she said she felt there was no need but I insisted and she eventually agreed and arranged for us to go to our local hospital. We got there and he had an X-ray. We were told he had a broken leg which needed to be set in plaster, which was done and we were asked to return the following morning to see the orthopaedic Consultant. He told me that he had a partial healed fracture in his right tibia, which had been broken at least 3 weeks ago and asked why hadn’t I taken him to the hospital at that time. He told me that I didn’t care about my child, that I was a bad mother and that my child would have been in a lot of pain with this. I told him that my son had been complaining of pain in his leg in the exact area he had banged at school from being around 2 years old and that I had continuously taken him to the GP. He didn’t listen, again saying I was a bad mother. He said it was pointless keeping the plaster cast on his leg as it was now partially healed and would continue to heal and that he was to stay off school and rest it. We ended up arguing about it and he said he was discharging him back to our GP. 

He couldn’t walk on his leg and was in pain. I kept him off school for a couple of weeks until the swelling went down and the pain lessened to what he said was the normal pain.  On his return to school it was agreed that he would no longer take part in PE lessons in school. Despite regularly going back to the GP with him she still continued saying it was ‘growing pains’ and as he grew he would grow out of it.

Trying to get heard

I continued taking him to the GP because he was telling me all the time that he was in pain, his teacher was also concerned, eventually I was told by the GP that she believed I had a condition called Munchausen Syndrome by Proxy and that there was nothing wrong with him and that I was saying there was to get attention. I was really upset by this. Previous to this I had seen her regarding things with my own health which she hadn’t supported me about, wouldn’t refer me to the hospital and had told me I was a hypochondriac and there was nothing wrong with me. 

One day when he was 10 I noticed a subcutaneous lump on the back of his neck, I made an appointment with the GP who agreed to refer him to a large Children’s Hospital. He was seen there and they arranged for the lump to be removed and sent for a biopsy, by the date of the surgery 4 weeks later the lump had doubled in size. I never heard from them and presumed everything was ok. Three months later, I had a phone call asking if I could take him to the Dermotology Clinic the following morning as they had the biopsy result and would like to see him. A Consultant and two Drs saw us at the clinic. The Consultant apologised for the delay in seeing us but said it was because they couldn’t identify the tumour. They had spent a lot of time talking to other hospitals, other Consultants, taken advice from specialists and even looked through medical journals and that they had finally found out what it was (He didn’t tell me what it was).

He just said it was extremely rare. That it was only associated with 3 rare conditions,
and that one of them could affect the heart. That’s why they had asked us back as he wanted to see if he was ‘freckly’ as people who had it were ‘very freckly’.
My son has no freckles/ skin pigmentation.

He said as he isn’t ‘really freckly’ I know he won’t have this condition, and also: ‘ I’ll discharge him for now if he gets any more lumps please ask your GP to refer you back.

I know now he was talking about Carney Complex.
Because we aren’t freckly in our family he dismissed it as a diagnosis.

A few months after this, one of the staff at school came to me to say that a supply teacher despite being told that my son wasn’t to take part in PE had made him spend the PE lesson going up and down the field collecting balls and that he was really upset and in pain. I drove him straight to our GP surgery and insisted on seeing the GP. I was told there were no appointments and I said that I wasn’t leaving until she saw him. Eventually she came out of her office and agreed to see him. She still after all the years said it was growing pains. I told her I didn’t agree, that I had 3 other sons and I knew there was something wrong. I refused to leave her surgery until she did a referral to a Paediatric Orthopaedic Consultant and eventually she agreed but said there was nothing wrong and that the Consultant would tell me the same thing. 

Same old or a new set of eyes?

Going in I was worried it would be the same Consultant who previously had said he had a partially healed fracture. We went to the appt and luckily the Consultant was absent, and what I found out later to be a renowned Paediatric Orthopaedic Consultant from a large specialist Childrens Hospital was covering his clinic. I explained about how I felt things hadn’t been right from him being small, the late crawling, walking and then from as soon as he could talk saying his leg hurt, about not taking part in PE due to pain, not playing with friends, about my GP saying I had Munchausen Syndrome by Proxy and about what happened when he was 7 and the attitude of the Consultant I saw then and he really listened to me. 


He tried to access the previous X-rays from when he was 7. He gently examined his leg and said he could feel what felt like a raised bone area on his right tibia where he complained of the pain.  He said “I would like to apologise to you on behalf of this hospital trust, I don’t think he’s ever had a broken leg, I think it’s something else and I’m sending you for an X-ray and we will take it from there.” He then asked about any other medical conditions he had and also asked about my medical history. I told him about the lump he had removed. I told him about me having numerous tumours removed and he asked if I knew what they were. I said no. He also asked re Cafe au lait patches and I said I had some.

We went down to the X-ray dept and then returned to the clinic. On our return we were told to go into the Consultants office, as we walked in I realised 4 other medical staff were with him, I apologised thinking I shouldn’t have gone in. But he said ‘Come in, I hope you don’t mind but I’ve asked some colleges to join us. I could see my son was worried and I wasn’t happy about it but felt It was too late to say ‘no’ as they were already there. (I did complain about this afterwards). He then again apologised for my sons previous diagnosis of a ‘broken leg with a part healing fracture’ when he was age 7. He said that my son had never had a broken leg, that he had a tumour in his right tibia which had caused a non healing fracture as the bone around it was unhealthy and therefor could never heal. He then went on to say that he thought that from what I had said about our medical histories that he felt we both had NF1 ( Neurofibromatosis 1) in my mind this took me back to the conversation I had with the Consultant who had said I had it when mentioning the ‘Elephant Man’. (We have been told since by my sons adult Orthopaedic Consultant that the tumours been there since birth and that’s why he was late crawling and walking)

Light at the end of the tunnel?

He arranged for us to attend his clinic in the specialist Children’s Hospital where he was normally based in the next few days and said he would contact an NF1 specialist. Once home I researched NF1 on the internet and the more I read the more I disagreed with his diagnosis. 

When we went back he again mentioned referring us to an NF1 Specialist, I told him that I’d done a lot of research over the last few days and didn’t agree with his diagnosis. He felt that his diagnosis was right ( as I said later to him, he made that diagnosis on his medical knowledge. How could he make a diagnosis of an extremely rare condition that he had no knowledge of) he said he would refer us to a Geneticist for genetic testing to confirm NF1. 

A few weeks later we were seen by a Geneticist. After talking to me and my husband and my son about our medical histories and me saying that after researching I didn’t think we had NF1, he also said he didn’t think we had. But he did feel that myself and my son had a shared genetic condition. We then spent time with him going into more detail of our medical history. I mentioned about the lump being removed from my sons neck. He said he would get his team to contact the Children’s Hospital and ask for his notes and find out what the tumour was.

We returned to the genetics clinic the following week. He said that the tumour was called a Myxoma and that it was very rare and associated with 3 rare conditions, one which was extremely rare and he didn’t know anything about it. He arranged for a blood test and arranged to test us for the extremely rare one first so he could tick it off the list. I was shocked at what he’d said and couldn’t even remember what he said the one he’d tested for was called. 

Finally an answer!

He rang me a couple of weeks later and said ‘The result has come back Positive for you both, you have Carney Complex’. I made an appointment with my GP. I told her about our diagnosis and she cried, apologising profusely for not listening to me over the years regarding both mine and my sons symptoms. 

I understand why it took 11 years to get a diagnosis for my son it was due to the fact that because Carney Complex is so rare that it’s not taught about in medical schools and only a very few medical personnel have heard about it. That’s why it’s important that we spread the word to both the medical profession and members of the public about Carney Complex. 

From my first concerns about my sons crawling/ walking it took us 11 years to get a diagnosis.