Alcapa Syndrome

[uphill]

Hi, I'm new here. Does anyone out there have Alcapa Syndrome, or had it corrected by surgery? I was diagnosed with this congenital defect in 2015 and have had 2 lots of open heart surgery to improve my prognosis. Alcapa Syndrome is SUCH a rare condition, it feels quite lonely being unable to share my experiences with another person who really understands the challenges. Thanks.

[Midgeymoo17]

I am afraid I do not have Alcapa but I have a congenital heart defect (not a particularly rare one) and I know what you mean about being lonely as I have a number of other congenital conditions that are fairly rare.

[uphill in reply to Midgeymoo17]

Hi, Thanks for replying. I didn't really think it possible that anyone on the forum would have Alcapa, but I keep hoping. Until 2015 my condition was undiagnosed, I just had a group of cardiac problems, but we didn't know the true cause. When I had an angiogram in 2015 everything became clear. They kept calling people in to look at the screens, until there were about 25 of us in the room and everyone was getting pretty excited and whispering the word 'Alcapa'. They were all amazed that I had survived and was living a reasonably normal life. The only unsurprised person in the room was me.

When I was a child, my parents and I were told that the blood vessels in my heart were 'incorrectly connected' (Alcapa..) but there was nothing that could done at that time. All my adult life I have been repeating this to disbelieving consultants who were adamant that I could not have this problem as I would not be able to function in the way I always have. Facing this serious problem alone as a teenager was TOUGH. I remember sitting in a cardiac clinic waiting room full of guys in their 50s and 60s, thinking - What am I doing here?

So, what about yourself? How are you and what are the challenges you face in your life? Hope things are going well.

[Midgeymoo17 in reply to uphill]

I totally get the bit about sitting in a waiting room of people in their 50's and 60's. I was born with Tetralogy of Fallot's repaired at 3 months. My Pulmonary Valve is leaking severely and my right ventricle enlarged so I am waiting for open heart operation to replace it. I had my pre- op on the 8th of June. So yeah when ever I go to a cardiac clinic or get admitted to hospital I look around and it like everyone is 20/ 30 years older and i stick out like a sore thumb.

Really not surprised lots of people came to look at your angiogram. This is very normal behaviour when it comes to congenital heart defects. I was in A&E receiving a Echocardiogram for suspected endocarditis- an ACHD Clinical Research Fellow performed the TTE. He was accompanied 3 on-call cardiologists (non- adult congenital), a radiologist training in Cardiac imaging and a foundation year 2 A&E doctor decided this was far more entertaining than 'routine' blocked arteries. As we were in A&E there was no gown so my female parts were out in their full glory and so was my colosotmy like bag. Excitement does get the better of people.

The story of consultants not believing you sounds remarkably familiar too. The conclusion I have drawn over a period of 20 years of seeing cardiologists and now beginning to work with them in a research group is that the profession tends to attract people with a certain type of character- namely rather self-assured, very fearful criticism and really do not like the answer "I am not sure." To name just one example last year (March 2016) when I saw my cardiologist she blamed my cardiac symptoms on my colostomy like bag (stoma). The stoma I have had since I was 4 with no problems symptoms appeared over the preceding two year unto March 2016. Six months later I got a rather sheepish letter through the post saying the scan showed deterioration and they wanted to operate. I could do nothing but laugh.

To be honest cardiologists do not even always respect each others opinion let alone listen to us. As I said earlier i received an Echocardiogram in A&E by an Adult Congenital Heart Clinical research fellow who identified a very leaky tricuspid valve and an abnormal structure on my mitral valve not consistent with my previous diagnosis. When I returned home from Uni my own Adult Congenital Heart specialist did not repeat the images and declared after listening to my chest she thought nothing had changed despite me pointing out the experience of the diagnosing physician. So lets just say my surgeon may be getting a nasty surprise in a few weeks.

So what about myself?

I have just returned from my first year at University reading Physics. On the whole it went really well with most my work graded a first. Awarded an academic scholarship for Semester 1 results. Sadly I got repeated infections in febuarary and fell somewhat behind so my semester 2 exams are unlikely to match my semester 1 exams and I am probably going to have to re-do 2 papers before September. This is stressing me out just a little bit as I am currently waiting on my Open Heart Surgery date and really do not want to interrupt my studies (had to do 1 repeat already after treatment went wrong 2 years ago). So generally bored at home revising for those and writing up my professional skills essay on Mechanics of cardiac Tissues which is due in September.

What are the Challenges I face?

Probably the biggest challenge I face is the tiredness that I suspect my heart condition causes. This alone would not be a problem as it is not awful, but I have to balance with needing to spend 1 working day a week (hour a day)on an infusion on the toilet as I was born with out the ability to go to the toilet, meal preparation taking infinitely longer as I have a congenital hand anomaly and struggle to use knives and then actually to keep up with my course can require extra effort as I am severely dyslexic/ suspected to be a high functioning autistic. The result was my social life at uni was near non-existent. Secondly is managing my mental health condition, I literally had only been out of therapy 2 weeks when I got the letter to say they wished to operate.

May I ask (If you have read this far) are you being seen at an Adult Congenital Heart Specialist Centre or Outreach clinic? ALCAPA is a congenital defect and should be treated by a specialist/ outreach clinic. There is a complete list of centre here:

thesf.org.uk/help-advice/sp...

Also you may have more luck finding someone with ALCAPA in the Somerville Foundation closed Facebook group. I personally do not use it as I find some of the middle age whining on it just a little irritating but I may at some point change my mind.

[Rebecca45]

My son is 18 and was told he had Alcapa in feb. We are finding it hard to come to turns with this .

[78alcapa]

Hello! Wondering how your journey is going. I was diagnosed with alcapa in 1973 as a child. I had open heart surgery in 1978 at the University of Michigan hospital. I was the 4th to have it done there and the 7th in the world. I'm a 47 year old woman and have lead a full active life. I'm happy to say that I was released from being seen at the university hospital just 2 years ago. I haven't had to take medication since I was 14. I feel very blessed. Just saw your post and was wondering how things have gone for you.