Children and partner Genetically positive for cpvt :-(

[H3326]

I’m a bit lost and was wondering if anyone can shed any light for me. My partner and 3 of my children have tested positive for the ryr2 gene that can cause cpvt. I’m currebtky waiting for the 24hr ecg tests of the children to come back. My partner has never experienced any overly worrying symptoms just the occasional dizzy and lightheaded spell but has been officially diagnosed with it now. My 7 year old often complains of being tired and goes a bit pale after running about for a while so has to sit down. My 5 and 18month old have no symptoms. It’s just a bit of a shock that they all have the gene and I’m not being told very much about what’s going to happen next. The consultant has put them all on beta blockers and we have one de fib in the house. Should I get enough so the have one each, just in case? Or will one be enough for them all even though they sometimes go out separately?

I’m So confused but also struggling to come to terms with it all. I hate the thought of the unknown but I don’t want to stop them being children.

Does anyone else have cpvt and not have any worrying symptoms? He said the problems usually show in adolescence which is worrying in itself because they’re all so young

Sorry it’s a bit of an everywhere post, just trying to get my thoughts down before they eat me up.

Thank you for any responses.

[Sina-6491]

I am so sorry to hear you and your husband have received this news.

It is very traumatic to receive news that one person in the family has issues. Without it being four of them.

I think what you and your husband should do, is book a double appointment with your Gp as a special case.

Get he or she to explain what all this means not only for now in the short term. But more what to exspect in the future.

Also at the same time, book an appointment with the practice nurse for on going support.

Maybe contact the cardiac team at the hospital treating your family.

Also, tomorrow you could call one of the BHF nurses on this forum. I think they are around 9/17:00. They have the professional knowledge and experience to advice you on facts.

Please try not to ask doctor Google for information.

You will find a great % of it isn't accurate and it is very out dated.

I would have thought one defibrillator would be adiquit for one household. Evan with the fact that four of your family have the same health diagnosis.

One would think that as they have all been diagnosed now, that now means they are on the radar.

You said that they are all on beta blockers. And of course now they will all be being monitored.

So in the event one of your family members did require the defib. It really would be very unfortunate, very rare and highly unlikely that any other family member would need the defib at the same time.

Again, this is a question that really should be awnserd by a professional.

Our friends on here as well as myself, can only advice on our own exspireances and what we have read and shared on this wonderful community forum. None of us are medically trained apart from the BHF medical staff.

Evan if there is some exsiten patients on here who have indeed been medically trained. Doctors, nurses, paramedics or advanced first aiders etc.

You and I don't actually know these people, nor do they know us. Therefore they can not be relied apon for accurate information or factual advice. Stick to the people you know to be professionally medically trained.

It sounds to me that you are in good hands now. And in time you will find that with the right support and treatment. There really is good quality life after heart health diagnosis.

Sending happy hugs to you and your family, of comfort and support. Best wishes, Jo 😊😊😊

[sturon]

Hi there. What a worrying time for you and your family, but help is always at hand. I agree with Sina-6491 that Dr Google isn't the place to get information. The British Heart Foundation has help at the end of the phone. You can find the number here:

bhf.org.uk/heart-health/con...

Hope that helps.

Ron.

[BHFnurse_June BHF Nurse]

Hi there, I'm so sorry to hear that you have been having such a tough time. It can be difficult to come to terms with being told that your child has an underlying condition. But finding out as much as possible and getting the right support can really help you get through this difficult time.

I am assuming because your family have had genetic testing you are under a specialist centre for inherited heart conditions? Firstly I would suggest contacting them, often they will have specialist nurses and counsellors to answer any questions you have and provide you with ongoing support.

Also please do call us on our BHF genetic information line. We have specialist nurses who can listen and talk to you about the condition and discuss the worries you have. The number is: 0300 456 8383. Lines are open from 9am to 5pm Monday to Friday.

I have provided a link to our webpage below which has information about CPVT and you can download our booklet from this page: 'Inherited abnormal heart rhythms' which also has information on CPVT. Other organisations can offer information support too. Links to their websites are below:

Very best wishes to you and your family.

bhf.org.uk/heart-health/con...

sads.org/library/cpvt#.Wpf4...

c-r-y.org.uk/catecholaminer...