lost my brother to SADS

[MeganR13]

Hello,

I recently lost my brother at Christmas, he was only 30 years old and was fit, active and health. Was studying at university to become a physiotherapist and had his whole life ahead of him.

We recently got his cause of death which was due to SADS. I’m due to go for genetic testing and have an ECG and will then be referred to cardiology.

Has anyone else on here had to go through the same procedure as this? Im just interested to know what the following testing will involve, as I have read a lot on the the British Heart Foundation and C-R-Y website. It makes me a little anxious reading all the testing that may be done.

Even more so because my brother went to the doctor twice last year for blood test and ECG’s and nothing was ever picked up.

He did seem to be quite stressed last year and maybe dealt with anxiety

[Tos92]

I’m so sorry to hear about the sudden loss of your brother. I imagine it was a very difficult time for you, your family, and friends. I have no advice to offer in terms of SADS and what the tests involve, but I did want to pass on my condolences and well wishes.

The BHF have a heart helpline. You might find it useful to speak to one of their cardiac nurses regarding any questions about the heart condition and what types of tests are typically involved and how to manage them. I’ve linked the number below.

0808 802 1234

I imagine a holter monitor would be one of the tests involved as a basic standard test which is very straight forward and easy. However, do give BHF a call and see what they have to say.

Good luck for the tests.

Tos

[Blearyeyed]

I'm so sorry to hear about your loss.It's hard enough to deal with grief in these circumstances but I'm sure the anxiety you must feel about having to get tests much make you feel much worse.

So I think you are very brave not just to do the tests but also to reach out like this to us all.

If you ever need to chat we are hear for you and will help all we can as you go through this process.

I do not have SADS but I and my daughters have been to the Genetics Referral Service to test for another inherited condition.

I hope it will put your mind at rest to hear that they are very considerate as well as thorough and only do the tests required in stages to make it easier for you.

We were initially given a phone consultation when we answered questions about our family medical history, so it will be helpful for you to find out the histories of your parents , grandparents and any aunts, uncles etc.

After this we were booked in for an ECG and Echo. Again the people conducting the Echo understood the situation and were very kind and considerate.

They may choose to do a Ajmaline test with your first ECG or wait until after your genetics test is complete.

This is a safe test , it's done on people of all ages , it involves them giving you the test dose whilst doing the ECG to see if you get a faster heart response.

If you've not had palpitations before it might make you feel like you do after running or if you are feeling nervous. You can have someone with you whilst it's done and it will all be over very quickly.

We had a face to face with the genetics consultant a few weeks after the ECG and Echo whom went through our questions again and did a examination then we went and had our blood tests.

The genetic blood tests for SADS will be done on those samples . Depending upon your results they may be able to give you the answers without further testing ,

You receive a letter explaining everything about their decision and your results in detail.

You will probably be referred on to the Cardiology Department from there and they will decide on whether other testing is required and if you will need regular check ups by considering the genetic test results.

It could involve an exercise test , but again , this is done with care and you aren't pushed to do more than you can manage they stop the test as soon as you want to.

They will give you all the advice and help they can to prevent problems and reduce the risks for you. You can ring to speak to the genetics counselling service at any time you feel concerned or have a question.

My family and I found going for genetic testing a relief. We were lucky enough to have the more severe issues ruled out , but having a diagnosis of what we do have meant we can get the right care we need and make the right self care decisions to keep as well as we can and reduce our risks.

It's such a hard time for you but try not to lose hope.

You may not have the same genetic marker as your brother , and even if you do have it, it will not necessarily mean that you will develop the health issue it can cause.

If you require treatment for something that can cause SADS it will give you the best prevention that you can get.

Take care and please post again if you need to talk , and consider using the BHF helpline or genetics counselling services to get more support. Bee

[Alixia]

hello, does sudden death run in your family? My grandad and cousin died in their 30s, and my mother and aunt died when they were 50.

I had a cousin contact me as they had cardiac issues in their 30s which turned out to be caused by the LMNA gene. I asked my GP to refer me to cardiology, and had a holter monitor which showed a slow heart rate and heart block/pauses. I was fast tracked to have an ICD fitted as they suspected I also had the LMNA gene and could die suddenly from cardiac arrest like my grandad, mother, aunt and cousin did.

I had blood taken for genetic testing, and it felt like the results took forever to come through. My brother and other cousins at this point had to wait to see if I had the gene before they could be sent for genetic testing. One of them started being treated as though they had the gene as they had suspicious results on their ECG and holter monitor before the genetic test results were back. A positive result finally came back after a few weeks, and the process started to get my other family members checked. My brother’s test was negative, but my 2 other cousins were positive for LMNA and they are now being treated for the heart issues which have been hidden until now.

Have you been offered a holter monitor? I also had ECGs in my 20s and early 30s like your brother, but the few seconds they recorded my heart for never showed a serious issue. I also had cardiac MRIs that came back as ‘normal’. It was only when I had the holter monitor for 48hrs that the issues were picked up.

It’s a very scary time to be waiting for results. I always felt something wasn’t right with my heart as I’ve always had an increasingly slow heart rate all my life even though I’m not particularly fit, and the family history of sudden death made me suspicious of my own health.

Definitely ask the cardiologist for a holter monitor when you go to your appointment, as an ECG only records your heart for 10 seconds. My severe heart block and pauses only happened when I was asleep so would never have been picked up on ECG.

If you have access to private healthcare, you can be fast tracked for the holter monitor, but you have to wait for the NHS for the genetic testing.

[Murderfan58]

The only way the the gene for SADS would have been detected if your brother had his whole genome genetically tested. Ordinary blood tests wouldn't have showed anything . That is the test you need . Not just a panel but your whole genome genetically tested.

I was born disabled in constant pain and feel a lot . Parents told growing pains and I was clumsy.1988 the limb jerks and increase in pain started . Our children where 4 and 6 months.

Long story short saw Professor Marsden at the Neurological hospital in London. My GP had found the best neurologist for me in the country in 1992. He had me in for a week and ran every test available at the time. Couldn't tell me what was wrong but what I hadn't got. But put me on tablets to help with the symptoms. Didn't see any other neurologist until 2017. He ran same tests but there weren't as barbaric this time. Still no answer.

I moved from the black country to the north west in2019. My new GP sent me to the Walton Centre January 2020 and my neurologist put me on Clonazepam and after 32 years of limb jerks and 4 seizures within 2 weeks my limbs where still and have been since. He had blood taken to have my whole genome genetically tested. Covid hit so my neurologist didn't get the results until March 2022 . 1st April 2022 I finally know I was born with hereditary Hyperekplexia gene mutation SLC6A5 type 3. If he hadn't had my whole genome genetically tested it wouldn't have been found. He hadn't had a patient with it nor his colleagues as it's rare . But he put my on the right tablet to help with symptoms which are vast.

My GP sent me to see cardiologist in January 2020 as well . Over 2020/2021 turns out I was also born in a small hole in the side of my heart and have PAF .

So make sure they test your whole genome not just for SADS. Wishing you well.

Very sad your brother died so young. My condolences to all your family.

[Cee-Cee1]

Hello Megan - and welcome to the forum, you'll find lots of lovely people here who will be more than happy to help. I'm afraid I know next to nothing about genetic testing, but I just want to pass on my heartfelt condolences to you and the family on the tragic loss of your brother. Carol

[Danceawaytheblues]

I can not add anything that has not already been said Megan, I just want to add my sincere condolences for the loss of your brother. May he Rest in Peace.

[elliebath]

May I just add my sincere condolences for the tragic, premature loss of your brother. I know nothing about genetic testing I'm afraid, but I hope you get reassurance from the other replies here.