Genetic test after losing my 10 years old son

[DanielD]

Hello,

A year ago my, Ilan, my son went to sleep as any other night and in the morning we found him dead in his bed. Since that day our lives changed completely. Plus because we have another boy we found strength to carry on.

They had to make an autopsy but before the result the doctors told us that Ilan probably did from SADS (sudden arrhythmic death syndrome).

2 months after we got the results because the file was lost at the coroner's office.

Doctors requested samples to carry on a molecular autopsy to understand what exactly was the cause. After almost 6 months, we were told that the samples that we taken from my son are no good for extracting DNA as these are formalin samples and most DNA gets destroyed.

We've tried sending the samples to various labs in the UK but none of them could extract DNA.

My anger comes because the pathologist knew that this is probably a genetic problem, why didn't he keep frozen samples. Now Ramu chance of knowing what was the exact cause of death is gone as well as any chance of knowing if any of us including my younger son has that problem.

Is this negligence from the coroner's side? What can be done on that aspect and what can we do as a family to ensure we are healthy?

Thank you!

Daniel

[Jamesgui2]

Hi Daniel, I am so sorry to hear about your son. Unfortunately there is very little you can do. You could persue genitic testing in UK. Unless the problem leapfrogged a generation, there should be genitic evedience in either you, your son, or your husband. Genitic testing is in its infancy and you may not even have got a definitive answer from a viable sample taken from your son. There is the 100,000 genome project taking palace in the UK at present. You should request an appointment with an expert in genitics and find out if you can be included in the project. Although I would have thought with your history, genitic testing of the family would have been mandatory. Once again sorry for your sad loss, and good luck. Hope you get some answers. James

PS Google the 100,000 genome project. If you need any information I can supply it to you.

[DanielD in reply to Jamesgui2]

Thank you Jamesgui2 for your reply!

I did ask the gardiologist why not to test our DNA and his answer was that because it needs to be tested on the person that had the problem. By testing us (teh family) any result will be confusing and will not be definitive in either way that it shows.

After all that hapened, I am not sure who to trust and if he is saying this because this is true or he is trying to save money from the NHS.

I will definitely look at the 100000 Gnomes Project.

Thank you!

Daniel.

[Jamesgui2]

Hi Daniel, cant go into too much detail, but what the cardiologist told you is utter nonsense.Think about that logically- how does he know the results? Testing the parents COULD reveal some occult genetic problem? There is a lot of work going on at the Royal Brompton Heart Hospital. I am at a loss as to why he told you this, as there is no more a cogent case than yours for genetic testing. I may have been slightly misleading about the 100,000 genome project . Called the 400 project in Northern Ireland. It may only be for people who are living with complex undiagnosed illnesses. But as previous, you really should insist on seeing someone involved in Genetics. Most hospitals have Professors or Consultants working in this field, and would be the way forward for you. Good luck James

[DanielD in reply to Jamesgui2]

Hi Jamesgui2 , I think the best is to to request for a second opinion or directly request to see a specialist geneticist.

From what I've read in the 100.000 Genome project, it has a list of rare deseases and Cardiac arrhythmia is in the top of the list. So there could be a chance. I'll ask my GP to request participation in the project. I have nothing to loose.

Thank you for the information!

Daniel

[Jamesgui2 in reply to DanielD]

Great Daniel, glad I could help. Keep me posted. With good wishes James

[Jamesgui2]

Sorry Daniel, your GP cannot request this. There are a number of trusts that have consultants working in genetics. Strangely even they cant request enrollment. You must see a geneticist who thenrefer you to one of the centers taking part , or you geneticist can write with your history requesting enrollment.

James

[Jamesgui2]

This is what you will get

Thank you for contacting Genomics England via the ‘Track my Sample’ form on our website. Please disregard this message if you have already received a reply from us.

Since issuing the 100,000 Genomes Project newsletter, understandably we have received a very high volume of enquiries over the Christmas break and we are working hard to respond as quickly as possible. We are employing additional staff to speed up this process.

Please be assured we have received your enquiry, but due to the volume of requests our response to enquiries is taking longer than the anticipated 5 working days. We aim to respond to the vast majority of enquiries by the end of January, however we may need to provide an update on our progress in a few weeks’ time.

If you wish to contact our Service Desk team, you can call 0808 2819 535. Please note that the staff responding to these requests are not able to discuss health matters. So that we can rapidly process the requests at times the Service Desk may use an answerphone for you to leave your details. We will then call you back as soon as possible.

If you have contacted us on behalf of a participant, we can only respond if you are a parent or legal guardian of a participant under the age of eighteen, or a carer who has been approved to receive such information on behalf of a participant.

Thank you for your patience.

Kind regards,

Genomics England

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