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Genetics and Health

Genetics and Health Exclusive: A Personal Experience with PGD

by Hsien Hsien Lei, PhD on June 26th, 2006

A wider range of diseases for pre-implantation genetic diagnosis (PGD) of embryos was recently approved by the UK Human Fertilisation and Embryology Authority. Many families affected by breast cancer, hereditary non-polyposis colon cancer, and other diseases available for screening were tremendously relieved. It’s hard for most of us to understand what it’s like to be faced with the prospect of having children with severe debilitating illness so if we can become more informed, the more sympathetic we can be of these families’ plight.

When I received this touching email from a Genetics and Health reader last week, I knew that here was an opportunity for us to become educated on the issue. PGD isn’t just an impersonal technique. Real people are having to make decisions right this minute about their future.

With the permission of Rica Lode (not her real name), I’m reprinting her email. Rica will also be sharing her journey of seeking PGD in a multi-part series.

Hi Hsien Hsien,

I have come across your blog on genetics while doing research on pre-implantation genetic diagnosis. A short intro of my background. I’m in my 30s, and we ( my husband and I ) are looking into the option of having a child by PGD & IVF method. Not so much for gender selection but to ensure our next of kin does not inherit my husband’s genetic disorder known as Neurofibromatosis Type I. It is a mutated gene on chromosome 17.

We first knew about his condition after a year of marriage. He had an operation to remove a benign tumour, which was initially assumed to be a cyst by our surgeon. Only upon biopsy we came to realise it is much more. I remember the relief we felt when biopsy test results showed that the growth is not cancerous.

However, it proved to be a temporary relief when we realised that my husband would be facing subsequent growths of such externally or internally throughout his life in spite of the earlier removal of the benign tumour. I’ve been doing some reading up on NF to have a better understanding of NF.

Now I’ve a sense of deja vu, as once again I find myself in an unfamiliar maze, trying to understand what’s PGD all about.

Sorry for the long winded story above. What I hope to inquire from you is whether do you know which countries allow PGD? Malaysia do have one specialist center on that. However, upon my enquiry I discovered that they do not have the expertise to detect genetic disorder at chromosome 17.

That’s all for now. Thanks for your genetics blog. It proved to be useful while I did my research on PGD.

Regards,
Rica Lode

Tomorrow, I’ll share the second part of Rica’s story. If you were in her place, would you consider pre-implanation genetic diagnosis? Take the poll in the inner sidebar just above the G&H Honor Roll button.

Rica’s story Part 2.

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