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PGD - Preimplantation Genetic Diagnosis

DebWestbrook
0 Recommendations

I have VHL and am the first person diagnosed in my family, although we do assume that my father had VHL as he died from Kidney Cancer at the age of 40.

My husband and I were exploring having children and were told by our doctor that we could do PGD (Preimplantation Genetic Diagnosis) which means they can take my eggs and test them for VHL and only implant the healthly ones through IVF) we went to a private clinic to have this done and now the lab just informed me that because I am the only one in the family that has been diagnosed with VHL that they can't do it as they don't know what to test for, I need more people in my family to be diagnosed before they know exactely what to look for. Has anyone had this done, any advice??

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Cancer Pregnancy Kidney cancer

12 replies

prov356

My understanding is that in order to proceed with PGD, you have to have your VHL mapped through the genetic mapping process. My husband and I looked into this option as well but never went through with it. The mapping has to happen first (blood drawn from VHL patient) then the embryo is tested before implantation to see if positive for VHL gene. My understanding is that every family's VHL looks different on a gene level (some mutation, some deletions)--so they have to know what yours looks like to test against the embryo. I did most of my research online...never spoke to anyone or any clinic directly and it has been several years. We ruled this option out for us personally, so never pursued past personal research. Hope this is helpful!

joyceg98

In at least one other case I know of they were able to do the necessary mapping by using the blood of the unaffected parent to sort out what material came from your mother and what from your father. Is your mother willing to help?

As the genetic counselor for a contact at the PGD testing lab that you could speak with about possible ways to accomplish this.

Best wishes,
Joyce

Blind_Kiwi

hi Deb, My wife and I have just started the PGD process. We both had to give a blood sample along with both my parents that is then sent to Australia to do a mapping study at a place called monash I think. My mother also has VHL. We were also told that both parents samples are needed to get an accurate result. Fingers crossed though, You never know with technology today and I would suggest doing as much investigating as you can. Best of luck.

joyceg98

Apologies for the typo in my second paragraph above. It should have read...

"ASK the genetic counselor for a contact at the PGD testing lab that you could speak with about possible ways to accomplish this. "

I pursued this a bit, and learned that this method does work but only for "point mutations" -- in other words, one of those little misspellings (C-to-G alteration, etc.) -- one letter dropped or added, two letters swapped. In the case of a deletion, it's much more difficult, and most labs do not have sufficient people-power to do the work required.

They have to set up the procedure and the "markers" in advance, because once the embryo arrives they have to complete the analysis within a short period of time, so that the embryo will still be viable once the testing is complete.

Best wishes,
Joyce

joyceg98

FYI, Dr. Mark Hughes, inventor of the PGD technology, will be speaking at our conference in Orlando June 28.

Y'all come!
Joyce

beccaloo

We don't have kids for two reasons: My VHL has left me permanently disabled and I don't think I'll be able to be the kind of mom our child (and every child) deserves to have. Secondly I fear having a child with VHL b/c as tough as it is to be the one with the disease, it'd be 10 times worse watching someone I love go through what I have.

I had no idea though that there was such a procedure as this though. I doubt we'd be able to ever do it b/c financially we're just barely scraping by. I have to ask though even though Miss Manners would probably say it's a little impolite and uncouth but: what is the cost of this kind of thing and how do you pay for it b/c I'm guessing insurance won't cover it? Can anyone direct me to a website or somewhere to get more informaion on this procedure? I have no idea where to even start pursuing this option. Would I ask my primary care doc or another member of my medical team? Is it a hospital kind of thing, or is it a special clinic kind of thing? Thanks! And I know, that's more than 2 questions! :o)

Rebecca.

DebWestbrook

I live in Canada and went to a private fertility clinic in Toronto. Where are you from???

In Canada it is not covered, and most health plans here do not cover this procedure. Although some of the fertility drugs are covered through most drug plans the procedure here runs around $10,000 - $17,000.

joyceg98

As a general rule, figure that In-vitro fertilization (IVF) costs about $10,000 per try, and it takes an average of 3 tries to get a successful pregnancy. Add to that the cost of the PGD which runs about $2000-3000.

In some states, health plans are required to cover IVF costs, and insurance might cover the PGD as well. I know one couple where her insurance covered the IVF and his insurance covered the PGD. It varies from company to company and state to state.

Where to find out? Consult with a fertility clinic or genetic counselor in your state. Fertility clinics know best about the IVF part, might also know about PGD. If not, a genetic counselor should be able to help with the PGD part.

Best wishes,
Joyce

Vhl_pgd_girl

How did you get on after this was posted? Did you go down the PGD route?

DebWestbrook

We were told by Dr. Hughes that we were not eligible for PGD - because I am the only one in my family with VHL it was not possible to do a DNA linkage on my eggs as this procedure needs to be done within a short time frame (less then 24hours)

We decided to pursue children anyhow and and I now pregnant due in 4 weeks with our first child.

My husband and I are both thrilled.

If anyone that lives in Ontario, Canada is interested in PGD, please let me know and I can give them the details of who to contact.

Vhl_pgd_girl

Sorry to hear that PGD wasn't an option for you. I've been reading about so many families who took the 50/50 risk anyway and life seems perfectly maangeable. Congratulations and best of luck x

pupa

DEarest Debwestbriook
Well I hope yo al share the news when your baby arrives. Ours prays are wishing you a healthy baby and happpy mom for all your courage you deserve a miracle love to you

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