Preimplantation Genetic Testing for HLA Match

[curlygirl]

This is probably a sensitive question but I have no where else to ask and wondered if anyone had tried it. I called our hospital social worker today and asked about using IVF to hopefully have a baby with bone marrow that matches my 8 year old son's. The technical term for it turned out to be "Preimplantation Genetic Testing for HLA Match". I was hoping that people that had experience could post but if not I understand. Thank you!

[Neil Cuadra]

For those who don't know, Preimplantation Genetic Testing (PGT) has been used for years to screen for genetic problems when parents are known to have a particular genetic abnormality, when parents want to avoid an X-linked genetic condition by avoiding a male child, or when a mother (e.g., an older one) is at high risk of having a child with a genetic disorder. PGT is used in conjunction with in vitro fertilization (IVF) and avoids the difficult decision about terminating a pregnancy when it's determined that a child would have the targeted genetic disease. Still, PGT is not without controversy.

PGT for HLA matching (PGT/HLA) is an extension of that process that can detect the presence of a genetic disorder as well as a potential stem cell donor for a sibling, where the newborn's umbilical cord blood could be used to save the sibling's life.

This article by Dayal and Athanasiadis is one of the better summaries I've seen of the PGT process from the medical point of view, including PGT/HLA. This article by Devolder, while not recent, covers the controversy over the process while this article by de Wert, Liebaers, and Van de Velde discusses the ethics of PGT/HLA for conceiving a child with a certain HLA type and of PGT/HLA used to obtain stem cells directly (an area of research).

In considering PGT/HLA you'll first want to discuss the medical case for this approach with your son's doctors and of course you'd confirm whether an unrelated matched donor is already available. (I know your older son has already been ruled out.) If PGT/HLA is found to be a medical choice, then you, your family, and genetic counselors will have to discuss the other issues. It's a very personal decision, often influenced by religious beliefs.

I don't know a family that has used PGT for HLA matching but I know there is a growing number of them.

[curlygirl]

Thank you, Neal! This is great info. We haven't decided what to do yet. We've ruled out other genetic disorders we have not yet ruled out x-linked lymphoproliferative disorder, which affects only boys and often these boys die when they contract Epstein Barr Virus (infectious mononucleosis).

[Marlene]

I only knew of one couple who did that but the site that had his story is no longer around and I don't have any contact info for them. I think they were in Chicago. Unfortunately, their child died before the baby was born. They felt very strongly that this was the right path for them and encouraged others to explore this option.

[curlygirl]

Thank you, Marlene. I remember when I heard about the case on TV 20 yrs ago, I was back in high school. I remember thinking "I would try that if I had to." I still think that but I started making calls and looking into it today and found it utterly overwhelming. Maybe because I am in this position but also maybe because there are so few places that do it and I don't live near them; I would need to work with an IVF clinic that's never done it before and mail blood samples and tissue samples all over the place. I also have high risk pregnancies and would have to find a new OB that banks cord blood. I am going to need to take some time to absorb it and not rush it.

[sstewart09]

Here's a link to a story about this. I found this on a Facebook group called Bone Marrow and Stem Cell Transplant Survivor Club. Might be another place you could pose your question.

http://abclocal.go.com/kabc/story?se...les&id=9113026

[curlygirl]

Thank you so much sstewart. That is the story I was referring to. I feel that even though the odds are stacked against us, the odds were stacked against us for having our son develop aplastic anemia in the first place. When your loved one develops a malady that only 500 people in the USA develop in a year, who seriously considers odds anymore? In the best case scenario my son's ATG/cyclosporine will work perfectly, we will have a beautiful new baby, and the cord blood will be banked and never needed. In the worst case scenario I can say that I tried. We will also be broke but it will be money well spent.

[sstewart09]

I hear ya! This is not where I thought my family would be 6 months ago. Have you connected with Band of Mothers in the Fight Against Aplastic Anemia on Facebook? Lot's of families with children of all ages fighting this disease. Very supportive and knowledgable group!

[curlygirl]

Samantha, I have just "liked" Band of Mothers in the Fight Against Aplastic Anemia. Thank you! Also, best of luck to you, your husband, and your family!

[NLJabbari]

I know a couple of mothers besides myself that made unsuccessful attempts. I went through one round of treatment and was set to go should it have been successful, but it wasn't. Not even close for me, so I didn't attempt a second round of IVF drugs.

[evansmom]

Hi there.

My husband and I were in the final stages of testing and preparing for IVF with PGD when suddenly my son's counts, which had been looking promising after ATG, crashed and we had no choice but to go to unrelated bone marrow transplant. A matched sibling was going to be our 'ace in our pocket'. We had believed that Evan was showing a response to ATG and was headed for remission, but because we knew a relapse could happen, we would be prepared to rescue him with his sibling's cord blood or even bone marrow if the relapse was further in the future. While we did put very serious thought into going this route, it really was a no-brainer for us. A new baby to love, one whom we were more than capable of giving a good life to, and some protection for Evan. We knew we'd have no problem telling this child when he or she was old enough the circumstances under which they were conceived, and explaining how it was that they were born a hero.
We were dealing with an IVF clinic in Toronto that was willing to collaborate with Genesis Genetics in Detroit, who was in the process of preparing the genetic probe that would identify Evan's HLA. All of that was put on hold.

Not an easy decision by any means, we had to consider how much more difficult it would be if Evan relapsed while I was pregnant with his hero. Would our decision to hold off treatment until the cord blood was available have a detrimental effect on Evan? If Evan couldn't wait for his sibling, how difficult would it be to care for Evan in hospital while I was pregnant? What if I had complications with the pregnancy, perhaps requiring bedrest, and this would prevent me from being with my son in hospital and so on.

So you have to visit all of these scenerios in your mind and make your decisions based on medical advice, common sense and mother's instinct. Do what feels right for you.

Best wishes,

[curlygirl]

Thank you, NLJabbari & Evansmom for sharing your stories. I worry about many of the same things. I even thought about a possible surrogate carrier, but I can't afford that and IVF cycles. Evansmom, I'm glad Evan's transplant went well and he is now ok.