Genetics

The Supreme Court Decision and Genetic Testing

Laurie Kelley August 7, 2022

The recent decision by the Supreme Court regarding abortion rights had me thinking about genetic testing and hemophilia. I recall that when I decided to have another child, following my first who had hemophilia, doctors were pushing for genetic testing. Why? I asked. We had already decided that if a sonogram showed a boy, we would do another C-section. Otherwise, let nature take its course. The doctor kept offering genetic services, but… when I suggested that he wanted the test in case a parent might want an abortion if genetic tests showed hemophilia? The topic not everyone wants to discuss directly? And that would not happen in my case regardless? The conversation ended, happily on both sides.

I recall a case many years ago of a British couple who sued their doctor, because he told them that their unborn child would not have hemophilia. And he indeed did. The implication was that despite having a beautiful baby boy, they were arguing that they would have aborted the fetus, had they known he had hemophilia. So they wanted monetary compensation for bringing their baby with hemophilia to term.

Genetic testing, abortion… topics peppered with landmines of emotion, legality, and belief systems.

But the bottom line is: Do you wonder or know if you or your daughter might be a carrier for a genetic mutation that causes hemophilia? This topic also comes up in Facebook groups from time to time. Supreme Court aside, it’s a good question to consider.

There’s a chance that a female is a carrier if she is the mother, grandmother, or sister of a biological son, grandson, or brother with hemophilia; or the aunt, cousin, or niece of a male with hemophilia related through her mother.  If you or your daughter fits any of these scenarios, you might want to consider genetic testing to determine carrier status. There’s no need in the case of a female born to a male with hemophilia; she is an obligate carrier and will have the gene for hemophilia on one of her X chromosomes.

Genetic testing identifies changes in the normal structures of proteins, genes, and chromosomes. An integral part of genetic testing is the counseling that goes with it, to help patients understand and adapt to medical, psychological, and familial implications of genetics contributing to disease.

Many large health insurance plans cover genetic testing when it’s recommended by a doctor. Often, genetic testing for hemophilia is a covered benefit because learning hemophilia carrier status can impact medical care.  Many insurance companies consider genetic testing medically necessary if a person is at risk for inheriting a disease or disorder.

But insurance coverage for genetic testing is inconsistent among health insurance companies, and even within a single company’s plans.

There are pros and cons to genetic testing. It’s essential to consider the risks of not being tested, given chances of being a carrier, as well as the risks of being tested.

Some pros? Knowing carrier status before a medical procedure can help prevent bleeding complications. It’s probably good to test factor levels of females with a family history of hemophilia at as early an age as possible.  According to NHF’s Medical and Scientific Advisory Council (MASAC), at least 50% of females who are carriers for hemophilia also have factor levels below 50%, putting them at risk for excessive bleeding during delivery of a baby as well as during a surgery, accident, or menstruation.

It’s also important that your daughter understands the risks of being tested. For privacy reasons, some people choose to pay out-of-pocket for genetic testing so that the testing and results do not appear in their medical record. Ask a genetic counselor about the actual cost of testing before consenting. In 2017, eligible potential carriers could seek carrier testing at no cost through NHF’s “My Life Our Future” program at qualified hemophilia treatment centers.

It can be empowering to know if you’re a carrier of a genetic mutation that causes hemophilia. A woman who knows her risk of passing a bleeding disorder on to her child can better advocate for herself. And for her rights and beliefs—whatever they may be— on a national scale.

Why Harry Doesn’t Have Hemophilia

Laurie Kelley April 11, 2021

The randy royal Harry has been usurping the news lately, after his infamous interview with Megan on Oprah. But the royal who truly deserves some attention is Prince Phillip, Queen Elizabeth II’s spouse, who died last week at age 99. Hemophilia is known as the “royal disease,” primarily due to Phillip’s and Elizabeth’s joint family tree: Phillip’s great-great-grandmother was Queen Victoria, a known carrier of factor IX deficiency, also called hemophilia B. Let’s look at his family tree, to answer the question, why doesn’t Harry (or William, or Charles, or Phillip) have hemophilia?

Prince Phillip

Prince Phillip was born a prince (unlike Diana, Camilla, Kate and Megan, who married into the family). His mother, Princess Alice, was a great-granddaughter of Queen Victoria. Phillip was descended from the third child of Queen Victoria, also called Alice, who like her mother, was a carrier for factor IX deficiency, or hemophilia B. In fact Queen Victoria had nine children, of whom two were carriers (Alice and Beatrice) and one had hemophilia (Leopold). These are very good odds!

Alice married Louis IV, the Grand Duke of Hesse. Alice introduced hemophilia into the House of Hesse and this German lineage. There were 7 Hesse children, and like their grandmum, one had hemophilia (Frederick) and two were carriers (Victoria, Phillip’s grandmother, and Alix). Alix married the Tsar of Russia, Nicholas II, and gave birth to Alexis, who had hemophilia. So, Prince Phillip has a long and illustrious side to his family tree regarding hemophilia! It’s been proposed that Nicholas II was so distracted by his son’s suffering due to hemophilia, that eventually he lost his grip on the monarchy at a time when the Bolshevik Revolution was poised to strike. And it did.

Queen Elizabeth? Not so much drama with hemophilia. Why? She is not a carrier of hemophilia. She is a direct descendant of King Edward VII, a son of Queen Victoria who did not have hemophilia. Now, Queen Elizabeth and Prince Phillip are related as third cousins. But since Phillip did not inherit hemophilia from his mother (not a carrier) or grandmother (also not a carrier but with a flip of the genetic coin might have been), and since Queen Elizabeth had no hemophilia in her direct line, neither Charles nor his sons, William and Harry, have hemophilia.

Harry’s got other problems, but hemophilia isn’t one of them, thankfully!

The Royal Disease

Parents Sue Over Birth of Child With Hemophilia

Laurie Kelley March 25, 2008

The newswires are alive with this story: An Australian couple are suing their doctor because their baby was born with hemophilia. The mother knew she was a carrier. She knew in-vitro fertilization could not guarantee a daughter… and the result is a gorgeous baby named Jess who apparently has caused such emotional damage that the parents want financial retribution. Now age three, Jess is at the heart of what could be the first of a kind lawsuit.

“We love our little boy, but we are very sorry he has to go through so much in his life,” the couple told The Sunday Telegraph (Australia).”We tried everything to avoid this situation, and now our boy has to go through all the pain and treatment in order to survive. We now face the fact that Jess will require treatment for the rest of his life.”

Part of me wants to shriek “get real, grow up, toughen up, face the real world.” Suffer? After reading about what inhibitor patients endure, it’s unlikely Jess will suffer much. After visiting so many developing countries where NO treatment exists, Jess is living a dream come true. Good family, great health care system, plentiful medicine, no threat of viruses… from where I stand they are very lucky people… yet still they are seeking retribution.

https://mouthsofmums.com.au/mother-wins-16-million-after-suing-for-wrongful-birth/

“Paul and Fiona (who do not want to reveal their surname) are claiming damages for the shock and nervous anxiety caused by the unexpected nature of the birth.” Get in line… thousands of families have dealt with it–with no family history, no warning whatsoever. Their claim seems to negate all the emotional suffering the rest of us go through–and eventually get over.

I was speaking to another mom today about this case, which has everyone buzzing. She thinks the parents are just not informed about hemophilia today (the mother’s brother had hemophilia and was crippled). But I wondered, are they not aware or too aware? Are the parents profiting from something we all learned to accept, and they under took this risk willingly? They claim no one told them Fiona was carrying a boy, despite ultrasounds (and she didn’t ask?); had she known she would have aborted. Are they truly in agony, three years later? Are they just not aware of how good life can be with hemophilia in developed countries? Or are they looking to make a killing from the physician’s insurance, which also drives up health care costs for everyone?

But wait. In speaking with this mom tonight, I realized we are only skimming the surface. Snap judgments based on media reports are dangerous: what is the media not telling us? And despite what they print and even what the parents tell them, perhaps there is a bigger, more important plan here. Perhaps the situation wasn’t handled well medically. After all, they were assured at some point that what was selected and implanted was a female embryo. They must have paid good money for this procedure. Throughout her pregnancy, if she is correct, no one told the mother she was carrying a boy (hard to imagine no one thought to ask!! and where were the ultrasound pics?). And if the baby was a boy and the doctor knew, could the doctor have put the baby at risk of a head bleed by having a natural birth (the article did not say if the baby was born naturally or by C-Section)? If all this is true, maybe there was true medical negligence and what is being sought is not so much emotional damage (obviously they are not so damaged they cannot be good parents to Jess) but a punitive measure against the medical facility that failed them in so many ways. In this manner, the lawyer has to follow whatever strategy works to get that justice.

Tough case to judge. I hope the parents at heart are grateful for Jess. Knowing how fiercely almost all parents of children with hemophilia I have met love and protect their children, it is painful to read about the burdens they say this child is causing them –even if it is only said for the benefit of the courts to seek justice for all. It will be interesting to hear more of the facts come out and hear from the hemophilia families in Australia comment on this case. Thoughts, anyone?

Book I Just Read
The Alchemist by Paulo Coelho. I generally like Coelho who has a lovely, simple style of writing but usually manages to capture fundamental themes on life and the human character. Here, Santiago, a shepherd, leaves his life behind to follow his destiny after a dream about searching for a treasure at the Egyptian pyramids. He meets assorted people along the way who help him rethink his journey and ultimately his destiny. This book is a quick read, enjoyable, easy to understand. I don’t think it is Coelhos’s best by a long shot. It’s a bit too simple, though I enjoyed it because it was about traveling, far way places and above all following your destiny. I thought the ending was a disappointment–too much like a neat Hollywood ending. The book has met with mixed reviews. If you are spiritual, seeking or just like light tales with thought-provoking questions, you may enjoy this. Two out of four stars.

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