Genetic Testing

Know Thyself—and Thy Medical History

“Know thyself” is a philosophical maxim, inscribed upon the Temple of Apollo in Delphi. It’s also part of a quote from Socrates, “To know thyself is the beginning of wisdom.” True wisdom is knowing… but also recognizing what you do not know, and what you need to learn.

November is National Family Health History Month, according to the US Surgeon General. This is an important national public health campaign to encourage all Americans to share their family medical concerns with family members, and to learn more about their own family health history.

I just turned 66, and am keenly aware that some of my family members, and many friends, are undergoing health challenges now. Kidney disease, cancer (a big one), heart problems… all of these can have a genetic component.

Hemophilia did not seem to run in our family—ours is the first known case in several generations. But diabetes is rampant. From an early age I’ve been careful about monitoring this, keeping my weight down, and staying active.

Knowing about your family health history of a disease can motivate you to take steps to lower your chances of getting the disease. Good places to start? Stop smoking—now. Exercise regularly (hike, bike, walk, swim) and change your eating habits. Get rid of poisonous soft drinks, limit alcochol. Family history is considered one of the most important risk factors for health problems such as heart disease, stroke, diabetes, cancer and even certain psychiatric disorders.

Knowing whether hemophilia “ran” in your family was important in family planning. For us, it was a surprise, but now we know the chances of hemophilia being passed on—an important thing for each child to know, for themselves and for their future partners. There are several ways to test for hemophilia pre-birth, and post birth.

Umbilical cord blood is now used to treat more than 80 diseases and disorders, including some that are transmitted to newborns. If you know your family’s health history, you can decide whether or not to store your newborn’s cord blood at birth. The stem cells from this cord blood could possibly be used to treat future diseases in your family.

There are free tools on-line to help start recording your family history. But start with your primary care physician, who will know the right questions to ask. Know thyself, thy body, thy health!

Hemophilia in the Land of Fire and Ice

We’re noticing a lot of news about gene therapy lately, with promises it will soon be commercially available for those with hemophilia B. We will see! In the meantime, genetic testing has been on my mind, especially as I flew to Iceland this past weekend. Iceland has been called the perfect genetic laboratory, but not because it has a population of little more than 366,000 people. Or, as one handsome Icelandic man told me last night in a pub, “Can you imagine dating at my age in such a small population?”

Iceland was settled by a small group of Norwegians around AD 900. The country was isolated for the next thousand years and has experienced little immigration. And the Icelanders kept excellent genealogies of their families, meaning we can trace back family lineages for, in some cases, thousands of years. Altogether, Icelanders have a relatively low level of genetic diversity, making it easier for scientists to detect genetic markers. I found one source that said two Icelandic families with a history of breast cancer can be traced back to a common ancestor born in 1711!

Fagradalsfjall volcano erupting this weekend

A third or more of the population has donated a DNA sample, to track familiar connections. This is important if you have a genetic disorder or disease, and want to get married. And if you don’t want to marry a relative!

With a population of only 366,000, there are 67 known people with hemophilia A—of which 47 are mild! Only 13 are severe. There is only one person known to have hemophilia B. Hard to imagine a country with so few people with hemophilia. The good news is that of course, they are well known, registered with the treatment center, and all receive excellent treatment. Iceland has socialized medicine (but don’t forget a 31-46% income tax rate).

From the Icelandic Hemophilia Society website, all people with severe hemophilia receive prophylactic home therapy. Others receive on-demand treatment. Recombinant factors have been used for hemophilia A and B since 1998, and since then, plasma-derived has not been used.

The Icelandic Hemophilia Society was established in 1977, to guard the interests of people with hemophilia, and to provide information and consultation to patients and their families. The board consists of 5 members, elected every second year except the chairman, who is elected every year. The current chairman is Birgir Orn Steingrimsson. All board members and staff work as volunteers.

Laurie Kelley at Fagradalsfjall 

The Icelandic Hemophilia Society is a member of the World Federation of Hemophilia, and the European Hemophilia Consortium.

Iceland is an amazingly beautiful country of cold and strong winds, though with a rather mild climate year round. It’s a land of volcanos, and I was fortunate enough to see the

Fagradalsfjall volcano as it was erupting. No volcanic eruption had occurred for 815 years on the Reykjanes Peninsula—where  Fagradalsfjall  is located—until March 19, 2021 when a vent opened in Geldingadalir, south of the Fagradalsfjall mountain. Lava flowed freely and dramatically until September 18, 2021. This eruption is considered unique among the volcanoes monitored in Iceland.

I arrived this past Friday, August 18,  at 4 am, while my friends back in Boston slept. With me was Trista Blanchard, a hemophilia colleague who I had only met once before at an NHF event several years ago, and who, two days later, became a dear friend. By 6 am, Trista and I were hiking up 4.5 miles to the volcano. We sat on the damp ground, marveling at the volcano’s ferocity, its expression. It roared as it spewed out molten rocks. This is what the beginning of earth must have been like, and we both felt like momentary and forgettable blips in the history of the planet. But happy blips: we felt privileged to witness this stunning geological upheaval. All around us for miles was undulating hardened black basalt, the result of a lava flow that had happened only two weeks ago.

We returned later that day to Reykivik, the capital, and I thought about that one lone Icelander with hemophilia B, whoever he is. He’ll make history, hopefully in the next couple of years, as being the first person in Iceland to receive gene therapy, and hopefully be “cured,” whatever that will mean practically for hemophilia, and for him.

The Supreme Court Decision and Genetic Testing

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.

Parents Sue Over Birth of Child With Hemophilia

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.

“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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