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Donor story in the news…when will they learn?

22 Aug

Sperm Donor’s 24 Kids Never Told About Fatal Illness

Rebecca Blackwell and her 15-year-old son Tyler were curious about his sperm donor father, whose identity had been anonymous since the moment of conception. Through good detective work, they were eventually able to find “John” three years ago.

What they didn’t expect to learn was that Tyler had inherited his father’s medical condition — a rare aortic heart defect that could have killed him at any moment.

Tyler’s father never responded to their letter to make contact, but just last year, John’s sister found the Blackwells online building on family tree and immediately told them that John had nearly died when his aorta ruptured at the age of 43, and two brothers and Tyler’s grandmother had the genetic disorder.

John, who has a family history of the connective tissue disorder Marfan’s syndrome as well as the genetic heart defect, had never notified any of the three sperm banks where he had fathered at least 24 children — 50 percent of whom could be affected.

“Tyler had a time bomb ticking in his chest,” said Blackwell, a 59-year-old special education teacher and single mother from Frederick, Md. “It didn’t occur to anyone to tell us.” (taken from Page 1)…

(taken from Page 3) But in 2010, John’s sister found Blackwell on Ancestry.com and asked why the mother and son had been searching for her brother. She had known John was a sperm donor but thought it was his responsibility to notify the Blackwells. When he didn’t, she sent an e-mail explaining the medical history.

“She told me right away she told me about the possibility of Marfan’s syndrome,” said Blackwell. “John’s brother Joe had been diagnosed, without the aortic defect, and his grandmother and brother Bob also had the heart defect.”When a sperm or egg donor develops a genetic disease after donation, the medical history is almost never reported to donor families, according Kramer, who has helped thousands of families share medical information.

One California donor passed on hypertrophic cardiomyopathy to nine of his 22 known offspring and one died, she said. A 3-year-old developed Rasmussen’s encephalitis, resulting in seizures and brain damage.

“[John] should never have been a sperm donor,” said Kramer. “How could such a thing happen in this era of medical advances and an explosion of genomic information about the causes and inheritance of disease, especially in the most medical advanced country in the world?”

Please take the time to read the entire article…the bits posted here are just part of the story and well worth reading.

This does not suprise me in the slightest.  Fortunately Tyler does not have Marfan Syndrome but what about his half-siblings from the same donor – the other 23 kids – do they have MFS or the aortic heart defect or both?  Tyler inherited the genetic aortic heart defect from the donor that could have killed him, if his mom had not been proactive and taken him for screenings before he had symptoms.  They started asking questions but how many don’t even think of it? 

It makes me screaming mad, but does not surprise me simply because it does not seem like anyone in the donor conception industry really gives a damn about the end product – nor does it seem like the want to be parents take the time to understand how genetics work.  They all just “assume” all will be well.  That hasn’t turned out so well in adoption so why they would think it would turn out well in donor conception leaves me shaking my head in wonder.  Does no one ever think to question things anymore?  Marfan syndrome is not a nice disease – nor is the aortic heart defect – both cause death.

Marfan syndrome (MFS) is a spectrum disorder caused by a heritable genetic defect of connective tissue that has an autosomal dominant mode of transmission.  ***

Bernard Marfan was born in Castelnaudary, Aude, France on June 23, 1858. In 1892, he was appointed assistant professor of pediatrics in the Paris faculty. Marfan described the disease that still bears his name at a meeting of the Medical Society of Paris in 1896. He presented the case of a 5-year-old girl named Gabrielle, who had disproportionately long limbs.

In later studies, further anomalies were documented, including arachnodactyly (long digits), cardiovascular abnormalities, and dislocation of the ocular lens. A common and often lethal complication of MFS is dissection of the aorta, and the genetic inheritance is now known to be autosomal. Marfan gained an international reputation and was widely recognized as a pioneer of pediatric medicine in France. This was very much the case in Britain, too, where he received an honorary fellowship of the Royal Society of Medicine in 1934. ***

The estimated incidence of MFS ranges from 1 in 5,000 to 2-3 in 10,000 persons.

They now know the gene for Marfan Syndrome so it can be screened.  They know the outcome of this connective tissue disease can be fatal and that it is transmitted as a autosomal-dominant inheritance, 

The article “Sperm Donor’s 24 Kids Never Told About Fatal Illness” (link above) states genetic screening is nice but not required, and one of those oh well you can’t screen for everything- true but you can screen for diseases where the gene is known…and the disease has been known for well over a hundred years and can be fatal – it involves the aorta….

(taken from Page 1) The American Society for Reproductive Medicine (ASRM) has 15 pages of guidelines for gamete donation.
 
“Donors should be healthy and give no history to suggest hereditary diseases,” the guidelines say. “Some institutions offer chromosomal analysis on all donors, but it is not required.”

Although the FDA only mandates that clinics keep records for 10 years, ASRM recommends that record-keeping be permanent. Those that don’t are “removed from our membership,” said ASRM spokesman Sean Tipton.

But Tipton said that the state shouldn’t “change the rules in the middle of the game.”

“We think that it’s important that parents be allowed to make decisions on how to build their families,” he said. “I don’t think there’s a way to make human reproduction perfect.”

“It’s unfortunate that anyone who has ever developed a disease or disorder, but they will and all you can do is use the best and most practical screening available at the time of donation,” he said. “You can’t screen for everything.”

I clearly do not understand why you cannot update the rules regulating screening of donors – or making all donors known.  It makes sense to do that – up to and including life-saving knowledge.  Medicine certainly updates their protocols as knowledge becomes available in diseases and how to screen, how often, when to update your family health history, who should be vaccinated, who should get what, when…so why not the ART industry?  The UK updated their requirements in 2009.  New guidelines for screening of sperm, egg and embryo donors in the UK.
 
I am also not a fan of the “it’s important that families be allowed to make decisions on how they build their families” as the first concern.  The first concern should be the rights of the donor conceived to a comprehensive family medical history with access to update it AND the right to know who the donors are. 
 
That is what bothers me the most – at least in adoption they pretend that the first consideration is “in the best interests of the child” – in ART I seldom find a mention of that at all.   
 
 
1 Comment

Posted by on August 22, 2011 in Ethics

 

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One response to “Donor story in the news…when will they learn?

  1. wsbirthmom

    August 23, 2011 at 1:43 am

    Fantastic post, and point well made at the end!

     

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