The case for genetic testing and updated medical records

UPDATE:  I have downloaded the actual article from JAMA - it is currently only available to persons that have a subscription to the journal.  Please email me if you would like me to send you a copy.  Below is the abstract from JAMA's website:

Implications of Hypertrophic Cardiomyopathy Transmitted by Sperm Donation

Barry J. Maron, MD; John R. Lesser, MD; Nelson B. Schiller, MD; Kevin M. Harris, MD; Colleen Brown, ScM; Heidi L. Rehm, PhD 

JAMA. 2009;302(15):1681-1684.

ABSTRACT

Context  Sperm donation is an increasingly common practice for achieving pregnancy in the absence of a male partner or when fertility is problematic. The unintended consequence in which genetic diseases are unwittingly transmitted to offspring is an underrecognized public health issue not previously prioritized by US Food and Drug Administration guidelines.

Objective  To report the clinical circumstances and implication of hypertrophic cardiomyopathy (HCM) transmitted by sperm donation to recipients.

Setting  Voluntary sperm donation through a US Food and Drug Administration–approved tissue bank.

Main Outcome Measure  Incidence of genetically affected offspring and clinical outcomes to date.

Results  An asymptomatic 23-year-old man who had no personal knowledge of underlying heart disease and who underwent standard testing that was negative for infectious diseases, repeatedly donated sperm over a 2-year period (1990-1991). The donor was later shown to be affected (in 2005) by a novel β-myosin heavy-chain mutation that caused HCM, after an offspring wasclinically diagnosed with this disease. Of the 24 children known to be offspring of the donor, including 22 who were products of fertilization via sperm donation and 2 conceived by the donor's wife, a total of 9 genetically affected offspring, 2 to 16 years of age and 6 males, have been identified with HCM (2005-2009). Three of the 9 gene-positive children have currently expressed phenotypic evidence of HCM, including one who died at age 2 years due to progressive and unrelenting heart failure with marked hypertrophy, and also 2 survivors with extreme left ventricular hypertrophy at age 15 years. The latter 2 children and the donor are judged likely to be at increased risk for sudden death.

Conclusions  This case series underscores the potential risk for transmission of inherited cardiovascular diseases through voluntary sperm donation, a problem largely unappreciated by the medical community and agencies regulating tissue donation.Recommendations include improved screening guidelines for donors to exclude cardiovascular diseases (eg, HCM) such as consideration for 12-lead electrocardiograms.

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From the DonorSiblingRegistry blog:

Sperm Donor with Serious Genetic Issues- The need for genetic testing of donors.

From Today’s Journal of the American Medical Association:

“Implications of Hypertrophic Cardiomyopathy Transmitted by Sperm Donation” JAMA, 10/21/09, Vol. 302, Number 15, p. 1681-1704, including commentary

A donor who had no knowledge of of underlying heart disease, donated to a sperm bank over a 2 year period from 1990 to 1991. In 1995 he was diagnosed with HCM (a disease of the muscle of the heart in which a portion of the myocardium is hypertrophied (thickened) without any obvious cause. It is perhaps most famous as a leading cause of sudden cardiac death in young athletes. The occurrence of hypertrophic cardiomyopathy is a significant cause of sudden unexpected cardiac death in any age group and as a cause of disabling cardiac symptoms. - Wikipedia)  Nine of his twenty four (twenty two donor kids, two with his wife) children have been identified as having HCM (eight of the donor children and one of those produced with his wife).

One child died at age two due to heart failure, two others have extreme left ventricular hypertrophy at age 15 years and are judged to be likely to be at an increased risk for sudden death.

From the article:

“While the US Food and Drug Administration (FDA) inspects the operation of the banks and screening procedures for donors, this process has been directed primarily toward the prevention of infectious diseases, with little attention to the potential transmission of genetic diseases.”

“This case underscores the potential risk for transmission of inherited cardiovascular diseases through voluntary sperm donation, a problem largely unappreciated by the medical community and agencies regulating tissue donation.”  The article goes on to say, “We are aware of only one other documented instance in which a genetic disease was transmitted to an offspring by sperm donation”.

These are some of the medical and genetic issues that have been reported on the DSR: Autism, Aspergers, Von Wilberands (blood disease), MCAD (genetic disorder requiring both parents to be carriers), Type I Diabetes, Albinism, heart murmur, hypertrophic cardiomyopathy, Marfan’s Syndrome, PHACES Syndrome,  Dwane Syndrome, Kiddney Disease,  Hemoglobin D, Metabolic Genetic Disorder, Complex Congenital Heart Defect, Tourettes, Hypophosphatasia, Williams Syndrome, Mitral Valve Stenosis, CHD, VUR, PKU, Tay Sacks, Atrial Septal Defect,  HLH, Hypospadias, Karatosis Pilaris, Ebsteins Anolomy, ASD, Van Der Woude Syndrome, Seizure Disorder, Horseshoe Kidney, Imperforated Anus, Hole in Heart, Cyctic Fibrosis, Spinal Muscular Atrophy, Amniotic Band Syndrome, Polycystic Kidney Disease, Congenital Heart Disease, Hydrocephalus, Zellweger Syndrome, Leukemia, Renal Disease, Severe Congenital Neutropenia, JDM, and Bi-Polar Disease.

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I think that a) the fact that the infertility industry is only owning up to a SINGLE case of a genetic defect/disease being inherited by a donor offspring is ridiculous and simply shows their sheer lack of concern for the children being created.  As Wendy has pointed out in the above paragraph, there are 47 different types of diseases (some more genetically-based than others) that have been reported on the DSR.  This is not counting the multitude of other diseases/disorders/defects that are NOT congenital and won't show up until the child is an adult or older, or perhaps will only appear in their children!!

It is time for the donor conception community to begin lobbying Washington and demanding these basic screenings as well demanding that donors are required to update their medical histories every x number of years, or upon discovering a condition in the future.  This does not deny them their anonymity, there is no way for the parents and offspring to trace him based on his medical history.  As for those who think that medical history should be kept private, then my response is these men and women should not be selling their sperm/eggs and their children and not take at least a shred of responsibility for their health and well being.

Boston = an unfriendly place for donor offspring

A DISGUSTING editorial out of the Boston Globe today calls for STRICT ANONYMITY for donors!  This just makes me sick........

For sperm-bank era, courts need clearer rules - October 11, 2009

"Supreme Judicial Court Justice James McHugh, addressing the case of a mother seeking the identity of a sperm donor in order to obtain child support and genetic information, was right to call upon the Legislature to clarify these issues. The Legislature would be deeply remiss to allow a situation with such broad implications to be addressed through a patchwork of legal opinions. The state must act now to avoid uncertainty - and to preserve a fertility system that has worked well for the majority of those involved."

"Any legislation must use as its starting point the reasonable terms - including a strong ethos of anonymity - under which all the parties entered into their arrangements, while imposing new common-sense requirements that address complications that may never have been envisioned when sperm and egg donations first became possible. A fair system of laws would impose some restrictions on all parties to the donation process."

"Children born under this system will have a natural curiosity about their biological roots. For some, the curiosity could take on the force of an impassioned search for identity. But such quests emerge from many types of families, of all configurations, and often reach frustrating dead ends. While recognizing the desires of children to know all aspects of their backgrounds, the state should nonetheless ensure that the identities of sperm or egg donors remain such a dead end. A breach in the wall of privacy under any but the most dire circumstances could jeopardize the whole fertility system. The greater good is clearly in encouraging the participation of informed donors and preserving their anonymity."

"Fertility advances have served to strengthen the bonds of parenthood and to extend the joy of family life. Anonymous donations have made many advances possible, and Massachusetts must do all it can to bolster a successful system. The happiness of thousands of families, and perhaps millions of children yet to be conceived, depend on it."

Honestly, the fact that they acknowledge the idea of identity and the child's need for that knowledge, they completely disregard everything by stating that "the state should nonetheless ENSURE that the identities of sperm and egg donors remain such a dead end" and that this is for the GREATER GOOD!!!!  Whose greater good?!?!?!  The infertility industry's.  This article is such a bunch of BS that I simply can't take it anymore.  With articles like this - who needs enemies.....

I think I am going to carry on BB Church's legacy of "Bad-Binky Awards" and award one to the Boston Globe for publishing such infertility industry lobbying crap that it offends not only donor conceived adults, but also adoptees, recipient parents who have done the right thing and chosen an open donor, and for the donors out there who have the heart and mind to open their arms to their biological children they helped create.

Comment of former sperm donor sparks outrage

In response to the article in yesterday's Boston Herald, "Jane Doe spells out daddy issues" over 200 people have commented on the article (as of this posting).

For those not familiar with Jane Doe's litigation, she is a single mother of twin girls, conceived by Donor D237 of New England Cryogenic Center (NECC) in 2000. Her daughters were born with potentially fatal health concerns and have had expensive and intensive medical treatments since their birth. It's been assumed that the girls inherited the conditions from their biological father, D237.

Jane Doe is filing a lawsuit in the state of Massachusetts for donor D237's medical records and his identity for her young daughters. She argues that NECC had informed her that donor D237 was willing to contact her daughters if she wanted a relationship. Now NECC is claiming that such statements were never said and that the donor is assured full confidentiality, including his medical records.

After the Boston Herald reported her lawsuit she sent the Boston Herald her response about her desperate attempt to provide some comfort for her little girls.

Most of the responses are hostile towards Doe and are from the obviously ignorant and uninformed masses of America. One poster in particular (thank you Karen for enlightening me to this) is a former donor from an unspecified bank.

TO RECIPIENT PARENTS AND THOSE TRYING TO CONCEIVE....BEWARE!!!!

These donors do NOT care about your children, or their health and well-being. The idea of an altruistic donor is a load of bullshit --- a donor who donated to "help" infertile couples would be concerned about the health of the children he creates, even if he wants to remain anonymous. Any donor who refuses to provide updated medical information is NOT an altruistic donor, and is NOT the kind of donor you want to create your children with!!!

Here are a few snippets of the comments of this anonymous donor:

"I was a donor for several years and according to a certain website I have more than ten offspring. (I'm not saying how many more) A couple of years ago I found out that I have a slow onset incurable disease that half of my offspring will inherit. I did consider telling the sperm bank but my wife was unhappy babout me doing so since the disease is quite rare and she was worried that our identity might be disclosed from our involvement in support groups."

"Although I am not happy that I may have passed down this disease to my offspring, I don't feel any responsibility for it. Overall I believe that my privacy is more important than notifying families that conceived through me and the law recognizes that with my privacy being constitutionally protected."

"My wife and I are also going through the stress of considering what to do about starting our own family. We want to ensure that any children we have are not affected by the disease. Ironically enough our doctor suggested using donor sperm. You couldn't imagine our response to that. We both said NO simultaneously."

"I do not feel that my offspring are my children. They share some of my genetic code, and some also share the disease bit of my genetic code, but that does not make them my children. Their parents are the ones raising them and the only ones responsible for them both financially and medically."

"I want to ensure that any child of MINE is healthy and that is why my wife and I are going to do pre-implantation diagnosis which is a very expensive form of IVF and not covered by insurance to ensure OUR children can be born disease free."

I am completely and uttlerly outraged by this donors comments, and if anything I think this PROVES why anonymity needs to be abolished!! If these men can donor sperm and cause so much pain to their BIOLOGICAL CHILDREN and to the families that they wanted to HELP, then the system as it currently stands is doomed.

Also remember that most donors are college students who need extra money. Having been a college student myself I know the mindset of 18-22 year old males. It's irresponsible and self-serving. They will LIE, CHEAT, and STEAL their way to making a quick buck --- especially if it involves something they enjoy! And lets face it, I couldn't find a single college guy who wouldn't want to get paid to jack off.

There are supposed regulations on donors, but they don't care. So long as they pass through the minimal tests for things like HIV, Tay Sachs, and a handful of others, and have a high sperm count, they are scotch free. They could care less if all the women in their family had breast cancer, or that all the men died at age 40 of heart attacks. If they're smart and want the money they will not reveal that information.

If an anonymous donor feels the way the above-mentioned one feels, and he publicly announces his cruel intentions, there are hundreds and possibly even thousands of others out there that are keeping their traps shut.

It is the behavior of this donor that will inevitably bring the end of anonymity in the US. Recipient parents and those TTC will not have it any other way. Yes, the sperm banks could care less. They want as many donors as they can get so they can make more money. They don't care about the children they are creating either. But the donors should care, at least enough to provide their biological children they sold the opportunity to know in advance of incurable inherited diseases that may strike them or their own children later.

If you are a recipient parent or are trying to conceive, this could potentially be YOUR DONOR, and your children could potentially be carrying the genes for fatal disease, and you won't even know what hit you until they are DEAD. Please speak up against this happening to more children!!! Talk to your congressmen, go to the media....support Jane Doe's fight for access to her donor's medical records, and his identity for the sake of her ill children --- not just for her children, but for all donor conceived children across the United States and the world! Do it for your own children!!

To this ignorant self-inflated egotistical former donor....

First off, if you think you're so macho that you can prance around insulting everyone and talking about your irresponsible escapades - YOU ARE NOT.  You're a coward, a creep, and a discredit to males everywhere.  Not only do you bring this up in a PUBLIC FORUM (OH, of course I forgot, you think you're the greatest thing ever) but you have the NERVE to say that you are going to do an EXPENSIVE repro-tech procedure so that YOU and your wife can have your precious little genetically-related monsters while your own biological children you sold away are going to suffer from whatever disease you have that you aren't man enough to fess up to.  Kudos to you for being so rich to afford PGD that's *shock* NOT covered by your insurance!!!

You make me sick, and I hope that one day your biological children will trace you (sorry charlie, but anonymity ain't gonna be around much longer with advances in technology and science.....) and haunt you down and make you pay for your actions and non-actions.  

Oh, and good day to you.....jerk.

Another new donor-conceived blogger!!

Shawn Vandor is 23-year-old donor-conceived man from Portland, Oregon.  His blog "It's Shawn Vandor's Blog Wow!" discusses donor conception, among other things.  He is a writer and a musician and a memoir of being donor conceived is in the works.

His interest in bioethics provides an interesting and educated response to the issues of ART and donor conception.  One post in particular is "The Birth of American Donor Insemination: A Modern Techno-Myth" describes the story of the first DI procedure in America and how the unethical behaviors of the doctor in 1884 has led the way for the American Medical Association (AMA) and the American Association of Reproductive Medicine (AARM) to continually legitimize and advocate anonymous donors and secrecy.

Here are some interesting excerpts: 

"I suspect the identity of the “true” biological father was kept secret for three reasons: 1) It was initially kept secret from both the husband and wife to protect Dr. Pancoast and his students from recriminations in case the merchant and/or his wife found their decision to inseminate her to be dishonorable or criminal; 2) The husband wanted to protect his wife from the potential shame of knowing she’d been inseminated, unknowingly, while passed out, by an anonymous man and; 3) Not wishing to lose face in his wife’s eyes the husband did not want his wife to know that he was incapable of impregnating her. In any case, the chief motivating factor in maintaining donor anonymity in this first ever use of human DI in the U.S. was - unambiguously – fear; each actor in the scenario was afraid that what they had done might be perceived as wrong and sought to protect themselves from wrongdoing by cloaking themselves in secrecy."

"In the absence of any federal or state legislation since 1884, the decisions made by Dr. Pancoast and his six anonymous students have, remarkably, set the standards for a medical practice that has become increasingly common and even, in the past few decades, highly commodified."

And my personal favorite:

Celebrating 125 years of Donor Insemination!

Creating Life and Avoiding Responsibility!

Please check Shawn's blog out!  I can't wait to  read his memoir when it is released.

Journey into the Bubble

A new blog from a UK donor conceived woman, Alison Davenport, called Journey into the Bubble, chronicles Alison's late-discovery of being donor conceived after learning she has "odd DNA" when she needed a bone marrow transplant.  

Her story is both heartbreaking and intriguing as she speaks out for the cause of identifying donors, and of the danger of genetic disease and how it can be even more difficult for those of unknown parentage.  

I meant to point her blog out several months ago (and maybe I did, I honestly cannot remember at this point!!) but even if I did I want to reiterate Journey into the Bubble as a highly recommended read for ANYONE thinking of using a donor, for recipient parents, and for donor conceived adults.

Embryo mixup woman gives birth

On my CNN reader this evening an article (Woman in embryo mix-up gives birth to baby boy) about the family from Sylvania, Ohio that had an IVF mixup and the wrong embryo was implanted into Carolyn Savage gave birth to a healthy baby boy today.  This baby has absolutely no genetic condition to either Carolyn or her husband.  Carolyn was, due to negligence of the clinic, an involuntary gestational surrogate!  While I'm sure they could have aborted the baby that was not theirs, they chose to carry him to term and relinquish him to his biological parents.

I think what this couple did was an amazing act of generosity, receiving none of the benefits that surrogates receive, and going into the procedure expecting to have a new baby of their own in 9 months (they already had 3 children).  I can only imagine what a painful experience this must have been, for both the Savages, the biological parents, but also for this poor little boy, who became attached to a woman while in the womb and is now tore away from her, even if he is going to his biological mother.

It makes me think of the legal ramifications of this mixup, and the subsequent outcome.  First of all, US law states that the legal parents of a child are determined by who gives birth -- the LEGAL mother is the gestational mother as she gave birth to him, and her husband is the legal father because he is married to her.  This is the beauty of donor conception - the "parents" are on the birth certificate as the legal and biological parents because the legal system allows them to deceive.  

However, nowhere in the article does it state that the Savages were listed as the biological parents on the boy's birth certificate, or that his biological parents had to legally adopt him.  The article says relinquish, but that does not mean that legally the child was not theirs at first.  I would think that if the average American learned that the couple that was this baby's biological parents had to ADOPT him, they would be outraged!!  Sure, it seems like it's such a perfect little system when we're dealing with embryos who were supposed to be put in another person's body, but all of the sudden when it's a boo-boo on a clinic's part, it's this terrible situation!

The interesting part is that there was no possibility for the Savages to even keep the little baby, even though according to US law they ARE the parents!!  This story definitely turns the whole legal aspect of ART on its side.

Long lost siblings reunite with missing sister

I saw this on the TODAY show and now I hear that they did in fact find the second half-sister!!  This adoption reunion story is just too amazing to not post here.  Brothers worked together for several months before realizing they were brothers.  Their half-sister's fiance sees them on a local station in Maine, tells his fiancee that he saw her brothers and she goes to the furniture store they worked at and they reunite.  And now.....while the three were on the TODAY Show their other half-sister in Florida saw them and all four are now reunited!  It turned out that the two girls actually went to school with each other, and the one was told not to tell the other they were sisters.  Now they are all reunited as family.  A beautiful story, but at the same time heartbreaking that these four lost their childhoods and early adulthoods knowing and growing up with each other.

Long-lost siblings reunite with missing sister

TODAY Show

September 23rd

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Lots of updates in the DC community

Hello everyone!!  I'm terribly sorry for being so absent the past few months.  Life has been really hectic around here.....my last semester of graduate school is underway, I'm still nannying for my lil boy, and I have 3 other regular babysitting jobs (one on Wednesday evenings for 15 kids!!!!).  I've also been doing my practicum at CWRU's Cleveland Health Sciences Library, which has been going well and I'm learning a lot!!  

Needless to say, I've been somewhat negligent on my postings here.  I will try to post several times a month, but as always I can't promise it for sure!

So.......lots has been happening in the world of donor conception!!  I only have time to touch on a few things here.

Mainly, a law professor named Julie Shapiro has had a lot to say about donor conceived persons fight against anonymity, and in particular the term "donor".  She does not understand how such a term is offensive to DC adults.  Please see her blog here.  The post Anonymous Donors And What To Do About Them has sparked an incredible debate and discussion, and she has followed up with several other posts with regards to this first one.  Adoptees and DC adults PLEASE voice your opinions!!!  This is probably the most important comment Julie makes:

What I don't quite understand is why it follows that the label "donor" is unacceptable.  But accepting that it is, would "progenitor" or "forebear" (if that's how you spell it) be better?  I would be content with either of those.

If neither of those work does it have to include the word "father" and if so, why?

This begins an entire debate on the legal versus social definitions in donor conception, and how these definitions, whether we like it or not, are what is keeping us from our goals.  What is the definition of a parent, of marriage, of father and mother.  And it's not only the literal definitions, but how these definitions are defined and refined by different interests.

This is all I have time to update on right now, but please go to Julie Shapiro's blog and post comments!!