By admin on October 30, 2009

In response to the article on the sperm donor who passed along a serious heart defect, Donor Sibling Registry Board member, Dr. Kirk Maxey, sent this letter to the editors at JAMA:

Dear Sirs;

It is admirable to note that Dr. Maron and his coauthors recognize that unintended transmission of genetic illness through sperm donation is inadequately addressed by current US FDA guidelines. I was rather stunned by their naivety, however, on their subsequent admission that they were aware of only one documented instance of such a medical outcome.[1] In addition to the 2008 case of Fragile X to which they refer, there are numerous others. Severe Congenital Neutropenia (SCN) due to ELA2 mutation was transmitted to 5 offspring by Michigan Cryogenics donor F827 as reported by Boxer et. al in 2006.[2]. In 2004, Dutch law regulating sperm donation was reformed to outlaw anonymity, establish a central donor registry, and limit donors to 10 offspring, stimulated in part by the disclosure in 2002 that a donor in the city of Den Bosch had conceived 18 children in 13 families before being diagnosed with autosomal dominant cerebellar ataxia (ADCA), when his diagnosis had been known to physicians but kept secret since 1997. [3] In May of 1995 in California, Brittany Johnson was diagnosed with Autosomal Dominant Polycystic Kidney Disease (ADPKA) inherited through her donor parent, California Cryobank donor 276, despite a clear history of kidney disease supplied on the donor family history questionnaire. ( See Johnson vs The Superior Court of Los Angeles, and references therein.)

There are no accurate records of the number of donor conceived children born each year in the US, but estimates range between 30,000 and 100,000. It should surprise no one that genetic illness is present in any population of this size. But in a tragic twist of fate, the procurement and supply of human gametes is an unregulated, profit-centered business, unlike the charitable and altruistic system used for blood products, kidneys, and virtually all other living tissue. The cloak of secrecy enacted by most sperm banks and the absence of federal regulations conspire together to insure that questions about the prevalence of inherited illness in this population cannot be answered, because the population cannot even be identified. Substantial numbers of reproductive services providers continue to counsel their patients to withhold from their offspring even the knowledge that they are donor conceived. The US donor conceived community today is a mixture children and adults who unwittingly harbor false personal genetic and family histories, and others who have gained in later life (at the cost of variable but real psychological trauma) the knowledge that their biological parent was a donor. It is unusual for these persons to have any information about this donor at all.

In 2000, Wendy Kramer and her donor-conceived son established an internet site called the Donor Sibling Registry, (DSR), a private, voluntary ad hoc substitute in the US for the government mandated donor registries required by Australia, England, and many other western nations. In the case of Pacific Reproductive Service donor 203, whose transmission of HCM is described by Dr. Maron et. al., 5 of the 13 recipient families (38%) were DSR members, indicating that the 27,000 registrants on the DSR site represent a substantial fraction of the donor conceived community. Theoretically, the incidence of genetic illness among this population should be less than the population at large, since sperm banks could easily take steps to disqualify donors who carry known mutations or other risk factors, and in fact most sperm banks stridently assert that they do so.

A simple survey of the medically documented cases of inherited disease among DSR members confounds this idea. Some defects are well defined, such as the balanced translocation of chromosome 10 in NECC donor D-250, a defect visible upon simple karyotype, which resulted in severe disability and the institutionalization of a donor conceived daughter, and the conception of a number of balanced translocation carriers.  Several donors have fathered cohorts of offspring having an incidence of autism/Asperger’s syndrome exceeding 60%.  A different Pacific Reproductive Services donor carries the gene for OCA1A albinism, while a Fairfax donor is associated with familial Hemophagocytic lymphohistiocytosis (HLH) and pre-adolescent mortality and morbidity among his progeny. Another Fairfax donor carries a cystic fibrosis (CF) mutation. There is congenital hypothyroidism, Williams-Beuren syndrome, PKU, and many more. The percentage of all congenital and developmental disorders among DSR offspring actually seems to exceed the population average. This deserves further study, as it is logical that a strong selection bias predisposes parents with sick donor conceived children to search for the DSR and pay its subscription fees in the hope of filling the void of paternal medical information that is the legacy of anonymous sperm donation.

The assertion by the authors that such genetic illness cannot be prevented is only true in the narrow sense that no one could be expected to screen a donor for this novel MYH7 mutation in the early 1990s. However, most of the cases of HCM revealed by Maron and his colleagues could have been prevented, if a simple protocol of periodic donor quarantine and detailed pediatric examinations had been instituted in combination with a mandatory central register of all donor conceptions. The graded protocol of donor quarantines that we have proposed many times, generally known as “5 & 2”, would have averted the conception and subsequent death of the 2.5 year old patient.

“5 & 2” prescribes that after thorough and complete medical qualification of naive donors, they are permitted no more than 5 pregnancies, and they are then quarantined until the youngest in this cohort reaches age 2 and completes an extensive pediatric evaluation, along with all of the other 4 half-sibs. If all are healthy and without detectable abnormality, the donor is re-permitted and can now be used for 2 times his prior number of conceptions – in this case, 10. Upon reaching that milestone, he is again quarantined, while his ten new two and three year offspring undergo their physicals, along with the now seven to eight-year old first set of sibs. Had this system been followed by Pacific Reproductive Services, the first cohort, which included the proband, would have contained four carriers of the mutation, two of whom have hypertrophy easily detected on cardiology exam, and the donor would have been retired ten years before conceiving the unfortunate patient IV-11, who died of his condition at age two and a half.

It is my sincere hope that the positive outcome of this new knowledge will be the meaningful reform of a seriously flawed system of donor gamete acquisition and quality surveillance.



Kirk M. Maxey, MD
President and CEO, Cayman Chemical Company
Member of the Board of Directors, Donor Sibling Registry
Ann Arbor Reproductive Services Donor #A013

1.  Am J Med Genet A. 2008; 146(7) p 888-892
2.  J Pediatrics 2006; 148(5) p 633-636
3.  J Med Ethics 2002; 28 p 213-214

By admin on October 27, 2009

The Donor Sibling Registry is still offering a free first counseling session
with one of our licensed therapists. We realize the importance of being able to
speak with someone in the mental health profession who is also well versed with
donor family issues. Please contact me privately if you are interested in
speaking with someone.

As always, I am also always available to help people trail blaze though the many
issues and challenges we all face as parents, donor conceived people and donors.
If you need someone to talk to, please let me know.

Thanks so much if you have already completed our surveys!

We have prepared three surveys: One for donors, one for donor conceived people
with heterosexual single moms, or moms and dads and one for donor conceived
children of GLBTQ identified parents.

PLEASE NOTE: surveys for donor conceived people are NOT to be filled out by
parents. Surveys are for mature middle schoolers and older.

Survey for donors:
Survey for those with single heterosexual moms, and also for those in mom and
dad families:
Survey for donor conceived children of GLBT identified parents:

By admin on October 20, 2009

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:  Ectodermal Dysplasia, 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.