How to Make a Family: The Blog

Diagnosis of Rare Disease Tipped Off By Common Illness

Primary ciliary dyskinesia, or PCD, is a rare genetic disease that can result in infertility, but a new study has found that the majority of people with PCD started out in life with respiratory distress.

PCD can be misdiagnosed as more common conditions like asthma, allergies, and cystic fibrosis. While there are numerous other distressing symptoms of PCD -- recurrent sinus and ear infections that don't respond to treatment, persistent wheezing and cough -- fertility becomes an issue because of one of the disease's hallmarks, cilia that don't do their job. Cilia are tiny hairs that exist throughout our innards and are charged with the duty of moving things along -- mucus, and with it, bacteria and other bad things. Cilia also exist in the reproductive system. PCD is sometimes called Kartagener Syndrome, immotile cilia syndrome, and ciliary aplasia.

In addition to stuck cilia, PCD patients have reversed internal organs.

The study authors found retrospective evidence that 80 percent of PCD patients have a history of respiratory distress as newborns. They therefore encourage the exploration of possible PCD diagnosis for patients who are term (born at or around 40 weeks), have respiratory distress or persistent hypoxemia (low blood oxygen), and particularly if the patient is already known to have reversed internal organs.

Link: Newborns with respiratory disease may have rare hereditary disease.

Letting Fertility Docs Off the Hook

For years, the rates of multiple and other high-risk pregnancies have been on the rise. For the same amount of time, reproductive specialists have taken a beating for at least having the appearance of being the primary sources for the increase.

But in this AP article by Marilynn Marchione on the Monterey Herald website, comments by maternal-fetal medicine (MFM) experts call attention to the other players in the high-risk baby story.

Link: Monterey County Herald | 02/13/2007 | Risky pregnancies increase.

Silber Leaps Ahead Again with Ovary Transplant

There may be alpha dogs in the repro med world clustered around the U.S. coasts, but a doc in the middle ground is good about bursting forward now and then to claim the Fearless Prize.

In St Louis, Sherman Silber MD has just transplanted a whole ovary from one sister to another. A few years ago, he garnered attention for enabling a woman to become pregnant and have two children by way of transplanted strips of ovary from the woman's twin. Before that, he was a pioneer in the use of microsurgical techniques to help men and women who previously sought contraception become pregnant by reversing their tubal ligations and vasectomies. Another now-common ART, intra cytoplasmic sperm injection (ICSI) was honed at Sherman's Infertility Center of St Louis.

Whole ovary transplant is not exactly ready for prime-time yet, but eyes will be on Joy Lagos, the recipient of an ovary from her sister, Meapple Chaney, as she attempts to regain what she lost through cancer treatment in 2004. Only now 30 years old, the life-saving treatment resulted in menopause, as it often does. She's hoping the experimental transplant surgery will result in children, a replenished sex drive, and reduction in osteoporosis.

Link: cbs11tv.com - Surgeon Successfully Performs Ovary Transplant.

RESOLVE Board Growing

RESOLVE: The National Infertility Association has announced new 2-year-term members to its Board of Directors. New members are:

Susan Caughman, President, New Hope Media

Marcelle I. Cedars, MD, Director, Division of Reproductive Endocrinology, University of California, San Francisco

Alice D. Domar, PhD, Executive Director, Domar Center for Complementary Healthcare at Boston IVF

Frank R. Dunau, retired financial executive

David L. Keefe, MD, Chair, James M. Ingram, M.D. Professor and Chairman of the Department of Obstetrics and Gynecology, University of South Florida College of Medicine

Deborah Rice, RN, Assistant Nursing Supervisor, Shady Grove Fertility Reproductive Science Center

Richard T. Scott, Jr., MD, Medical Director, Reproductive Medicine Associates of New Jersey and Clinical Professor, Department of Obstetrics, Gynecology and Reproductive Sciences, Robert Wood Johnson Medical School

Link to press release: RESOLVE :: RESOLVE: The National Infertility Association Adds Noted Family Building Experts to its Board of Directors.

News from Way Back When

I live in a city renowned for its sprawling, majestic medical center. Truth is, there are several spots around this behemoth city where clinicians and researchers cluster together, offering virtually any type of medical intervention that's ever existed and working on the stuff that's not real yet. So it's easy, I know, to forget how the rest of the world lives.

This article in the Billings Gazette takes me back to the day when fertility treatment was just starting to come out of the shadows. It's about a Montana OB/Gyn who is reportedly well known in his area for helping people make babies. The article's full of people's cases who tried and couldn't conceive until they turned to Doug Ezell MD. He's referred to as "the fertility king" by one RN, and one happy patient says fellow townspeople urged her to see "the baby man" when she had trouble getting pregnant.  The only diagnosis mentioned is ovulatory dysfunction, for which Ezell's patients are helped "by using medication to regulate" ovulation. Common, sure. Infertility? Often not.

Yet the term "infertility" is used throughout the piece, as are the dichotomous portrayals of emotions that the patients have experienced -- the long, tragic sadness that transforms magically into indescribably exuberant joy.

Old school stuff.

As the doc himself is reported to have said, "his job consists largely of telling people to have sex..." There's no mention of referring out those patients with fertility-impacting conditions that warrant a battery of tests, surgery, or ART.

I know that Montana is one of a handful of states that literally has no reproductive endocrinologists. Look up ASRM members there and you get six OB/Gyns (including Ezell.) Try exploring SART members in the state and you turn up nothing. So I guess it may seem unfair to play down what Ezell and his counterparts do for families. After all, unless you've got additional funds to travel into one of the surrounding states (all of which have bona fide experts and ART available, except for Wyoming), regular OB/Gyns with lots of good experience and joyful patient references is the best shot you've got in Montana.

Something to think about the next time you're fretting about that specialist appointment on the other side of town.

Link: BillingsGazette.com :: Doctor known for fighting infertility.