Risk of Recurrence Meckel-Gruber Syndrome

QUESTION

Dear Experts,
I have lost two babies to Meckel-Gruber syndrome. The first baby died at 12 weeks gestation; the second died at 15 weeks.

I really want another child -- my first child is now four and it's been 7 months since Angelina died.

Is it likely I will loose a third child in a row? I wasn't aware of this disease and then I loose two in a row, so I really need reassurance. Is it possible for me to have a normal child? I know we have one, but Megan wants a brother or sister and I really don't know what to say as she is only 4.

ANSWER

Yes, it is possible for you to have a normal child. A genetics counselor will be able to explain to you the chances of your next child being free of this genetic makeup, versus being affected with this rare and fatal condition.

Whether you attempt another pregnancy will depend on how you feel about taking that chance. Many parents report feeling ready to try again when they can focus more on the odds of the next child not being affected.Of course, one of the frustrating aspects of calculating the statistical odds is that numbers like 25% or 50% cannot be applied to individual babies. That is, if your next baby has this condition, she or he will be 100% affected -- likewise, if your next baby doesn't have this condition, she or he will be 100% unaffected.

One way to get around the unknowns for individual babies is to use an advanced reproductive technologies such as Preimplantation Genetic Diagnosis and IVF, in order to attempt to implant in your uterus only embryos that are free of this genetic condition. Speak with a genetics counselor and your doctor about those options.

As for what to tell your four-year-old daughter, you might help her take a "wondering attitude" about the future. In other words, instead of pinning her hopes on a baby brother or sister, help her be open to whatever might happen, and reassure her that whether there is a sibling in her future or not, your family is complete and will continue to be the best for her. Naturally, you can be more reassuring to her if you too can adopt this "wondering attitude". Whatever happens, trust that this is the journey you were meant to have, and it will be fulfilling to you, perhaps in ways you cannot imagine or know yet. Even if you continue to feel a sense of loss, over time, as you grieve, you can adjust to what is, and let go of what might have been. And whatever happens, your adjustment will aid your daughter's adjustment, as she can follow the example you set.

And as your daughter gets older, depending on your beliefs about what happens after death, you can talk about her siblings who died, in a reassuring way. Over the years, as she becomes more sophisticated in her ability to understand life and death, you can answer her questions and listen to her thoughts about what role they played or still play in her life -- even if she gets the experience of having a surviving sibling some day.

We wish you the best,
-- Debbie and Mara
The Childbirth Complication Expert Team

Davis and Stein

Deborah L. Davis, Ph.D. and Mara Tesler Stein, Psy.D. are the authors of Parenting Your Premature Baby and Child: The Emotional Journey, a 2004 National Parenting Publications Awards "Gold Award" winner. They also collaborated on Parent: You and Your Baby in the NICU (2002), as part of the nationwide March of Dimes NICU Project. They.ve been invited to regularly contribute to Advances in Neonatal Care, a neonatal nursing journal; their first article appears in Spring 2005. They are the founding members of Partners in Perinatal and Pediatric Consulting, which promotes developmentally supportive care for babies and parents, as well as collaboration between families and health care professionals.

Dr. Stein is a clinical psychologist in private practice, specializing in the emotional aspects of coping with crisis and adjustment around pregnancy and parenting. She is regularly invited to lecture and give workshops on these issues throughout the country to conferences of physician and nursing groups, doulas, and lactation consultants. Since 1997, she has been consulting with organizations and providing training to health care providers, guiding their efforts to improve the level of psychological support and developmentally supportive care to families during and subsequent to perinatal crisis.

Dr. Davis is a developmental psychologist, researcher, and writer who specializes in perinatal and neonatal crisis, medical ethics, parental bereavement, parent education, and child development. Dr. Davis is the author of four books for bereaved parents, Empty Cradle, Broken Heart (Fulcrum, 1991; 1996), Loving and Letting Go (Centering, 1993; 2002), Fly Away Home (Centering, 2000) and Stillbirth, Yet Still Born (PILC, 2000). She is also on the Board of the Pregnancy Loss and Infant Death Alliance (PLIDA.org) and is regularly invited to write articles for professional periodicals and parent support materials.