In 1990, we were looking forward to the birth of Caroline. My obstetrician prescribed prenatal vitamins, counseled me to avoid alcohol and the cat litter box (toxoplasmosis risk) and gave other advice on how to have a healthy baby. My obstetrician never told me that a woman who contracts CMV during pregnancy can pass the virus to the fetus. This risk could be greatly reduced with simple precautions such as not sharing food from my plate or fork with other people, not kissing young children on the mouth or face, and sticking to good hand-washing habits.
I was ignorant of how to avoid contracting CMV and Caroline was vulnerable to its devastation. In my first trimester I was sick with 103-degree fever, but my obstetrician only said, “Women get viruses all the time during pregnancy without problems.” Once again, she said nothing about cCMV.
A sudden weight gain in my seventh month led to an ultrasound that revealed Caroline’s abdomen was severely bloated with fluid (ascites). An excellent high-risk obstetrician treated Caroline in the womb by draining the fluid so that the pressure on Caroline’s developing organs and the risk of premature delivery would be reduced. He also ran tests on fetal blood.
The test results revealed that I had contracted CMV for the first time while pregnant with Caroline, and Caroline had developed a severe symptomatic cCMV infection. The doctors had a grim prognosis for us.
We were told by one doctor to, “Expect death or a child who could not exist outside of an institution.” Another doctor told me, “Do not bond with this baby because she will die soon.”
When Caroline was born at 35 weeks, she had an enlarged liver and spleen, an echo-dense kidney, petechiae, swollen and asymmetrical brain ventricles, intracranial calcifications, deafness, and she couldn’t eat. She was in pain and obviously felt miserable.
Five days after Caroline’s birth we heard Pediatric Infectious Disease Specialist, Dr. Gail Demmler-Harrison say, “There is hope.” That hope was ganciclovir, an antiviral drug already used in immunocompromised adults with CMV. A new clinical trial of ganciclovir in infants provided the best shot at healing Caroline and saving her from the progressive destruction and pain of cCMV. Within days of starting the ganciclovir treatment, we saw Caroline smile for the first time, take a bottle with gusto, heal, and thrive. Caroline had already been deafened
in utero, but she did not suffer any other permanent damage, and she was healed of all of her other symptoms.
A timely message of the dangers of cCMV and simple hygienic precautions would have given me a better chance of avoiding a CMV infection and passing it on to Caroline in the womb. Still, because of the treatment and early interventions Caroline received, my family is one of the fortunate ones. I don’t mean to minimize the hardship and challenges that being deaf has brought to Caroline’s life, but to escape severe symptomatic cCMV with only that problem is something we are thankful for.
Wearing hearing aids at four months of age; reading, speaking and signing at age three; and cochlear implantation at age 14 enabled Caroline to enjoy life and excel in school. Caroline received her master’s degree in Community and Regional Planning and is currently employed by a regional association of governments as a Senior Planner.
Caroline says, “The drug stopped the virus in its tracks. My life could have been so different. I could have had all sorts of cognitive and physical disabilities, like so many other babies born with cCMV. Instead, I was left with only profound deafness as a mark of what I, and my family, went through. My case illustrates that prevention and early intervention are key. It is my hope that one day cCMV will be a thing of the past, just like polio.”
Caroline has been featured in various publications over the years, and she and I have spoken at programs concerning cCMV, including at the 2008 cCMV Conference at the Centers for Disease Control and Prevention in Atlanta. Caroline, and her brother, as a control subject, saw a group of doctors and other specialists every year into their early 20s as part of the cCMV longitudinal study and the ganciclovir study. I worked with other cCMV parents and Dr. Gail Demmler-Harrison to pass cCMV education legislation (Maddie’s Law) in Texas in 2015.
I first learned of the existence of newborn screening in 2014 and have tried to educate myself about it and understand why cCMV is not on the Recommended Uniform Screening Panel
(RUSP
). This was also part of my research for the 2015 Texas legislation. I am thrilled that so many newborns are screened for various disorders and that lives and quality of life are often saved. But, a fatal error was made in selecting the original RUSP in 2004 by deferring the inclusion of cCMV. Twenty years later, cCMV is still not on the RUSP.
In 2004 when the original RUSP was devised based on the work of a genetics contractor, CMV was
deferred for inclusion on the RUSP because the contractor lacked expertise in infectious diseases.
The Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC)
has tremendous influence. Even though the Secretary of the United States Department of Health & Human Services did not adopt any condition for the RUSP until 2010, states and the medical community acted on ACHDNC’s recommendations from as early as 2004.
The absence of cCMV from the RUSP creates the perception for healthcare professionals and the public that cCMV is not the common and devastating congenital illness that it in fact is. Without universal screening, many cCMV babies, both asymptomatic and symptomatic, go undiagnosed.
It is devastating to know that over a third of a century after Caroline was diagnosed
in utero and received live-saving and ability-saving treatment, cCMV prevention information is still not presented, babies are still not tested at birth when treatment could stop the progression of cCMV, and parents are still not being advised about antiviral and other treatments in a timely manner or any manner at all. I am hopeful that pending federal cCMV legislation will pass and cause a huge step forward.
--shared by her mother, Jenny