Back in November, I posted 30 facts for Prematurity Awareness Month. Among them was the fact that prematurity is the leading cause of neonatal mortality. After prematurity, birth defects are the second leading cause of neonatal mortality. Actually, birth defects are actually the leading cause of death for infants during the first year of life (the neonatal period only includes the first 4 weeks of life). The March of Dimes defines “birth defect” as an abnormality of structure, function, or metabolism present at birth that results in physical or mental disability, or is fatal. This is a broad definition encompassing most congenital disorders – from Trisomy 21 (Down Syndrome) to Scarlett‘s congenital glioblastoma (brain tumor) to Peter’s patent ductus arteriosus (PDA). (I’m undecided as to whether my Mullerian anomaly fits the definition. Depends on whether you consider a tendency to miscarry to be a disability.) The March of Dimes funds research to understand the causes of various congenital disorders and to prevent and treat them.
Rather than discuss all birth defects, I’ll focus on those that cause neurodevelopmental disorders in this post. The March of Dimes awarded research grants to the following investigators:
- Asim Beg, PhD, University of Michigan at Ann Arbor, is studying the causes of a form of cerebral palsy called hemiplegic cerebral palsy, which affects movement more severely on one side of the body than the other. The ultimate goal is to develop a drug treatment to prevent or treat hemiplegic cerebral palsy.
- Robert Ho, PhD, University of Chicago, is seeking to determine the role of a gene in guiding the migration of immature nerve cells to their proper locations in a region of the brain called the cerebellum, for insight into how abnormalities in this gene may contribute to autism spectrum disorders (ASDs). ASDs are a group of disorders affecting speech, social skills and behavior that affect about 1 in 150 children.
- Soo-Kyung Lee, PhD, Baylor College of Medicine in Houston, Texas, is seeking to determine the role of a gene in development of the central nervous system, for insight into how abnormalities of this gene may contribute to neural tube defects, such as spina bifida (open spine) and anencephaly (a fatal brain defect).
- Melissa M. Rolls, PhD, Pennsylvania State University in University Park, is studying nerve cell structures called dendrites, which may be abnormal in most forms of mental retardation, including fragile X and Down syndromes. This research could be a step toward developing a treatment for an underlying cause of mental retardation, which affects 1 to 3 percent of the population.
My uncle, Kevin, has severe autism. All I can say is that autism is a terrible disorder that has caused my dad’s family a lot of stress over the years. My grandmother wrote me two weeks ago,
Kevin is in the hospital in Glendale so it’s about an hour and a half drive and today was pouring rain. He is being monitored as he was tearing his skin apart, scratching until it bled, so the doctor hospitalized him. I spent two hours with him, and then I guess he was tired because he told me to go to the door.
I pray that researchers will soon be able to better understand the causes of autism and develop more effective treatments.
My sister, Kelly, was born 7 weeks early and has hemiplegic cerebral palsy. She has had more than her fair share of challenges in life – learning disabilities, unkind peers, obsessive compulsive disorder, and strabismus in addition to her fine and gross motor difficulties. But I am very proud of her accomplishments and her persistence. I was proud when she learned to walk, when she no longer needed orthotic braces, when she learned to ride a bike, when she made the high school honor roll, and when she registered for college algebra. Kelly is leading a fulfilling life, though it’s not the life we imagined when she was a fetus.
I asked Kelly what one thing she would want other people to know about cerebral palsy. Her response: that it’s a spectrum of disorders. Just as you can’t judge a book by its cover, you can’t judge a person by their diagnosis. People with disabilities can have different challenges and abilities even if they have the same working diagnosis.
I believe there is a famous quote that reads,
Understanding leads to compassion, compassion leads to generosity, generosity leads to research grants, and then research grants lead to cures.
Or something like that.