October Isn’t Just for Breast Cancer Awareness
Many posts at DNA Science have been about families navigating life with a rare disease. I especially think of them during October, when so much attention is focused on breast cancer. One in eight women will develop breast cancer at some point in her life.
I know how important regular mammograms are – a scan late last year led to the surgery that likely saved my life. But I find my anxiety ratcheting up with the pervasive symbols and slogans, the pink apparel, labels, products, lit buildings, even garbage cans. Others in my thousands-strong closed breast cancer Facebook group are antsy too, although we don’t seem to be in the majority.
The pink October movement does a lot of good, in many ways. Still, I’ll skip the marches, for the reasons that others have posted on Facebook: I don’t need a reminder, I don’t want to be defined by an illness, and people are already aware of breast cancer. Instead here are a few other worthy causes that have awareness campaigns in October, not all of the conditions rare.
Rett syndrome affects 1 in every 10,000-15,000 girls and is due to a dominant mutation in a gene on the X chromosome, MECP2. The gene is a transcription factor, which means that it controls a bunch of other genes, disrupting neuron crosstalk in the brain.
Affected girls seem okay in infancy and early toddlerhood, but then development slows. A telltale sign is a very distinctive holding of the hands. The girls develop problems walking, have seizures, and may have autism and/or intellectual disability. Many die young.
A very unusual case that made headlines in January is the son of NBC correspondent Richard Engel and Mary Forrest. Rett syndrome typically arises as a new mutation on the X chromosome of sperm, but the boy’s condition was traced to a mild mutation inherited from his mother. Another organization is the Rett Syndrome Research Trust.
Down Syndrome
The National Down Syndrome Society started awareness month. The mantra of Up With Downs is to “celebrate people with Down syndrome and make people aware of (their) abilities and accomplishments.” And the National Association for Down Syndrome (NADS) website has lots of information on awareness month.
Like breast cancer, Down syndrome is familiar. It arises in three ways.
Most cases of Down syndrome are due to trisomy 21, a chromosomal accident that shuttles two copies of chromosome 21 into an egg or, less commonly, a sperm, instead of one. About four percent of cases result from a translocation, in which different chromosomes exchange parts and a fertilized ovum ends up with too much chromosome 21 material. Similar anomalies with the chromosomes that include more genes (#s 1-20 and 22; 21 was historically deemed the smallest by accident) cause much more severe conditions, many not leading to live births.
Mosaic Down syndrome is even rarer. It happens when the chromosome 21 pair separates unevenly after the fertilized ovum has divided, so only some cells get the extra one.
Thanks to excellent supportive care, life expectancy for people with Down syndrome is now age 60. In 1945, it was 12. Down syndrome occurs in about 1 in 1,000 births — not so rare.
Liver Disease
It’s liver awareness month too. I am aware of my liver because I have polycystic liver disease. The only symptom is panic in doctors who see it incidentally on a CT scan, which is how I was diagnosed. It is due to a dominant mutation – my father had it and one of my daughters does. Alone, a polycystic liver is rare, 1 to 9 cases for every 100,000 people, but can also accompany polycystic kidney disease, which is more common and serious.
Other single-gene diseases that affect the liver are cystic fibrosis, hemochromatosis (an iron overload condition), Wilson disease (copper overload), and alpha-1 antitrypsin deficiency (a form of emphysema).
Spina Bifida
Spina bifida is a type of neural tube defect that arises from incomplete closure of the backbone around neural tissue of the spinal cord. It’s associated with many genetic syndromes – Online Mendelian Inheritance in Man (the “bible” of genetic diseases) has 148 entries. Spina bifida affects about 1 in 1,000 newborns.
SIDS, Pregnancy, and Infant Loss
Infant deaths attributed to suffocation and strangulation in the US are on the rise, according to a just-published report. Older statistics indicate that 20 to 30 percent of infant deaths are due to genetic conditions. I suspect that proportion has increased with improved diagnosis thanks to newborn exome and genome sequencing.
World Days in October
A few organizations claim specific October dates. World Sight Day is October 11 and October 12 is World Arthritis Day. I have an autosomal dominant form of osteoarthritis – diagnosed at age 33, with the same gnarled hands as my mother and her mother.
Embedded in the monthlong pinkfest is Metastatic Breast Cancer Awareness Day, October 13th. That’s where I think the focus should be, to honor and raise funds to help “metavivors.”
To have breast cancer is to fear its spread: metastasis. Women with metastatic (stage 4) breast cancer can live many years in this period when the cancer can be treated but not cured. Six to ten percent of women with breast cancer already have metastatic disease when they are initially diagnosed.
I think that women (and, rarely, men) with metastatic breast cancer need help the most. Yes, initial screening is important. But who doesn’t already know about breast self exam and mammograms? See the Metastatic Breast Cancer Network.
Other causes with awareness campaigns this month are health literacy, healthy lungs, physical therapy, bullying, dental hygiene, medical libraries, domestic violence, ADHD, cerebral palsy, mental health and illness, depression screening, bone and joint health, infection prevention, stuttering, and psoriasis. Apologies to causes and organizations I’ve omitted.