Saturday, February 24, 2024

Rare diseases - a shortlist of interesting articles

Interested in learning about rare genetic disorders? 

I've written on a few of them over at Medium in the last few months. You can find them in the Rare Disease section of the Maeflowers pub or click the links below.

First there was acrocephalosyndactyly type 1 - or Apert Syndrome. It's premature fusion of the bones caused by an autosomal dominant mutation.

Then I wrote about monosomy 9p, also known as Alfi's syndrome. And the rather recently recognized Loeys-Dietz syndrome.

Finally, in recent months, I've also written about the causes of Aicardi Syndrome, a rare genetic disorder that results in parts of the brain not properly forming.

Underside of the brain. Gray’s Anatomy. Public Domain.

Friday, August 18, 2023

A Commentary on Women's Health and Sexual Education for Adolescents

 This was originally published in Maeflowers on Medium Aug. 4, 2023


Women's Health Means Adolescents, Too

Preventing sexual health education leads to ignorance about bodies

This particular topic is one that seems academic but actually hits close to home. In this politically rife time of book banning and abstinence-only approaches to education crossing swords with hot-headed discussions about abortion, maternity care, and birth control, it seems we’ve completely lost the plot. Let me tell you a story…

Step back 30 years

Fifth grade was my first year in public school. I had gone to a small church-affiliated school up until that point. We had a very small library of approved books. I had advanced through the curricula for math and reading so I’d go to the older kids’ classrooms for those subjects. We had a full hour of “Religion” every morning and Chapel on Wednesdays. I had never heard of “Health class”. There were 3–5 kids in my class depending on which year it was. It seemed perfectly normal.

I transferred to public school and there were five classrooms of 20 kids each in my grade. We moved between remedial, normal, and gifted classrooms for different subjects and if you needed to be moved up or down you missed what you missed. It was chaotic and inefficient compared to where I had come from. But one day, early in that first semester, they divided the girls and boys into two different classrooms and gave a health presentation about our bodies. I learned about menstruation for the first time — I had my first period just a couple weeks later.

If it hadn’t been for that health presentation about my body in public school, I would’ve woken up one morning thinking I had been mauled in my sleep. As it was I was shocked that it was actually happening. How traumatic to not know what you’re own body is capable of!

I was staying at an older cousin’s house — so she had the supplies I needed and it was all normal to her. I thought I’d have to explain it to my mom because it had never been spoken of — instead she had a party waiting for me to welcome me to womanhood. I was mortified and so very very confused. If it’s such a huge thing, why didn’t I know about it?

The point

Too often we leave young people out of topics that affect them. Under a misguided attempt to shield some mythical concept of innocence, they are left vulnerable to fear, misinformation, and unintended consequences.

Everyone deserves to know about their body so they can make decisions about their health. Despite the stigma that sex ed introduces children to sex (a natural part of life they’re going to see, hear, talk about, and experience eventually anyway), such programs may be the only information an adolescent receives about a major event in their physiological (and psychological) development. Everyone should be armed with factual information about pain, bloating, mood swings, fertility, and cancer, among others.

Adolescents go through major changes, and sometimes they can lead to life-altering shifts. Menstruation should not be a mystical “welcome to womanhood” surprise. Pregnancy should not be a mystical “you’ll feel better once the baby comes” experience. Menopause should not be dismissed as the end of a woman’s worth or hysteria.

Just this year (2023), Washington, DC became the first education jurisdiction in the United States to have specific menstrual health education standards. The. First. Welcome to the 21st century.

Til death are you dismissed

It’s not just the young who are ignored. Last year, a clinician at the MayoClinic stepped up to start working on menopause awareness. Not only should women going through “the change” know what to expect and what needs a doctor’s keen eye, there are treatments to make the transition easier and help adjust risk. This is important not just for comfort, but for health and quality of life as the hormones that cause menstruation and menopause have varying associations with cancer. Birth control also plays a role in this risk, with newer versions (progesterone-based) offering protection against uterine cancer but potentially increasing breast cancer. Genetics likely plays a role, which means research is needed. But we’ve traditionally struggled to have female cohorts in studies, now we want them to focus on female-only disorders?! Yes, it’s going to be an uphill battle.

The North American Menopause Society can be a starting point for anyone looking for a doctor or treatment for their hormonal transition.

Sex ed is necessary

We need sex ed — the children need it. Right now, schools are the best way to reach a large swath of the population at the right age to ensure that puberty and its ramifications don’t surprise anyone. But I’d suggest classes in communities for adults as well. Maybe at hospitals, like the classes for expecting parents, only it’s basic anatomy and hygiene. “Human Body 101”. We all have a body, even as children. We need to learn how to live with it. Why it’s so shameful to recognize that is beyond me.

If you’re looking for more information, I highly recommend the books written by OB/GYN Dr. Jen Gunter, particularly The Vagina Bible and Menopause Manifesto.

Also see the statistics on the harm of abstinence-only education at the Guttmacher Institute and the School of Public Health at Columbia

Monday, August 14, 2023

The Gross Human Body

Gross: adjective, 1. indecent, obscene, horrifying. 2. the bulk or whole, e.g., gross anatomy

Are you interested in unique, weird, and fascinating facts about the human body? The Gross Human Body is a biweekly newsletter offering everything you didn't want to know.

On Mondays you have the word of the week (this week's is flatus!). On Thursdays is an informative post about some aspect of the human body - usually some sort of oddity or secretion. Occasionally there will be bonus posts of a news item of interest or factoid.

You can subscribe via Substack for free at

Thursday, August 4, 2022

HIV, genetic disease, and psilocybin E. Coli - Quora roundup

There have been some very interesting questions on the Maeflowers Quora in the last few weeks - the current trend is concerns about HIV and monkeypox, as well as the normal questions about inheriting diseases such as cancer and Alzheimer's. The most interesting questions though have been about a breakthrough in the production of psilocybin for mental health research.

 pPsilo16 E. coli

What are the effects of oral administration?

Could a human contract the bacteria?

Genetics and Alzheimer's

APOE4 and reducing the chances of developing Azheimer's

Loss of sense of smell in Alzheimer's? Isn't that like COVID?

What kind of diseases do gene therapy treat?


HIV testing

What's the testing protocol after PEP

How accurate is testing after PEP?

Monday, April 4, 2022

Congenital Anomalies of the Female Reproductive System

Congenital anomalies occur for a number of reasons. Approximately every 1 in 33 babies is born with some form of birth defect, ranging from mild and asymptomatic to life-threatening, and they can be either preventable (i.e. influenced by the mother and her environment) or heritable (i.e. genetic). The female reproductive system isn't spared from this possible outcome during fetal development, and there are several types of congenital anomalies that are seen in this biological system.

Birth defects

The differences between birth defects in males and females are most discernible in regards to the external genitalia by which we designate the baby's sex. Female is defined genetically based on the presence of two X chromosomes (genotype 46XX as opposed to male, 46XY), but the absence of male genitalia is considered an indicator of a female at birth. However, abnormal levels of male sex hormones during fetal development due to congenital adrenal hyperplasia, maternal treatment with progesterone, or a maternal hormone-producing tumor can caused alterations to occur in the external female genitalia (e.g., enlarged clitoris). Truly ambiguous external genitalia is referred to as pseudohemaphroditism or virilization. The physical condition is often corrected by surgery after genetic confirmation of sex.

Mullerian duct development. CC By-SA 4.0 Devinka98. Source

Mullerian anomalies

Defects of the vagina and uterus are called Mullerian anomalies based on their embryonic development from the Mullerian duct. The defects are usually not detected until puberty, when they cause pelvic pain, irregular menstruation, or other reproductive issues, because the ovaries and external genitalia are not affected. The most common defects are agenesis and hypoplasia, in which the tract or part of the tract (such as the vagina) does not form. Whether fertility is affected depends on the exact type and extent of the defect. Some can be surgically remedied to alleviate painful menstruation.

  • Unicornuate uterus: only half the uterus forms (banana-shaped). The condition is rare and often accompanied by kidney agenesis.
  • Uterus didelphys: double uterus, potentially including duplication of the vagina and cervix.
  • Bicornuate uterus: misshaped womb.
  • Septate uterus: a wall of tissue divides the uterus.
  • Diethylstilbestrol (DES)-related uterus: T-shaped uterus in the child due to maternal exposure to the drug DES; also increases risk of vaginal cancer.
  • Arcuate uterus: slight variation in the shape of the uterus, considered simply as a variation of the norm.

Other female reproductive tract defects

  • Cloacal abnormalities: The cloaca is the initial tube from which the rectum, urinary tract, and vagina form. Persisting late into development can result in a lack of the appropriate orifices, resulting in severe pain and gastrointestinal disruption, as well as the appearance of male genitalia.
  • Imperforate hymen: The vaginal opening is completely blocked, which is discovered when menstruation begins.
  • Abnormal ovaries: An extra ovary or extra tissue on the ovaries can occur, as well as ovotestes (presence of both male and female tissues).

Chromosomal abnormalities

When a baby is born with only one sex chromosome it is known as monosomy. X monosomy is referred to as Turner syndrome, or gonadal dysgenesis, and occurs in an estimated 1 of every 2000 live births. Sometimes the second X chromosome is only partially missing. Children born with this condition have swollen hands and feet, and sometimes a wide webbed neck. Puberty doesn't occur and the adolescent lacks secondary sex characteristics unless treated with estrogen. Children may also have a short stature unless treated with growth hormone. Menstruation is absent and an adult with Turner’s is infertile. The condition has a number of complications, including heart defects, autoimmune disorders (e.g., hashimoto’s thyroiditis and diabetes), arthritis, and cataracts.


Saturday, March 12, 2022

Saturday, February 26, 2022

Medical Exams You Should Schedule Now


Photo by Mockup Graphics on Unsplash

There are a number of medical conditions we'll all face as we age - arthritis, malnutrition, heart disease, cancer, cognitive and balance difficulties, depression - so it's important to stay up to date on your condition by visiting a doctor for regular exams. But there are also different tests and screenings you should remember to ask about.

  • Cholesterol and blood sugar checks

  • Cancer screenings

  • Dental exams

  • Eye exams

  • Prostate and breast exams

  • Gynecological exams 

Read more about these exams and why they're important on Maeflowers at Medium

You should also occasionally go over your prescription medications with your doctor to ensure they are doing what you need them to do. For example, if you've changed your diet, quit smoking, quit drinking, and lost weight, you may find it possible to decrease or discontinue prescriptions for lipids or hypertension. (Only do this under advisement from your doctor based on exam and blood results.)

Another question to ask your doctor is whether you're up to date on vaccinations. Most offices follow the CDC schedule. In particular, tetanus is repeated every 10 years, influenza every year, and the hepatitis series is new in the last 10-20 years. In addition, according to the CDC< all adults over a certain age should be tested for HepC at least once.

Screening allows early treatment, which results in better outcomes!