Four Unusual Medical Conditions that Only Affect Women

According to the FDA’s Orphan Drug Act, a disease is considered rare and unusual if it affects less than 200,000 people. There are over 7,000 known rare diseases in the country. Most of which are life-threatening and have no cure or treatment (for now). It is hard to understand how to treat these unusual conditions. Their very rareness and the limited number of people who have it is exactly why it’s difficult to study and know more about it.

That’s why there are recruitments for patients with rare diseases being conducted. Researchers need as many recruits as possible (both patients and caregivers who have worked with those with rare diseases) so that they can get more information on these diseases and be able to find a good treatment for it someday. That said, here are some rare medical conditions that only or mainly affect women:

  1. Fowler’s Syndrome

This condition was first identified in 1985. It is a rare condition that makes you unable to pee. This condition mainly affects women between the ages of 20 to 30 years old. The odd thing about this condition is you rarely have any other symptoms aside from stomach pain and back pain. And only some patients with this condition show symptoms of these pains.

You cannot pee and an inability to recognize when your bladder is full. This is caused by your urethral sphincter’s failure to relax. Because there are no visible symptoms and rare pain sensations, it’s tough to diagnose whether you have Fowler’s syndrome. This condition’s real cause is still unknown, but it usually occurs after some surgical operation or after giving birth.

  1. Rett Syndrome

This progressive neurodevelopmental disorder was labeled in the 1960s and was named after the physician who discovered it, Andreas Rett. This condition almost only affects females. I say almost because there are exceedingly rare occasions that males also develop this condition. This is caused by a mutation in the MECP2 gene on the X chromosome and can be identified as early as seven to 18 months after birth. Depending on the location, type, and severity of this gene mutation, two children with the same condition could have hugely different appearances. This disease, however, is not hereditary.

Some symptoms of this disease can be mild or very severe, and it happens in stages. Not all children diagnosed with this condition will show the same set of symptoms. The symptoms usually don’t appear until six months of age. Babies continue to grow normally from childbirth to six months after. The earliest symptom of this condition is when the baby has an incredibly low cry and low muscle tone. Development is also delayed. As they get older, the symptoms get worse as well. Eighty-five to 90% of affected patients may experience growth failure.

Woman wearing a face mask

  1. Turner Syndrome

This condition only affects females and is caused by the partial or complete loss of the X chromosome. This was named after Henry Turner, one of the first doctors to report the condition in 1938. Although it is considered a rare disease, it is the most common chromosomal and genetic disorder found in females. One in 2000 to 2500 live female births are affected by this condition. More than 70,000 girls in America have Turner Syndrome.

Much like the previous condition, the severity and the symptoms of this condition vary from person to person. It can be subtle and develop slowly over time. Severe cases of Turner Syndrome can be observed physically. Some cases of this disease result in stunted growth, a short neck, low-set ears, and narrow fingernails and toenails that point upward. The organs such as the heart, kidney, and liver may also be affected by the condition. It could also cause thyroid problems, specifically hypothyroidism.

  1. Ahumada-Del Castillo Syndrome

This condition is not as severe as the previously mentioned conditions, but it is still a curious condition. This condition causes women to produce milk even if they haven’t given birth. The cause is still unknown, but some research suggests that microscopic tumors might cause it in the pituitary or hypothalamus glands. It might even be caused by hypothyroidism. Aside from lactating, you also don’t get your period due to an ovulation. Which also means you can’t get pregnant. It usually begins in adulthood.

There are thousands of other rare diseases out there. If you are curious to know more or are concerned, you can visit the National Organization for Rare Disorders’ website at Just remember, don’t try to self-diagnose yourself because self-diagnosing may cause unnecessary panic, and we don’t need any more stress with everything that’s going on right now. If you feel concerned, seek a professional.

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