Author Question: X-linked Disorders

Carol Asks:

I have a female character, about 20 years old, who was adopted in a closed adoption. Her biological mother now has a son. He’s likely in his teens but may be younger. I’m not really sure yet if it matters unless it affects the answer to this question.

The biological mother discovers that her son has some sort of disease that is carried by women but only affects men. The biological mother then seeks out seeks out my character. Bio mom didn’t know if the adopted child was a boy or a girl and wanted to let the child know that either she could be a carrier or he could be affected, depending on gender, of course.

Ideally, I’d like something that is sufficiently serious [not like… color blindness] to warrant seeking out the adopted child, but not deadly in childhood especially but also prefer it to be something that could go unnoticed until adulthood and then managed, even if not cured.

Does that make sense? Is there anything that fits the bill?

I found the wiki on X-linked chromosomes, but so much of it looks like Greek to me.

Jordyn Says:

You were off to a great start researching X-linked disorders. These are disorders carried on the X chromosome and therefore passed along from the mother to her child.  

I sat down with a doctor friend and we came up with two possibilities of X-linked disorders that would present later in life but are fairly serious enough to warrent a biological parent hunting them down.

They are:

1. McLeod Syndrome (this might be your best option).

As stated from the link: McLeod neuroacanthocytosis syndrome is a primarily neurological disorder that occurs almost exclusively in males. This disorder affects movement in many parts of the body. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). This condition is one of a group of disorders called neuroacanthocytoses that involve neurological problems and abnormal red blood cells.

The signs and symptoms of McLeod neuroacanthocytosis syndrome usually begin in mid-adulthood. Behavioral changes, such as lack of self-restraint, the inability to take care of oneself, anxiety, depression, and changes in personality may be the first signs of this condition. While these behavioral changes are typically not progressive, the movement problems and intellectual impairments that are characteristic of this condition tend to worsen with age.

2. XMEN Disease

XMEN Disease might take a while to diagnose and put you closer into the time frame of your question. It might be discovered after the child presents with frequent infections.

Hope this helps and good luck!

Genetic Haemochromatosis: The Silent Killer

Genetic Hemochromatosis (GH) is a hereditary disorder causing the body to retain the trace mineral iron over and above its requirements. Without iron we couldn’t survive – its instrumental in the transportation of oxygen around the body; but too much iron kill. As the body cannot expel excess iron, it deposits it around our organs — mainly in the liver, pancreas, heart, endocrine glands, and joints, where it turns into a poison.
The subject is close to my heart, having been diagnosed with Genetic Hemochromatosis 10 years ago. I decided to write a humorous spoof thriller to increase awareness, raise funds and bring humor; I believe laughter is the best medicine. ‘The Unexpected Consequences of Iron Overload,’ is a paranormal, romantic, spoof thriller, with 100% of profits being donated to the Hemochromatosis Society.
Jimmy has absorbed iron and is now magnet. After a significant event in which he saves Barbara, the woman of his dreams, from possible death Jimmy realises he can control his magnetism. His life is further complicated after coming to the attention of the KBG – they are interested in all things paranormal, and the CIA who are determined to stop the Russians. Sheila further complicates life for Jimmy. Her father is Irish though she was born in Australia. Unbeknownst to her she has Haemochromatosis and is magnetic but of course, from the Southern hemisphere her polarity is reversed. 
For a disorder that few have heard of, it is surprisingly common. In Europe an estimated one in 200 have the genes linked to it — that’s 3.7 million people.  The Hemochromatosis Society — a charity founded and chaired by Janet Fernau, MBE says “people are suffering from entirely preventable diseases and even facing premature death because of a lack of awareness and testing.” 
Left untreated, this insidious condition causes individuals to develop life-threatening illnesses like diabetes, liver cirrhosis, cancer, arthritis, and heart disease.  The treatment is simple and cheap. The only way to remove iron from the body is via the blood – venesection.  Every pint removed takes with it 200mg of iron and lowers ferritin levels by 25 as the body starts to use the excess stored iron to make new red blood cells.
Hemochromatosis Society – – has as host of resources for people who have the condition.
The preface to The Unexpected Consequences of iron overload is a good layman’s introduction to the subject. In addition, a list of worldwide support groups/resources are included in my book.


At age 52 James Minter was diagnosis with hemochromatosis. He is one of the lucky ones: he found out in time, and has no long-term organ damage. Researching the condition, he discovered there are millions of people who are carriers or have the disorder. The majority are unaware. The opportunity to stop unnecessary suffering is great. As a fiction writer in the humor genre, James wanted to use his creativity to bring hemochromatosis to the fore. He wrote The Unexpected Consequences of Iron Overload.  This is a light-hearted paranormal, romantic, spoof thriller with a serious message. Using the book he spends much of his time raising awareness of hemochromatosis via social media, blogging, presentations, press releases and radio interviews.

Congenital Insensitivy to Pain: A Real Medical Phenomenon

Recently, I went to a nursing conference and part of the two day adventure was a discussion of ethics. There are always plenty of ethical issues going on in medicine these days (the Jahi McMath Case and the case of the Texas woman kept on life support for her unborn child to name two recent news headliners.)

The nursing researcher was discussing how to identify ethical issues early on and had developed a research based tool to aid medical staff in, perhaps, not letting these things get out of proportion– say before the news media gets involved.

As part of her talk we answered questions about ethical scenarios. One scenario she presented was of a family whose child was admitted for pain of unknown origin and had frequent trips between the floor and the pediatric ICU for pain management. One question around this scenario was, “Unnecessary pain in children is the worst thing.”

I disagree with this statement. Pain is necessary. It signals us to stop doing something when it is harmful to our bodies– like touching a hot iron. Pain tells us, in differing degrees of severity, when we should seek medical attention. So, I think pain is good. What I would say is that “Uncontrolled pain in children is the worst thing.”

Yes, that I would agree with.

Parents with children who have congenital insensitivity to pain wish pain upon their children. Yes, you read that correctly. They understand the purpose of pain and how it ultimately protects the human organism. In fact, children with this disorder often harm themselves because they can’t feel pain such as gouging at their eyes to the point of injury. In this child’s story below– the parents talk about how, when she was a baby, they took her to an eye doctor and she had a large corneal abrasion and the infant never cried. That’s how they diagnosed her. I can attest– corneal abrasions (a scratch to the eyeball) are some of the most painful injuries there are and are one of the leading causes a crying, fussy infant is evaluated in the ER.

It is a rare, inherited autosomal recessive disease which means both parents have to be carriers and their offspring would have a 25% chance of fully expressing the disease. If you’re a carrier, you can pass it on but are not symptomatic.

Here’s one story about a family with a child with congenital insensitivity to pain.

So, no, pain is not always a bad thing.

Next post, I’ll review a novel where an author used this congenital disorder.