XERODERMA PIGMENTOSUM (XP): The "No Sun Fun" Syndrome

Are vampires a myth? Do they really exist? or are they imaginary?
I used to watch vampire movies - and I still do. I saw movies about Van Helsing and Dracula, also followed the Twilight and Vampire Diaries series.

This one time as kids, my peers and I believed that one could become a vampire, if bitten by a bat. Crazy, right? Well, in our defense, they have fangs like vampires and also have the intriguing vampire attribute of not going in the sun. Did someone just say "not going in the sun?" Apart from the blood thirst of vampires, it is an interesting thing about them, though portrayed as a curse.
What if this curse is passed down to descendants? What if the blood lust is lost by evolution, mutation or simply by habituation and change of diet? What if they walk amongst us at night? What if they exist as our neighbours?
I don't think so, because I do not believe in vampires.

Everything was okay, until Temi turned 8. She was born in the U.S to a Canadian mother and a Nigerian father. Temi was a regular kid. She attended a public school, took drum lessons, had friends and did everything all normal kids do. That year like other years, she looked forward to summer camping. Though this time, she was going with her friend's family.

Few days to the end of the semester, Temi got really sick. She had sunburns and blistering skin. She was losing coordination and her hands were sore, she couldn't play her drums. Her parents took her to the hospital, but it was a little too late now. Mm-mm, it's not what you're thinking. Temi was diagnosed with XP.

Xeroderma Pigmentosum (XP): no sun fun

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Xeroderma pigmentosum also known as XP is a rare genetic condition. "It is a hereditary condition characterized by extreme sun sensitivity, leading to a very high risk of skin cancer." XP is caused by the mutation or alteration across at least 8 different genes in an individual. Now, that's a lot of mutation but, you must be wondering, how XP is inherited. I'll get to that, shortly.

XP affects one out of every 250,000 people worldwide - healthline

XP is autosomal reccessive, as a result it can be passed on from parents to offsprings for generations and probably go unnoticed in carriers.
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You would perhaps remember the Mendelian representation of single-factor inheritance patterns, through filial generations. Remember, that contained in every cell, are 2 copies of each gene present. Each parent bequeaths the offspring 1 copy of that gene i.e 1 copy from father; 1 copy from mother. Being autosomal recessive, an offspring cannot express XP traits unless both parents transmits 1 copy of the mutated gene each to the offspring. But, when only 1 copy of the mutated gene is transmitted from one parent to the offspring, the offspring becomes a carrier. At this point I'd reiterate, that people with XP are actual people with actual health challenges - despite their rarity.

What are The Symptoms of XP?

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People with XP have dire possibilities of developing different kinds of skin cancer. They have a high sensitivity to the sun UV light. Symptoms are mainly dermal and can progress to more complicated neurological conditions. Scientists have asserted, that symptoms typically show up during infancy, or within the first 3 years of life, while some persons start showing symptoms in late childhood or early adulthood.
XP is characterized by

" severe sunburn after only a few minutes in the sun, freckling in sun exposed areas, dry skin, and changes in skin pigmentation."

Complicating neurological conditions like poor intelectual activity, lack of nervous coordination, poor hearing and mal seizures might arise. Persons having XP could also develop cataracts and brain cancers.

Treatment of XP

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Sadly, the presence of XP suggests bye to times on the beach and hanging out with family and friends outdoors without proper covering. What's sadder, is the fact that XP has no treatment yet, according to experts. A good way though, is to avoid; going out in the sun and avoiding exposure to other sources of UV light. Wearing sunscreen, protective clothing and a regular use of vitamin D supplement is advised. Experts affirm that the use of retinoid creams could reduce the high risk of cancer.
As reported by cancer.net,

"Options exist for people interested in having a child when a prospective parent carries a gene mutation that increases the risk for this hereditary cancer syndrome. Preimplantation genetic diagnosis (PGD) is a medical procedure done in conjunction with in-vitro fertilization (IVF). It allows people who carry a specific known genetic mutation to reduce the likelihood that their children will inherit the condition. A woman’s eggs are removed and fertilized in a laboratory. When the embryos reach a certain size, 1 cell is removed and is tested for the hereditary condition in question. The parents can then choose to transfer embryos which do not have the mutation. PGD has been in use for over 2 decades, and it has been used for several hereditary cancer predisposition syndromes. However, this is a complex procedure with financial, physical, and emotional factors to consider before starting. For more information, talk with an assisted reproduction specialist at a fertility clinic."

Diagnosis

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Although symptoms can suggest presence of the condition, it's presence can only be verified through clinical genetic testings. "The clinical signs of XP vary widely, depending on the type of genetic mutations involved and the extent of sun exposure that a person with XP has had."

Closing Thought

In the society today, not a lot of persons attempt getting genetic counseling before marriage. Well, different individuals have different values. I am of the opinion that the promotion of the total well-being of an individual is a universal value. The awareness of rare genetic disorders is a necessity, as most of them do not have any known treatment, due to their rarity.
Thanks for sharing...until next time!!

For more information on XP, here are some REFERENCES:

Xeroderma pigmentosum from Wikipedia.org

Xeroderma Pigmentosum from cancer.net

Xeroderma Pigmentosum (XP): What You Need to Know from healthline.com

Image Sources
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