Dear Dr.

MadJack Jackson,
Normally I would comment on what an unusual name you have, but I find I havent been
myself lately. You see, Ive been informed that my child has Harlequin Ichthyosis. I never saw
her the day she was born, but I knew something was wrong. When my baby was born, the
doctors took her away. I didnt even get a chance to touch her. I have never touched her, and
yet, I still love her more than anyone could love someone. (1) Harlequin Ichthyosis is inherited
genetically through an autosomal recessive pattern. That means I gave this disorder to my child.
I caused her pain and suffering. How could this have happened? The doctors say this disease is
very rare. If its so rare, why did it happen to me and my child? This kind of thing I thought
would never happen to me. My ABCA12 gene is mutated and so was my husbands. Out of all
our genes, this gene had to be mutated and be recessive. Why? What did I do to deserve this?
My daughter obviously did nothing, she was just born! Its my fault, I did something to cause
this. Now this mutated, recessive gene is in my daughter. This gene is responsible for making
ABCA12 proteins that help make the normal development of skin cells. Who knew one gene
could be so important? One gene can change everything. I find it unfair that one gene can
change the life of someone completely. Some mutations in the gene result in either abnormally
small proteins that cannot transport fats or no production of the proteins. My daughter has no
production of the proteins. (2) All because of this gene, my daughter was born with thick, offcolored white, moist skin with deep cracks in a diamond pattern. Her facial appearance is
distorted with outward facing lips and eyelids. Her external ears are absent and she has no hair
and nails. Due to her restricted blood flow, her toes are malformed and she has restricted
mobility in her arms and legs. Even after all this, I still think shes beautiful, but I know no one
else will. Even her dad said she looked gross or abnormal, but I look at her and I see someone

who is strong. Someone who is strong, will always be beautiful to me. Kids will make fun of
her and shell have a hard life because of me. Most parents only have to worry about the name
of a child when it comes to bullying, but some arent that lucky. They dont know how lucky
they are. I thought I was lucky to get pregnant, only to find that I am one of the most unlucky
people on the planet. She may grow up with a short stature, kidney, lungs, and/or central
nervous system problems. She might not grow up at all. (3) So far the main treatment is
monitoring her. Wow, thats the best you can do? Monitor her! Im sorry, but I think that if
youre a doctor, you should be able to help my child. The doctors are doing a lot though. They
said the main concerns were temperature control, dehydration, malnutrition, and infection.
Thats a lot of concerns. To control her temperature, they put my baby in an incubator right after
she was born. Twice a day, they take her out for a sponge bathe, apply a skin moisturizer with
the drug etretinate in it, and give her antibodies to help with dehydration. Medications like
Tazarotene are given to help with pain. She cant even feed from me; she has to be given an IV
for food, water, and antibodies to help with the prevention of malnutrition. They say one of the
main steps to becoming a mom is breastfeeding; I guess Ill never experience something so
natural. Most Harlequin Ichthyosis babies are born prematurely including mine. She has to be
placed under a breathing tube to help with breathing problems. (4) Harlequin Ichthyosis is
diagnosed about seven births annually in the United States. ONLY SEVEN PER YEAR! Its so
rare its uncanny. Why did this happen to me and my poor baby? What did I ever do to deserve
this? All I wanted was to have a healthy baby. I guess thats to much to ask. I dont want my
baby to grow up unhappy. I want her to be happy and live a normal life. I cant have that all
because of me. I caused this. (5) She might not even make it. Whats the point of life if
someone can die so young? That might be my babys case. The disease is fatal and most cases

the baby dies before passing the newborn stage. Even if she dies this young, shes already made
such an impact. She made an impact on my husbands life. He died while serving his country
and thinking about his baby girl. I dont know what Ill do if she doesnt make it. I dont have
my husband to lean on. I cant lose her. If she can make such an impact now, just think what
and impact shell make if she lives. I see her conquering the world and making a difference, but
that might not happen. (6) There are only 100 known cases in the world, so its not like I can talk
to someone that understands. No one understands what Im going through. No one understands
what shes going through, not even me. She has the most severe case of Ichthyosis. The term
Harlequin derives from the diamond shape pattern in her skin and her facial expression when she
was born. Her mouth is pulled wide to mimic a smile. A smile? What a cruel joke. She is so
strong that even through all this pain, she puts a mask on to make everyone else feel better.
Every time, I look at that smile, the most beautiful smile in the world, it makes me smile, and
then cry because I know its fake. I know that she is mimicking that smile to make me feel
better. Shes so tiny, and yet, she already does the sweetest things. Just think of what she could
do in the future. The future there might not be a future for her. There have been some
improvements on this case because Harlequin Ichthyosis use to be 100% fatal, but now there is a
chance. Theres a chance she can make it. Thats all I want. A chance for her to experience life
and all the beautiful moments it has to offer. This recent event has caused me to think life is a
piece of crap, but I know that she is a positive person. My baby would look out onto the world
and see all the good in it if she had a chance. (7) The disease is so rare, that no research is being
done to help save my little girl. Ive read about some survivors, they made it with luck. Thats
all there is for my baby, luck. Thats all thats being done to save her. Im not the doctor here,
you are! So please, do your job and come up with a way to save my girl. I did all the research

you were to lazy to do, now you have to save her. I cant make it without her. I need her. She
needs to be in this world. Ive looked everywhere for treatment options, but I cant find any. I
need some luck. I need your constant monitoring over my baby and your brain to come up with
a solution if she has any possible fatal problems. Please, I just need someone to be there with
me. I dont want to face what could happen to her alone. She is such an amazing human being,
for her to be taken out of the world would be a crime. Maybe I need you to have someone to
blame other than myself. What I really need is her, and for that to happen I need you to help her.
Sincerely,
Rachel Moranty

Works Cited

"Harlequin Ichthyosis." Genetics Home Reference. N.p., 7 Mar. 2016. Web.

10 Mar. 2016.
"Harlequin Ichthyosis Treatment & Management." Harlequin Ichthyosis
Treatment & Management: Medical Care, Consultations. WebMD LLC,
27 Mar. 2014. Web. 11 Mar. 2016.
"Ichthyosis, Harlequin Type - NORD (National Organization for Rare
Disorders)." NORD National Organization for Rare Disorders Ichthyosis
Harlequin Type Comments. NORD, n.d. Web. 11 Mar. 2016.
"Harlequin Ichthyosis." : Background, Pathophysiology, Epidemiology.
WebMD LLC, 27 Mar. 2014. Web. 11 Mar. 2016.
Knutel, Terri A. "Harlequin Fetus." The Gale Encyclopedia of Genetic Disorders. Ed. Brigham
Narins. 2nd ed. Vol. 1. Detroit: Gale, 2005. 579-581. Gale Virtual Reference
Library. Web. 14 Mar. 2016.
http://go.galegroup.com/ps/i.do?id=GALE
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