I received some pictures of a baby in my phone sent by a friend some months back. My first reaction was of utmost compassion and deep concern about how the baby was doing.I frantically called my friend to know the whereabouts of the baby as I was desperate to reach out to both the child and his parents, knowing that a rare,complicated condition like this called for prompt management on part of the caregivers (hospital/home) and also utmost counselling especially to the parents - the baby had congenital Harlequin Ichthyosis, a very rare genetic skin disorder.......... After many phone calls here and there, I could finally get the contact number of the mother (she was living in one of our ‘good’ district HQ, at the other end of the State, from where I was ). My heart went out to her as she narrated to me the hospital scenario, the baby’s condition then and also how her husband was away for duty. She wanted to bring the baby and we talked about how to best manage him now at home and what steps we could take once here...Two strangers, two mothers from completely different backgrounds, but so emotionally connected by the fact that we both nursed an Ichthyosis affected baby. She knew what I was talking about and I simply understood her silence....The next day, i came to know that the baby lost his fight to survive................
What prompted me to share this today and to do an awareness write-up about HI is to make us all realise that no matter how rare the condition is, it is very much here in Nagaland too and we need to accept that fact and be ready to address it with care and grace if we do come across it one fine day.
Secondly, the whole attitude of the people who witnessed the birth/baby was too much to take. As a human, as a Christian and yes, as a mother it broke my heart to hear about the comments some ‘raw’ ‘rude’, insensitive people made about a baby : I was stunned to know that remarks like that can be made by a sane person..and wondered whether they would even dream to make such crude statements if the coin was tossed and they were in the mother’s place...
In order to understand HI better, lets have a quick recap of Ichthyosis first.
Ichthyoses comprises of a group of 30 related rare genetic skin disorders whose primary characteristics include dry,thickened and scaly skin, blisters and peels in certain forms. The extend to which the skin is involved and the differences in outward presentation differs since there is multiplicity of genes involved in Ichthyosis. It ranges from involving the entire body in some while in some the face and body folds are spared.
Ichthyosis is NOT contagious!!!It is caused by a genetic mutation/alteration of genes that make up the skin.
Ichthyosis affects people of all ages,races and gender.There is no cure for ichthyosis as of now, treatment consists of managing the symptoms. Most treatment is aimed at keeping the skin moist. In severe cases, medication may be prescribed under constant monitoring.
Ichthyosis may be inherited genetically or acquired due to underlying systemic diseases
Harlequin Ichthyosis:
Harlequin Ichthyosis(HI) is an autosomal recessive genetic skin disorder of rare incidence.In other words, in order to express (show) the disorder, individuals must inherit two recessive genes, one from each parent, but the parents ("carriers") show no signs. It is an extremely rare form of Ichthyosis and is the most severe. Affected babies are usually born prematurely and are small for dates. The skin is covered in tight, thick, diamond shaped plates of hard scale. Due to the tightness of the skin it splits at several areas causing deep cracks and giving the face a stretched look with turned out lips and eyelids.
The chest and abdomen of the infant may be severely restricted by the tightness of the skin, making eating and breathing difficult. These infants are also at high risk for infection, low body temperature and dehydration due to the skin make-up. Constriction and swelling of the mouth may interfere with the suck response and may need tube feeding.The hands and feet may be small, swollen, and partially flexed. The ears may appear to be misshapen or missing, but are really fused to the head by the thick skin. Harlequin infants need to be cared for in the neonatal intensive care unit immediately after birth.
Management is a challenge since the skin condition make i.v access ( opt for blood vessels in the umbilical cord) and placing of electrodes for monitoring pretty difficult.
The baby's corneas need to be lubricated and protected if the eyelids are forced open by the tightness of the skin. A high humidity environment in a heated incubator is necessary to help maintain body temperature and a meticulous ongoing skin care regimen to keep the skin moisturized and pliable are absolute necessary to prevent the skin from further cracking and thereby increase the risk of infections. Administration of a oral Retinoids may accelerate shedding of the thick scales. Most harlequin infants will need one-on-one nursing care for the first several weeks of life. Physical development may be delayed due to the enormous calorie needs their skin function demands
In the past, harlequin infants rarely survived the first few days of life. However, with recent advances in neonatal care and perhaps with the administration of systemic etretinate, harlequin infants can survive. Several surviving children with harlequin ichthyosis are now young adults.There are also documented cases where HI adult females give birth to healthy,normal babies and lead a family life.
For further information on HI and other variants of Ichthyosis , log on to www.firstskinfoundation.com.
Life is how we see it, how we strive to live it and the extend to which we are prepared to go to make each day more pleasing. But again ,for those who have certain ‘differences’ physically/mentally ,whether by birth or acquired thereafter, each day becomes more ‘bearable’/each attempt to do something become more doable if only we so called ‘NORMAL’ people reach out and search beyond what the eyes see.....Life is so much more than that. As the old adage goes, “ Live & Let Live” !!!Please..
Dr.Victoria Seb Khing
Dimapur, Nagaland
(member of FIRST foundation, PA)
Open to any queries/feedback : drvictoria_222@rediffmail.com
