A few days ago my roommate and I were talking when her mother who is a nurse, called her.  She started explaining to us a very traumatic incident she had experienced earlier that day. (she is a NICU nurse).  A woman gave birth to twins.  The first twin, came out a perfectly normal child.  But to the nurses surprise the second baby came out with a severe skin disorder called. Harlequin Ichthyosis. 

This is a disease that is a “ severe genetic disorder that mainly affects the skin. Infants with this condition are born with very hard, thick skin covering most of their bodies. The skin forms large, diamond-shaped plates that are separated by deep cracks (fissures). These skin abnormalities affect the shape of the eyelids, nose, mouth, and ears, and limit movement of the arms and legs.” (Genetics Home Reference)

After looking up what this disease was my roommate and I were horrified.  The pictures on google are so disturbing and so sad.  We continued talking to her mother and she was completely in shock.  This has never happened at the hospital before (I cannot disclose the name of the hospital or the nurse) and all the nurses and the parents were traumatized.  After speaking to her mom we found out that unfortunately the baby did not survive very long after birth.  

According to the genetics home reference, this disease is very rare.  The skin on the newborn child will tighten which will make eating and breathing very difficult.  Along with that, the skin gets so tight that it actually turns the baby’s eyelids and their lips inside out. 

When I personally asked my friends mom about the experience this was her response “Many of the nurses were very upset. It was very difficult to get the image of that baby out of your mind-his eyes really haunted everyone because you could just see the pain in his eyes. It was very difficult for the nurses to care for the baby because every time you handled him it caused him pain. His extremities were all contracted so it made it difficult to position him. The OB that delivered the baby by C-section was very experienced and did not panic. The NICU team that attended the delivery were visibly upset because they had no idea how to handle/treat the baby. They hit the emergency button and another NICU team arrived. They were very concerned for the parents because this was completely unexpected. They brought the baby to the NICU and placed him in a plastic wrap that we use for extremely premature babies to keep their body heat in. We then had everyone gown, hat and glove to prevent any infection in the baby. Fortunately we had a very experienced neonatologist on who had treated 2 other babies with the same disease. Our priority was to get pain medication on board to help relieve the baby’s pain. The parents were told that the baby’s condition was fatal and they decided to remove life support. The parents with the support of their family were there when life support was removed and the baby passed quickly. The nurses talked amongst each other to help get through these tough times. We all knew that once the baby passed he would finally be pain free.”

I thought i’d blog about this because personally I have never heard of this disorder before and I figured as non science majors a bunch of you guys haven’t either.  Hopefully these parents can live a happy life with the twin that was delivered healthy!

http://www.shhirt.org.uk/sams-story/

Sources:

http://emedicine.medscape.com/article/1111503-treatment

http://emedicine.medscape.com/article/1111503-overview