Harlequin Ichthyosis

Harlequin Ichthyosis

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  • So, is there something wrong with my baby doctor?
  • Unfortunately yes, I believe that your child may have Harlequin Ichthyosis. There's no way to be completely sure at this stage in your pregnancy but I have good reason to believe that your child may have this potentially life threatening condition.
  • How does something like this happen? What it something I did? I admit I wasn't eating as healthy as I could have been at the beginning of the pregnancy.
  • No, it's nothing you did. This is a genetic disorder in which there are mutations in the ABCA12 gene which is responsible for the development of normal skin.
  • That's the crazy part about this disease, sometimes one of the parents has never been affected by the disease themselves maybe your partner carries the gene and wasn't aware. All we can do now is watch the baby very closely and when it arrives keep it on a round of steroids at all times.
  • Wow, I never even knew that I carried that gene none of my other family members have had this condition. What are the next steps?
  • Ok, thank you doctor.
  • You're welcome, we will make sure that your baby is as healthy as possible.
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