Evan’s diagnosis was given 2 days before his birth by using 3D and 4D ultrasounds. We had suspicious ultrasounds starting at 27 weeks which the experts at Yale were monitoring. Evan was born during an emergency cesarean section and it became very obvious that his diagnosis was, Harlequin Ichthyosis.
It was a very intense feeling not knowing anything about his condition. Luckily we were fortunate enough to have Yale Dermatologists that are experts on Ichthyosis. Even though his birth was an emergency situation, the doctors and nurses knew to be expecting a Harlequin fetus and had the appropriate care ‘waiting’ for him. Evan spent 58 days in the NICU where he received superior care.
As a preemie he faced many challenges in addition to his skin condition. He is very behind developmentally. He is now in Kindergarten and also receives physical, occupational and speech therapies. Being a part of a classroom has helped his social skills greatly and he just loves being around other children. He has made an enormous amount of progress thanks to these intensive therapies, school and the work we do at home. He is the happiest boy who is now a big brother and we are very optimistic for his future.
Now, Evan is a very happy, content child. He puts up with a very strict, meticulous skin regimen which is necessary to prevent infections, fissures, thick scaling and for his ultimate comfort. He gets two 40-60 minute baths a day to moisturize his skin and to exfoliate scale. Evan is constantly having Aquaphor applied to his skin in order to add and hold the moisture in and to avoid cracking or fissures from occurring. He receives frequent eye drops and eye ointment when he sleeps since his eyes do not always close. We regularly see an ENT to clean out the skin debris in his ear canals.