Holoprosencephaly

Well I thought I would take the time to clear up some questions about Eva’s condition, Holoprosencephaly or HPE. 

Recently my sister-in-law, who is on a mission, wrote and asked me very basic questions about Eva and her condition and how it affects us caring for her, and I thought maybe others have the same questions.  So I’ll start from her beginning outside the womb and what we learned about caring for her.

Eva was born on 1/28/2009 at UVRMC here in Provo.  She weighed a very healthy 7lbs 8oz and measured 18inches long.  She was born with a cleft lip (no cleft pallate) and a flattened nose with a single nostril, she has relatively close set eyes; these are facial indicators of Alobar Holoprosencephaly.  Alobar is the most severe of the defect and is considered terminal.  She however, was born with healthy lungs, heart and other organs.  She feeds through a feeding tube that goes down her throat to her stomache; she does have the feeding tube in pretty much all the time except for during baths and she occasionlly pulls it out.  Due to her condition Eva has a problem regulating her body tempature so she does get fevers frequently.  She also gets seizures on a daily basis, we don’t quite know if they are directly related to the fevers or if they are independent.  We do give her medication to help with the fevers and we have some medication that we give her to help calm her during her seizures.  Now in regards to her seizures, they are frequent and not exactly like one an adult would experience.  She does throw her head back and her body stiffens but she doesn’t go into violent body shaking.  She does, however, have involutary body movement that looks like what some one with a tick or terets might have.

Her baby side: she has regularly feedings, every 3 hours.  She has regular bowel movements and dirtys on an average about 10-12 diapers a day.  She has little baby fits and she fusses just like a newborn.  Eva hates, I mean hates a dirty diaper.  Because she does a lot of breathing through her mouth and in conjunction with her cleft lip, she gets dry mouth and nose and so we use saline drops to help give her some moisture in her nose and we have some swabs to moisten her mouth.  She still is adjusting to day and night, some days she’s great and gets up during the day and will have good nights of sleep but sometimes she is up for a good portion of the night and well mommy or daddy are right there with her.  She is gaining weight on average; she is growing in length on average.  Her head is growing at a slower pace then other babies but that seems to be related to the condition.  She seems for the time being to know our voices and recognize us when we are near her, she will turn to the sound of our voice.

By all means we were given a normal child with a special condition.  As each week presses on we see her grow, we do see a bit of her personality.  However, as the seizures start to become more frequent things may change and we may begin to see less and less of that personalilty, it is something our hospice nurse has warned us about.  It does make me sad to think, she may get to the point of not knowing who we are, but Jose and I have great faith that in our reunion later in eternity that she will no doubt know us!

Caring for her is, I believe, not unlike caring for any other newborn.  We have some extras but it seems that even those who have children with no special condition, have some extra things.  Sometimes it’s because of their lifestyle or personal situation.  Jose and I are very fortunate to have so much support, in regards to Eva and her condition, our nurse, Margaret, our social worker Dave, they all gently guide us along our way, with encouragement and love.  It just makes us feel like we are doing the right things for our baby.

Los Pena