Unsettling News

I got a phone call today from the receptionist from the Metabolic Clinic at OHSU in Portland. She was calling to schedule an appt for Kenzie and Lexie with their doctor. I was completely alarmed when I heard the voicemail and immediately burst into tears. I haven't heard from our doctor yet as to whether or not the girls even have VLCAD Deficiency and now I have a specialist in Portland calling ME???!!! I called back and of course, they have no information for me, just that our pediatrician has been in contact with their specialist and she was told to squeeze us in April 7th when the doctor is in Medford doing a clinic. So, do my girls have this rare deficiency or what?

I called their pediatrician who doesn't work on Mondays, and the nurse called me back. She said she didn't see any results to their blood work in the girls' charts. She said she would look into it more and call me back. Not too much longer and the doctor called me herself. She said that the blood results haven't come back yet, but the specialist is pretty certain that both girls really do have this deficiency and he wanted to schedule an appt for us as soon as possible. She said that she thinks it is a mild case, but we won't really know how severe it is until the results come back and the specialist can make a determination of their condition. Basically, this is a deficiency where their bodies can't make fatty acids. Meaning, they can't fast. Right now, they cannot go more than 5 hours without eating. If they go too long without eating, their glucose levels can drop and they can get really sick. It can cause liver or heart damage if left untreated. If one parent is a carrier of this chromosome, your child has a 1 in 4 chance of getting this deficiency, so how in the world did I get 2 with it! We are praying that it is very mild (or that the initial test results are wrong!) and that we will be able to give them a supplement to help their bodies make what they need in order to stay healthy.

If they do end up having this deficiency, it will be something that we will always be learning about and monitoring. As they get older, we will have to monitor their diets and make sure that they don't go to long without eating. Hopefully the final results will be in by our appt with the specialist and he can tell us exactly what their condition is and what we need to do to keep them healthy. We will need to maintain a relationship with him so that as they get older, we know what we need to do.

Please pray that the initial results were just an error!