Birth and Diagnosis

Evie was born on Feb 6, 2010. She was almost 8 weeks early. I went in on Thursday Feb 4 for a routine office visit. I remember I was excited because I was supposed to get our last ultrasound done and I was anxious to find out if she was really a girl!!

I went in to the US room and they told me she was slightly underweight. It shouldn't be a big deal, we would just have to watch it. I then walked down the hall, to an exam room, and if you have had a baby, you know, they always check your Blood Pressure. Well, I knew something was wrong when the nurse took it, the said well, I'll be right back. She came back 5 min later and took it again. I don't think there was any change cause she said hang on I'm going to ge the Dr. So at this point in the visit, I was pretty nervous. Dr Tynes walked in checked it, then proceeded to have about 3 other people check it with different cuffs. It was then when she told me that I was not going back to work, but rather I was going to be admitted into the hospital for several tests. She was hoping I would be on bedrest for the remainder of the pregnancy. She consulted with another Dr, who told me I would probably have to deliever on Sat! Apparantly I suffered from the HELLP syndrome (common in LCHAD babies mothers). My liver enzymes were high, I was on the verge of renal failure, not to mention the hypertension (high blood pressure). Essentially, Evie could not grow anymore, and I could not survive with her still inside me. We were killing each other.

They gave me 2 days to keep her cooking. They gave me 2 shots of steroids in hopes that her lungs would develop more quickly. Saturday came and sure enough they wheeled me into the OR, where she was born at 8:16 am, 3lbs 5oz, 16 1/2 in long. We were told that she could possibly have Downs Syndrome, so my first question was "is she ok?" Of course she was perfect.

She stayed in the NICU for 5 weeks. It was here after about 2 weeks, that the results of the most important test in her little life, came back elevated for LCHAD. This is a fatty oxidation disorder, meaning she has problems digesting certain fats. Hers are long chain fats. Long Chain fats consist of most oils, butters, anything fried, etc. See, we all carry the gene for LCHAD. This specific gene helps in the digestion/absorption of fats. Hers is either mutated, or simply not there at all.

She will be on a specialized diet for the rest of her life. I was concerned because for 2 weeks we were trying to breastfeed and it was not going the best. My milk took FOREVER to come in and when it did, I was not getting enough to sustain her. I was worried though because I knew breastmilk for an LCHAD baby was not good. The fat could build up around her heart and eyes. We quickly changed formulas to one that is special and has to be ordered, Portagen. She is still on this and every week or so I have to call a Dietitian to give her Evie's weight and then we change the recipe according to how much she weighs.

When she gets older, we will be able to give her more fats, but still only about 5-10 grams a day. If you look at fat labels, this amount is not much. This includes everything she will eat in the course of the day.

I hope this helps you to understand the significance for Newborn Screening. The Drs say, that SIDS is ultimately the cause for undiagnosed FOD's.

There is a wonderful website you can look at that has several different Fatty Oxidation Disorders (FOD's) www.fodsupport.org This is a great resource for learning to deal with FOD's on a daily basis. They provide recipes and support for families living with FODs all over the world.