Arrington's 2 week appointment was on March 9th. She was a healthy 7 lbs. 4 oz. ( 20%) height 20 5/8 (50%) and head circumference 33.9 (10%). Yes, our little one has a tiny head :). She did great, but hated the newborn screening test.
We have actually been through some tough times lately with the newborn screening test. Her first one from the hospital came back borderline at 228, and at first they were saying it was for cystic fibrosis, which I knew could not be right because I had tested negative for that when I was pregnant. Once we actually had the document in our hands it said she was borderline for a metabolic disorder. So we redid her newborn screening test, and prayed nothing serious was wrong. That test came back at 277, which was not a good sign. We had to go to a metabolic specialist, and speak to a diatician, genetic doctor and metabolic specialist. They explained to us that Arrington has what is called Mild HyperPhe, which is short for Hyperphenylalaninemia. This term can be broken down into three parts. Hyper means high. Phenylalanine (Phe) is an amino acid (a part of protein) found in food. Amino acids are building blocks for body growth and repair. Emia refers to the blood. I am going to explain what Hyperphe is exactly because we have had a lot of questions from people and it's kinda hard to explain.
Mild hyperphe is an inherited condition. It happends when a person's body cannot use Phe in the right way. When a person eats food with protein, enzymes help start chemical reactions in the body. When an enzyme in the liver that breaks down Phe does not work properly, it causes mildly higher levels of Phe in the blood.
There are no known problems for a child with mild hyperphe, so a special diet is not usually needed during childhood unless there levels go above 360. If her levels do go above 360 then we will have to take some proteins out of her diet.
We redid Arrington PKU test at the doctor and her results actually came back lower at 242! Thank you God!
HyperPhe is passed from parents through special genes. Genes come in twos. One gene is inherited from the mother and one from the father. A person who has one normal gene and one mild hyperphe gene is called a carrier. Mild hyperphe is inherited when both parents are carriers and both pass a mile hyperphe gene to their child. Mild hyperphe occurs in about 1 in 20,000 births. Since Ben in and both carry the mutated gene there is a one in four chance with each birth.
We will be watching Arrington's blood levels every month. Most parents are asked to take their child's blood from a heel prick and squeeze to fill the dots with blood. Thank goodness our pediatrician offered to do this for us each month, because Ben and I could not fathom having to do this to our sweet angel. She screams so loud and it breaks our hearts. Her blood levels and diet will be checked each month to make sure her Phe level is kept between 120-360. When she begins to eat solid foods, our pediatrician will also order a blood test. Another blood test will be done as she moves on to table foods. The doctors are not sure how long we will have to take her blood monthly. But, if her levels stay low they will monitor her blood levels less. Eventually we hope that as she gets older she will only have to have them taken once a year at her yearly checkup.
So, this is one reason I have not been blogging lately. We were so busy with a newborn and then all this going on. I feel like we have been to some sort of doctor each week. I was so happy though to hear that this would not affect our little girl and that she will live a happy and healthy life. Please keep Arrington in your prayers and that h
er Phe levels stay low.
