A month after Lily was born, we attended our first Illinois PKU Yearly Meeting. It was a big deal. The meeting was held at an extremely nice country club near Chicago. I'd never been to a country club and I was impressed as we drove up the drive that was surrounded by perfectly manicured trees and shrubs. It was almost like another world. Ryan and I were introduced to quite a few people and I seemed to relax a little. The other families were telling us how great their kids were doing on diet. I also had the opportunity to meet a few adults living with PKU. They had families, jobs, and were living a perfectly "normal" life.
Then the first speaker started his speech. Within the first few minutes the speaker told us all of the terrible things that can happen to people with PKU- brain damage, mental impairment, ADHD symptoms, depression, etc. My heart just sank. I looked at Ryan and we both looked down at our precious Lily, only 3 weeks old. That's when I just knew that those things were never going to happen to our little girl.
There are not that many people who have PKU in the United States. Approximately 14,500 people in the United States have PKU. Of that 14,500 people, 5,500 of them were not diagnosed at birth. Those 5,500 were not started on a proper diet immediately and are now living in dependent group homes or mental institutions! There's also an unknown number of people who had PKU but it was never diagnosed, because they were born well before the newborn testing. Most of these undiagnosed people were just labeled "Mentally Retarded".
It wasn't until 1958 that the first simple PKU test was created. Robert Guthrie found a way to easily check the level of proteins through a simple blood drop. It was much easier and less expensive than earlier methods. Then in 1966, hospitals began testing all newborns with the Guthrie test at 24 hours after birth. Finally there was a way to test for PKU and administer treatment immediately. Remember, with an appropriate low protein diet, PKU can easily be managed and people can live a "normal" life.
Newborn screening may have begun with PKU, but it's about so much more. Eventually more disorders were added to the newborn screening. Each year more than 4 million children in the United States are screened at birth for congenital diseases and disorders! And of those babies, more than 5,000 are saved through early detection of their disorders and diseases.
So what exactly is tested in the newborn screening? To be honest, most of them I had never heard of. But I know that newborn screening saved the life of my Lily and Thomas. Without the newborn screening, we would never have known that they had PKU and wouldn't have started them on a low protein diet. They wouldn't have met their monthly development goals and would be labeled as having mental retardation. Yes, mental retardation is the medical term that my children would have, if it wasn't for newborn screening.
So, when your child comes back into your hospital room with a little band aid on their heal after 24 hours of birth. Be thankful that newborn screening exists in our country. Because there are still many countries around the world who do not offer newborn screening or have it as an option. Newborn screening should never be an option. It is essential in the livelihood of our future. A simple heel prick and drop of blood on filter paper can change the future of every child.
Here's the current listing of disorders that can be checked during newborn screening in the United States. Please note that not all states check for all disorders! Currently Illinois (my state) tests for 31 disorders during the newborn screening. Most states only check for 10 of the top disorders. The main reason- money! Isn't money always the problem? The machine that administers the tests costs around $400,000. For a list of what your state tests for, please check out the
March of Dimes website. For a list of international newborn screening, please check the
International Newborn Screening and Global Resource Center's website.
*Amino Acid Metabolism Disorders:
1. Arginosuccinic Acidemia
2. Citrullinemia
3. Homocystinuria
4. Maple Syrup Urine Disease
5. Phenylketonuria (PKU)
6. Tyrosinemia Type I
*Biotinidase Deficiency
*Congenital Adrenal Hyperplasia
*Cystic Fibrosis
*Fatty Acid Metabolism Disorders
1. Carnitine Uptake Deficiency
2. Long-Chain L-3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3. Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
4. Trifunctional Protein Deficiency
5. Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)
*Galactosemia
*Glucose-6-Phosphate Dehyrogenase Deficiency (G6PD)
*Human Immunodefiiciency Disease (HIV)
*Organic Acid Metabolism Disorders:
1. 3-Hydroxy-3-Methylglutaric Aciduria (HMG)
2. 3-Methylcrotonyl-CoA- Carboxylase Deficiency (3MCC)
3. Beta Ketothiolase Deficiency
4. Glutaric Acidemia Type I
5. Isovaleric Acidemia
6. Methylmalonic Acidemia
7. Multiple Carboxylase Deficiency (MCD)
8. Propionic Acidemia
*Sicle Cell Disease and other hemoglobinopathy disorders and traits
*Toxoplasmosis
Here in Illinois, our medical formula is provided for free. Each month, I call the state office and order our formula. It gets shipped from England, to New York and then to us! I am extremely grateful that I live in a state that provides the formula. Formula is not covered under insurance and is extremely expensive. I can't go to a store and just pick something up. PKU formula is medical grade and provides protein to help my children grow, but it doesn't have phe in it (the type of protein that my kids can't have). If ordering the formula online, it costs anywhere from $67-$95 per can! My kids go through 2 cans each week, each kid! I'd be spending close to $300 each week on their formula. Plus it's not like baby formula. They need to drink their formula every day for life, in order to meet all of their dietary needs! 
