run down of PKU

So I haven't really written on Maggie's condition. So that is what we will learn about today.

Maggie was born with a rare metabolic disorder called Phenylketonuria, or PKU for short. The definition of PKU from the National PKU website is this: 

"Phenylketonuria (PKU) is a rare, inherited metabolic disorder that is characterized by the inability of the body to utilize the essential amino acid, phenylalanine (Phe). Amino acids, usually obtained from the food we eat, are the building blocks for body proteins. PKU is caused by a deficiency of the liver produced enzyme phenylalanine hydroxylase (PAH).

This enzyme normally converts Phe to another amino acid, tyrosine. Without this enzyme, Phe accumulates in the blood and body tissues. Excess Phe is toxic to the central nervous system and causes the severe problems normally associated with PKU. When left untreated, PKU patients who consume too much Phe are at risk of severe neurological complications, including IQ loss, memory loss, concentration problems, mood disorders, and in some cases, severe mental retardation.

Damage done is irreversible so early detection is crucial. When treatment is begun early (within the first few weeks of life) and rigorously adhered to, affected children can expect normal development and a normal life span. PKU can be treated by a diet low in phenylalanine and high in tyrosine. While there is no cure, in recent years a few drug products have become available that can be used in limited cases to mitigate the effects of the disorder. Other therapies currently under investigation include an injectable form of PAH and gene therapy."

People with PKU have to drink a daily formula that is the make up of protein, but doesn't have the amino acid phenylalanine. We call it her milk. She will have to drink it every day for the rest of her life. 4 cans (the size of regular Similac or Enfamil cans) cost about $700. She currently needs around 10 cans a month. The cost and the amount needed only increase as she gets older.  There are currently 16 states with little or no provisions for metabolic disorders, mainly PKU (I am currently putting a packet together to send to our congressmen to get this changed). Most states, including Mississippi (who has zero provisions for PKU), will allow coverage of formula through the state healthcare (medicaid) for children- if you fight with them enough. Most states give some sort of tax break or monetary help for the everyday foods. Most all of her foods are only available through online stores and some of the costs are as follows:

1 box of 30 individual snack bags tortilla chip bags: $30
8 oz Pea-not butter: $8.49
2lb bag of baking mix (for pancakes she loves): $12.79
(16) frozen veggie meatballs: $20.49
12 cranberry pumpkin cookies : $12.49
(8) mini plain bagels: $12.49
(4) Veggie burgers: $11.49
Pasta: $10/box (like we get for $1 at Wal-Mart)
Cereal: $7/box
Rice: $9/box
Cake mix: $6/box

She is allowed only 7g of protein a day. In comparison, 1/2 cup of peas has about 4g of protein. So even with her fruits and veggies there are some she can't have. 

So the question comes up "Why can't she just have a vegetarian/vegan diet?" Good question! Phenylalanine (PHE) is an amino acid that is contained within so many foods. Bananas have zero protein, but high PHE. High protein foods such as: meat, fish, poultry, eggs, cheese, milk, dried beans, and peas are avoided along with wheats and flours.  If she were to eat a normal diet that included these foods, severe and irreversible brain damage would be certain. 

"Phenylketonuria (PKU) is characterized by elevated blood levels of the amino acid phenylalanine (Phe), which is mainly obtained from eating proteins. The symptoms of PKU almost exclusively concern the brain, so how does an elevated blood Phe level affect the brain? The brain is protected by a surrounding layer called the blood brain barrier (BBB), which allows some material to cross while preventing others. The brain needs certain material to cross the BBB to allow for normal functioning. One of the raw materials the brain requires are amino acids including Phe for building brain proteins and making chemical messengers called neurotransmitters.
The way Phe and other amino acids get across the BBB and into your brain are by using transporters. This is similar to a bus (the transporter) carrying people (the amino acids) to a destination, each seat gets taken up by an amino acid and the next stop is the brain. This analogy provides a visual description of the main theory of how elevated blood Phe can affect normal functioning of the brain. Imagine that elevated blood Phe in PKU can lead to Phe taking up more seats on the bus, which may cause two things:
More Phe gets transported into the brain
Less of the other amino acids that share this bus get transported to the brain because Phe is taking up their spots!"

With PKU there is only mild (HyperPHE) and high (classicPKU). Maggie girl is, thankfully, mild. This puts her as a prime candidate for a somewhat newly FDA approved therapy drug called Kuvan. Kuvan is a type of  Sapropterin pill. "Studies have shown that taking daily pills of sapropterin Iower and stabalize blood Phe level in some people with PKU. Sapropterin is available by prescription and is meant as an additional therapy to the Iow-Phe diet. To determine if sapropterin therapy will work, the physician puts the patient on the drug tor a trial period and evaluates its effectiveness." I am so excited to start this for her, and I hope she will be a responder. If she isn't, we will wait a couple years and try it again. It isn't covered by most insurances right now, but that is also something that can be fought for and sometimes approved. But since PKU is so rare (roughly 20,000 people in the US), it's not on the radar for most insurances and states.  But when not approved, BioMarin, the owners of Kuvan, have a fund set up and help for the families to pay for it. The PKU community is so amazing in that no one wants anyone to go without. It's truly a blessing that this community is so "all for all, no man left behind". 

We will be starting her trial on Kuvan in the next month or so. She will go from having one doctors appointment every other month, to 5 in one month to monitor if it is working for her or not. So, if you're the praying type- please pray with us that she responds, and if it works, she will be able to have much more protein in her diet! (yes & amen!)