Dr Nicola Longo

Today was our apt with the States geneticist specialists and I was expecting to hear, no worries. Here is what was explained to me that I didn't know before:

• One of us passed a full 100% PKU gene, one of us passed an abnormal gene. With PKU the second gene can be 95% bad but that 5% normal keeps it at hyperphe, not PKU.
• Most often siblings have the same amount of PHE in their blood and with Beckhams being at 130-150 they thought Davis' would be the same.
• At 300 PHE in your blood you have to start the special diet to get it below 300
  
• Between 360-500 PHE in your blood you can start to develop things like ADD and learning disabilities.
• You have more PHE in your blood when you are sick because your body burns your muscle and that is like eating a lot of steak.
• Both of them have a full PKU gene without a doubt, so there is a chance that if they marry the 1 out of every 50 people who have a PKU recessive gene they have a 1/4 chance at having a child with full PKU. Caleb also has that same chance since he can have 1 PKU gene and 1 normal.
  

So the apt was casual with a lot of you have nothing to worry about UNTIL...they got Davis' results which are at 271. Yikes! So Beckham has only been tested so far on breast milk which is low in protein. Most likely Beckhams numbers will eventually be about where Davis' are which are pretty close to the special diet. They are going to monitor them closer now. Beckham will be tested again now and at 1 year old and Davis has to be tested at the beginning of each new year. Dr Longo also wants us to bring them back to him in 2 years to have them evaluated. This also means that we do have to monitor their diets partially. Both Beckham and Davis can not have any artificial sweeteners because they have high levels of the phenylalanine in them, in fact its 50% of the artificial sweetener. So no:

• Sugar free gum (trident, extra, orbit)
  
• diet sodas
• sugar free candy
• crystal light
• equal

Poor kids will always have to go with real sugar :) They also cant ever have protein shakes and they recommend that we eat a couple of vegetarian meals a week and not eating a ton of meat as a family.

Still very, very, lucky that they are not on the full blown diet but we are on the border so we will have to be much more cautious than I thought to keep them off the diet and from developing any learning disabilities as time goes on.

I find this all so interesting how genetics work!