Friday, February 13, 2009

What We Learned in Phoenix Today

We had our Geneticist appt in Phoenix today with Landon. Overall the appt went well, and we had all of our questions answered. Our appt lasted 3 hours, and the Dr spent lots of time explaining things, going over things, drawing diagrams for us, etc. I feel comfortable taking Landon to see him, but still really hope it will not be neccesary at all.

I am going to make bullet points of what we learned today, it's an easier way for me to organize it all and explain it w/o going on and on.

  • No one is completely sure Landon even has this disorder. They only found trace amounts of the enzyme on the last blood test they did. So to be safe they put him on the diet, meds, etc that they would for an individual with the disorder to be on the safe side.
  • Landon does not have any outward signs of the disorder..which is great news. They said he looks like a normal, healthy baby and he is doing great. He is developing normally, gaining weight appropriately, and growing appropriately.
  • If Landon does have this disorder, he has a VERY mild case of it, which is great news b/c contrary to what we had read on the internet and found out through other sources, this disorder can be fatal if it is really severe. We would have known at birth, or shortly after if Landon had a severe case, he would already have heart, liver, and muscle damage which he does not.
  • We may be able to breast feed again even if he does have a mild form of this disorder. He has to have some long fats as they are needed for healthy brain development, so I am holding out hope that worst case scenario he ends up with this, we may still be able to nurse along w/ taking the Rx formula we are on.
  • If Landon has this disorder insurance is required by law to cover a good amount of the Rx formula for him, which would be a great help.
  • The Geneticist was not thrilled at all about the possibility of Landon going into a daycare if he does have the disorder.
  • If Landon does have this disorder he would be on a low fat, heart healthy diet for the rest of his life. Meaning his diet would consist of only 20-30% fat where as normally our diets are 30-40% fat.
  • Landon would still be able to have Pizza, Cake, etc. inmoderation like other normal children and adults, we would just have to balance it out w/ a few meals after being lower in fat than even he would have normally had.
  • He will be able to exercise and be in sports if he would like, he would just have to consume alot of sugar while doing so and stay hydrated.
  • One scary part (besides this thing possibly being fatal in it's severe forms) is that if he gets a stomach bug, or really sick, or dehydrated he would have to be admitted into the hospital to recieve IV fluids in order to avoid dehydration and any muscle or liver damage that could possibly go along with it. We will be given a note to take with us to the ER if this is ever the case.
  • Scott and I are still really optimistic and holding out hope that all of this is a false positive, and he doesn't even have the disorder to begin with. With only trace amounts and both positive and negative tests there is still a good possibility that he doesn't have this at all.
  • The geneticist said that he believes if Landon has it (it's still and if and will be for a few more weeks) it's very mild, his gut tells him his wouldn't be fatal b/c he has no outward signs or symptoms and no damage and only trace amounts on one test and negative results on other tests, but he can't tell us more until we get results back from today.
  • Landon had the skin biopsy done. It is the only way to find out 100% if he is affected by VLCAD or not. They have to let the skin grow in a lab for 2 weeks, and then they send the sample and the growth off to Baylor in Dallas and the Geneticist (the lead one on these disorders in the country) will literally inject the skin with fat and see how it metabolizes it and that will tell us for sure if he has the disorder, and how severely he is or isn't affected by it.
  • At 6 months of age we can finally stop having to feed him every 3 hours. We will be able to go as long as his age is in months between feedings. For example at 6 months he would only have to eat 6 hours, and 7 months it would be 7 hours, etc. So we will be able to sleep through the night, and he will be able to eat like a normal person. He will though be on the formula as a supplement until he is about 1 year old.
  • Both parents have to be carriers in order for the child to be affected by FOD (Fatty Acid Oxidation Disorders), so if Landon does have this, it is in both Scott and I's family. Where and on which side (our moms or dads sides) who knows.
  • If we choose to have more children, and it comes back Landon has this, those children have a 25% chance of being affected as well. If they aren't effected they would be carriers 50% of the time, and totally un-affected the other 25% of the time. If Landon does in fact have this disorder this is something Scott and I will discuss before deciding on more kids.
  • He will take the medicine that he is on, Carnatine, for the rest of his life if he does in fact come back with the disorder.
  • Having this disorder does not pre-disposition him to contract anything else in his life.
  • He will still be vaccinated normally, but we are going to go ahead with our alternative vaccine schedule. I am not willing to go through all of this with him, and then end up with Autism or something like that as well. One is enough, I could and can not handle anything else at this point.

So we are in a holding pattern until we get the test results back from Dallas. We will be continuing treatment like he has the disorder. The reasoning for that being treating it and it ending up that he doesn't have it will not affect him in any way, but stopping treatment and then his results coming back positive could cause irreversible damage, and neither Scott and I nor the doctors are willing to risk that. I feel sorry for my little guy that he had to have a skin biopsy today and he will always have a little round scar from it (they did it in a place that isn't visible readily). So we are just hoping, and praying that the results come back negative and we are just educated on metabolic disorders. Please pray for Landon and for negative results on this final round of tests. Everything is still a big if, which is both good and bad. I hate not knowing, but I am glad there is still a pretty good possibility for the results to be negative. Again, I am very thankful for our amazing Pedi and the fact that he has been so proactive with Landon and his treatment and getting all of this figured out. This is all I can remember right now, I am exhausted from the long day, and still trying to get Landon down for the night. If Scott or I remember anything else we will definately post it.

1 comment:

  1. Sounds like you have some amazing doctors on your side. How ironic the genetic testing is done in Dallas...