We survived half of our study barely...

Trials.... hmm I think there is more meaning to this then we realize... Like this trial really TRIED my patience and sanity..... I really thought this trial would be a piece of cake... wrong... so you have to list everything you eat and drink, and keep all the packaging for 10 days ( pretty easy right) then you list the enzymes you took along with the food (no problem) and you collect all your product for five days (yes gross but no biggie) and you consume exactly 70grams of fat each day (piece of cake)... Okay no problem.. See my little CFer eats everything so making sure he consumes 70 grams of fat is so easy, actually the hardest part I think will be making sure doesn't go over... I could not be MORE WRONG.....

My little CFer, had some life changing event take place in his little life unknown to me and the past few weeks he decided he didn't want to eat anymore and actually lost like a 1.5 lbs (yep lost weight).... This was terrible, I actually made him cry, trying to convince him to eat which made me feel like cruella de'ville and I don't want him to ever feel like that... (this is actually a study for FDA approval of Ultrase, Lane currently takes creon , so to correct my wording it is a study not a trial.....) But obviously it is important with any study to do it exactly as required, so getting the food down the hatch as needed was crucial, and adding to the stress was the fact that SOME local fast food restaurants offered nutritional facts about their food and some didn't... ( eating out was a must because of the high fat, it is what saved me, I found one menu item that had 43g, sick I know ) Anyway this study, I thought would be sooooo easy... and yes we have survived to the halfway mark, YEA and I do feel that I can accomplish the second half of the study, but boy I have a totally new perspective for people who do studies and trials.. Just when you think it will be a piece of cake, bham your out of flour... :) Now the fun begins, I have to try and duplicate day for day what I did last time, food for food, amount for amount... Now he will probably be starving... What a boy will do for a trip to Chuck e Cheese... lol

CF Carrier Testing....

Our gene testing results are in and one of our goals in gene testing was to figure out which gene mutation came from which family linage. Based on the information thus far we know which gene came from Lane's paternal side as well as maternal side. Our hope is that this will allow the family members who desire to do genetic carrier testing as well as genetic counseling to receive it at a much more affordable cost. It is our understanding that since we now know which specific gene to look for, the cost of testing is much less.

We now know that Lane has:

Delta F508 - carried from paternal side

and

p. N1303K- carried from maternal side

The following is maternal results and report:

The risk of being a carrier:

If you are Lane's Lovin Sibling - 2 in 3

If you are Lane's Lovin Aunt or Lovin Uncle- 1 in 2

If you are Lane's Lovin Niece or Lovin Nephew- 1 in 3

If you are Lane's Lovin Cousin 1 in 4

Obviously the are still risks for extended family beyond these, and if no known CF exits in family history and you are northern European decent you still have a risk of 1 in 25.

Ambry Genetics is one of several labs that offer carrier testing and I have included the link to their very informative site. Below you can also find a brochure for Genetic Testing for CF Carrier Status.

Gene Report by Ambry Genetics