Interesting...

Over Spring Break I finally had the girls officially tested for CF. Ever since Bryce was diagnosed we assumed the girls were fine because they had never shown any symptoms of having the disease. Over the past several months I have read several stories where family's didn't know their kid had CF until they were older...12, 15 and one at even 18 years of age. These late diagnosed cases amount to approximate 10%, which is really small considering there are only 30,000 cases in the US anyway. Needless to say these stories slowly started eating away at me so I got to the point where I needed to know 100% that the girls did not have CF.

Bryan and I opted to have the girls blood drawn verses a sweat test because we wanted to know 1 of 2 things:

A. Did they have CF?
B. Are they a carrier of the CF gene?
(The girls need to know this for WAY down the road when planning to start a family).

Early last week I got Sydney's results: Sydney IS a carrier of the CF gene. Sydney had a 25% chance of either getting my mutated gene, Bryan's mutated gene, not being a carrier at all or having full blown CF, which means she would have both Bryan and I's defective genes like Bryce does. Being that Sydney got only 1 gene, she is only a carrier of CF. Carriers are symptomless. Sydney got my gene called the DeltaF508 gene, which is the most common of the mutated CF genes (70 to 75% in the US).

When the doctor called with Sydney's results they did not have Jordyn's. I thought this was odd since they had their tests done together. I didn't get the call about Jordyn's results until this past Friday. Jordyn's results: She is NOT a carrier at all!! Fabulous news!

So - we have one of each: A carrier, a non carrier and a full blown case. Very interesting if you ask me. I'm not sure if I have ever mentioned this before, but after we found out about Bryce, Bryan's brother and sister were tested to see if they were carriers. Turns out that Andy and Amy are carriers just like Bryan. This means that my niece Maisie has a small chance of being a carrier too, but since my brother-in-law Jason is not a carrier her chances are smaller. Bryan, Andy and Amy are all carriers of the same defective gene called: G551D. This gene is common in only 2.4% worldwide and is of Celtic origin.

Different genes have different characteristics. Bryan's gene (G551D) and my gene (DeltaF508) both have the same characteristic - "Pancreatic Insufficient". Hence why Bryce's pancreas doesn't work and why he will take pancreatic enzyme pills before he eats for the rest of his life. There are several mutated CF genes that are "Pancreatic Sufficient". There are other characteristics outside of the pancreas, but what all CF patients have in common are respiratory and lung issues. These can range from mild to severe. Only time will tell in Bryce's case...

Bryce is doing GREAT by the way!

Class dismissed!!