We'd like to start off by saying thank you to everyone for all of your prayers, words of encouragement, and love over the last few months. We couldn't have made it this far without you and are sincerely thankful for the impact that all of you have had in our lives.
Earlier today, we met with the geneticist to go over the results of the genetic testing that finally came in last week. The testing revealed that Brooklyn does not have CFC as the doctors previously thought. Instead, she has a similar genetic disorder called Costello Syndrome(CS). Costello Syndrome has many of the same symptoms as CFC and several of the other syndromes (Turner, Noonan) the doctors thought Brooklyn might have. It is extremely rare (less than 300 cases worldwide). There is only one gene that is responsible for Costello Syndrome, but there are several different mutations of that gene. The gene mutation that affects Brooklyn is called G13C and is rare even among people with Costello Syndrome. From what we have read, there are less than 10 people with Brooklyn's mutation in the world.
Unfortunately, Costello Syndrome is thought of as more severe than the other related syndromes because of the increased developmental delays and the high probability of cancer in people with Costello Syndrome. The great news is that there are no known cases of someone developing cancer with Brooklyn's gene mutation. Just like the rest of us, no one can rule out the possibility of cancer, but hopefully her chances will be pretty low. We will be taking her in for regular chest and stomach sonograms to screen for tumors. She'll also get regular brain MRIs and a urinalysis to check for the same thing.
The doctor did comment on how impressed she was about Brooklyn's oral skills at this age. Most people with CS don't start eating by mouth until age 2-4. She is already able to take some bottles which is a great sign. Also, all of her heart issues are very minor. The doctor commented that Brooklyn's heart conditions are milder than most children she she's with some of the other "better" syndromes.
We are so grateful for this little girl and are thrilled that God has entrusted her to us. She is His perfect creation and we know that he created her this way for a reason. He has a plan for her and for our family that we don't understand right now, but in His time will be revealed to us. We will push her to do as many "normal" things as we can. We will not shelter her forever and will encourage her to try new things. She will love, she will laugh, she will succeed, and she will fail. Just like everyone else. We are committing our family to live life to the fullest and appreciate every day for what it is...a gift from God.
Below is a youtube link of a video we put together:
http://youtu.be/7_Mq-R4PkVYWe love you all,
Jeremy & Jenny
