Genetic Update

We feel a lot better about Giuliana's prognosis after today's appointment. We found out that the genetic test that we've been waiting for took a close look at Chromosome 11, which is where Beckwith-Wiedemann Syndrome (BWS) appears. Children with Beckwith-Wiedemann Syndrom have a higher risk of getting cancer. They are prone to cancer in their abdomen. Joe and I are happy to report that BWS is not present for Giuliana on Chromosome 11! This just means that it is not in her genes, and they are going to draw blood (a methelation screening) to look and see if it is present in her DNA.

Giuliana does have characteristics for a clinical diagnosis of BWS. She has Macroglossia (a large tongue) which is the only major characteristic that SHE has (there are other major characteristics, and luckily if she's not showing signs of them now, they will not develop later), along with stork bites on her forehead and the back of her neck, and creases in her ear. Joe and I forgot to mention it to the doctor, but we believe she also has an umbilical hernia. The doctor said that many BWS children where BWS appears in their chromosomes, have cognitive development delays and she does not see Giuliana having and delays. So she shouldn't have any problems processing information, learning language etc.

In addition to the methelation screening, she orderd blood to be drawn to check Giuliana's Alpha-fetoprotein (AFP) levels. She will have to have her blood drawn for AFP levels every 6 weeks until she is at least 3-4 years old. In a few months they will perform another abdominal scan (most likely an ultrasound) to check her organs for cancer. She will have this test done every 3 months until she is 8 years old. While the doctor cannot predict the future, she feels that with these tests Giuliana's prognosis is very good.

The state also provides a program called Early Intervention. This is a family-centered service to assist families to help their children reach their fullest potential. We have an evaluation scheduled in 2 weeks where our Service Coordinator will come out to our house with an Occupational Therapist, Physical Therapist, Speech Therapist, and Developmental Therapist to see if Giuliana is eligible for this program.

Joe and I have been heavily researching Beckwith-Wiedemann Syndrome online over the past 7 weeks to educate ourselves so we know about our daughter's syndrome, and so we know what questions to ask the doctors. If you would like to read more about Beckwith-Wiedemann Syndrome, I have put some links below.

www.beckwith-wiedemannsyndrome.org

www.cancer.net/patient/Cancer+Types/Beckwith-Wiedemann+Syndrome

www.bws-support.org.uk/index.html

On another note, Giuliana has begun to smile regularly! Below are a few pictures and a short video. Also, Gunnar had his first baseball game this weekend and his team won! Yay Nunnar as Giovanna would say! He played right field, left field, and pitched for 2 innings.

The Girls

We have SMILES!

Smiles and babbles