Annual Eye Check

ABBIE SITTING IN HER BUMBO CHAIR WORKING WITH MS. LISA, HER EI THERAPIST. THIS IS THE CLOSEST TO HER EYES I HAVE.



Abbie had her annual opthomology appointment yesterday. This is the 2nd time we have seen the eye Dr. We were pleased last year to know that she had wonderful vision and the eye structure was perfect. 1p36 Deletion Syndrome affects the eyes in many of the kids. The Dr. told us things looked great and we did not have to come back for 1 year. So, this was yesterday. I have never seen any issues that would lead me to believe that Abbie could not see well but, you never know since she can not tell us. When the Dr. came in she remembered Abbie right away. I really like this Dr. alot! She did some tracking things and made some observations and said that she thought Abbie saw great but, she wanted to do a full exaime just to be sure. The nurse dialates her eyes and then the Dr. comes back. She checked Abbie's vision and optic nerve. She was very pleased. She feels like Abbie was blessed to not have any affect of the Syndrome dealing with her eyes. If anything would be from the Syndrome we would already see it. I was very glad to hear this. Abbie does have asigmatism (sp) but, she said it is common for a 2 year old so she is not to worried. If it does cause problems in the future it is from our family history and we will deal with it then. This is wonderful news. Abbie is so comunitive through her eyes. She also learns so much by watching things so we are very blessed to have great vision. By the way, Abbie got her green eye's from her Nana (my mom). Go figure. She is the only other one in the family that got them. We think it is cool!

In the Begining

Abbie was not born yet when the first sign of something being not quite right appeared. When I was 17 weeks pregnant we went in for our ultrasound to find out what we were having and do all of the measurements. I knew something was going on when the lady kept measuring the same thing over. She told us we would have to see a specialist because she could not get all of the info she needed. I knew something was wrong. Luckily, my Dr. found me before I left the office and told me that the baby had inlarged latteral ventricals in her brain and Choriod plexus cysts. She said it might be something but usauly it is not. I went to the specialist 6 days later and they said the same thing except they told me that 90% of the babies with these cysts were fine and 10% were linked to a chromosomal abnormality called Trisomy 18. They wanted us to have an amnio to make sure she would be OK. We did not because it would never have changed the outcome of this pregnancy. At 24 weeks they found the first hole in her heart. This was our second red flag for Trisomy 18. Again they wanted us to have the amnio and we declined. We started to see a pediatric cariologist at this time. At 28 weeks she hit IUGR which stands for Inter Uterine Growth Restriction. This means that she was less than 10% of the size she should have been at that gestational age. This was our third red flag for Trisomy 18. At this point they told us Abbie would probably not live ful term. If she did she would probably not make it through labor and delivery. And if she did she would be here on earth for about 5 days. Wow, how do you deal with that? Lots of prayer and talking, Family and Friend support. Still does not make it easy! At 38 weeks and 5 days Abbie Grace was born weighing in at 4 lbs. 2 oz. 16 3/4 inches long. She was blue and not breathing. The NICU team worked on her for a while, to me what seemed like forever. They had to bag her to get her breathing. Finaly, we heard the small but definate cry. She was so tiny and sick. We did get to hold her for about 30 min before they rushed her away to the NICU. More to come on the first part of Abbie's jouney......

Details to Come

ABBIE ON THE BEACH IN HOLLYWOOD, FL LOVING THE SUN! SHE LIKES TO WEAR MY SUNGLASSES. AUG. 2008

ABBIE STANDING FOR THE FIRST TIME. SHE LOVED IT AND HER MOMMY AND PT ARE VERY PROUD OF HER! JUNE 2008

ABBIE SMILING BECAUSE HER AUNT BRENDA FED HER CAKE THE WHOLE TIME WE WERE IN OK THIS SUMMER. JUNE 2008

Abbie is our 2 1/2 year old daughter with 1p36 Deletion Syndrome. She was diagnosed at 8 days old with this chromosomal abnormality. I will post the last 2 1/2 years in time and explain what her diagnosis actually is. But, for now, she is doing great. She is up to 14 lbs. 9 oz. and 31 1/2 inches tall. She gets stronger and stronger every week and that is what we want. She improves in one or more areas each therapy which is such a blessing! At this time Abbie has 1 hr of each of her therapies each week, Physical therapy, Speach therapy, and Occupational therapy. She also receives 2 hrs of cognative and developmental play each week. Yes, we are busy but it is worth every min. of our time. Please keep checking in on Miss Abbie. Updates and passed history to come!