Cancer – Costello children have a 15% overall risk of getting some very aggressive malignant tumors. What we didn’t realize is that the chance of getting these tumors varies with the specific mutation that the child has. Based on the mutation the chance of getting the tumors varies from 7% to 56% and Ali got a good mutation (if you can call it that), her chance of getting cancer is 7%. Hearing that your child has a 7% chance of getting terminal cancer may not be great news to most parents but to that parents of a baby with Costello Syndrome, the news couldn’t be any better. We’ll be screening for cancers every 3 months until Ali turns 10.
Heart Problems – Ali has all the noted “Costello Syndrome Heart Problems”, we already knew that so no surprises there. Right now they’re not too bad but we need to watch them because they could get worse so she’ll be followed regularly by cardiology.
Physical Abnormalities – Allison has funny toes but the doctor said that they weren’t too bad and shouldn’t be an issue in the future. She also has some ulnar deviation in her wrists and we will have to make accomodations for her when she’s learning to write and do other fine/gross motor activities. We need to be on the look out for severe scoliosis as it is common in children with Costello Syndrome and she may be extremely short when she grows up.
Developmental Delay – It’s hard to say but based on how Ali is doing right now, she’ll probably only have mild delays. She could end up in the moderate range but the doctor pretty much took severe delays out of the equation. She said that if she had to guess, she’d think that Ali will be able to attend main stream clases but she will need an aid to be with her to help her in her learning process. She said that Ali’s amazing progress right now is absolutely an indicator of how she’ll do in the future.
G-Tube – apparently pretty much a necessity at this point. We’re going in for a consultation on May 25th and hopefully she’ll have it by the end of July. Anesthesia is risky for babies with Costello Syndrome so we need to make sure that everyone’s ducks are in a row before we go ahead with that surgery.
Eyesight – she probably doesn’t have functional vision right now but we’re going to be working with the CNIB and Opthalmology and she could have good vision in the future. She probably has a eye movement disorder which can be fixed with strengthening exercises.
Reproduction – Costello people don’t often reproduce. That hurt to hear.
Well I guess that sums up our appointment. Lots of good news today along with some bad but we feel pretty good about it.