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.

We have made the decision to remove Ali’s NG tube and for her to have surgery to have a tube inserted directly into her stomach. We think that in the long run the G tube (Gastric) will be better for all of us. It kind of feels like we failed.  We had every intention of teaching her to eat and a G-tube was not part of the plan in my mind.  But here we are.  She is on a waiting list and we are expecting to wait a couple of months for the surgery.

Ali continues to spit up like crazy. Her wait gain has pretty much stopped in the past month which is concerning but thankfully we had her fattened up pretty good for a while so she has some fat reserves to burn off. She has grown a bit in length which is encouraging  and is probably the most important measure of growth to us currently.

She is still not making much progress with the bottle feeding and we’re wondering if the NG tube has anything to do with that. I guess we’ll see.

Ali giggled yesterday! It was so cute. It wasn’t a full belly laugh by any means but it was pretty clearly giggling and it happened a few times! She was so beautiful laying there smiling and giggling. It did my heart good to see her act like a “typical” healthy little girl. That’s huge for Ali and we are very excited!

Since dealing with her cold Ali refuses to even attempt to bottle feed or suck on her soother so it’s been a real set back in that regard. ve lost most of the progress we made.  We’re pretty much starting over again on the feeding therapy and she’s not making any progress right now which is discouraging.

Ali has been struggling with her weight gain since being ill as well. She’s hovering around 6 kg but she keeps going up and down,today she’s up!

We have managed to speed up her tube feeds quite a bit in the past few days which is great! She eats at about half the speed of a “typical” baby now which is awesome! She’s come along way since leaving the hospital and is now eating faster then she ever has before!

Yesterday Jason took Ali for tumor screening. There is a significant amount of evidence that Ali might have a high tendency to develop certain childhood tumors. For all you cytotechs the tumors are neuroblastoma and rhabdomyosarcoma. Obviously we need to avoid those at all cost so we are having her screened every 3 months by u/s and will continue to do so until she’s 10 years old. When she turns 10 we’ll switch our screening method and gear it more towards Transitional cell carcinoma as at that time TCC will be her major risk. We don’t have any results from the screen yet but hope to hear soon.

Thanks for reading!