This is going to be a very busy week for Ali. We started our huge number of appointments this week off today by meeting with the GI specialist and the PEG (Percutaneous Ensodcopic Gastrostomy) team in regards to finally getting Ali a G-tube. After talking to everyone I feel very confident that this is the best choice for Ali. The Gastroenterologist seems very nice and assured me that this is a basic procedure that they do all the time and although there are risks, they are minimal. Ali having Costello Syndrome does complicate things a bit but everyone is aware of the situation so everything should be fine. She is booked for surgery on June 28th. I had to pick between an afternoon surgery on June 28th or waiting another month for a morning surgery. I choose the earlier date because I feel that sooner is better then later but now I’m worried because of how long she’ll have to go without food for an afternoon procedure. I’m really second guessing myself. Truthfully I’m terrified either way. Just another thing to lay awake at night worrying about I guess. Most parents don’t have to worry about sending their infant off to have surgery, no matter how minor so I’m feeling a little bitter again because we had to make another tough decision and because my baby is going to get poked at again and be in pain again. I feel guilty because I can’t fix it, it’s a feeling that I’m getting altogether too used to. I’m sick of tough descisions and I’m frankly a little sick of appointments. I think I’m tired today. Things usually look better after a good cuddle with one of my girls so I’m off to cuddle the heck out of Ali (she’s easier to catch then Madi!!!).
Monthly Archives: September 2014
I Shouldn’t Spend So Much Time Thinking. Originally Posted May 19, 2010
Today Ali had an appointment with her occupational therapist and she did really well. I was so excited to see her sitting there on her OT’s lap holding her head up that I had to share with everyone that Ali just about has head control! Ali’s OT was really excited with what she saw today and said that the improvements were awesome.
Allison also now weighs over 14 pounds, 14 pounds and 5 ounces to be exact. We’re pretty excited about that too.
It’s nice to have something to celebrate, it’s been a rough week since we learned that Ali has poor vision. Ali also has a really bad cold again so she’s spitting up a lot and she’s very gaggy and congested right now.
I’ve been up a lot at night with our little bobean and it’s given me lots of time to think about how our lives have changed. This is not what I planned when we decided to have another child. Nobody wants this for their child, nobody wants this for their family and honestly nobody wants this for themselves. Taking care of Ali can be really tough. It means lots of appointments, lots of work and lots of worries but being her mother is amazing. Ali gives more then she takes. She is my baby and I love her regardless of any syndrome or any challenges. She can light up my day (or night) just by smiling at me. I’m thankful that she’s here and I’m thankful that she’s mine but yes I’d fix this for her if I could, I just can’t. I don’t consider myself a strong person, I’m just a mother who loves her children and is prepared to do whatever it takes to help them be the best they can be no matter what they have to face. Maybe I shouldn’t say this but I’m not a mom who wouldn’t change anything because I’d change this in a flash if I could but I would never give up Ali. If changing things meant not having Ali then I’d leave everything exactly how it is. So whether it’s teaching Madi to ride a bike (that child has no idea where her feet are!!) or helping Ali learn to function with poor vision then we’re going to get there and get it done, that’s just all there is to it.
Allison’s Eyes (Bad News Again). Originally Posted May 13, 2010
Ali can’t see. I’m not saying that she’s blind but she has very, very poor vision.
We went to a pediatric opthalmologist today and although he did admit that Ali’s problems are outside the scope of his practice, he did an examination and gave me his opinion. Ali did respond to some of the targets by either looking towards or away from the light and she obviously responds to light but she probably has horrible functional vision.
Ali’s optic nerves are both underdeveloped and her right optic nerve is also discoloured. The opthalmologist told me that when it comes to optic nerves, what you’re born with is what you keep so no chance of improvement over time.
Ali also has quite a substantial nystagmus. Nystagmus is related to the communication between the eyes and the brain and since it’s a neurological issue we need to see an opthalmologist that specializes in neurological opthalmology. The opthalmologist told me that sometimes it improves and sometimes it doesn’t but that to get a good understanding of any neurological issues that may exist we need to wait until we see the other opthalmologist. So more waiting I guess. She’ll probably be booked for an MRI as well to clarify any problems.
It’s really tough to get more bad news. I wonder what’s next?
So this information leaves me feeling really confused because I was so sure that Ali could see me. I’ve seen her smile at the dogs and at her home care aids so I thought she could see. I knew that her vision wasn’t great and that sound was helpful to her but I was really surprised to hear that it is as poor as it seems to be. I am even more in awe of her development then I was before today. She’s already proven that she’s a little fighter and that she’s a superstar and now we know that she’s been challenged in a way that we didn’t realize and still she’s managed to develop and learn. She’s already overcome a drug overdose that would have killed some babies and she’s just going to have to overcome all the unfortunate symptoms of Costello Syndrome. Poor eye sight included!
So now I guess we go back to enjoying our baby and taking joy in all her milestones. We’re trying to stay positive and keep on doing what we need to do but to be honest it’s hard on a day like today.
One Little Nucleotide. Originally Posted May 3, 2010
Nucleotides are molecules that when joined together, make up the structural units of DNA. You have millions of nucleotides in your DNA. Ali has one little nucleotide in her genetic code that was replaced by a different nucleotide. That one little tiny mistake is the cause of all of this. The genetic testing that was done on Ali was able identify the specific mutation in Ali’s DNA and now after a visit to the genetics clinic, we now have a clearer picture of what we’re dealing with.
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.