A family shares what they learned from their young daughter’s rare medical diagnosis
By Suzanne Rent
When Georgia Langille was less than two years old, her family received a diagnosis that would change their lives. For months, Kristen and Fraser Langille, Georgia’s parents, took her to doctors and hospitals for testing. At four months of age, Kristen noticed Georgia wasn’t following movements with her eyes. Then the seizures, infantile spasms in particular, started.
After researching on the Internet, Kristen got Georgia into the IWK for “every test known to man.” The diagnosis was congenital disorder of glycosylation type 1P. Georgia is only one of five people in the world known to have the condition. “Pretty much every part of her body is affected,” Langille says. Georgia is blind, deaf, and has no muscle tone. She needs a gastronomy tube (G-tube) because she can’t eat on her own. She now has cochlear implants.
Now three years old, Georgia needs full-time support and has several doctors’ appointments each week. Kristen left her job to stay home full-time.
Our Children recently spoke with Kristen about Georgia’s condition, how it affects her family, including their other daughter, Abbie, and what she has learned about her young daughter.
How do you deal with Georgia’s condition as a family?
I think we handle it pretty well. We are a very strong family and have a lot of support. Both of us have great parents, and great friends. We live in Truro, which is a small community, so everyone knows us. I don’t think we would have got the support had we lived in the city. Truro is so much smaller, we have been here so long. It was definitely one of the worst things that has ever happened to one of us in our lives, but we try to take it day by day.
When you got a diagnosis for Georgia, what were you told?
She was in intensive care at the same time. They told us we were having a team meeting, and if I could ask my husband to come in from work for this meeting. I thought it was going to be great because we would finally find out something. They sat us down in a room of 50 people to tell us the diagnosis, which was horrible. Honestly, the medical profession knows nothing about it. All the doctors and nurses at the IWK, before we are admitted there, have to Google it because they have never heard of it. They will treat her symptoms, but there is nothing you can do for it. What it is is glycation, which is what your liver does. When her food is getting to her liver, and the liver is not doing its job because the sugars and the protein are supposed to join together and go through your body. So, this is why there are so many different things wrong with her. She has a lot seizures. She is blind and deaf, and doesn’t have any muscle tone, so she will never walk. She can’t hold her own head up. It affects a lot.
What sort of support do you get?
We qualified for 12 hours a week of VON respite, but to be honest, we don’t get the whole 12 hours. They are very, very short staffed. And, of course, there are people in the community who need them more than we do. My husband and I haven’t been alone in three years because one of us has to be home with Georgia. We were excited to be able to go on date nights, but nights and weekends cancel that because there is not enough staff. I end up using it for an hour or two a day to go run errands or get groceries or go to the gym.
What have you learned about Georgia? Can she communicate with you?
She can’t really communicate but we are working on it. We just learned a couple of weeks ago, I had about eight ladies here, some from New Brunswick, some from Halifax, they are trying to teach me a special way of communicating with her, which would be awesome. It’s more like everything you do to her, you have to say it the same way every time, and let her feel it at the same time. So, like her toothbrush, her facecloth, her diaper, her wipes, so she will anticipate it before it happens to her. She does react to us. She has cochlear implants now, so she does react to our voices. She has a great little personality. We tickle her, talk to her and she will smile. She used to be so extremely medicated she used to sleep 24 hours a day. And she would never even wake up. She couldn’t even swallow her own spit. Now she is weaned off her meds and she is doing so much better. Some days she doesn’t even nap now. For the longest time, it was so disheartening because we thought she’d be like that forever. It took a load off our chests to see her more awake, her eyes wide open. Every little bit we weaned, it got a little bit better, so that is amazing.
What have you learned about your own family?
We definitely realized how strong we are. We definitely realize how much support we have in our immediate family. We have definitely realized how strong our marriage is. It’s tough on the marriage, for sure. It definitely has changed me in a lot of ways because I am definitely more patient. I am definitely less judgmental of people. You just don’t know what anyone’s situation is. It’s definitely made us stronger, as a family and as individuals. Our daughter, who is 14, it was really tough on her. She was the only child and only grandchild for 11 years before we had Georgia. It wasn’t exactly how we planned for it all to go down. She has been a trooper.
What do you think your other daughter, Abbie, has learned?
It has definitely taught her to be compassionate, and supportive, and more patient. She has mentioned to me many times how she can’t believe how people in the community support us. It’s really opened her eyes to a lot.
How do you cope?
You’d be surprised that at first they tried to push medication on us, especially for me. Every doctor we ever came into contact with wanted me to be on sleeping pills and anxiety pills but I was not down with that at all. I did try some therapy. All my hair fell out after a year and a half. I had every test going…everything was fine with me, but they figured it was stress. Even though I didn’t feel stressed they said it was my body’s way to say I was. I think my best way of dealing with stuff is I get out and I do some running and go to the gym and I burn off a lot that way. I come back rejuvenated and I feel like it makes me a better mom. To get that hour out every day, and see other adults, is really like it just refuels you a little bit. I am not much of a talker, but I found out you have to talk and get things out some times and get people to listen, which I have.
What do you want to say to a family who is reading this and they got a diagnosis for their child and they aren’t sure what to do?
My best advice would be to use the other parents that have similar children with special needs. They are the best advocates and the best knowledge you can find. I have learned more from the parents of special needs kids than I have from any doctor or nurse or specialist at any hospital. At first, I got so many emails, messages, and I wasn’t ready to talk to people. You can’t talk about it without crying. It’s like having your child die. You think you will have this healthy baby and it’s not even close. After awhile, you will really learn to count on the other moms.
What do you want for your family for the future?
I hope and pray we can give Georgia the best quality of life that she deserves. And we continue to have the support of our community and our family. If I can help any other mom out there, I would love to advocate for or help anybody. And I hope we can keep our family together and strong and that we can keep doing all the things we love and keep including Georgia in it as much as we can.