Ryan’s Story
I went into the hospital at 11:30 pm Feb 4, my birthday what a wonderful present. Ryan Charles was born at 5:39 am February 5, 2005 weighing 6 pounds 5 ounce and 19 inches long. He was healthy and seemed fine. He struggled to eat, and was unable to nurse. But the nurses and doctors did not seemed concerned, and we were released on Feb 7th.
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Ryan
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Ryan was really eating slow 2 hours to eat just 2 ounces, and he was sleeping almost constantly. I felt there was something wrong with my little boy, but no one else seemed concerned. When Ryan was about 6 weeks old he started to have jerky episodes, I knew something was wrong but it was so quick and then he seemed fine I just didn’t know what to do but over the next day it seemed to get worse.
On March 21st, at just 44 days old I rushed Ryan to ER at Port Huron Hospital, I thought he was having a seizure. They admitted us and ran tests. March 25th we were released with a diagnoses of acid reflux and he was put on Prilosac and Reglan. Two days later we went to see our Pediatrician, he suspected RSV and sent us directly to St. John Hospital in Detroit. We were admitted and it was confirmed he had RSV, on March 30 Ryan became extremely worse and we were rushed to PICU, Ryan was put on oxygen. The Doctors also ran a video EEG to check for possible seizures, but again it showed nothing. We were released April 5th on oxygen and still the same diagnose of acid reflux and RSV. For 18 days Ryan seemed fine, then on May 23, 2005 Ryan became stiff as a board in my arms, his eyes rolled back and he started foaming at the mouth, Ryan was having a grand mal seizure, just the memory of this makes me cry, what a horrible thing to go through. I rushed him to ER at Port Huron Hospital, and demanded to be transported to Children’s hospital in Detroit. We were admitted and Ryan was finally diagnosed with Epilepsy. Dr Benjamin was the neurologist that saw Ryan when we got to Children’s Hospital and diagnosed him, he is currently still Ryan’s doctor. The day before we were going home another doctor had come to see Ryan, a neurologist, who also knows genetics. As soon as he saw Ryan he questioned CDG, and ordered for the transferrin test. This would determine if Ryan has CDG, but the test results would take a month. I never left my son’s side through all this.
Our son was just 4 months old, we had been to 3 different hospitals, had more appointments and ER visits than I could tell you. And all we knew was our son had epilepsy and possible CDG, which we had no idea what that was. I was told not to go home and look it up to just wait for the results. I’m a mom, what else could I do, so I went home and I looked it up. The following is directly from the CDG network website:
“ CDG-Congenital Disorders of Glycosylation are a group of disorders caused by the defective synthesis of N-linked oligosaccarides. These oligosaccharides are assembled in a specific order to create different sugar chain patterns on proteins in every cell. Because of the important biologic functions of these oligosaccharides for protein stability and cell communication, incorrect syntheses may result in multi-system involvement. The symptoms and severity of CDG vary from child to child. Some of the symptoms become more prominent at different ages. Today the clinical spectrum of CDG is expanding with milder and more severe features being recognized, still many cases are misdiagnosed.” Children with CDG have serious, life threatening medical problems. They require expert medical care. They have varying degrees of disability, including cognitive impairment, speech difficulties, poor balance and motor skills. They can also experience vision problems, seizures, and stroke like episodes.
The real heartache and stress now begins. They did the transferrin test 5 times with all of them coming back positive but one. Yet for some reason no one ever called us in and explained to us what CDG was, what the outlook for our son was, what we should be doing to help our son. We were left on our own. I researched CDG, I found a wonderful network of people at www.cdgs.com it is the CDG Family Network. The only doctors researching this disorder, and families from all over the world talking to each other helping each other. The website was a wealth of information that helped me to understand how to help my son.
In my fight for Ryan, early on I emailed the two doctors here in the united states who research CDG, I told them of Ryan and my frustration with the doctors and no answers. Both Doctors emailed me in less than 24 hours offering to speak to me and help in every way that they could. They have been my true source of help and sanity in all this. They are Ryan’s angels and I thank God for them--Dr Freeze, and Dr. Krasenwich.
Ryan needed all kinds of tests. He needed his eyes checked, his blood checked, his growth, we needed to see a genetics doctor, and most important Ryan needed all kinds of therapy if he was ever going to survive. Not one doctor ever told me any of this. Over the next several months, there was lots of appointments and tests. Turns out Ryan is farsighted and needs glasses and has a stigmatism. Ryan also has kidney reflux and must take antibiotics everyday. After several more tests it was determined Ryan does not have acid reflux so he no longer has to take that medicine. Ryan does have digestive problems and must take medicine for that everyday. Of course Ryan also takes medicine to control his epilepsy. Ryan has also been tested and shows that he functions as a one month old, Ryan is 18 months old now. He is 17 pounds and 26 inches long. Ryan cannot hold his head up 100%, he does not sit up at all on his own, nor does he crawl or stand. He does not hold on to anything or reach for anything. Most times Ryan does not follow with his eyes, and most time does not look at you. He does not talk. Ryan becomes extremely ill by something as simple as a common cold. Ryan has trouble breathing at times and also swallowing. He does not eat anything but 2nd baby foods, and juice and pedisure. No one ever talked to us about what or how to feed Ryan, I took him to a dietician who tried to help, but had no idea what CDG was or if he should be on a special diet. All this I found out on my own, and all the while fighting insurance companies and struggling to get referrals.
Dr Freeze ran a biopsy for Ryan to see what type of CDG Ryan has, there are 19 different types so far. Ryan was unfortunately an undiscovered type Ix. I immediately thought this meant there was a chance Ryan did not have CDG, But Dr Freeze assured me unfortunately he does, we just don’t know what type. As I sit here writing this I realize how much we have been through, the constant tests, appointments, trips to the ER and all of them every time explaining that my son has CDG and the response from the doctors was always the same, what is CDG, I’ve never heard of that? And my response of frustration. I have to constantly explain what is wrong with my son to people in the medical field that should know. This condition is rare, but some think including myself more under diagnosed than rare. This condition needs to be known, not just for the medical reasons, but to help the families. I have no support, no one understands what it is so they just say oh I’m sorry. But you tell someone your child has autism and they understand, they sympathize, they even want to help. But no one knows what CDG is, there’s no CDG support group, there’s no fundraisers for CDG. Just the other day, Ryan’s PT was saying that she has her charities that she donates to regularly, one being autism. There’s no one calling up or sending you something to donate to CDG. There are days that I can’t do anything with Ryan because he’s sick, or in pain or we were up all night and I can’t go anywhere or do anything. I have three other children that I have to be there for. Raising kids is a full time job, and it’s the hardest job you will ever have, now add a handicapped child into that equation , and there are few people who can understand what that is like, that‘s why they have autism support groups, cancer support, because people need that support from others who know what your going through.
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Family Photo
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Just to give you an idea of Ryan’s care he has therapy 3 times a week, he has a breathing treatment that he sometimes has to take every four hours, he has a suctioning machine to limit the amount of saliva in his mouth so he does not choke and stop breathing. Ryan has stopped breathing 3 times in the past month. Ryan has daily exercise that I have to do with him to keep up with therapy, Ryan has medicines twice a day, even though Ryan is 18 months old, I still have to feed him 4 to 6 times a day. Ryan must be watched constantly for his breathing and position of his head. This is of course a good day, on a bad day as example this week today is Thursday and everyday this week, Ryan has been teething and has been miserable and crying for hours on end. Nothing consoles Ryan at times, not Tylenol, ibuprofen, rocking in a chair, his swing, and he can’t have orajel for his teething because that creates too much saliva and numbs his mouth prohibiting from swallowing and causing him to choke. Now add that I have three other children, 2 six year olds and a 13 year old, and I can’t imagine too many people could understand the stress and physical and emotional exhaustion you go through. Ryan also has a special seat for taking a bath, a special chair/wheelchair, he has leg braces and a standi dani (a device that teaches him how to stand properly) hand braces to hold his hands open. All of these things are things we have at home that I must do with him. And just to make a point that the families of children with CDG need help, Ryan is actually a good case when compared to other children I read about on the website. Children who have to have feeding tubes because they throw up everything they eat. I’m not looking for sympathy, I want the world to know what CDG is so they can understand it and so it is being diagnosed properly. Also because families like mine need understanding and support, not criticism. As a personal experience I recently found out that people I know question how I raise my kids and that I always look so angry. Maybe if they had an idea what goes on in our home, what its like to take care of Ryan, maybe they wouldn’t be so judgmental, maybe they would be understanding, sympathetic, and supportive. I have 4 children, I work 30 hours a week, I’m a volunteer coach for the AYSO, I take care of the kids before and after school, try to get to the library with them once a week, and make sure dinner is on the table every night at 6, this is besides all the care for Ryan. I don’t think I am angry, I think I am physically and emotionally exhausted and I’m sure it shows.
If it wasn’t for me doing the research , I don’t know where Ryan would be today, or what I would truly know about CDG. Unfortunately the truth is, I wake up everyday wondering what today will be like. Ryan’s condition makes him very unpredictable. Everyday Is a new day with Ryan and it’s a special day because he made it through another day. I don’t know what my son will ever be able to do or not do, will he walk, will he hold something will he ever reach for me, or hug me back. Will we be going to the ER today, will he cry for 5 hours, will he be happy and we can play or read a story or will he sleep all day. Everyday I tell him to say mama, all day everyday-maybe today will be the day he says it, or maybe he will never say it. I have no idea what Ryan’s outcome will be. What an awful feeling that is everyday all day. These are things that I think about everyday. I do my best to take care of Ryan everyday and do what I feel is best for him. I make sure he has the best doctors and therapists. I have high hopes for my son and faith and trust in God.
Please go to WWW.CDGS.COM , if you can’t donate at least take a minute to read about CDG, and read a few of the parents stories to learn about it, and pass it on to all those you know-lets educate the world. Help us help our children. God Bless
One added note this is a quote from a doctor who emailed me regarding Ryan. “it’s a long road, I know, these are orphan disease and I’m probably the only person in the country doing anything other than Ia and Ib analysis. Tax dollars go other places, not CDG work.”
eff: 10/14/06