I received the following account from the Kellys at the end of September. Ed and Shawn live in Michigan where their daughter with MSUD, Sydney, was detected through the state screening program soon after she was born on Sept. 10, 1997. This is a success story which is a joy to share with other families.
As the end of the first year approaches, I sit and say to myself, "Where has this last year gone?" We have had a daughter for one whole year. Our daughter, Sydney, was diagnosed with MSUD at ten days of life. Sydney is the most important person in our life. I look up as she says, "Ma Ma" to find her standing at the entertainment center turning the TV on and off. I tell her "No no," and Sydney smiles and shakes her head "no no."
I have thought about writing about my experiences with MSUD for a long time - I just never got around to it. My name is Shawn Kelly, and I work full time for a marketing company in Michigan. My husband's name is Ed, and he is a fireman for the City of Detroit (Sydney and I are very proud of him!). Aside from working, I spend every additional hour with my daughter and my husband. Together Ed and I have read all the newsletters, found information on-line, and talked to other families who have children with MSUD.
I can still remember the Friday that Ed and I received the phone call. I was in the shower and Ed said, "We have to go to the University of Michigan right now; Sydney has MSUD." I was so upset! We were called on Wednesday and told to have Sydney retested for MSUD, at which time her test came out slightly positive. From Wednesday until Friday, all I could do was cry. I just knew she had it.
I called a friend of mine who is a nurse and she told me the little bit that she knew about MSUD. "MSUD causes mental retardation, brain damage and death in infants if left untreated." My friend said not to worry, because it's such a rare disease. "This can't be happening," I must have said over and over.
Sydney, Ed and I entered the hospital on Friday, September 19, 1997 and met with Anna Marie Schaefer (nutritionist on the Pediatric Neurology Metabolic Team). Anna Marie confirmed for Ed and me that Sydney definitely had MSUD. Anna Marie answered all of the questions that Ed and I had and tried to ease our fears. I couldn't understand it; Sydney didn't show the usual signs of having MSUD. She was fully alert, ate, slept, cried and did all the things a new baby does. However, we didn't recognize that the cry was a little high, as this was our first child. Sydney wouldn't nurse, so I would pump the breast milk and feed her with a bottle. She was drinking. She was sucking. She was smiling and cooing like a baby does. Until that Friday.
While we were on our way to the hospital, Sydney was very quiet. She wouldn't drink the Pedialite we gave her, and she became very fussy. We sat in the waiting room for a short time while the nurses took a blood sample from her and put her on an IV to prevent dehydration. Sydney screamed so loud that I became frantic! The doctor said, "Relax Shawn, that means that she is awake and not in a coma."
Ed and I were shown to a room and told that if Sydney wouldn't drink the formula, she would have to be fed through an IV. At that point, I was out of control with grief, and Ed said he didn't want Sydney to need an IV. Ed made the MSUD formula and fed her the formula from a bottle. Ed actually got her to drink! If Sydney wouldn't drink, Ed put a cool cloth on her face or took off her clothes to wake her up. It seemed Sydney would drink just to make Ed leave her alone!
By Saturday, Sydney was much better, however, I wasn't. Ed took full responsibility for Sydney. He fed her, changed her and rocked her. I was scared. In the afternoon, a woman named Sandy Kiel called me. Sandy has two kids with MSUD. At that point, these words eased my fears a bit. I began asking Sandy questions such as: "What will Sydney eat when she goes to school?" "What do your kids eat?" Questions that I shouldn't have been worrying about at that time, as Sydney was only eleven days old! I should have been paying attention on how to make her formula, listening to the neurologist on call, and to Anna Marie, who came in with all the information she had. I finally calmed down enough to listen, and that night, when Ed was worn out from being up for two days straight, I took over. I sat up and rocked Sydney until 3:00 a.m. We bonded. I told Sydney that I wouldn't let anything happen to her, and she smiled at me and went to sleep.
We were discharged on Sunday, only three days later! Anna Marie and Dr. Allen couldn't believe it. Sydney's leucine went from 43 mg/dl to 16 mg/dl in just three days. Sydney was awake, alert, eating and going home! It was a miracle. We came home to four dozen pink balloons and a big WELCOME HOME SYDNEY sign from Ed's twin sister, Denise. Denise came over and cleaned for us and made it comfortable for when we came home. It was a wonderful welcome.
Well, this last year has been pretty easy. Sydney was sick only once, and her leucine levels only went to 7 mg/dl. She was back to her normal self in two days. We have never stayed overnight in a hospital since that day almost one year ago. I tried to write about our experiences quite a few times, but my story could never match the ones that I read. Anna Marie finally said, "You need to write about your experience, whether
Sydney was sick or not. All the children are different. People will want to read about how well she has been. New MSUD families will like to hear the positive information."
Since I have to work, my mom takes care of Sydney during the day. My mom is wonderful with her, and I couldn't ask for anything more. She loves Sydney more than I could imagine, and Sydney loves her too! You can just tell. They play little games with each other. I call my mom every day to see how much she ate, if she napped, or if her diaper smells like syrup. Sydney has a very large family. She has 19 cousins, 10 aunts and 8 uncles, and they all adore her. Sydney is the 17th grandchild on Ed's side, and his 6 sisters still fight over her. The cousins always want to hold her. At first, I wouldn't let them hold Sydney because I was overly cautious. When Sydney was a few months old, my niece Shelby asked if she could hold her. Shelby smiled and said, "I'll wash my hands." I let the kids hold her now, and I just keep her away when they are sick. It's hard, because our family is very close - when one person is sick, it goes on down the line.
Sydney is a very bright little lady, and she has to have her hands in everything. She likes to swim, and she loves her dog, Bailey. Sydney takes her little pink baby doll, that her Aunt Kimberley bought for her, everywhere. We now have four of these little dolls. Sydney sucks the ribbon around the baby doll's neck to go to sleep, so the dolls are constantly getting dirty and need washing. One day without the doll equals a very crabby Sydney.
Our experience with the disease has been fairly easy. I always inquire about the other children. Zack Pinsky and Anna Rueter are always in our thoughts. We finally met the Kiels and the Page family at the ANMD picnic. We went to the Pinksy's and met the Bulcher family. Tyler, Zack and Sydney, all in one house at the same time. We held our own Symposium!
Sydney, Ed and I would like to thank everyone for all their support, pictures, letters and calls. It has really helped our family and gave us the knowledge and understanding that we needed. I look forward to the newsletters, recipes, as well as how other families experience MSUD.