EB moderator Nut shares a heartwarming story from EB member Jo about her daughter, Sophie...
My name is Jo and I am Sophie’s Mum. Sophie has an older brother, Cameron. About halfway through this journey I met my partner Travis and we now have a son, Jack and daughter, Hannah who were born in December 2010.
Sophie was born at term after a very straight forward labour. She had slight Jaundice and would sleep all day. At four days old, when she started getting my breast milk, she also started vomiting. I breastfed for five weeks before we tried formula, which seemed to sit better in her tummy. Once she was eating solids Sophie was picky eater. She loved fruit and vegetables but refused dairy foods and meat. The reason for this became clear after diagnosis.
Around the age of two Sophie started to develop very strong behaviours. She had absolutely no fear and even less concept of consequence than most children her age. She was extremely hyperactive and often couldn’t sleep. I spoke to the professionals and was told to attend parenting classes. This was devastating. I did not need to be blamed for her behaviours without anyone even seeing them.
At three Sophie became so lethargic she couldn’t hold her head up. I took her to the hospital and was sent home because they thought Sophie was just tired. The following day she couldn’t swallow, walk or talk properly. This time at the Hospital I was taken very seriously and she was admitted with suspected Encephalitis. She was better in five days and sent home. The episode was bought on by the elimination diet she was doing to try to find out if food was affecting her behaviour. Sophie was taken off all preservatives and additives as well as dairy, eggs, sugar, wheat, soy, nuts and most fruit and vegetables. After four weeks, we were to reintroduce one food type at a time to see if she reacted to it. I kept a food diary of what she was eating and how her behaviour was during the day. This lasted one week before Sophie got very ill. We know now that was from having very few calories. I could never have imagined exactly how food was involved with her behaviour; I just knew that was my only clue.
Sophie continued to be a handful and was seen by a Paediatrician, Speech Therapist and Psychologist to help me deal with her and keep her safe. When Sophie was five she started getting lethargic again in the middle of the day which was very unlike her.
After another trip to Emergency we were finally taken seriously. Sophie was tested for a couple of different conditions, including Epilepsy. She was diagnosed with a metabolic condition called Ornithine Transcarbamylase Deficiency (OTC). The condition meant her liver could not process protein. Sophie needed to be on a low protein diet with high calories or she would get very high levels of Ammonia in her blood. This Ammonia would cause swelling on her brain which affected her behaviour but could also cause brain damage or death if the levels went too high. Originally we were told it needed to be controlled with diet of low protein and high calories, medication and a special drink. This all seemed manageable to me and the fact that I now knew exactly what was affecting my little girl was strangely comforting. That was until midnight that night when they got her Ammonia results back and rushed in to put the first Nasal Gastric (NG) tube in her nose. Watching your child confused, scared and screaming, having a tube pushed in her nose and down her throat so that she could be given life-saving treatment was utterly terrifying. All I could do was hold her and cry with her.
After receiving a lot more information about the condition, I took Sophie home and life went along as normal for a few months. Then things went downhill fast. Sophie had so many attacks of high ammonia we lost count. She would be fine one minute and looking like she was drunk the next; stumbling, slurring her speech, dribbling and in the worst cases, unable to walk. A while later we also found out through blood tests at random times, that Sophie’s most over the top, erratic behaviour was also caused by high ammonia. Doctors described those episodes as manic. So life then consisted of monitoring everything Sophie ate and watching her constantly for signs of ups or downs.
Over the next two years, Sophie had around 40 hospital admissions and was put on different medications. After ten months with an NG tube she received a PEG feeding button inserted in her belly. Sophie managed to go to school in the midst of all this, although missing about 90 days of school a year. The result of constant attacks of high Ammonia was slight brain damage which has affected her learning, mostly her ability to understand numbers and maths.
The risk of brain damage and possible death increased and it was time to talk about a liver transplant. A stressful and horrible decision but we had come to the realisation that things were just too dangerous for her.
It was 6.15am when the phone rang and I heard a voice say “we might have a liver suitable for Sophie”. At the hospital Sophie had bloods taken and was prepared for surgery. This whole time we were actually expecting the Doctors to tell us it wasn’t suitable or that Sophie wasn’t fit for surgery. Another fear was that we might meet a friend of at the hospital that day, vying for the same liver. We had two very close friends in exactly the same situation, who we would see in hospital all the time. Their families became my rock and it important to know that we weren’t alone. Our worst nightmare came true and our friend Darcy was there that day. He was too unwell to have the transplant and Sophie was next on the list. Darcy and our other friend Jasmin both got their turns a little further down the track.
Sophie was in surgery for eight hours. The next morning she opened her eyes a little and reached her arms out to me. This was the best thing she could have done. Sophie was always so strong and brave but I saw more of it in her over the next couple of days than I ever imagined possible. She refused to wear a nappy from the first day and would make us sit her up on a bed pan even though it must have caused her great pain. She had self-dosing morphine drip, but she never used it. Physiotherapists came and helped her out of bed on day one and she fell asleep in the chair just from the effort. She was out of ICU within 48 hours of coming out of surgery.
By day four she was eating things like Weet-Bix for the first time in her life. She no longer had a protein restriction and her amazing brain seemed to know this too. She also discovered a love for yoghurt. Sophie got out of bed on her own on day five and was so proud that she could stand up again. She was still connected to a lot of machines and even had a central line in her neck that took medication straight in her main veins but none of this slowed her down. She was in isolation as she was on very high doses of Immunosupressant medication. This was to suppress her immune system enough so that it didn’t recognise the liver as a foreign body and attack it. She is still on smaller doses of these and will be for the rest of her life.
Eleven days after the transplant she came home. She was on 27 doses of medication a day and although that took a lot of organising it was much less time-consuming than her previous medications and feeds. We were already feeling the load lighten and Sophie was full of energy and already seeming much calmer and less distant. She was also eating a full diet for the first time in her life and absolutely loved food. The next three months were spent at home in isolation. Whenever we had to go to hospital for an appointment, Sophie would wear a mask to cover her mouth and keep her from harmful germs. She coped quite well most of the time with the stares she would get and would much rather people asked questions so we could tell her wonderful story. It was truly something to be proud of. She is my inspiration.
Sophie’s behaviour changed for the better after transplant. She is a lot calmer and more restful. She is learning social rules that she could never grasp before and is making friends after years of just playing beside people or not even noticing them. Even her response to pain has changed, unfortunately now she feels it but we feel that’s still a good thing as pain often indicates danger. Sophie also started remembering a lot of things that happened when she was little. Like the first time we went on holidays to the town we used to live in, we visited there often even when she was sick. She pointed out so many things to us and recalled stories about when she had seen them before. We describe it as her coming out of a fog. You can see it in her eyes now; they are so clear and so deep.
Sophie is now 10 years old. In 2010 Sophie is so very proud not to have missed one day of school. Medication is now just four doses a day and is likely to stay like that for the rest of her life. The changes in our lives are immeasurable. We can now plan holidays and not have to say ‘we will go as long as Sophie isn’t sick’. Sophie can go out any time, go to parties and eat the food and even have sleepovers. Thanks to the life-saving gift she received, from the grieving parents of a child, we have our daughter back. This will forever be the thing I am most grateful for. One day I hope to write to that family and tell them our story and show them that their selfless gift changed our lives forever.
Leave a message for Jo and Sophie on the Essential Baby Forums.