AnneLisa

 © Mowat-Wilson Syndrome Foundation

AnneLisa was born in August of 2000. I had a normal pregnancy.  She was a full term baby, weighing 8lbs, 8oz, and was 21 inches long.  AnneLisa looked big and healthy, and the doctors and nurses congratulated us for our beautiful and healthy baby girl. She looked perfect to us, and she was “the most beautiful” baby around!!! We did notice one thing that it was different to my oldest girl, and that was that  AnneLisa had some creases, of extra skin in the back of her head. We didn’t know what it was and we didn’t think much of it at the time. I tried nursing her, and she didn’t want to nurse, and she started having a lot of green bile through her mouth. We didn’t know what that was either. The nurse told us that it was normal, because she still had some fluid from the birth that she was getting rid of. I had her for the first few hours, and she was calm, and never wanted to eat. About 10hrs later, I noticed that her lips looked blue, and the nurse did too, so I asked them to check her and see if she was OK. They took her, and I fell a sleep. A few hours after that I woke up and I asked them to bring my baby and that’s when the whole nightmare started. The nurse had tears in her eyes and told me that the doctor needed to talk to me. I knew then that something terrible had happened, and I ran to the nursery. I saw the room full with doctors, nurses, machines, stress, and  AnneLisa was in the middle of all that covered with cords, and tubes.  AnneLisa was hooked to all of these machines, tubes, and monitors. Her pediatrician told us then, that  AnneLisa had some heart defects ( ASD, PDA , VSD , Pulmonary Stenosis , and Bicuspid Aorta Valve ) We didn’t know what it all meant, I just knew that her heart wasn’t working properly, and it was overwhelming to see her like that. He then also told us that she had a rare disease called Hirschsprungs disease, and it affected the way her intestines were developed, so that they needed to transport her immediately to a local children’s hospital where they would do more testing to verify the diagnose. She went in the ambulance and we followed. They didn’t let us ride with her. When we arrived, one of the GI surgeons who had seen her, told us that they did multiple biopsies, to verify the Hirschsprungs, but while doing that, her intestine ruptured, so they had to do an emergency colostomy. The results came back positive for the disease. They told us that she would have to stay in the hospital for about 2 weeks, and that she could have another surgery about 6 months later to reattach her intestines to the rectum and then remove the part of the intestine that was not working. While in this hospital,  AnneLisa was seen by every specialist, and every time, someone would see her, they would tell us some bad news about what was not working properly. Her heart gave her a lot of problems the first few months of life. She went into heart failure 3 times, and she had to have 2 blood transfusions. Because her heart was so weak, she had to eat small amounts of food, because her body was using all of the energy to eat, and she didn’t have any left to grow. She also started throwing up everything that she would eat, so they used several kinds of formula to see if they could find one that she could tolerate better. She had a feeding tube. Because she wasn’t holding anything down, they put her on TPN  to help her grow. She had been in the NICU for 3 weeks, and one of the nurses said that something was wrong with  AnneLisa’s eyes, so it was then when she was seen by an ophthalmologist, and he ordered an MRI. More bad news, they said that  AnneLisa had complete ACC , and that she had 3 cists in the front lobe of the brain. They also told us that she had optic nerve hypoplasia . Her optic nerves weren’t fully developed. They told us that they didn’t know what the future would bring, and that they didn’t know how this would affect  AnneLisa and her development. The ophthalmologist didn’t know if  AnneLisa was going to be able to see, and if she did see, we didn’t know how much or the quality of her vision. We were overwhelmed with sadness and fear of the unknown. After this,  AnneLisa moved to a more permanent bed in the NICU. It was them when we realized that she wasn’t coming home any time soon. She started physical therapy/occupational therapy at 5 weeks old in the hospital. The therapist would come 3 times a week to her and work with  AnneLisa on eating/sucking, and strengthening her head.  AnneLisa was on continuous drip feeding 24hrs a day, and she couldn’t be moved because the minimal movement would make her throw up. After being in the NICI for 3 months, the doctors realized that she wasn’t going to eat on her own, so they decided to train us, to be able to take her home. By this time, we were very comfortable with her ostomy care (we got very good at it, and we could have her keep a bag for 7 to 10 days without coming out)   AnneLisa was able to increase her feeding so that she would have to eat 21hrs a day, and was able to be turned off the feeding pump for 3 hrs a day, which was great! We would bath her, change her clothes and do a little floor time with her during this time. Bringing her home was the best thing for her. She started getting stronger, and was growing very well. We were able to increase her feeding amounts, so that she could have more time off the feeding pump. In February of 2001, she was back in the hospital for her GI surgery, where they were going to remove her colostomy, and reattached her intestine to her rectum. The surgery lasted 7hrs, and it went well!!!  AnneLisa is an amazing little girl!! She was in the hospital for 2 months after that, because once again she started having problems with the formula and wasn’t keeping anything down. She was put back on TPN. They did an Endoscope and they found her Duodenum  inflamed and bleeding. The formula was causing this severe food allergy reaction, so they put her on a new predigested formula, and she did very well on that. For the next year or so,  AnneLisa was in and out of the hospital due to GI problems. The new formula caused internal bleeding again and we had to change her formula again. The cardiac problems got better. In November of 2001 her echocardiogram showed that her ASD and her VSD had closed on its own. (She had been taking several medications for her heart) So the good news was that she didn’t need heart surgery. In December of 2001 we had the best Christmas present ever, and it was that  AnneLisa was able to track me through the room, and she could see what was happening around her. She started rolling at about 14 months or so. Then she started sitting up on her own at about 18 months, and started crawling at about 22 months. She started wearing AFO’s at about 2 yrs old to help her correct her feet posture, and to give her support and stability. In January of 2003,  AnneLisa had her first 30min Grand Mal seizure, and she was having them once a week. She was in the hospital for a week trying medications and observation. Her seizures were severe and out of control until about April of 2004. Then she has had then once a month and her last one was last July (8 months ago) She still has seizures, but short ones. She has experienced all kinds of seizures ( Grand mal , tonic colonic , absent , drop , fright seizures, etc) For  AnneLisa’s last cardiology appointment, we found out some more good news. Her PDA and Pulmonary Stenosis were gone, so right now she has only one heart condition, the Bicuspid Aorta Valve, which is not causing her any problems right now. Her cardiac situation is doing great.  AnneLisa has always been a happy little girl. She loves to play with toys. Her older sister does motivate her a lot to get into things and to want to do everything that she does.  AnneLisa started standing up on her own around 3yrs old and about 3 1/2yrs old she started to cruise, and give a few steps with help. By 4 yrs old she started walking on her own and has been doing great at it.  AnneLisa had a very difficult start in life, and she has overcome great obstacles in life. Yet her determination for living has made her strong. She goes to Pre-school now, and will start a special Ed kindergarten program in the fall. She has been very healthy the last 3 months, and is growing well. She still has a feeding tube, and gets all of her nutrition that way, but we’re able to feed her 4 times a day now, and the feeding takes 30 min each time. She still takes a lot of medications for her seizure management, and for GI motility and reflux problems, and is doing great on those. Her immune system is still weak, but we try taking preventive measures and it does help her stay healthy. She had also developed Asthma, due to aspiration in April of 2004, but we’re doing preventive treatments, and it has made all the difference in the world. Her general development is delayed, but she has made great progress in that area also. She started clapping by herself at about 4 yrs old or so. She can stack toys, sort shapes and colors, put simple puzzles together, take toys in and out of containers, and activate toys. This year she started coloring on paper, and on the walls, and is able to push the computer button for simple adaptive computer games. She has an adaptive tricycle and loves to ride it in good weather.  AnneLisa has also taken horse back riding classes, which did help her posture a lot, and she started walking shortly after that. Other therapy programs that we’ve done with her have been water therapy, and she loves the swimming pool.  AnneLisa loves to watch cartoons, and she does have her favorite movies/cartoons. Her medical condition is always going to be there, but as long as she keeps on progressing and gaining new skills, we’re doing great. I wanted to write  AnneLisa’s story here, as an inspiration to all of you who might just have started this journey with your child, and your family. Things are difficult at times, but they do get better. You just need to have faith, be always informed on your child’s condition. Ask questions, get second opinions on diagnoses, and give your children plenty of opportunities to have fun, and enjoy life. Enjoy the good times, and be strong for those more difficult times. I wish all of you the best of luck with your children, remember always that you are not alone!

Sincerely,
Carolina (USA)  AnneLisa’s mom.
March 13th of 2005, USA