1 – 2 Years
Shortly after Aime turned one we had our first appointment with the community paediatrician. He felt Aime either had Angelman’s Syndrome or Rett’s Syndrome but to be sure he referred us to a Geneticist to get confirmation. Then we did what most parent’s do these days and we came home and started researching on the internet. After much reading both my husband and I thought that Aime was heading more towards Angelman’s Syndrome but we weren’t 100% convinced. A few months later our Geneticist appointment came through and it was during this meeting that he felt that Aime had Mowat-Wilson Syndrome as she portrayed some of the facial characteristics that went with the syndrome. Bloods were taken and sent away to be tested for all three syndromes aswell as a chromosomal tip test.
Whilst we were waiting for the genetist’s results Aime had various other appointments to make sure everything else was okay. She passed her hearing tests to the best of the hospitals ability, and her eye tests although her optometrist felt she was long sighted so wanted to keep her under review every 4 – 6 months. Aime also went to see an ENT consultant as she was starting to get ear infections on a regular basis.
Then on the 30th June 2007 we finally got our diagnosis, Aime had Mowat-Wilson Syndrome. So now we knew for sure that our little girl was different and we had a name for it. The test showed that a spelling error was identified in her DNA known as ZFHX1B.
Aime also started working with the early years team and a portage worker was arranged to come to the home once a week to help work with Aime and get her ready for preschool.
Aime also started going to sing and sign sessions and jo jingles music sessions. These sessions Aime thoroughly enjoyed and this was where her love of singing and music really took off. We also started taking her to sensory play and once a month going to a local group where parents with children who have additional needs can go and have a coffee whilst the children play.
Aime started to vocalise mamama and various other sounds with her mouth but with no context. She hadn’t started signing yet but she seems to understand when I signed and talk to her.
Aime started eating foods that melt in the mouth as finger feeding herself was a no go. She was like a little bird with her mouth open just waiting for the food to be dropped in. She still had bottles regardless of how much she ate, which seemed to be a lot however the weight still never really went on. Her diet consisted of vegetables and high fibre foods as she seemed to be constantly constipated. She drank chamomile tea with drops of peppermint oil in, which helped ease her build up of wind and gripping pains.
During the day Aime’s Sleep pattern was pretty good, she regularly had a 2 hour nap through the day and was always asleep by 8pm. During the night however, we would regularly have to go into her to replace her dummy as she seemed to wake up for no reason. We were given melatonin to help get her to sleep but it was keeping her asleep that seemed to be the problem and even with medication this didn’t seem to change.
Physically, with help from the physiotherapy team, Aime improved greatly. She started off slowly, standing holding onto furniture and cruising and with the aid of a ‘Kaye walker’ and a set of Peidro shoes she began to try to walk. Aime also received a special table and chair to encourage her to use her hands more. Aime always had a tendancy to use her feet and forehead to touch and play with. She was also placed in a standing frame daily for an hour to help her wide gait and build up her core muscles. She started to explore her world more and more and would pick objects up that were big and small, lift her arms to be picked up, transferred objects hand to hand, drop objects in a box when prompted and generally went on strength to strength. She was also able to roll over, shuffle backwards on her belly to get into a sitting position and started to crawl.
Socially she watched people and their actions. Would wave goodbye and look to interact on a one to one basis. Her confidence was growing slowly and she was becoming less anxious with new people and new surroundings.