Maisie was born what appeared to be a normal healthy baby, she was my 2nd child. From a just a few days I suspected something wasn’t right. She wouldn’t feed and kept losing weight, she wouldn’t let anyone but me hold her, she needed to be held at all times, she would cry if eye-contact with myself was broken. If any family member tried to hold her or look at her she would become distressed.
She was late on every milestone. At 13 months Maisie still wasn’t sitting up or crawling, no attempts at weight bearing and no words. She was still very small and wouldn’t feed properly but we finally saw a different health visitor who took me seriously and within minutes of meeting Maisie she was on the phone to the hospital for a referral. Maisie had x-rays of her hips to see if there was a reason for her not standing. These were clear, her paediatrician diagnosed her with global developmental delay, hyper-mobility and hypertonia. She started physio with very little improvement but I worked very hard on her at home.
At 16 months she was sitting unaided and army style crawling/shuffling. Her moods were terrible and she would cry until she was sick. Sleep was non existent and would only manage about 30-40 minutes broken sleep provided I was holding her and tapping her bottom. We still didn’t have any real answers as to what was wrong and were told she would eventually catch up. We had another baby in the hopes it would help with Maisie’s development. Maisie however wouldn’t acknowledge her little sister for the first year, then she targeted her with violence. Maisie was now saying 2 words, ted-bear and Bertie. These were a tiny teddy and a picture from a book of a dog which she carried everywhere with her. Talks of autism were being heard from every specialist we saw which made sense when I read about it. About 2 weeks before Maisie turned 2 she started pulling herself up to stand at the sofa, and within a few weeks she was taking a few steps. Finally I thought she was eventually going to catch up.
Maisie’s weight was dropping more and more and she was admitted to hospital with dehydration at about 24 months old. She was put on a drip to help re-hydrate her. Whilst in hospital her paediatrician popped in to see her, he monitored her for a short while then asked if I’d heard her speak that day, to which I said no I didn’t remember when I last heard her talk. It didn’t really strike me as odd as she still only ever said those two things. He said he was going to run some more bloods which I assumed were because she was dehydrated. Maisie was discharged a week later and seemed to be doing well. Still no advancements of development though. We were told we’d been referred to genetics at Sheffield. They came to do a home visit and looked at Maisie and went through lots of questions. They said she fit the category of Rett Syndrome and Angelman Syndrome and they wanted to run some bloods. I rang our paediatrician to tell him and was told he was already waiting on results of Rett Syndrome bloods from when she was in hospital. In November 2013 I saw our paediatrician who confirmed Maisie did intact have Rett Syndrome. I broke down holding Maisie as tight as I could.
We went home and broke the news to the rest of the family. We took time to try get our heads round it, we booked a family holiday for January to help us heal. It was tough as Maisie wouldn’t eat or drink hardly anything the whole week, she cried and vomited constantly. Her sister was 11 months old and her brother was 7. When home things continued to get tough. Maisie’s dad walked out as he decided he couldn’t handle the life we faced. The 3 children and me took time to adjust to our new life. Not long after Maisie had an MRI which showed a small cyst on her brain, no one knew if this had any input to her difficulty or not but the Dr wasn’t too concerned. By the summer, just before Maisie was 3, it was decided she would have a gastrostomy feeding tube placed as she had lost so much weight and would aspirate and vomit on everything. By Christmas she was much stronger, she started at a special nursery where she made great progress but we noticed she was having like tremors in her hand. During these she would be upset and rigid, we suspected seizures but was hard to confirm and EEGS were mainly normal. One day she had a massive full blown seizure and was again admitted to hospital were she had multiple seizures one after the other and required rescue medication to stop them. She was then diagnosed with epilepsy and put on medication. Over the years her seizures have got worse, never being controlled by numerous medications. Her last EEG in January 2021 confirmed she had Lennox Gastaut Syndrome too, a rare type of epilepsy which is hard to treat. Maisie is on a trial of Epidiolex for her epilepsy which so far is working amazingly. We still get seizures every day but they are less and smaller, she hasn’t required rescue medication in 6 months which is down to the new med. We are hopeful in time we can reduce her seizure even more.
Maisie is a much happier girl these days, she can still take a few steps independently but requires assistance nearby and uses a wheelchair all the time when out. She can’t speak but those who know her can understand her needs. I’ve raised her and her siblings single handed for the last 8 years, they’ve taught me so much, Maisie especially. I’m so proud of the beautiful, happy smart girl she has become. She has gone through so much yet wears a smile everyday. We still get a bit of the grumpy Maisie but nothing like it used to be. It’s an absolute pleasure to be her mum.