As told by her mother

One year before Anna’s birth I was carefully “minding the gap” and also trying to lose baby weight from my first pregnancy. First pregnancy went great, Paul was born 7 days later, on 25 June 2005. Paul was conceived in 2 months which we attributed to the fact that we are non-smokers, drink alcohol quite rarely, try to eat healthily and play tennis as much as we possibly can. Neither my husband or I are on any kind of the medication. Though at the time of Anna’s conception we both had fish oil and vitamin C supplements.

Anna definitely was a planned pregnancy – we really wanted “the winter” baby. So when I fell pregnant in April 2008 we were really delighted. Pregnancy went quite well, but I decided to do amnio-test as I was approaching 35 so I wanted to ensure that there was no genetic problems, at least those which can be detected. The pregnancy went really well. However in December 2008 I fell ill with a cold, non-stop cough in the evening was a real concern, as I hoped that the baby will not arrive for Christmas due to me coughing that much! I took extra vitamin C tablets to fight that cold and eventually recovered from it.

The due date was 21 Jan 09, but I was sure that there was a miscalculation as it I always thought that it should have been 27 Jan 09. I have been scheduled for the induction for 3 Feb 09 but the labour started on 31 Jan 09 at 3am and Anna was delivered at 10.42am. It was a normal delivery in the birth pool, where I managed to get 40 mins before Anna arrived. The midwife kept me on the monitors as she couldn’t get a clear heart rate, the contractions and Anna moving obviously didn’t make her task easier. I didn’t have any pain killers, apart from some paracetamol and codein which I promptly brought up. Anna had apgar score 9 when born, she made some noises and almost immediately went on sucking. She was 3.540kg and her head was 33cm. Afterwards she slept most of the day, so I spent all next day trying to keep her awake, ready to go home to sleeping at night.

First 6 weeks were a bit hectic, getting used to 2 kids in the house. But at 1 month I had to introduce an evening bottle feed as Anna was feeding for ages in the evenings and a couple of times she brought all of her feed up. Being a winter baby Anna picked up a cold almost immediately, thanks to her loving sneezing brother. She could not sleep on her back at all, so for almost all of the first 6 weeks Anna end up sleeping on my chest, while I was “sleeping” propped up in the bed in her room.

At about 7 weeks I noticed that she has a flattening on her right front part of the head. She also seemed to be tilting her head to the left, so I started suspecting wry neck. After some research on the internet I understood that she didn’t have torticullis but nevertheless I met a paediatrician who confirmed it. Anna was 2.5 months by then and her head size started to fall off the centile. I didn’t realise the significance at the time, but 2 weeks later went to check Anna’s misshapen head at the clinic in London. The doctor there pointed out that Anna’s head is okay but sizewise she is falling off the centiles. I came home, measured her head, compared it to the chart and realised that Anna’s head has not grown for 2 months, ie stayed at 37cm since she was 2 months old. I managed to get an appointment in Great Ormond Street Hospital (GOSH) in London as I wanted to hear if Anna had craniosynostosis. I simply didn’t not realise that it might be a brain problem. Some time in April Anna picked up chicken pox from Paul which was predictable as I took her off breast feeding completely as she seem to stop being interested in it.

On 7 June 09, I was told that Anna has microcephaly by doctor at Great Ormond Street hospital. I was absolutely devastated, mainly because the consultant could not give me any advice on what to do next, except for “just wait and see”. Yes, they also mentioned that as Anna is okay now I should not worry! Anna had an MRI scan at GOSH which confirmed that she has ponto-cerebellar hypoplasia. Obviously, checking cerebellum hypoplasia on the internet got me into more despair that ever in my life. I am a planner and the realisation that I can not even think about anything long term related to Anna – this was very hard. Thank God, I had my family around me, my husband, my son, my belief that everything what happens now happens for the best. My last trip to GOSH was on 20 Aug 09, to the Ophthalmology department. The consultant there confirmed that Anna’s optic nerve is intact, she doesn’t have strabismus and generally her vision is normal (I have copies of all letters from consultants if needed). The consultant explained that he feels that Anna can be monitored in Newcastle Royal Victoria Infirmary Hospital (RVI).

On 28 Aug 09 we saw a neurologist at the RVI, something I tried to arrange for some time. We had a 2 hour consultation, which was very helpful, though still emotional for me. The consultant observed Anna and said that she develops as any normal 7 months old baby. She just started to pull herself up on all fours but could not quite creep in proper x-pattern. However, she is working out on it but chooses very selectively the targets she goes for! Consultant mentioned that he will think about next steps, possibly genetic tests. He also advised to get an appointment with the community paediatrician. The only thing that we could actually do was to give Anna multivitamins. At the moment Anna eats caviar daily! We discovered that any other fish oil vitamins contain citric acid so we decided that salt is better then citrus at this moment of time.

Did I mention that Anna is 50% Russian origin? Well, I am to blame for it or be thankful for. After meeting with neurologist I decided to browse on the internet, choosing Russian blogs this time (talking about things happening for a reason) and accidentally came across conversations of mothers who were discussing Glenn Doman’s books. They were very upset that “What to do with your brain injured child” book is not translated into Russian. Fortunately, someone put Russian translation of “How to make your child physically superb” on the internet, so I read it in no time. I ordered “What to do with your brain injured child”. The concept and work done by IAHP is simply remarkable! The books helped me, a primary carer of disabled child to get out of my state of “helplessness”. The only regret I had was that it took me so long to come across this information.

When Anna was 2.5 years old, it was discovered that Anna has got Cask mutation (in 2008 first study related to it was published), which basically means that one of Anna’s X-chromosomes is missing a portion, which does not let it work correctly. Since each of the cells in the body is “switched on” to work with one of the chromosomes, so the cells that are linked to non-working chromosome don’t work properly, hence the developmental delay.

Anna is recorded to have severe developmental delay, she is 8 years now, doesn’t talk, goes through toilet training and have to be supervised 24/7.

Since 2009, we have been to USA 3 times and attended 3 lectures, which helped us to set the program for Anna, which stimulated her both physically and mentally, so she started walking at 3 years old. I totally attribute it to her crawling cross patterned on all fours required 1.6 km daily on the football field during our time in Uzbekistan.

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