Diagnosis, after diagnosis..
Here it begins, the doctors approach, they don't look happy. 'She doesn't look right.... Her heads too small' and worst of all 'If she doesn't latch to a bottle soon it's looking like she will be tube fed' 'She keeps spasming...MRI is needed' of course she was too tiny to get clear results' 'We don't know whats wrong with her yet but she is definitely retarded' YES they did say that of course to a doctor that means nothing but the technical term for it, but for me i was shocked too stunned to open my mouth it wasn't a nice word to me.
Olivia-Marie, we called her, my strong baby girl. She was in scbu (special care baby unit) or a total of three weeks and 2 days. I myself still on the ward for 2&1/2 weeks. Her bloods are taken and we are told to go to the genetics apartment to have our bloods done too to see if they can find anything that way. With the only thing at that time that I could possibly do for her was desperately EBM and learn how to change and test a gestational nasogastric tube (Ng tube for short) to make sure its safe and in the right place to feed before feeding. meanwhile there are families learning how to bottle feed and burp their tiny babies, to this day I probably couldn't tell you had to burp a baby, my normal is different to everyone else's, or so I thought.
Before we can take her home with her tube we have to watch a short film about why you shouldn't shake a by and learn how to do CPR on a baby. That was it the happiest day of my life I get to take my baby home. 10 or so weeks go by and the health visitor and community nurse checking up on us regularly but she's started wrenching and coughing a fair bit and for a couple of days so we take her straight to the hospital because they had told us we had open access to take her straight to the ward (of cause we told them first and on our way and explained the situation). We were then in for a few days and sent home with medication and our first diagnosis REFLUX.
From about 4 months old I noticed that she had started doing theses strange movements and sometimes she would just zone out like she was day dreaming but it didn't look right, Naturally Im informing the health visitor about everything as she's been coming out to see me once a week for support and asks if i would like to get social services involved and i ask why. She explains that I shouldn't be alarmed and social services offer support for those who have children with complex needs as thats the road we were looking at. So I agree, I will get all the help I can get, this is new to me and a lot of the professionals as I come to learn in the future. She reaches 6 months old for another MRI that was organised when she was a newborn because the last one wasn't clear as she was so tiny.
Two months later, Olivia is 8 months old, its the day of our appointment with the neurologist, and you've guessed it, another diagnosis right? well to my surprise it was actually two! To my surprise the neurologist sounded very enthusiastic whilst he explained to me that in fact Olivia had a very rare genetic condition, Pontocerebellar-hypoplasia. and with that comes hand in hand with Dystonia and Epilepsy. He explained that Olivia is the first patient he's worked with with it. He explained that he wanted to put Liv on meds to help with the dystonia as her muscles would be very sore he wanted to do some blood tests to check how bad it was or something like that. He explained that what we thought could of been seizures could be like Dystonic episodes where her body would go stiff or spasm and can trigger a seizure is left. As he showed me the brain scan he said that she had a very very small cerebellum only a third of what she should have. The Cerebellum is a part of the brain that controls the body's movements.
Over whelmed I went home a long journey in the car and you know what I did I went home and I put her down for a nap and I went on facebook and I typed in the name of the newly found rare genetic condition she had been diagnosed. 'Pontocerebellar-hypoplasia' boom straight away a facebook support group I told them a bit about my daughter to get approved to go in for privacy reasons, I introduced ourselves. not long after I was warmly welcomed and soon found out there was one other like my daughter like our family going through the same as we do. The only other ones in the whole of Wales going through the same, and they only lived 20 minutes away. And is when we met our first dear friend. That is where I cant express to you how much I love the power of social media, the not being alone again.