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Joshua’s Story written by his Daddy
Our second son Joshua was born on the 12th August 2009 in the Midwife led unit in Perth Royal Infirmary three weeks early whilst I was working off shore in the North Sea. As I hurried home Joshua was being transferred to Ninewells Hospital in Dundee with a suspected infection. He was presenting with poor muscle tone and breathing difficulties. After a number of blood tests, lumbar puncture, ultrasound and MRI scan we were told the heart breaking news that he had the rare disease Cerebellar Hypoplasia. We were told he had a number of abrnormalities showing on his MRI of his brain and the specialists told us they were unsure of what Joshua’s future would be and how he would develop. We were told he would definatley have difficulties in terms of co-ordination and learning difficulties but they couldn’t be sure how severe it would be. Like any parent being told this news, we were absolutley devastated. However, we tried to remain positive and pray for the best outcome for him in order for him to as be comfortable and happy as possible. A repeat MRI was planned for him aged 4 to 6 months in the hope of a clearer diagnosis as was another laryngoscopy. This time planned for through at Glasgows Yorkhill Sick Kids Hospital. After three weeks spent in the neonatal special care baby unit we finally got to take our baby home. The whole three weeks we took it in turns to be by his side at all times him never being without one of us with him. So to finally get home and to be a family of four was what we had longed for.
Joshua’s first two weeks at home were very encouraging as he breastfed well and gained weight and had some improvement in his tone and starting to make small movements. However the next 6 weeks following he started to deteriorate. He became very unsettled, had poor weight gain and was excessively tired. He was treated for reflux and colic but his difficulties continued. At 11 weeks of age he was readmitted to Ninewells Hospital this time to the Childrens Ward 29. For the next week they tried to resolve his feeding and weight gain issues. His extreme tiredness resulted in him needing to be fed Nicola’s expressed breastmilk through a nasal gastric tube. At 12 weeks of age he was then transferred through to Glasgows Yorkhill Hospital to investigate his respiratory problems. After another general anaesthetic and scope they found out he had paralasis of the vocal cords which was restricting his airway and causing his increased breathing efforts. To assist him he was then given permanent oxygen through nasal prongs. After the possibility of him needing a trachyoscopy and a number of sleep traces to monitor his breathing we were told we would be able to take him home on permanment oxygen and a number of medications for his extremley bad reflux.
Joshua was then transferred back to Ninewells Hospital where we had hoped to re-establish his breastfeeding and once feeding issues were resolved and everything was set up for taking him home on oxygen we had hoped to be in just a few more days. Back in the care of Joshua’s very supportive neurologist Doctor Jollands she began to be concerned as he wasn’t showing any sort of improvement. Following a few more tests on Wednesday the 18th November she gave us the devastating news that what she had suspected that Joshua did infact have Pontocerrebellar Hypoplasia Type 1. This being the most aggresive form of the condition and we would only have him with us for a matter of months. As we struggled to come to terms with this news Joshua started to deteriate even quicker than what the doctors had expected and our dream of having him home for his first christmas was seeming more unlikley. With Joshua becoming more and more uncomfortable and struggling with his breathing. We both took the decision to let nature takes its course and for him to decide when it was time to go and not intervene with any machines that would cause him more distress and only prolong his life for such a short time as the outcome was never going to change. He then spent most of his time sleeping in our arms and woke up long enough the day before he passed away to have a bath which he really enjoyed. At ten to nine on the evening of the 22nd November, only 4 days after being diagnosed he passed away peacefully sleeping on his mummy’s chest with just his nappy on and just skin to skin which he loved. We then took Joshua home and spent the next five nights before his funeral looking after him and he slept in between his mummy and daddy in our bed. He was only seen and looked after by our family and because we hadn’t had him home for long it was so nice to have him at home with us as a family. He was laid to rest in what we like to call his “new bed” on Friday 27th November 2009 after a very moving service at St Fillans RC Church in Crieff.
Joshua was so brave and such a little fighter right until the end. We were so proud of him and feel so blessed to have had him even though for such a short time. He was loved so much by us all and we will never ever forget him.