Our gorgeous little Rudy born on 20th April 2011. Our story.
We are the Addems family, Stuart, Nicola, Miller age 5 and Rudy age 1 (and Sheriff our dog). Our youngest son Rudy was born on 20th April 2011 with the rare neurological condition Pontocerebellar Hypoplasia.
That day should have been one of the happiest of our lives but turned into the worst, we had no idea that anything was wrong until Rudy was born. Unfortunatley our pain was made greater by the insensitive way that the news was broken to us moments after Rudys birth. I feel so sad that our local hospital did not give me and Stu the love and support that we deserved that day, but we try not to dwell on that too much as the following day we were transferred to the Trevor Mann Baby Unit in nearby Brighton, they turned out to be our saviour.
At first they suspected Rudy had Edwards Syndrome and we were prepared for the worst. After five days the results came back negative, at last we had some good news, but on the other hand we still had no answers. At that stage me and Stu both felt we didnt want answers, after the toughest two weeks of our lives we just wanted to get our little boy home, love him, let him grow, let him show us what he could and couldnt do.
After living life like this for a few months I started to really struggle with it, what did Rudys future hold, how would it affect Millers life, how was it going to affect all of our lives, we were living in limbo. At this stage our lives had been totally taken over with health professionals, hospital appointments and the tremendous pressure I put myself under that I had to get Rudy feeding, and doing all the things that he should be otherwise it would impact on his future. During this time Rudy also failed his hearing test, we already knew our little boy had problems but this as well on top of everything else, we were devastated and this was probably one of our lowest points. Just when we thought it couldnt get any worse we started to worry that Rudy wasnt fixing and following with his eyes. "Please god no dont let our little Rudy be blind and deaf", the thought of Rudy trapped inside his own body and us not being able to communicate with him really was the darkest time for us. I remember saying to our GP that if this was the case I just hoped it was something neurological.
With all of this information the decision was made for Rudy to have an MRI and EEG as we had also noticed he had little twitchy jerky movements every 3 seconds. Two weeks later Rudys consultant in Brighton Dr Phil Amess broke the news that Rudy had Pontocerebellar Hypoplasia. He told us this meant that it was unlikely Rudy would survive infancy.
A week later we went to Guys Hospital in London and met with Dr Shehla Mohammed Consultant Clinical Geneticist. She explained more about the condition and asked our permission to send Rudys MRI and blood sample to Professor Baas in Amsterdam (the world expert in Rudys condition) to try to get us an exact diagnosis pch1 to pch6.
One week later we were back at Guys to meet Dr Elaine Hughes, Consultant Pediatric Neurologist. She was wonderful to us,so kind and gentle but honest at the same time, about Rudys condition and what it was going to mean for his future.
We are so greatful to have had Rudys diagnosis and to have been given this diagnosis by the professionals that we had. Of course there were many tears and we were devastated but at the same time for the first time in Rudys life we had answers, we had information which meant we could take control of our situation and start to make decisions about what we did and didnt do. The most important being we could now enjoy everyday we had with our little man, not spend it going from appointment to appointment and worrying about his future our futures, now we get back to being the happy family that we had always been and just enjoy life together. I didnt want to look back on Rudys life as the worst time in our lives, I wanted to start to make happy memories of happy times. Neither of us ever wanted to feel the way we had felt ever again.
Im so proud to say a year into Rudys life we are doing just that, of course we have our sad times but on the whole life is fun, we dont dwell on things too much and prefer to focus on the positives rather than the negatives. Rudy is now smiling and laughing (we are not sure if this is a result of him maturing or Vigabatrin, the only drug we decided to give him to help calm his siezures and so enable him to have more eye contact and focus). Rudy is so gorgeous and brings us so much pleasure, he is a dream. Of course our other little angel Miller has given us the strength to do this and even at our darkest times he still managed to make us laugh, for him we will always be eternally greatful.
Our gorgeous Rudy passed peacefully away in our arms at home on December 4th 2012. We love and miss him everyday.