Hollie's Story written by Helen Carter
In July 2007 we were given the devastating news that Hollie had Niemann Pick Type C. The road to this diagnosis was a long one with plenty of lows and a few false highs. It took two years for us to finally be told what was wrong with our beautiful daughter. Hollie was born on the 11 June 2005 weighing a small 5lb 11oz. She was the most longed for addition to our family and her brother Joshua was as proud as punch to have a little sister to show to his friends. It wasn’t until 8 weeks old that we were told Hollie was very unwell. She had a distended stomach and jaundice. We were referred to Kings College Hospital for a number of invasive tests including liver biopsies and bone marrow aspirates. Throughout the whole period I had this overwhelming urge to pick Hollie up, wrap her in a blanket and run away from all the horrible things that they were trying to do to her. I wanted everyone to be wrong when they said she was ill and for a short period we really began to believe they were when suddenly, after all the traumatic testing, Hollie’s liver functions began to return to normal and to everyone’s amazement she appeared to recover. We were told Hollie could be discharged from the liver ward and we were put on six month review. The relief was overwhelming, we felt like all our Christmases had come at once. We began to settle back into a normal routine and put the past few months behind us. Hollie began to grow, started, babbling, eating solid foods and learning to crawl. Her jaundice had completely cleared and she looked so well apart from one niggling aspect that still played at the back of my mind – the size of her tummy. As the liver had began to reduce in size we expected her tummy to come back into proportion as well but six months on it still looked as distended as it had in the early days and sometimes more so.

At her first six month review we were delighted to hear that the ultrasound and blood results had shown that her liver continued to improve and her liver functions were getting even better. Her spleen however was a few cm’s bigger but of no major concern. The six months visits continued and at each one her spleen would be increasing but again no real concerns were raised – that was until our visit in early 2007 when we met with a new consultant, Dr Colin Ball. I knew straight away that he had new concerns about Hollie’s “undiagnosed liver problems”. He explained that the spleen had grown to a large 14.5cm on the ultrasound and that a spleen is a very sympathetic organ that would not keep enlarging unless it was trying to ring alarm bells. In passing he mentioned the phrase “storage disorders” but that didn’t sound that bad to us and we felt no reason to be unduly alarmed especially as we were told the further liver, bone and skin biopsy were purely precautionary to check there was nothing they had missed that they could be helping to manage. Hollie was admitted back into Kings in the March and underwent the further biopsies under sedation. A week later I called the hospital registrar from my office and asked for the results of the liver biopsy. He was extremely reluctant to speak to me but when I pressed him for the results he just blurted out that they thought Hollie had NPC and that any time from the age of 2 she would begin to decline losing all the motor skills she already had. He told me to look on the internet and come back in six weeks when the results should be through. The conversation ended with him saying “I am so sorry, she had been doing so well”. The pain I felt at that very moment was immense, I rushed straight to my computer and typed in NPC. What I was confronted with was horrendous. At that point friends assisted me from the office. How could someone give a diagnosis so devastating to a family in such an inappropriate manner?

Ten weeks later the definite diagnosis of NPC was confirmed and thanks to the support and kindness shown by the NPDG, Toni Mathieson and Jackie Imrie during those early weeks we have somehow managed to get through each day. Each day is long and extremely hard, the thought of NPC does not leave my mind for more than ten minutes a day and its good to know that whenever a question pops into my head or I am feeling low I can always get support from the charity instantly at the end of an email or phone.

As for Hollie she continues to grow and develop into a gorgeous little girl with a determined, strong willed personality!

She loves doing all the normal childhood things like riding her bike, dancing along to her favourite songs and watching the MK Dons!! There are so many things we want to do and places we want to take her and her brother Josh, to build lasting memories and we are also determined to do all we can to fight this disease for as long as possible as the alternative is too hard to bear at this time.

We have endeavoured to try and think positive about the future by launching our “Hope for Hollie” campaign. A campaign that has been set up to help raise awareness of the disease and to raise funds to help aid research and assist the charity in its support work to families. To date the campaign has raised a staggering £35,000.

Our “Hope for Hollie” charity ball which took place at Stadium:MK in Milton Keynes back in April was attended by over 500 people, including a number of the MK Dons players who have been an amazing support.

Entertainment was provided by X Factor finalist Niki Evans and the Littler Britain tribute act. The event was a huge success and raised an amazing £26,000. We now plan to make the “Hope for Hollie” ball an annual event on the calendar and aim to continue with the “Hope for Hollie” campaign over the coming years.                     

 

 

Pete and I were extremely honoured to present the charity with a cheque for funds raised through the Casino Royale charity ball at the recent NPDG (UK) Annual Family Conference, held at the Hilton Hotel, East Midlands Airport in June 2008.”