Parents Share Hope, Concern Over the Future for Daughter with Niemann Pick Type C
July 23, 2014
They say life can throw a curveball at you at any time. As a mother of a child with Niemann Pick Type C (NP-C) I know how that feels. Our curveball was thrown in 2007 when Hollie was diagnosed with the disease and we were delivered the news that it was an extremely rare genetic disease for which there was no cure and which was, neurologically degenerative speaking, predicted to worsen over tim.
When someone tells you your child is not going to live into adulthood and may not even survive past the age of 10, everything changes.
Every one of us has hopes and dreams for our children, aspirations and milestones that we look forward to. We too still have those dreams for Hollie but there is a realism that a diagnosis of NP-C may mean some of those dreams and aspirations are never achieved although we never give up hope and continue #DreamingofaCure.
In the past 9 years Hollie, has met milestones we never thought we would see and achieved things that reduce us to tears of joy. Simple things that others may take for granted are magic moments for us to be treasured and held onto in our memories. You see for anyone given the life changing news that a loved one has NP-C there are no timeframes, nothing is certain and there is much which is unknown.
For many years it can be the ‘unseen disease,’ a ticking time bomb doing damage deep inside the body. It has complete control and will decide when it will show itself. We know it’s there, because it’s a genetic disease and it has been there since Hollie was born. The cholesterol and fatty lipid storage which is a feature of this disease attacked her liver with ferocity at a young age. She was six weeks old when doctors at Kings College in London said they did not think she would survive without a liver transplant.
At that time no one had any idea she had NP-C. It’s so rare that it never comes top of the list of possibilities. But like many with this disease Hollie came through her first battle with NP-C . Her liver recovered from severe damage and her spleen, although still very big, decided it would start to play nicely (with some extra precautions and a spleen guard).
In 2009 Hollie visited the National Institute of Health in America– her first trip of many, where she enrolled onto the natural history study into Niemann Pick Type C. We knew this trip would not result in any immediate benefit to Hollie but we were determined to do what we could as parents to help researchers learn more about the disease in the hope that one day it would bring the hope of a treatment or cure. It was on this trip that we realised NP-C really was doing unseen damage, setting the scene for a future of uncertainty and devastation.
Hollie was showing signs of restricted upper eye movement and others markers for NP-C were present. Symptoms so slight that it was still very much a hidden disease but for us as parents it was a devastating reality that there was no room for complacency. Five years on from our first trip to NIH and many more specialist appointments in between and this disease continues to develop momentum. We are so thankful for the fact that at the moment that for most it is still the hidden disease which could easily go unnoticed to the naked eye but for us as parents and for those supporting Hollie or close to her we can see undeniable subtle changes.
Every parent’s journey with NP-C and their experiences with the disease are so very different. We can attend an event or a clinic appointment with a number of other families, many who have children of a similar or younger age to Hollie and the devastation this disease is inflicting is easy to see along with the variation of disease progression. One year to the next it’s easy to spot changes in the children as the disease progresses. For me personally that has to be the hardest part. Some children are so severely impacted whilst others are like Hollie, still singing dancing, and talking but fighting a very big battle behind the scenes which causes huge emotional strain.
We are on a certain path on our journey with NP-C and one thing I know for sure is that whatever stage you may be on the journey it brings with it its own set of emotions. Sometimes these emotions can overwhelm and consume you and creep up on you from absolutely nowhere. It can be as simple as being at the coffee machine at work listening to colleagues talking about their own children and college, university or weddings or it can be when people in passing say to you ‘you have all this to come’. You have to catch your breath for a moment and hold on to the emotions because there is an awful cruel realism that this may not be something you ever see. To the person making the comment they have no idea how sad it makes me feel. Paint on a smile and move on with my day.
The fact that Hollie has NP-C never leaves my mind for a second. We know this disease could take hold at any time but until then we hold onto hope and keep #dreamingofacure.
by Helen, Proud Mummy to Hollia, age 8 (Np-C), Joshua, and Lucas.
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