“This devastating journey has taught our family just how precious life is”
Liz Rich, grandmother of Nicole (8), Jessica (4) both with CLN2, and their brother Louis, gives us a grandparent’s perspective on how Batten disease impacts the whole family.
In September 2016 my husband William and I were about to board a plane to Turkey, when our son Matthew called. He sounded distraught and asked us if we could come straight away. He said it was about our granddaughter Nicole but couldn’t bring himself to say what it was. Instinctively we knew it was very serious. Our luggage was unloaded from the aircraft and our other son William was waiting outside the terminal building to drive us home to collect our car. We drove in silence from Glasgow to Newcastle.
I will never ever forget the pain and anguish of that day. As parents our job is to love and protect our family, but here we were hearing the most devastating news about our darling granddaughter and there was absolutely nothing we could do to make things better.
We had never heard of Batten disease. Matthew showed us the leaflet they had been given at the hospital spelling out the journey that lay ahead for our precious family, and the horror of this cruel disease became apparent. The long and frustrating road to diagnosis had now given us a name for the disease – a name which we have come to hate so much. We had so many questions but felt we couldn’t ask, firstly we didn’t want to cause Matthew or Gail any more pain, and secondly, we really didn’t want to know the answers!
We stayed with them and we all tried to hide our emotions from the children. We took them to a small soft play and I remember taking photos of the five of them together wondering how many more we would be able to take given the devastating diagnosis.
The following day we went with Matthew to the travel agent and booked a trip to Disneyland Paris for Matthew, Gail, Louis and Nicole. Given that Jessica had just turned one, and this would be a special memory making trip for Nicole, it was decided Jessica would stay with us. William and I felt so helpless. There was absolutely nothing we could say or do to take Matthew and Gail’s pain away, so we focussed on being there to comfort them and provide any practical support we could.
William and I always dreamed of taking our family to Disney and on Mother’s Day 2015 when the scan picture (which is now our darling Jessica) fell out of my card, saying “one more for Florida,” we were thrilled and made a promise that when our six grandchildren were old enough, our little family of 12 would go to Disney. The day we learned of Nicole’s diagnosis we felt our hopes and dreams for the future were over.
On 5th December 2016, William was driving Matthew, Gail, Louis and Nicole to Glasgow airport for a special memory making trip for Nicole to Lapland when they received Jessica’s diagnosis. I had Jessica in my arms when Matthew called to tell me and I felt my knees buckle. I remember crying out “No, No, No!” but it was true and our hearts shattered in a million pieces.
Treatment and the future
Matthew and Gail bravely made the decision for the girls to have brain surgery to insert a device which allowed them to receive fortnightly infusions of Brineura, Nicole at GOSH and Jessica in Hamburg. Every two weeks Matthew travelled to Hamburg with Jessica while Gail took Nicole to GOSH. I would drive down from Glasgow to Newcastle to be with Louis to provide the continuity of being in his own home and going to school.
I worked in the bank and was fortunate to be able to work from home whether that be Glasgow, Newcastle or GOSH. However in 2017, after 25 years, I left my job to be able to have the flexibility to travel up and down when needed. I see first-hand how this affects Louis and my heart breaks watching him wave off his mummy, daddy and sisters for three days every fortnight. Hopefully in the not too distant future the girls will be able to receive their infusions in Newcastle which will mean the family won’t need to be apart.
We are, and always have been, a close family but this devastating journey has brought us even closer and taught us just how fragile and precious life is. Matthew and Gail have never stopped fighting for their girls and we are right behind them every step of the way.