”We found the strength from somewhere to keep going and we are very proud of what we have achieved from then until now”
I’m Gail, proud Mam to our precious sweethearts Louis Nicole and Jessica and together with my husband Matthew we live in Throckley, Newcastle in the North of England.
Louis is 12 years old and is unaffected, Nicole is 11 years old and Jessica is 7 years old.
Nicole and Jessica were both diagnosed with CLN2 Batten Disease in late 2016, Nicole in the September and Jessica in the December. Nicole was 4.5 years old when we received her diagnosis after two years of seeing our precious girl regress and have seizures but not knowing why. This is a particularly painful part of the journey because at the time, we didn’t realise why she was suddenly struggling to hold a cup, or use a fork etc. We never knew we were witnessing ‘the last times’ Nicole could do so many things.
Our world and our hearts broke when we were told why all of these awful things had been happening to our beautiful girl. Being given the diagnosis is a heart stopping pain, a searing physical pain and hearing the words “Batten disease” … is the end of life as you knew it.
We didn’t know how we would carry on, how we would find the strength to get out of bed. The mere notion of ever being able to smile again was incomprehensible.
The following days and weeks were a blur. How we managed to function in the days that followed, I do not know but we did because our children needed us. We were so certain Jessica would be ok as she was so different to Nicole but our worst fears were realised when we were given the news Jessica also had this devastating disease.
At this point, we knew how horrific the disease was so to imagine that both of our darling daughters could share this condition broke our hearts even further, which we thought, was not possible.
We found the strength from somewhere to keep going and we are very proud of what we have achieved from then until now.
We are thankful that both girls receive Enzyme Replacement Therapy, which is giving them the opportunity to life a longer healthier life. Treatment is hope and we hope with all our hearts that more treatments become available for all variants of this dreadful disease.
Matthew and I are passionate advocates and set up our foundation The Nicole and Jessica Rich Foundation in January 2017 shortly after the girls were diagnosed. We wanted to create something positive to make a difference to our family and to the Batten community through campaigning, awareness raising, fundraising and supporting the BDFA.
I am very proud to be a volunteer Peer Befriender in the BDFA Peer Befriending service, which was launched in 2022. It is a unique way of supporting families by providing a listening ear, emotional support and most importantly showing them that they are not alone and that they are talking with something who truly understands how they are feeling. It hopefully provides a sense of comfort to the befriendee’s that I can empathise with their situation because I have been in their shoes and have an understanding of the struggles and complexities living with Battens brings.
To know that I can use my own personal pain and experience of living with Batten disease for over 6 years to provide support to others and show them that they will be ok, is the most rewarding part of this role.