Rare Disease Day - Nicole & Jessica's Story
Today is rare disease day and to raise awareness we would like to share an amazing and heartfelt story from one of our customers and also to wish Nicole a very big happy Birthday for tomorrow from all of the staff at McElmeel Mobility Services
Hello we are the Rich Family From Trockley in Newcastle, Gail, Matthew, Louis (11), Nicole (10 on 1st March!) and Jessica (6).
When our darling daughters, Nicole and Jessica were both diagnosed with CLN2 Batten Disease in 2016, we made it our mission to raise awareness of this devastating condition. We hope that by sharing our experiences of living with Battens, we can bring hope to others.
Batten Disease is an ultra rare neurodegenerative condition which affects the brain and nervous system.
There are 13 different types of Batten Disease but the type our daughters have is CLN2. Both my husband and I have a faulty gene and our children had a 1 in 4 chance of being affected by the condition. Unfortunately, our girls inherited both faulty copies which resulted in them having Batten Disease. Louis is unaffected but he is aware of the fact that he has been ‘lucky’. He is the most amazing big brother and the girls adore him, as do we as his proud parents.
Children with CLN2 are born seemingly healthy and develop normally for the first few years of their lives, until around the age of 3 years old when symptoms begin to show. One of the most common symptoms are seizures. Epilepsy in batten disease is classed as ‘complex epilepsy’ because there is an underlying neurological condition. Seizures may be controlled through medication but it is unlikely, even with treatment, that they will become seizure free. Development begins to slow down and regression of skills and abilities will become apparent, they will struggle to do simple things that they once could do with ease. Speech will regress and they will become unsteady on their feet until they are unable to walk unaided. CLN2 Batten Disease results in vision loss over time and by the age of 6, most children will be completely dependent on their families and carers for all of their daily needs. Without treatment, children with this variant of batten disease are not expected to survive into their teens.
We are very fortunate that both of our daughters have received life changing treatment for the past 5 years. Their treatment involves fortnightly hospital visits for a 4 hour enzyme replacement therapy which is delivered directly into the brain via a port in their brain.
Nicole was diagnosed in September 2016 age 4 and a half, and unfortunately by then, she had lost some of her skills. It had taken over two years to reach a diagnosis as there are over 6,000 rare diseases and Batten Disease is widely unheard of. Our world as we knew it ended and we quickly had to become experts in this hideous condition. Our hearts were broken and we didn’t think it was possible to break any further but it did when Jessica was diagnosed in December 2016 aged just 15months old. It was a physical pain and we didn’t know how we would ever learn to live again, to smile again, to find joy again. But we did because we knew being strong was the only option and we had to fight to get our girls everything they needed to give them the best chance in life.
From January 2017 until September 2021, we travelled to Great Ormond Street Hospital in London every two weeks. During this time, we also spent 10 months travelling back and forward to Hamburg in Germany when Jessica enrolled in a Sibling Trial which was looking at the affects on treatment on younger siblings in the hope that treating the child early could prevent symptoms from developing. Jessica became the youngest child in the world to receive the treatment and paved the way for this kind of treatment to be safely delivered on young children.
In September 2021 our local hospital, The Great North Children’s Hospital in Newcastle made history and became the first non lysosomal disorder centre (batten disease is a lysosomal storage disorder) outside of London to offer this life changing treatment! We cannot express our gratitude to the team in Newcastle who made this happen. It has changed our lives immeasurably and we know it will make life so much easier for families who are diagnosed in the future to have a treatment centre in the north of the country. We are proud to have been part of something that will benefit others.
Nicole’s needs have changed over the years and we have adapted accordingly. From being a little dare-devil running, climbing and jumping everywhere, Nicole is now in a wheelchair and is fully dependant on us. Despite the challenges she has faced, Nicole is always full of love and happiness!
Because Jessica started treatment so early, you would never know she had the condition because she is doing amazingly well, attending mainstream school, riding her scooter, her bike, everything you might expect a little girl of her age to do. This shows the importance of getting an early diagnosis and the difference early access to treatment can make.
You can follow the Nicole and Jessica's journey on facebook, instagram and their new website
www.thenicoleandjessicarich.foundation
News Archive
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- 05/12/2017 Christmas Hire Information and Opening Hours
- 18/11/2017 Ford Grand Tourneo Connect Flexi - 5 plus wheelchair
- 02/11/2017 Brand New Mercedes Wheelchair Accessible Minibuses - Available Immediately.
- 26/10/2017 The Demise and Death of the Volunteer Driver.
- 11/10/2017 9 Seat Wheelchair Accessible Taxi
- 06/10/2017 NI Chamber Award for "Excellence in Customer Service"
- 29/09/2017 Running Boards and Side Steps on a taxi
- 08/06/2017 McElmeel Mobility Services – closer to you
- 20/04/2017 LOWEST MOTABILITY Advanced Payment on the Volkswagen Caddy Maxi Style - £1,995*
- 19/04/2017 LOWEST MOTABILITY Advanced Payment Berlingo in the Motability Scheme - £1,095*
- 14/04/2017 European Type Approved - Ford Connect 'Taxi' Spec
- 03/04/2017 WAV 17 Wheelchair accessible grant is now live
- 30/03/2017 WAV17 launches next Monday - April 3rd.
- 27/03/2017 A new Wheelchair Accessible Taxi in Belfast
- 10/03/2017 McElmeels Wheelchair Accessible Taxi Conversion
- 10/03/2017 Wheelchair Accessible Taxi Conversion - OPEN DAY - 15th March
- 13/02/2017 WAV17 launches in April 2017
- 16/11/2016 MiDAS Trainers in McElmeels
- 04/11/2016 Willowbank Wheelchair Accessible Minibus Handover
- 14/10/2016 Get a sneak peak of McElmeel Mobility's new NI compliant Wheelchair Accesible Taxi!!
- 07/10/2016 Award winning customer service is something to celebrate.
- 23/09/2016 Mobility Roadshow 2016
- 19/09/2016 NI CHAMBER WINNERS "EXCELLENCE IN CUSTOMER SERVICE" 2016
- 18/05/2016 Wheelchair Accessible Taxi Conversion for less than the €10,000 WAV16 grant.
- 30/04/2016 Does your WAV have a winch?
- 28/04/2016 G9 Guide - WAV16
- 18/04/2016 Transfer Plate
- 15/04/2016 Under what circumstances would I have to repay the Wheelchair Accessible Vehicle Grant?
- 15/04/2016 How do I apply for a Wheelchair Accessible Taxi grant?
- 15/04/2016 How long is the Wheelchair Accessible Vehicle Grant available for?
- 15/04/2016 Why does the Wheelchair Accessible Vehicle Grant exist?
- 15/04/2016 WAV 16 - Wheelchair Accessible Taxi Grants Ireland
- 05/04/2016 NSAI Approved for Conversion
- 30/07/2015 What Owning a Drive from Wheelchair Accessible Vehicle Could Mean for You
- 30/07/2015 Say yes to Guide Dogs - It's the LAW
- 20/07/2015 A unique invention has transformed a County Down teenager’s life: Allowing him to take part in running events, even though he can’t walk