‘Is Nicole going to die?’ It started with a twitch. Then she turned blue. It was like an arrow to the heart.’: Sisters diagnosed with ‘ultra-rare’ Batten Disease, ‘We’ll never stop fighting for them’

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“We are the Rich family, Gail and Matthew, and our three beautiful children, Louis (10), Nicole (8), and Jessica (5). We live in Throckley, a village just outside of Newcastle in the northeast of England. Our children are our world and we were blessed when they came into the world: Louis on September 2, 2010, Nicole, 18 months and a day later, on March 1, 2012, and finally, Jessica arrived to complete our family on September 18. (A perfect early birthday gift, as my birthday is the 19th!)

Sadly, in late 2016, Nicole and Jessica were both diagnosed with an ultra-rare neurodegenerative condition called Batten Disease. Batten Disease is the cruelest condition you could imagine. Your child is born seemingly healthy, then they begin to lose skills and abilities one by one, as you helplessly watch. It takes away their ability to walk, talk, and feed. They begin to have seizures and they lose their sight. Their health deteriorates until they become fully dependent on you for every aspect of their daily life until they sadly pass away. We do not wish this disease on our worse enemy. It is brutal, it is aggressive, and utterly heartbreaking to watch your child suffer.

Courtesy of Gail and Matthew Rich

There are 13 different strains of Batten Disease. The strain our daughters have is CLN2 and thankfully, the first and only form of treatment there has ever been is for CLN2. Without this treatment, our precious daughters would not be expected to make it to their teens. Every 2 weeks, we travel to London to Great Ormond Street Hospital for the girls to receive the pioneering enzyme replacement therapy for a 4-hour brain infusion. CLN2 is caused by a defective gene in the brain not producing a special enzyme to clear waste and toxins. This waste builds up and the brain cells deteriorate and are unable to perform their job of transmitting messages around the body, which leads to the mobility and skills deteriorating.

The treatment gives the girls a synthetic version of this TTP1 enzyme. After 4 years of seeing the infusions taking place, it still overwhelms us. It is a miracle and we are so grateful to the incredible researchers, scientists, and doctors who are devoting their lives to helping the rare disease communities searching for treatments and ultimately a cure for all strains of this hideous disease.

Courtesy of Gail and Matthew Rich

On September 2, 2010, our darling Louis arrived and for the first time in my life, I felt I had found my place. I was meant to be a mom! Matthew was the best daddy in the world, and we were both besotted with our beautiful boy. I remember a few days after bringing him home, looking at him in his crib and bursting into tears and saying, ‘I just don’t want anything to ever happen to him. I want to keep him safe forever.’ It was the most real feeling of protection. Louis is 10 now, and we cannot put into words how much we love him and how proud we are of him. He is a sensitive, thoughtful boy, who has had his struggles watching his sisters go through what they have; surgery, testing, regular hospital visits.

Courtesy of Gail and Matthew Rich

Louis knows what Batten Disease is, and he understands what it does because he has seen it gradually take his sister’s abilities. He watched her go from running around playing with him to not being able to take a step without our help. He is very inquisitive by nature so asks lots of questions, which we answer. Some things are practical but others are much deeper. When he was a little younger, one question was like an arrow in our hearts. ‘Is Nicole going to die?’ It is devastating to think that is what was going through his mind. It highlights how cruel Batten Disease is and how it impacts the whole family so very deeply.

Courtesy of Gail and Matthew Rich

Over the years, he has asked questions like, ‘Will Nicole ever speak?’ or ‘I don’t want Jessica to lose her abilities like Nicole because I want to always be able to play with her.’ It breaks our hearts and we just wish we could take it all away. We tell him what he needs to know and include him as much as we can and is appropriate. He has to cope with our family separating every 2 weeks for the last 4 years as we leave him behind to travel to the hospital. We always try and make time just for Louis because our lives have changed so much with medical needs and feeding regimes unfortunately dictating our routines. People always tell us how polite and well-mannered he is and that makes us want to burst with pride, knowing we have done a good job! Louis is the best big brother in the world, and Nicole and Jessica both absolutely adore him.

Courtesy of Gail and Matthew Rich

I was induced 3 weeks early with Nicole and had been back and forth to the hospital for around 3 months for additional appointments because she wasn’t growing. It was an anxious time and the hospital said if we could get to 37 weeks, they will be happy. On March 1, 2012, at only 4 pounds, 8 ounces, our first little sweetheart came into this world! Matthew described bringing Nicole home as an explosion of pink! He was right! We had a little princess! That was it, we were instantly and completed besotted. There is nothing more precious in this world than having your baby placed on your chest for the first time and you feel their heartbeat and know they are yours. You have made this little person. You feel an instant overwhelming feeling of love and protection. We had to stay in the Special Care Unit for a couple of nights, just to make sure she was feeding okay with being so small but she had no problem at all.

She was such a healthy baby and for all she was little, she was strong as an ox! Little did we know, this would serve her well in her life. We have never been ones to compare and pressure ourselves with milestones as we had always thought that children will develop at their own pace. Because we had Louis, who was very talkative and had met his milestones with ease, there was the obvious comparison we could have made, but we were relaxed and went with the flow, as nothing was jumping out to us there was anything to worry about Nicole. She was crawling, eventually walking, then she became a daredevil! Climbing, running, loving the outdoors on the climbing frames and slides.

Courtesy of Gail and Matthew Rich

At the age of 2, Nicole hadn’t started talking, which was the first concern, but because Nicole understood everything we were saying and could follow our instructions, we just thought her language would eventually come. This prompted intervention from a speech and language therapist. Although the therapy didn’t help her to talk, it did highlight Nicole’s lack of concentration. When Nicole turned three and had still not spoken a word, we took Nicole to see a pediatrician. After a series of cognitive and behavioral tests, Nicole was diagnosed with Global Developmental Delay. Everything about her was delayed.

At age 3, the behaviors and characteristics she was displaying were that of an 18-to-20-month baby. The subtle regression we had been observing was far more serious than we had thought. We had been watching our baby girl deteriorate in front of our eyes, completely oblivious to the reason. Just days after the GDD diagnosis, Nicole had her first seizure. It was the most frightening experience of my life. With no history of epilepsy, we had no idea what was happening, and fear she was going to die went through our minds. It started with a twitch that traveled up her body. She then went lifeless, turned blue, and stopped breathing.

Courtesy of Gail and Matthew Rich

After being seen in the hospital, we went straight for an EEG where Nicole was diagnosed with focal epilepsy. The doctors thought there was an underlying syndrome but they didn’t know what. It was only when her mobility became an issue we knew there was something more going on. We kept returning to our pediatrician and neurologist and insisted they keep testing because we knew something wasn’t right. They eventually found out, and on September 16, 2016, we heard the words ‘Batten disease’ for the very first time and our world collapsed. Our road to diagnosis for Nicole was a lengthy one, spanning just over 2 years. Nicole was 4-and-a-half when she was eventually diagnosed.

On September 18, 2015, I was induced again and at 5:45 p.m., weighing 6 pounds, 1.5 ounces, our darling daughter came into the world. The second she was placed on my chest, I felt complete. Our beautiful family was complete. Because Batten Disease is genetic, we had Jessica tested as soon as we could and Jessica was diagnosed 3 months after her big sister. Jessica was completely healthy and was showing no signs whatsoever. In fact, she was already starting to say ‘Mommy’ and ‘Daddy’ and other sounds, so we had no concerns at all.

Courtesy of Gail and Matthew Rich

We thought it was impossible for our hearts to break any further, but they did. We were on the way to the airport to take Nicole on her ‘Starlight’ wish to go to Lapland. Jessica was only a baby, (15 months old,) so she was staying with Matthew’s parents in Glasgow. We had cuddled her and said we would see her in a few days. I still don’t know how we were able to get through and how we managed to hold it together as well as we did. I remember wailing and screaming. I felt like the life had been sucked from me. I have never felt so helpless or so weak. It was definitely a physical pain, but my mind was in pure turmoil. I remember pacing the corridor outside our hotel room, hysterically phoning our social worker, crying, ‘What are we going to do?’

Jessica started treatment at 21 months old as part of a ‘sibling trial’ in Germany and became the youngest child in the world to receive treatment. She paved the way for younger children to safely receive treatment and became a little pioneer! Because she was diagnosed so young, years before she would have been expected to show any symptoms and got access to treatment so young, Jessica is a completely different child from Nicole, showing no regression at all in her physical abilities. Her mobility has remained completely unaffected. She is running, jumping, hopping, climbing, and generally being a ball of energy!

Courtesy of Gail and Matthew Rich

This is in contrast to Nicole who is now fully dependent on us for every aspect of her life. Jessica is acquiring new skills and it is fascinating to watch her ingenuity and problem solving when faced with a challenge. Her social skills have come on leaps and bounds and it has been wonderful to watch her establish friendships at school like any other Year 5s. Every day, Jessica is proving to the world what is possible if children with CLN2 Batten disease are diagnosed and treated before symptoms start. The only reason we found out about Jessica’s is because of her older sister, Nicole. Otherwise, we wouldn’t have known until it was too late to save her abilities, so in a way, you could say Nicole has saved Jessica.

We see the difference early diagnosis can make every day when we look at our two daughters. The roles of our two girls have reversed and instead of the big sister looking out for her younger sister. It is Jessica looking after Nicole. It melts our hearts when we see how concerned Jessica is if Nicole is having a bad day. Watching our two daughters together, it is hard to believe they both have the same condition. Jessica is still doing all the things Nicole used to be able to do, but no longer can. This is purely because of being diagnosed and treated so young. It is very painful to see the things Nicole has lost and our hearts break when we watch videos of how she used to be. But we remind ourselves to be grateful. Despite what she has lost, she remains a happy, sociable, active little sweetheart who enjoys so much.

Courtesy of Gail and Matthew Rich

Her school is the most amazing place. She has access to wonderful therapies and loves the many amazing sensory experiences she has every day! Jessica is living proof the treatment works and early diagnosis and treatment can change the course of this dreadful disease. We believe, because of how well very young, pre-symptomatic children on treatment are responding around the world, that Brinuera will change forever the way the progression of this disease is assessed. It will no longer be focused on regression, how many skills lost, or if they have remained stable, but it will now look at recording new skills the child has acquired.

The truth is, nobody knows what the future holds, but we hope and pray Jessica continues to grow and develop as she has done up to this point and Nicole continues to have a full and happy life. Brinuera has changed everything for CLN2, and as a result, there are many research projects for new therapies and treatments to treat other forms of Batten disease, which are desperately needed. It is vital ALL forms of Batten disease are picked up far sooner than they currently are. Cutting down diagnosis time reduces the anguish for families, the possibility of frustrating misdiagnoses, and allows the family to get earlier access to the specialist support services they need.

Courtesy of Gail and Matthew Rich

As drugs like Brinuera become available, early diagnosis gives a better chance for therapies to have the best effect. Because Batten is such a rare disease and widely unheard of, the early signs are often missed by medical professionals. The BDFA’s Early Diagnosis Project will be a big step towards achieving a faster rate of diagnosis through education and awareness of all variants of Batten disease. We look forward to joining together with other Batten families and medical professionals on this important piece of work. We must find a cure for every type of Batten disease because every child deserves a chance.

Shortly after the girls were diagnosed, we set up our foundation to raise awareness and funds for Batten Disease. We wanted to do something positive and to make a difference in the Batten community and we are very proud of what we have managed to do with the incredible support of our friends, family, and followers! The community we are part of is incredible and we are so grateful to each and every person for their love and encouragement.

Without a shadow of a doubt, our children give us the strength we need to keep going. Their strength and resilience are a lesson to us all. They go through so much, with an innocent acceptance of their ‘different life’ and they rely on us to be their voice, to be their advocates, and to fight for them.

When we hear the word ‘no,’ we always say, ‘It’s not a no, it is just not yes yet.’ That is something we have learned to do— to breathe, to gather strength, and never give up. We advocate not just for our children, but for all of the other children, the brave Batten warriors who need to be heard and to be helped. We will never stop. It may not be the life we had planned when our babies were born, but we can’t change it and we have had to accept that and channel our energies into making a positive difference and showing Battens that we will not be beaten! We cannot control the disease but we can control how we respond to it. We want to bring hope to Batten Disease and we believe our little princess warriors do just that! Thank you for taking the time to read our story and we hope you will follow our journey alongside us and help us reach as many people as we can.”

Courtesy of Gail and Matthew Rich

This story was submitted to Love What Matters by Gail and Matthew Rich. You can follow their journey on Instagram, Facebook, and Twitter. Submit your own story here, and be sure to subscribe to our free email newsletter for our best stories, and YouTube for our best videos.

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