Marika is mum to Nel, who was diagnosed with CLN6 Batten disease. She shares Nel’s story

It’s night, and everyone is asleep. Unfortunately, this night isn’t one of the nights I’ll sleep through. Tears and sorrow have won this night. Beside me lies Nel, diagnosed with Batten disease, CLN6.

But let me start from the beginning…

Nel was born on 10/08/2016, and everything was fine until 2019 when she turned three. Nel, like every child, played, talked (a lot), ran (the best athlete I know, always at full speed), jumped, danced (which we share as a common trait), sang (she loves to sing, our home constantly resonates with new tunes). There was never a problem with Nel; she very rarely got sick and always found something to occupy herself.

All mums know their children best, they know everything about them and feel everything together with them. It’s our gift, mummies, and we should never doubt it.

So, I noticed that Nel started to lag slightly behind other children in speech (at the age of 3-4). The preschool teachers confirmed this but said it was normal for bilingual children. I gave Nel and myself some time. However, the longer I waited for improvement, the more words Nel lost. We waited a long time for an NHS speech therapist, so we decided to undertake private speech therapy. It didn’t bring any improvement.

Another issue that worried me was Nel’s motor skills, both fine and gross (with which Nel never had any problems before). Nel began to lose balance and physical fitness, meaning it was increasingly difficult for her to jump and climb various objects, like on the playground (at the age of 5).

As above, I had to ask and wait for help from the NHS, hitting a brick wall. Then, I got information from the school that they suspected autism in Nel… I laughed under my breath… How could Nel, the most social child I know, have autism??? I disagreed with their diagnosis and didn’t allow them to label her with autism just to get rid of us (which is very common in the UK).

Continuing, we sought the best private physiotherapists in the UK. There were many… each saw some different dysfunctions in Nel. The diagnosis of SI (sensory processing disorder) was made.

You might think, where was the GP (family doctor) in all this? I’ll explain… or rather, there’s little to say because every time I scheduled visits for Nel, I was told that every child develops at their own pace and that everything was fine. So much for relying on the GP.

Nel started struggling in school. I had frequent conversations with teachers about Nel’s regression in learning and concentration problems, as well as frequent chewing on objects and fingers. Eventually, Nel received 1:1 teaching when she was in the 2nd grade (at age 6). Teachers started a SEN (Special Educational Needs) program for Nel.

There was a continuous struggle with the British healthcare system to get help. In my head, there were always questions like:

“What is happening to my child?”

“Why can’t anyone help us get an answer to this question?”

“What else can I do to find out what’s going on?”

The question was, what else?

Because without a green light from the GP, I couldn’t get anywhere further, to any specialists. We decided to have Nel diagnosed privately in Poland.

Year 2023

Finding the best doctors, arranging visits so everything aligned. A lot of tests, kilometers, nerves, and money. The first diagnosis heard in August: epilepsy…

It shook me a lot, how come? I hadn’t seen any seizures in Nel…

Another consultation at UCK in Gdańsk, confirmation of epilepsy, but genetic tests were required, for which we waited 5 months. Another 5 months in constant uncertainty, what is it? Where does this epilepsy come from? And where do the other symptoms come from?

During the “vacation” in Poland, Nel stopped running (I also forgot to mention that a year earlier (2022), Nel stopped jumping).

In November 2023, Nel began having problems walking, frequent stumbling, falling on her bottom, and loss of balance. So the year 2024 was filled with great hopes that this fight would finally end, and we would start effective physiotherapy for Nel. Nothing could be further from the truth, on March 3, 2024, while buying Nel shoes for PE, I received a call from the doctor in Poland with the diagnosis.

Batten CLN6.

“But what is that, Doctor?”

“It’s a neurodegenerative disease for which there is no cure, I recommend continuing treatment in the UK as Poland does not specialize in this disease.” And that was it… me standing with a bag of shoes in the store, not fully understanding what had just been conveyed to me, asking Uncle Google for help.

Reading the description of the disease, I couldn’t believe it, tears filled my eyes, I felt hot, and the world stopped… silent, hollow… only I knew the diagnosis…

My happiest child, my daughter, my best friend…

Fighting an incurable and life-stealing disease, step by step… fear arose…

I had tons of questions, Google showed that a child with this type of disease lives up to their teenage years at most. I shared the diagnosis with my closest ones, and everyone rolled up their sleeves and searched day and night for how we could help Nel.

But…

Without a British diagnosis, we can’t do anything… so the first thing I did was translate Nel’s disease documentation and schedule a visit to the GP. Wow… the GP, after many stupid questions like “what can they do?” referred us to a pediatrician specializing in epilepsy. Waiting for the visit felt like forever.

The pediatrician examined Nel, indeed something is wrong… we’re sending you for a head scan, genetic tests, EEG to geneticists and metabolic specialists – did it go so smoothly and easily? Of course not,  the fight with doctors and the fight for my child’s life had just begun… it was a battle, pushing with hands and elbows…daily calls to speed up visits because Nel’s condition was worsening, daily nerves caused by silence and lack of action from the doctors… long waiting times for contact with doctors, helplessness, but also determination, which allowed me to function and act.

Help came from the BDFA

A quick email to them with a brief description of the case and an even quicker call from Sarah, the Family Support and Advocacy Partner, who gently but thoroughly helped us understand the nature of this disease, and also what help and from where we can get it to speed up and piece everything together, to learn to function in our new life titled Batten.

To summarize the part about doctors, we finally ended up with the Metabolic Group on Friday, 26.04.2024. Manchester Royal Hospital, another hospital right after Liverpool Alder Hey and Leighton. There were 7 people in the office, each interested in Nel’s case, she was happy because all the attention was on her, and she loves meeting new people and making contact with them.

After an interview about Nel’s entire treatment history, it was time for her examination.

Nel couldn’t get up from her daddy’s lap, standing on her legs she trembled and couldn’t take a step, her legs gave way, but only for a moment. Nel is a little fighter who won’t give up so easily.

Nel walked out with the doctors into the hallway so they could see her walk, she took a few steps, but someone had to constantly support her to prevent her from falling, which made Nel angry because she always wants to do everything by herself!

From an independent Nel, she became fully dependent on every level, aware of what’s happening but not understanding why. Did we try to explain it to her? Partially, as much as we could… Nel also has a disturbed mental development, it’s hard for her to express her emotions and understand what is sometimes being said to her.

The doctors unanimously confirmed the diagnosis from Poland, once again the same hell, extinguishing hope that it might be something else… nothing else but Batten CLN6 and all the guidelines regarding the disease and how to cope with it.

Again, fear, which is always deep within me. But now it’s our time… time to create memories and a time for a mighty fight for Nel’s life because who if not us.

Nel is among us, cheerful and fighting with her legs to walk, fighting to communicate.

But still radiant and happy.

And most pleased when riding her blue bike.

And I, as a mom? Supporting her in everything she wants to do, Cheering when she wants to do something herself, loving her unconditionally and fighting to make every day easier and special for her.

So now we have a wish list and live in the moment. I didn’t know what that really meant until I understood. We must continue day by day for Nel and for other children. Sometimes I have to put my feelings in a box and let them out only for a moment when I’m alone. Now everything revolves around creating memories, moments.

Hoping that someone will save my child, my little warrior Nel.

3:00 AM, I’m finishing writing a story of almost 5 years in 1 hour.

Good night xx