Alice’s Charm

Alice was born a seemingly perfectly healthy little girl who ate and slept well – and charmed everyone with her long eyelashes. Strong minded and stubborn, Alice loved to climb and jump, do puzzles, read books… abilities Alice would soon lose.

Living Batten | CLN7 Family Patient Story

Alice’s Charm: CLN7 Subtype of Batten and Diagnosing Genetic Rare Disease

Alice was born a seemingly perfectly healthy little girl who ate and slept well – and charmed everyone with her long eyelashes. Strong minded and stubborn, Alice loved to climb and jump, do puzzles, read books… abilities Alice would soon lose.

Three years later, we experienced another miracle when Alice’s little brother arrived. She was such a proud big sister! Not long after, Alice started falling. Climbing stairs became difficult. Alice started eating with her hands again. When she started a new preschool, she could not keep up with the other children. We thought all this could have been a reaction to the new baby. When Alice was almost 3 years old, she was prescribed glasses. The eye doctor did not believe that Alice was having motor problems because of her eyesight, and recommended we see a neurologist.

For two years we searched for an answer…

Alice continued to lose motor control. She started nodding, her posture changed. She fell on all fours and remained there, rocking on the floor. Various neurologists ordered tests but the results didn’t give us any answers. The time passed so slowly, waiting for doctor’s appointments, waiting for test results, yet trying to live life as usual. We googled through the nights, searching for clues. Alice continued to decline. She lit up when she met her friends but was no longer involved in their games. Soon, Alice stopped walking. She no longer wanted to stand on her own two feet. We were at a loss.

A few months later, Alice had her first major epileptic seizure. And later the same day, her second one. The seizures pointed us toward an epilepsy diagnosis.

Alice was diagnosed three months after the seizures began. The genetic test results arrived: Neuronal Ceroid Lipofuscinos (NCL). It is because of this disease that she can no longer build towers with bricks. It’s why she cannot jump on the trampoline with her little brother. It is because of this horrible disease that our little girl will not be able to learn to ride a bike or climb a tree.

There is no cure for NCL. Yet, we felt relieved to finally get an answer. We were told to go home and accept that our daughter would not reach adolescence. We could not accept this. We started searching for information on the Internet. We quickly found families and research studies in the US. We felt hopeful again.

Alice, at 7 years old, seems to be almost completely blind. She has no speech left but she communicates in her own way. She cannot stand, walk, or sit without support and she needs help getting dressed and undressed. Alice got a button in her stomach (PEG) – mostly for preventive purposes and for us to be able to provide her with fluids. Today she only gets fluid and medicine in the button. She eats food through her mouth, but needs to be fed. Alice wears a diaper and uses a corset to prevent scoliosis as well as leg splints to support her gait. Alice isn’t completely wheelchair bound. However, she needs help walking and needs a trolley/wheelchair for longer distances or to get to a destination quickly. Some days are better than others and eventually she will need a wheelchair all the time.

Alice is a happy girl and very patient. She loves other children and physical contact. Since she no longer sees, she has to rely on hearing and feeling.

Today as we entered through the gate of Alice’s preschool, the children were sitting on the stairs waiting to go out. One of the children shouted, “NOW ALICE IS COMING!!” and all the children rushed forward and gave her a group hug. They caressed her on the cheek, took her by the hand and said, ”Hello Alice!” What child wouldn’t grow from such treatment?

We are often asked how do you manage to fight this fight every day? What choice do we have, to give up on our own child? Our hearts break when we think that she will not grow up like her friends. We try to live in the present, take advantage of every day, and live our lives as best we can. Alice is still here and we enjoy every minute with her. We are determined to help her to be the child she deserves to be!

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