Ceroid lipofuscinosis, Batten disaese, CLN – is a rare, genetic disease. It is not easy to tell a child about it. Mum and dad are not only carriers of the disease but also they pass a mutated gene and there is only 25% possibility of doing that. We could have not pass it at all, or pass it only from one side. In that case everything would look different… We are no longer imaging how would it be like...
We were looking for the diagnosis for 1,5 year mainly due to the fact that it was hard to cooperate with medical staff. Parent is quite often believed to be oversensitive.
What the disease is about? Easy explanation
Cell metabolism – everything happens at that level. The synthesis process in the cell produces waste - deposits of fat and protein. Healthy body cleans it with an enzyme. Kuba does not have enough amount of this enzyme. Not removed deposits clutter the body which begins to protest. The largest harm is done in the nervous system, disabling the subsequent functions and features. In our case this enzyme is a tripeptidyl-peptidase (TPP1). According to the medical classification the lack of the enzyme creates the Batten disease, type 2. The enzyme level itself is a part of the information and the second is the rate of synthesis processes in cells. On these two factors - the pace of development and waste disposal depends how quickly the disease destroys the body.
What is happening?
Seizures were the first symptoms of the disease and all of the earlier ones were believed to be a part of a normal child development. For 2 years he was growing up fast. He was always full of life. Then it looked like he slowed down a little. He learned less words, sometimes ignored what was said to him and his eyes were working unusually due to the defect of vision. When I was able to control epilepsy pharmacologically myoclonus began to appear –not intentional movements. Once there were sporadic, I thought they were tics.
Kuba turned 4, made a lot of progress working intensively during additional classes. In the meantime the motor skill problems occurred: he was afraid of stairs, he was shuffling, his hands were less smooth, shakes of the trunk and sudden falls occurred like his body was losing strength for a minute. MRI showed atrophic changes in the nervous system. EEG was relatively good. Then the disease has been diagnosed. At the age of 5 Kuba’s disease is still developing, he does not see well, mostly listens and often muses. It takes him much longer to fall asleep and he wakes up at night. There are also fewer words that he can pronounce. Sometimes he cries so hard that only a walk can help.
- We are still waiting what the time brings. Rehabilitation?
It is hard to say how helpful the rehabilitation is as there is no reference point. I can assure with the full responsibility that it has helped. Some people claimed that there is no point of doing that as “he won’t get better”… These words are like long, dull needles.
We are currently participating in a dog therapy, speech therapy, physiotherapy, psychomotor activities, behavioral therapy, sensory integration therapy and physical therapy. Kuba meets his favorite ladies every day, a lot of them works in the DOGOnić Świat Foundation (and they are mostly named Ann).
All of the supplements given to Kuba are experimental and we are observing them but it is hard to draw firm conclusions. Other parents are the best councilors but each child can react to meds differently. One would give him all the supplementations that are heard about in hope that something will stop the development of the disease. We still know little but I am writing about everything that we have come across as it may be helpful to someone else. Who knows maybe by doing that we will receive some new, crucial information.
We were considering vitamin C infusions but there are few places that take care of children. I know parents of the CLN children who are pleased with infusions as they have helped with resistance improving efficiency and having bactericidal action. According to experts, Kuba is still too young for that. However we found homeotherapy extremely helpful as it comes to restraining infections.

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