In 2008 my dream came true I became pregnant from a girl. After a quiet easy pregnancy of exactly 40 weeks Noa Luna was born. A beautiful baby, she was perfect. Normal weight, length, Apgar score 9-10. I gave her breast feeding, she drunk if she has always done this. She was very quiet relax baby. But after 2 months we saw strange movements.
After 3x visits to the doctor they send us to the hospital and the same day the doctors told us its epilepsy. This was a big shock to us. We are very positive people and were still on the pink cloud with our daughter and life went on.
After a couple of month the medicines didn’t work and we were send to another hospital in Amsterdam. Than at the age of 7 months we received the hard breaking news Noa has CDKL5.
She will never walk, talk and will stay like a baby. Our hearts were broken. Luckily we have each other, friends and family to support us but acceptance of this news will take a long time. Looking back I have the feeling that the first couple of years she only drink/eat, slept and was completely happy with just sitting on our lap.
When Noa became 2 years old she got a brother Quintin and later on another brother Kaj. Both brothers are normal healthy boys are doing great a school and love playing football. They love their big sister and taking care of her. As a family we go out a lot and during holiday period we travel and Noa is always coming with us.
When Noa was 14 months we transferred her from a normal daycare to a special day center for handicapped children. This was a big step in the acceptance. In the beginning you want to think she doesn’t belong her but deep in your heart you know she does. This day center is for +/-70 children with different syndroms but all with a mental IQ below 2 years. Noa can stay in this day center until she is 18 years old. She started with 3 days a week, and at the age of 5 it became 4 and after that 5 days. The days are normal school hours 8.30-15.00. At the day center she receives also physio and logo therapy. In 2018 they also started with a weekend house. So since Noa is 10 years old she stays at the day center from Friday until Sunday afternoon once a month.
At the age of 4-5 years Noa started sitting and she is still doing this. She can roll over. She can walk with a walker but a lot of time she stands still. Noa can not talk but as with a baby we know the basics like when she is tired, hungry, sad and or happy.
As almost all CDKL5 children Noa has seizures since she is 2 months old but the older she get they become less. She has absences, tonic and tonic-clonic seizures. All very short max 5 minutes. She always get out of the seizures herself and then just goes on with what she was doing. She has used the following epileptic medicins: Fenobarital, Depakine, Orfiril, Frisium Kepra, Sabril, Lamotrigine now she is only using Topamax
Other medical challenges
Noa has no other medical challenges besides the epilepsy. She sleeps normal, eats everything when it’s soft. She is normal height and weight. She only has small hands and feed.
Noa goes 3 times a year to the hospital to visit the child neurologist and 2 times to visit the revalidation arts. The last is to check her hips and back. Until now is still straight but she still has to go through puberty.
Noa has the following special equipment: Wheelchair, for in house eating chair, spalks to prevent during meals she is putting her hands in her mouth, elevator in house to bring her to her bedroom, special bed which goes up and down, brancard with shower to clean and dress her, elevator in a special bus to drive her.
From day 1 Noa is an easy going girl. Of course she lives for a big part in her own world but I know that if she was healthy she was also a quiet, easy and beautiful girl.