22 Feb Bernharð’s Superhero Story
Bernharð is a SLC13A5 Superhero. Here are a few fun facts Bernharð’s family shared with us!
- Name: Bernharð
- Age: 4
- Homecountry: Iceland
- Bernharð has a support dog named Jaki, which means “Iceberg” in English. Jaki is a labrador retriever trained give an alert two days before Bernharð is having a seizure.
- Bernharð is quite a little farmer and loves everything on wheels, especially tractors. He can spend the whole day in the tractor with his dad.
- He loves tractor driving and playing outside in the mud, but nothing makes him happier than feeding the cows and sheep. He’s a real animal carer by nature.
- Bernharð loves to tease people and makes million dollar face when he does so followed with very infectious laughter.
- Summer is Bernharð’s time to shine! He loves being outside jumping on the trampoline and playing in the garden, getting muddy from head to toes. This does so much for his development of skills and it’s also the time he gets to do most farming, tractor driving and attending to the barn animals.
- Bernharð is a very social person never shy to anyone and makes an eye contact with everyone he meets, usually followed with a smile to die for! He prefers men to women and one time at the hospital after a seizure he was with his mom in the hospital room when three male doctors arrived in the room. Bernharð demanded them to pick him up and after having his wish granted he waved farewell to his mom.
- Bernharð loves music and dancing, his favourite song is “wheels on the bus” as he knows the whole song and makes his signals for every scene in the song.
Bernharð’s Medical Journey
Bernharð Leó was born on the 28th of September 2018 at 3pm in Akureyri, in a town in north of Iceland. He is our fifth child and has four older sisters all whom escaped the SLC13A5 gene disorder. We still don’t know if they are carriers. When Bernharð was born, his skin was a bit blue and it took him some time to breathe normally. It seemed to be a bit of a struggle for him.
When we look back to the day he was born with the knowledge and experience we have now, it’s very clear that he was having seizures in his first hours out of the womb. He never got to breastfeeding in his first hours and in the night, his mother was getting very worried that something was not right. During that night he was having a long and strong seizures. At first the midwifes thought he had some amniotic fluid in his lungs. The morning after it became clear to everybody that something more serious was wrong. Around noon he was transferred to intensive care for observation and treatment with antibiotics and anticonvulsants as it was clear he was having seizures and danger of some infections.
In a EEG the next day, there was evidence of some brain damage and the first conclusion of the medical staff was that these damages were caused by lack of oxygen in the birth process. Later that night he was flown to the national hospital in Reykjavík and put in the emergency department for further treatment. Before the transport, he was anesthetized. After about a week he finally opened his eyes again and woke up from his anesthesia. From that day he proved every worst case scenario predicted by medical staff wrong.
He made some great progress in the next few days, leaving doctors surprised by his fighting spirit and determination. When he was two weeks old, he finally was thought to be stable enough to go home. But only few days later he had his first seizure at home which led to another two weeks in the hospital in Akureyri. His whole first year Bernharð had seizures approximately once a month and usually around the 11th or 12th of every month. Nowadays, he goes from having small seizures every few days to having larger ones with some months between them. His longest seizure apart from the first one lasted five hours. We have had countless ambulance rides these last four years and for two occasions he’s had anesthesia. The nearest hospital that can treat his seizures is 120 km away from our home. The biggest challenge at first was not knowing why he was having seizures, wondering if he would ever wake up from his anesthesia and if so, if he could live with his brain damage and the effects it would have on his life. Later challenges were being able to recognize the seizures both when they started and when they had stopped.
When Bernharð was 3 ½ months old, he was diagnosed with SLC13A5 on his oldest sister’s birthday on the 11th of December 2018. Today Bernharð has to take three types of anticonvulsants and thyroid medication. Our biggest challenges are facing the welfare system and getting him the support and care he needs and has right to for him to be able to live as normal life as possible with his friends and family without having constant fear of seizures.
Bernharð attends kindergarten where he has a lot of very helpful friends to take good care of him and treat him fantastically well as an equal. Bernharð has speaking therapy at kindergarten and goes to physiotherapy once a week. He also gets a lot of therapy from having older sisters that stimulate him in so many ways. Bernharð lives on a farm and participates in farmwork with his family which also helps develop his skills. He uses his own version of sign language to communicate. All his abilities have made good and steady progress like balance, movement, and fine motor skills. Crawling and playing are now no problem and he even sits on his own on lower chairs. He’s made great development towards walking and goes for short walks with his walker given to him by his wonderful support family. And just recently he found a way to crawl up the stairway in his house, giving his parents mixed emotions of pride and fear over his climbing addiction.