Biel’s Superhero Story

Biel is our only child and he was born on November 17, 2017. He is now 5 years old. We live in a small town called Roda de Ter, near Barcelona (Spain). Biel came from a normal pregnancy. The birth also went as expected. He was born at 7:11 p.m. We spent the first night without sleeping too much, but we still felt great joy. We remember that in the morning we saw the sun rise from the hospital room while he slept peacefully. We were very excited about this new stage of life that we had just begun. But Biel had a cry that made us think that something was wrong, and about 15 hours after the birth he began to become cyanotic. From then on, everything got complicated. We notified the nurses and they took him to the NICU where they did many tests. They had taken out of our hands all the illusions we had.

He started having uncontrollable seizures. After many trials with many medications, they were finally brought under control. We spent 20 days in the NICU visiting him every 3 hours, day and night. We couldn’t believe what we were experiencing. We thought it was a nightmare. It is a distressing situation that you do not wish on your worst enemy.

We were finally discharged and went home with the medication that had been prescribed for us.

Biel has been growing like any other baby, but with a slight developmental disability.

Periodically, we were going to control visits with the neurologist, and having controlled his seizures at 7 months, we began to withdraw some medication, though not all.

It seemed that things were going well until at 8 months, specifically in July 2018, Biel began having seizures constantly one after another (always in the sleep phase). We ran to the hospital and stayed in the hospital, trying to control the hundreds of daily seizures with different medications. It wasn’t until after 15 days, without sleeping, that it was thanks to the doctors at the hospital that we began to have good results with a combination of drugs that we are currently still administering (clobazam, Topamax and Depakine). We zeroed out the seizures. We left the hospital with the certainty that we had been in the best possible hands.

Meanwhile, we had carried out tests and genetic analysis, and the results reached us in February 2018. Biel had an affected gene, SLC13A5. After the diagnosis, we researched on the Internet and found the TESS Research Foundation, where we contacted them to share our situation.

Due to his hypotonia, we began to carry out weekly physiotherapy and aquatic physiotherapy sessions. Due to hypotonia, Biel has respiratory problems and is often sick with bronchitis and we introduced respiratory physiotherapy in the therapies. Sometimes the bronchitis has made us enter Biel into the hospital. One of the admissions was for 15 days, in which we had to use a non-invasive mechanical ventilation team in the pediatric ICU.

Later, as there was no speech, we introduced speech therapy to work on non-verbal communication. We also introduced occupational therapy. Currently, Biel does not pronounce any words, but he is trying to make new sounds. A few months ago, we introduced a digital communicator so he can communicate through it.

Biel began to walk at the age of 3. He currently uses DAFO’s (Dynamic Ankle Foot Orthosis) to walk as he does not have controlled stability.

Until the age of 3 and a half, all the food that Biel ate was mashed due to his general hypotonia. We are currently introducing solid foods and we are working with a speech therapist on the orofacial hypotonia that Biel suffers from.

Thanks to the therapies and working hard, we are making progress. One of the best therapies that we have been able to give Biel is being able to attend the inclusive ordinary school. We believe that it is very beneficial to him since he receives a lot of encouragement from his classmates. In class, Biel always has a person by his side who helps him carry out activities that he cannot carry out alone.

Until the age of 2, Biel slept the entire night. From the age of 2, there are nights when he wakes up and has trouble going back to sleep. To get him back to sleep, we have to put him in the car and drive around town until he falls asleep, then we put him back in bed. We have gone out 3 times in the same night.

Whenever Biel has seizures, he has done so in his sleep. Following the same pattern, he remains with his eyes open, with a lost look and respiratory difficulty. Currently he is still doing this sometimes. For this reason, he sleeps with us so we can control him at night.

Currently, we are also participating in adapted children’s races that are carried out periodically. They are non-competitive races in which children with functional diversities participate. These races are promoted by some families and public entities, simply because a child with a disability has the opportunity to participate like any other in a non-competitive race. They also serve to give visibility to the capacities of these children and at the same time minority and non-minority diseases. It is very exciting to see them reach the finish line!