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  • Care4ASH1L

Heroic Heitor - Brazil

Updated: Jul 7, 2021



That Heitor has seizures is not unknown. However, his seizures recently have taken a turn for the worse. Having suffered from absence seizures for 3 days continuously, from May 19 – 21, 2021, Heitor was taken into the Emergency Room. Throughout the night of May 21, 2021, he had seizure attacks. In the morning of May 22, 2021, Heitor had a seizure which affected his saturation levels and his oxygen levels in the blood rampantly reduced. This sadly triggered a cardiac arrest in him. Following which, Heitor was moved into the ICU with oxygen support and constant observation. Heitor is barely 5 years old and his body could not sustain so many traumas and he went into coma for 5 days. From May 23 – 28, 2021, Heitor remained in coma. On May 28, 2021, Heitor revived and woke up from coma but having sustained the comatose, he lost his ability to eat and walk. He required a wheelchair as he lost his agility and mobility. On June 3, 2021, Heitor was referred to a special home where he was given rigorous motor physiotherapy for 6 days. Heitor is improving slowly and regaining his gross motor skills.

With the help of rigorous physiotherapy, Heitor is regaining his mobility and gait, however, he still remains prone to severe seizures. Adequate research on ASH1L is necessary to help understand the molecular function of ASH1L in humans and to unravel its role in seizures. Heitor and many kids with ASH1L need this research.

This is the story of Heitor, our #ASH1LWarrior, as shared by his mother in Portuguese. The story has been translated into English with the help of Google Translate. All the videos and photographs have been posted after permission and consent from Hector’s mother.

Heitor was born in July 2016 in Brazil at 38 weeks. He was born via emergency c-section after an ultra-sonography examination reported that the fetus was not absorbing the nutrients for 3 consecutive days. His mother reported that she had a troubled pregnancy with him due to which she had to quit her job during her 5th month of pregnancy. Heitor’s mother had low placenta and when Hector was born the placenta stuck in the uterus. Consequently, Heitor’s mother required a surgery to remove the ovary and uterus which led to her being in the ICU and was in a state of coma. Heitor showed no complications at birth and was developing well until his first seizure. He crawled at 9 months, walked when he was 1 year old and babbled at 1 and a half years.

Heitor had his 1st seizure in September 2017 when he was 1 year and 3 months old. However, he was not prescribed any medications to help with seizures. Heitor struggled with several types of seizures without proper medical care and attention. His mother was ignorant of his medical emergency as his doctors did not express any concern. One day he fell, and his mother started to notice and realized that he was going out and his head seemed to be moving from his neck and he was going out for 5 seconds. This incident required him to be hospitalized because he hit his head with huge rock and in the hospital it was found that Heitor was having around 200 seizures. This incident happened in 2019 when he was 2 years old. Since then, Heitor has been suffering from different types of seizures : generalized, clonic tonic, focal crisis., absence crisis. His doctor diagnosed him with Dravet syndrome and was prescribed Diazepam to help with seizures. Heitor, so far, has been hospitalized at least 12 times due to seizure complications.

Heitor struggles with Speech and Language, both expressive as well as receptive. He often fails to comprehend and interpret the commands given. Heitor has a lot of problems with sleeping. He wouldn't sleep and stayed up all night until he started taking the 5mg nitrazepan medication. Heitor has behavioural issues and often has meltdowns. He would throw everything and exhibits injurious behaviours by hitting everyone. He also has self injurious behaviours and attacks himself by punching his head and bites himself. Heitor struggles with a lot of anxiety and gait. For unknown reasons, he loses balance and is prone to falling.

Despite all his challenges, Heitor’s mother expects him to lead a good quality of life with access to equal opportunities. She really hopes that doctors do research and find out more information about ASH1L so that they can find treatment solutions to help improve the lives of those children affected by ASH1L mutation. She hopes to be a part of FDA approved human clinical trials to see a better future for Heitor.


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