Parenting and the intricacies in raising a child is one of the most gratifying but challenging experiences faced by a family. Unanimously, it is the most tranquil relationship and parents relentlessly endeavour hardships to give the best upbringing to their children. Parents endure multiplied hardships when they have a child with different needs. Parents leave no stone unturned to ensure that the child receives the best therapies to help their child overcome the challenges. This is a story of one such special child and his parents who are tirelessly fighting all the trials & tribulation and advocating for their son.
Asaf is a kind and affectionate 7 year old boy from Turkey. He hails from the Gaziantep province of Turkey. He was born via C-section in October 2014. Asaf’s mother had a regular and healthy pregnancy and Asaf looked very healthy at birth. His paediatrician did not indicate any health concerns. He was progressing and growing typically until he was 2.5 – 3 months old. And then he developed nystagmus-like shifts in his eyes. His parents consulted an eye doctor initially and the reports were normal. The eye doctor requested a revisit at 4 months of age. The eye check reports were normal again but the eye doctor suggested seeking an opinion from a paediatric neurologist.
During the appointment with the neurologist, Asaf had to undergo an EEG. Based on the reports from EEG coupled with the recordings of Asaf’s episodes, the neurologist confirmed that Asaf is suffering from seizures. Asaf was immediately put on medications to help with his seizures and situation was improving until he turned 9 months old. And since then, his seizures have became uncontrollable.
Initially, Asaf suffered from long-term seizures in the form of eye twitching 2-3 times each seizure exceeding half an hour until he was 1-2 years old. However, it got worse. He started to have seizures in the form of convulsions where his whole body would tremble. Right now, his seizures are like 30-second seizures by contracting one after the other. Asaf’s doctors have not been able to identify the type of seizures he has but currently, episodes occur in the form of successive seizures during sleep. At present, Asaf’s manifestations of seizures is distributed and varied. Sometimes it can be 5 to 10 consecutive nights in a week. Sometimes 2- 3 days pass with 1 seizure each in a row.
Apart from epilepsy, Asaf struggles with acute developmental delay caused by Cerebellum Enlargement Disorder. Around 3 years ago, when Asaf was 4 years old, the MRI identified issues with growth in the cerebellum. This debilitating condition mutilates Asaf’s ability to perform the simple motor skills tasks. Asaf struggles to sit straight independently and cannot walk. This condition only further worsens and deteriorates his abilities. It has also affected Asaf’s eye nerves causing vision impairments. As Asaf is getting older, the brain damage caused by the disorder is only further regressing his motor skills and vision.
Video 1 - Asaf doing physical therapy with his therapist
Video 2 - Asaf doing physical therapy with his therapist
Video 3 - Asaf doing physical therapy with his therapist
Owing to Asaf’s extent of severity of conditions, his doctor suggested to get a genetic testing which revealed ASH1L gene as a cause and pathogenic condition for his disorders. His parents are trying to understand if Asaf’s mutation has been inherited or if it was a de novo. They are diligently working with therapists to help Asaf overcome his struggles. They wish to see Asaf flourish and lead a good quality of life. The parents want to see great improvements in the field of research and expect researchers to find a cure. They want to see a cure for Asaf and several other children with ASH1L related disorders. They want a good life for Asaf which they hope the research can fulfill where Asaf can overcome his current challenges and be able to lead an independent life of dignity.