• Care4ASH1L

Kourageous Kautik - Canada

Updated: Mar 30




Birth:

Kautik was born in Mumbai, India via C-section as he was in a breech position since 28 weeks with an umbilical cord coiled around his neck. He was 2.97 kgs at birth and latched very well immediately after birth. He continued to latch well for the first 5 days but on day 6, he had severe blocked nose and he never latched again. Since birth, apart from colic issues, he always suffered from flu symptoms that required antibiotics and nebulizer for his nasal blockages. However, until the age of 6 months, he seemed to progress typically. He rolled for the first time when he was 25 days old and continued to succeed by the age of 3 months. At 4 months, he had severe cranial cap due to which he lost all his hair on his head. Kautik would sing to himself while going to bed and we found it amusing.

First Regression:

On March 30, 2014, Kautik was hospitalized for sudden onset of severe constipation where he was put on enema to resolve his hard stool. After returning home from the hospital, Kautik stopped crawling. I attributed this to his trauma at hospital but he never crawled again. Instead, he would lie on his back and reach for things by pushing his legs. At 8 months, his paediatrician diagnosed him with macrocephaly but it was ruled out as he was pointing, had good eye contact, was babbling and responded to his name. At age 1, Kautik was still not crawling or walking or talking. My concerns were dismissed as “He is a boy and some boys develop later in comparison with girls.” However, deep down my mother gut was telling me that he was not developing typically.

When he was 1 year and 2 months old, I saw a video of my friend’s son who was only a month older to Kautik where the kid was walking and running. Now I decided that I would not budge around doctors. So, the paediatrician ordered a D3 test which showed lethally low level of D3 (He was close to contracting crickets if this was ignored further). He was immediately put on D3 shots and rigorous Occupational Therapy. By 1 year and 5 months, which means in a span of 3 months, Kautik not only crawled but he also walked independently.

When Kautik was 10 months old, his constipation got so severe that he had lesions in his rectum which had to be treated by a surgeon. He didn’t require a surgery but he required anal insertion of medications which was extremely painful. Doctors prescribed him Milk of Magnesia to help soften his stools and he took this medicine until he turned 2.5 years old. He was also on enema regularly. However, after moving to Canada, this problem of constipation resolved by itself.

Second Regression:

Although Kautik was walking, I soon realized that his gait was not improving. However, my attention diverted because after contracting HFM disease, Kautik exhibited his second regression. He lost all his eye contact, stopped responding to his name, stopped babbling and started zoning out. We also moved to Canada soon after he turned 2. Kautik not only wobbled when walking but also couldn’t climb or jump. He is not as agile as the kids his age are and is also very stiff at his joints. He started flapping his hands and would spin objects and showed repetitive behaviours by rewinding the videos after every 5 seconds and open-shut the cabinet doors. Also, Kautik had late teeth eruption. At age 1, he only had 4 teeth of which 1 broke due to a bad fall and the rest of the teeth developed only after he turned 3.

Diagnosis of Autism:

By 3, Kautik was still non-verbal and a developmental paediatrician diagnosed him with severe autism in 20 seconds. Her explanation was that the fact he didn’t look at the toys in the room and preferred to play with the sink tap, makes him severely autistic. Her reasoning did not resonate well with me but matters got worse when she claimed that Kautik would remain a vegetable for the rest of his life. I reported the doctor as her narrative was unethical. As a mother, I was flabbergasted and distraught but I decided that I must seek help to help Kautik. We immediately started ABA and Speech Therapy. At age 3 years 4 months, Kautik made phonic sounds. When he was 4, he had a few words. Now, Kautik is 7 and speaks English and French. He is still not conversational and struggles with social interaction but he is slowly learning with cues.

ASH1L Diagnosis:

I believe every child with a diagnosis of autism and/or seizures must have access to genetic testing. My request to see a geneticist was ruled out but I would change my doctors until I found one who listened. She referred me to a paediatric neurologist who in turn referred me to a geneticist. This whole process of seeing a geneticist took me more than 2 years but I was persistent. The geneticist dismissed my theory that autism is genetic and epigenetic but I wouldn’t budge. He offered us to take the test privately in the United States as Canada Health wouldn’t agree. In November 2019, we got our ASH1L diagnosis and now we know why Kautik behaves the way he does.

Kautik’s Challenges:

Kautik’s gross and fine motor skills are still underdeveloped and not age appropriate but he tries really hard. He can ice skate and can now ride a bike with support wheels. His biggest challenge is stimming. Throughout the day, when he is awake, he stims continuously. This intervenes in his daily routine and also affects his ability to focus. Infact, his school teacher told me that she has never seen a kid stim so much in her lifetime. He has articulation issues and struggles to communicate in a social setting. He gets very anxious around his peers. He doesn’t understand hunger and has no sense of taste and smell. He cannot chew his food well. He has never been able to chew but with therapies, he can chew a little now. However, it is dangerous to leave him unobserved around food. He still eats mashed food which he swallows. This causes severe gagging and a danger of being choked. He would often vomit. Although after he turned 5, his episodes of vomiting has reduced significantly but he still eats mashed soft food. A small chunk in the bite and he will gag and struggle to breathe. So, it is very important for us to be vigilant while eating routine.

Kautik’s Strengths:

It takes a lot of heart to look beyond one’s diagnosis and inadequacies. Most people that we meet only see the superficial ASD diagnosis but seldom do people dig deeper to see his talent. Kautik has always been an amazing reader. At age 2, he would type to us when he was asked a question. At age 4, he started to read grade 9 science books. He can identify all the country flags and tell you their capitals. He loves to read about planets and dinosaurs. His favourite book is his Learn French book. He taught himself how to read and talk French. Despite his challenges, he tries to be as independent as possible and can brush his teeth, bathe himself and dress himself up. He loves dogs and talks to strangers with dogs. He loves his dog, Marley and wants 2 more dogs as pets. Kautik is good with literacy and enjoys Maths.

​Nevertheless, we love him and cherish every moment with him. His smile melts my heart and I know he loves us unconditionally!