Child Spotlight: Huntley

 

1. Please introduce your child and list the name of their diagnosis

Huntley was born in Edmonton, Alberta on August 12th, 2016.  He is a little brother to Kherington.  He is our little superhero with beautiful blonde hair, blue eyes, infectious smile and giggle.  

In June of 2020 Huntley finally received a diagnosis of Smith Kingsmore Syndrome.  Only the 3rd child to be diagnosed in Canada at the time and the only one in the world with his known gene variant – 6016G>C, p.Val2006LEu.  At time of diagnosis there was just under 60 kids diagnosed with SKS.

2. Tell us how this diagnosis affects Huntley and your family’s day-to-day life.

In September, Huntley will be entering Kindergarten at Ecole Champs Vallée School in Beaumont.  He absolutely loves his peers and excels in that environment.  His most infectious smiles come during school drop off.  

Other challenges that have come with SKS have been:

  • Development delays
  • Macrocephaly
  • Megalencephaly
  • Hypotonia
  • Nocturnal Seizures
  • Scoliosis
  • Papilledema
  • Low oral tone
  • One kidney

I have to say that Huntley has come a long way over the last 5 years.  Huntley is non verbal, does not walk or self feed.  At birth, we had no idea what this journey would hold. It’s been a wild ride – but we have made it our own.  His strength is getting better by the day with intensive therapies.  Huntley does require our 110% attention all day every day.  It’s a lot!  My husband and I are thankful that we are self employed, but it has still come with so much sacrifice.  Whether we are running to appointments, therapies, school, feeding him, bathing him, soothing him – he relies on us for all his daily activities.  

3. What have you learned from your child and being his parent?

The biggest thing for me as a Mom is I’ve had to leave to just slow down. I am a go-go, always on the run type of person. I’m not a home body – but I try to force myself to stay home. He thrives with structure and when he has a set schedule.  He is smart. He knows when it’s school time, therapy time … not so much bed time 😂

4. If you could give any advice or guidance to a fellow mom receiving a new or similar diagnosis, what would it be?

Take it in strides.  Take time to process it.  Connecting with people in the SKS community has been life changing.  Find people that truly understand you from every ounce of heartache, struggle, fight, exhaustion and sleepless night.  Our kids story and journeys are ever changing. There are a load of highs once you truly decide to see them.  So much to be grateful for.  They might not be the highs you were hoping for when your child was born – but they are still freaking amazing!  Our kids are on different timelines but believe in your heart that they are right where they need to be.  Support them, encourage them and advocate for them …. Always!

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