Kai Gervais' SPPRS Foundation

Kai Gervais is only 16 months old and struggling with a rare genetic disorder called Spastic Paraplegia and Psychomotor Retardation with or without Seizures (SPPRS).

His is the only case in North America.

There are only 15 documented cases worldwide.

He is the youngest person to be diagnosed with SPPRS.

Kai’s parents, Shannon and Mathieu first brought Kai to the Children’s Hospital of Eastern Ontario’s emergency room because he was in respiratory distress and foaming at the mouth. It was the scariest moment of their lives. Once he was in a room, doctors started asking if there were any other concerns other than his respiratory virus. Shannon told the staff that Kai had gained a lot of weight very quickly and was weighing in at 18lbs, wearing a size 4 diaper and had an extremely large abdomen. She was also positive he had a torticollis and brought up the fact that he had little to no head control and seemed very tired and weak. They have another son and had a feeling that something just seemed off with Kai.

He was diagnosed with hypotonia, what they often refer as "floppy baby syndrome". It's described as having low muscle tone. He also had a torticollis, and overgrowth syndrome. They asked if the genetics team and neurology could get involved as they feared it went beyond being hypotonic.

After numerous tests, MRI, blood work, the whole genetics workup, consult after consult, all while fighting through his RSV bronchiolitis, on an oxygen mask, they were sent home with no answers. This was November 2021. Kai was then referred to a pediatrician, physiotherapist, osteopath and neurologist. The family spent the following months with no answers, not knowing what was to come, all while trying to give Kai and his older brother the best life and the most normal life possible.

On April 20th 2022, the Gervais family received Kai’s diagnosis during a Zoom call with the genetics team.

His condition being so rare, having no cases in North America and no patients this young, the family still has so many unanswered questions. So far, all they know is that this condition isn't life threatening, it's life altering. Medical professionals do not know if he will ever walk or talk.

Kai is now 30lbs, hypotonic, therefore he cannot hold himself up. He has started sitting unsupported but is not very stable. He rolls and slightly lifts his head up, he's very motivated and very strong. He's been reaching and pulling for a few months now, but is still considered completely dependent. Kai is still followed by a pediatrician, physiotherapist, osteopath and neurologist, but now also has an occupational therapist, a speech pathologist, a developmental pediatrician, an ophthalmologist and will require surgical intervention from the ENT and urology teams. He was classed as having a global developmental delay, and is considered at the 7-8 month stages, while being 16 months in December 2022. Additionally, Kai suffers from three kinds of seizures and needs to be medicated. Having to monitor his behavior and watch out for side effects is also very scary.

Once finding out that Kai had special needs, Shannon extended her maternity leave and the family of four has been living off of one salary since August 2022. They are now parents to a child with exceptional needs and I’m asking for exceptional help to get them through this and help Kai thrive. We don’t know what the future holds for Kai, but we do know that he will need all the help he can get. The funds collected will be used for:

Kai is a fighter and has made this family beyond grateful. He has progressed immensely in the last months and continues to shine and touch everyone’s hearts. Anyone who’s come in contact with Kai will say that he's the sweetest and most lovable baby boy.

All your help would provide so much for Kai's future and this family's needs. They want to give Kai the best life, let him thrive and bring him to his full potential! All any parent wants is to offer everything they possibly can for their children's health and safety. Let’s all help to make sure this family can do that!

More about Kai’s condition as described on neurology.org

Spastic paraplegia and psychomotor retardation with or without seizures (SPPRS) is a complex neurodevelopmental disorder with an autosomal recessive inheritance. SPPRS typically shows an infantile onset, starting with hypotonia either at birth or by age 3–4 months, followed by severely impaired global development and delayed early motor milestones.1 All patients with SPPRS develop slowly progressive bilateral lower limb spasticity, leaving them wheelchair bound and bed bound by their 20s. In some cases, patients may never walk. Most patients develop seizures in childhood and have a speech delay. Other variable features include ocular abnormalities, sensorineural hearing loss, skeletal abnormalities, obesity, and double incontinence. Some male patients have hypoplastic genitalia. Brain imaging may show generalized cerebral atrophy, ventricular dilatation, hypoplasia of the corpus callosum, and decreased white matter.