Elora family learns importance of Rare Diseases Month after daughter diagnosed with CASK

ELORA – The bedlam in the Kalinowski family is real and it’s typical of a family with two young daughters.

Charlotte, 4, insisted she wanted to take notes like a reporter and sent her father off to find a notebook.

Twenty-month-old Lily was intent on grabbing the reporter’s pen and had a surprisingly strong grip for one so young.

Parents Amy Clifford and Paul Kalinowski were gracious and good-humoured and apologized for the hijinks of their daughters. But under their calm and composed exterior, they were full of grief, confusion, fear and apprehension for what lies ahead for their family.

On Dec. 10, they learned the name for the condition that had them taking Lily to doctors and specialists for tests and assessments ever since she was two months old. Lily was not meeting all her developmental milestones, raising red flags for her parents. And as time went on, those deficiencies became more profound.

“I call it D-Day,” said Amy. “Diagnosis day, it’s a day that will be imprinted in our minds forever.”

As it turns out, Lily has an ultra-rare genetic disease known as CASK that causes developmental delay and intellectual disability.

It’s a spectrum-type disease so it displays differently for each person who has it. And it’s so rare there are only 500 known cases globally. Lily is one of just five cases in Canada.

“One in 17 million will get it, which is a crazy statistic,” Amy said.

According to rarechromo.org, CASK-related disorders are caused by specific changes in a gene called CASK while a child is developing in utero. Deletions or duplications within the gene, located on the short ‘p’ arm of the X chromosome, disrupt its function.

CASK is an abbreviation of the gene’s full name: calcium/calmodulin-dependent serine protein kinase.

While it displays differently for each person, it can cause a host of symptoms:

• absent or severely impaired speech in most girls and difficulties using alternative means of communication;
• about 25% of girls will learn to walk unassisted, but the majority will require mobility equipment;
• seizures: about 40% of girls have seizures before the age of 10 that can be hard to control (intractable);
• weak muscle tone (hypotonia);
• tight muscle tone in legs and/or arms (hypertonia/spasticity);
• difficulties sitting independently;
• movement disorders e.g. dystonia (unintended muscle contractions);
• eye and/or sight anomalies;
• sensorineural hearing loss;
• sleep disturbances;
• hand stereotypes (and self-biting); and
• short stature.

Because boys only have one X chromosome, they don’t usually survive beyond a few months. And because it’s so rare, it is also not studied by researchers and so treatments and cures are not known.

But the Kalinowski family is intent on doing what they can for Lily and are taking her for intensive therapies in Burlington, where she has four-hour sessions daily for four to six weeks, a two to four-week break, and then the cycle begins again.

Through play and specialized exercises, she works her muscles in hopes she will walk and become strong. She wears a hearing aid and has speech and language therapy in her sessions too.

Special boots will offer ankle support and hopefully help her walk more normally rather than on tip toes.

“It’s the only thing that will move the needle,” Paul said of the physical therapies. 

Genetic therapy might be possible but that would require medical intervention to fix the gene. And because it’s so rare, researchers just don’t know enough to take that step.

“Whenever we see the scary symptoms listed online, we can see that Lily is doing really well, comparatively,” Paul continued. “But ask us the prognosis, we just don’t know. All we can do is give her therapies and treatments. Day to day she’s happy.”

“She’s very curious,” Amy added. “A ray of sunshine with infectious energy. She loves music, she loves to dance, she loves water play, she loves food. And she loves her big sister.”

While they found the answer, they felt lost when they received the diagnosis.

“We went through all the stages of grief,” Paul said. “But a couple of things really helped – our village of friends and family and the other families who are dealing with CASK.”

They sang the praises of Elora and Fergus and the people who have left casseroles on their doorstep and who lend an ear when the stress is just too much to deal with alone.

They also learned there is a community – albeit a virtual community – whose members are going through similar circumstances and have some great advice to offer.

“The CASK families are supportive and very helpful,” Amy said. “It’s an incredible group of families doing it together across the globe. Thank goodness for technology.”

February is Rare Diseases Month and Feb. 28 is Rare Diseases Day.

Although there are no events happening locally, the Kalinowskis hope to draw awareness to the day and the supports that are available for families in the same boat.

“As you go through it, you can feel very alone,” Amy said. “But you have a village, and they can really help you see the path in front of you.

“I don’t love sharing different parts of this story, but people do share, and it’s been so helpful. It highlights to me that we should be sharing and give back some of the help that was provided to us.”

Ever since diagnosis day, they have given themselves the grace to deal with the new information and their new reality in whatever way is necessary.

Rare Disease Day is one milestone date they set for themselves to do that. They intend to start fundraising. Lily’s therapies are expensive, and she’ll outgrow orthotics, boots and hearing aids quickly.

They also want to hold awareness day events as a way to pay it forward and help support families dealing with ultra-rare diseases.

So expect to hear more about events in the spring. In the meantime they have started an Instagram account @helplilybloom where they’ll be posting updates on Lily’s progress and their fundraisers.