Child with Kleefstra Syndrome needs support

Times Contributor

 

Mothers and fathers lead a busy life and one filled with constant changes. Sometimes, they feel like they are running too fast, juggling too many balls, dealing with too many demands, getting no time for what they want or need in life. 

Think now what it would be to throw a chronic illness of a child into the mix. Not just one illness that you can identify, learn about, adapt to its effect on your life, but a constant changing morphology of body dysfunction.  Add extra doctors’ appointments, extra financial costs, more time spent at therapy sessions and struggles to help your child; not to excel or experience new things, but just attempt to do some of the ordinary things children do every day. Walk, eat, and go to school.

This is what the Leys family of  Carseland are going through. Their daughter Danielle is dealing with Kleefstra Syndrome. Danielle was born in 2003 and at the time she seemed normal, but at six months the family started to notice developmental delays and she couldn’t sit or crawl. They were referred to their pediatrician for testing.

“The initial genetic testing came back fine. They didn’t even say that she had Down Syndrome or anything and nothing about her facial features. There was testing for all the different kinds of syndromes. It was hard to get a diagnosis,” said her mother Jasmine Leys.

Things never changed, even at the age of two she was not walking.

“We always knew that she was behind and delayed and that was all that they could tell us at the time. Her muscle tone was hypotonia (floppy). Her core strength was weak and she just wasn’t able to do it. For years, we worked on being able to walk up and down the stairs and a lot of therapy really helped her. It just went on,” Leys said.

More testing, nothing was determined until she was four years old, when they got a phone call one day that let them know new technology might help with the diagnosis.

“All the kids are unique with all their chromosome arrangements. It was nice to know there was a name for what was going on, but there wasn’t much information they could give us at that time. That left us in the same boat, but at least we knew there was a reason for why these things were happening to her. I had to do a lot of research to work with the doctors,” said Ley.

Danielle started school and kept up through modified programs and special needs help. She also had to deal with pneumonia three times in one year. She developed drop seizures that medicine has not controlled. Now she has trouble swallowing and is moving toward a feeding tube. She also has some suspected bowel problems. She cannot communicate well, so it is difficult to know what Danielle feels or needs.

“That’s just thrown our world upside down. It all seems so crazy and up in the air. It just adds more and more on with what we are dealing with. Despite all that has happened, she is the happiest little girl with a beautiful smile. She deals with a lot, but she takes it all really well,” said Leys. 

The disease is unique and there aren’t many resources for families. Ley had to search the Internet for families experiencing the same thing. There are only about 120 cases worldwide. Although Carseland School attempts to meet the unique needs of Danielle and another special-needs student, there are not enough teachers or funds to provide adequate support for them. All the programs that would benefit her are in Strathmore. She also said there is a discrepancy in special needs funding. If Danielle were diagnosed with Autism, she would qualify for extra funding and services. Like the commercial where one child gets a toy and they take it away from the other child, it leaves the family feeling frustrated and angry.

Sometimes it is difficult for family and community members to know what they can do to help. Leys said she would like to see money raised and contributed to the school for better programming. She also is trying to save for travel to the U.S. or Europe and meet other Kleefstra Syndrome families and the geneticist who discovered the syndrome, Dr. Tjitske. She appreciates all the community support she has received, as it has been hard on her husband and Danielle’s older sister Kailey too. Sometimes it is difficult for families to accept a helping hand, but websites encourage friends to keep offering to help with ordinary daily tasks that let families get a breather and deal with important challenges.

“I want to raise awareness of  Kleefstra. A lot is going on with Danielle and people need to know about the syndrome,” said Leys.

The community can do that by enjoying a burger or baked goods at the Carseland Hall on May 4 at 6 p.m. There will be a presentation by the family and the funds raised will go to the family.