Mike and Kass Mayr pose with their 18-month-old daughter Blakelee and their other three children. Blakelee was born with Cornelia de Lange Syndrome, a rare genetic disorder that affects one in 10,000 to 50,000 children. – Stephen Dafoe Photo
by Stephen Dafoe
Morinville – In her mother’s arms, her parents and siblings gathered around her on the living room sofa for a family photo, 18-month old Blakelee Mayr looks like any other child at first glance. But she is not. Blakelee was born with Cornelia de Lange Syndrome (CdLS), a genetic disorder that affects one in 10,000 to 50,000 newborns, depending on the information source, and causes “a range of physical, cognitive and medical challenges” according to CdLS World, the International Federation of CdLS Support Organizations.
Each year approximately 18 children are born in Canada with Cornelia de Lange, a syndrome that is seldom detected in utero and not always detected at birth.
Typically CdLS causes hirsuitism (excessive hair) and well as unique facial features, including long eyelashes and eyebrows that are thin and meet in the middle. Additionally, children with CdLs often have short upturned noses and thin downturned lips. It is marked by low birth weight, delayed growth and small stature. Other common medical issues include heart defects, vision and hearing problems, limb deficiencies, including missing fingers, forearms and arms, and gastro-esophageal reflux disease (GERD), the latter a condition present in Blakelee.
“Not all kids that are born with the syndrome have all of the characteristics; some are mild characteristics,” explained mother Kass Mayr. “Blakelee has the classic Cornelia de Lange where she has all of the characteristics: the long, thick hair at birth, the eyebrow that connects in the middle, and the downturned lip and upturned nose. She’s got feeding issues and is fed through a G[astro-intestinal feeding] tube. She’ll probably have that for her whole life. When she was eight weeks old they went in and gave her the G tube and tied off her stomach because she has really bad gastro reflex.” Blakelee’s GERD is not uncommon and is present in some 85 per cent of Cornelia de Lange Syndrome children making eating incredibly painful.
Though Cornelia de Lange Syndrome is extremely rare, the Mayrs had two children born with the syndrome. A twin sister, born with a diaphragmatic hernia, a rare form of hernia present once in 2,000 to 5,000 births, died at five days. “Her lower abdominal cavity came up into her chest,” mother Kass said. “That actually didn’t happen until she was born. When they take their first breath, that’s when everything comes into their upper cavity. She was on life support for five days. They were fraternal twins, but both born with the same syndrome. That usually only happens with identical twins.”
For Blakelee’s parents, Mike and Kass Mayr, CdLS has caused an 18-month search for understanding into how best to help their daughter, a child who weighs 13-and-a-half pounds at 18-months, a pound-and-a-half lighter than her six-month-old brother. At birth and beyond, Blakelee continues to have smaller than normal hands and feet, the latter a situation that causes balance difficulties for Cornelia de Lange Syndrome children. “She may not walk until she’s four or five,” Mayr said, adding her daughter has low muscle tone which makes it difficult to support her head. “She has a physiotherapist. She has an occupational therapist. She has a feeding therapist. They’re not able to help us because they’re comparing her to kids they have had in the past. Her anatomy is so unique. There is not enough knowledge of their anatomy. It’s so different when they compare it [CdLS] with other kids.”
Special CdLS Conference
The family has the opportunity for the deeper understanding they are seeking this summer. The family of six plans to travel to Costa Mesa, California where the CdLS Foundation will host a biannual conference offering families like the Mayrs an opportunity to speak one-on-one with doctors who specialize in CdLS, healthcare professionals who can craft a plan of care to bring back to Blakelee’s doctors and therapists at home.
“They’re able to put on this huge conference where doctors from all over the place, the ones that specialize [in CdLS],” Mayr said. “We’re allowed to pick three doctors and with those three doctors Blakelee will get one-one-one [consultation]. We’ll be able to put together a special care package for her for us to bring back to the physiotherapist, the feeding specialist and her main doctor.” Blakely will also receive some specialized testing while at the California conference, and parents Kass and Mike will have the opportunity to attend a number of specialized seminars that relate to what they and their daughter are currently experiencing.
Though the family has had some refuge of assistance through the online CdLS Discussion Board, an online community of parents, they are looking forward to the opportunity to get answers and direction directly from professionals who have made the study of CdLS their life’s work.
“It’s important that we get the information from these doctors so that we can come back and advocate,” Mayr said. “That’s the main thing, to advocate, and knowing what to say to these specialists when they are trying to push things.”
Financial assistance needed
The conference takes place June 26 to 29 and will cost the family approximately $5,000, including travel and accommodations, which is a struggle for a family of six with one income. But they are determined to make it to California this summer and have raised more than $2,000 towards the funds needed, donations made by family and friends and through a Go Fund Me online donation account. While the parents welcome donations through the GO Fund Me Account, they caution that the website takes 7.9 per cent of the donation between GoFundMe and processing fees.