Following her Heart

With 50-50 odds that her child may also be diagnosed with Koolen-de Vries Syndrome, England’s Lisa Collins pursued her dream of being a mom.

written by Kate Bradley


The day test results confirmed that Sienna Collins had not inherited Koolen-de Vries Syndrome came as a relief and a shock to the young baby’s family. Sienna’s parents both desired to have a child, but with father Christian diagnosed with Asperger Syndrome and mother, Lisa, having Koolen-de Vries Syndrome, they knew the odds of having a special needs child were high. Yet, their plan to fulfill Lisa’s dream of being a mum was worth the worry.

Today, the baby lives full-time with her grandmother, Lisa’s mom Deborah Harvey, in Wellington, England. At the time of our interview, Sienna was 7-weeks-old and weighed a healthy 11 pounds.

Lisa, 29, stays two nights a week with her mother to be close to the baby. The family works together to ensure Sienna lacks for nothing, and has all the love they can provide.

“I’m a lot happier now that I’ve got a baby,” Lisa said during the Skype video visit. She smiled describing how she plays with Sienna. “I have my easy bits and fun time with her. I play with her on her play mats and I have to change her nappies. She started smiling as well, bless her.”

The smiles come easy now, but Deb said that the pregnancy was a cause for concern. Lisa spoke about not wanting her child to go through what she did in secondary school and college, with bullying being a factor.

Growing up, Lisa was undiagnosed but exhibited learning difficulties that made Deb aware she was not developing at the same rate as other children. At age 9, Lisa began gymnastics and stuck with lessons for several years. Lisa not only completed secondary school, but she also attended college courses, along with one that allowed her to participate in holidays, or overnight excursions.

“I stayed in a cabin for a week and started horse riding. I’ve been horse riding a few times in Wellington and really like it,” Lisa said. An activity center offered Lisa the chance to take courses in cooking and child care. “I do a lot of cooking at home. We do a cottage pie or a chicken dumplings. I make loads of cakes and I’m good at them.”

Over the years there was genetic testing for Lisa; however, it was not until 2010, when Lisa was 22 years old, that an official diagnosis for KdVS came from the genetic specialists.

Deb said it answered a lot of questions.

“When she was a baby, she didn’t feed well, was late sitting up and walking, and talking she did it back to front, if you like. She had lots of speech therapy. She had a hole in the heart,” Deb explains. “But, she was outgoing, happy and energetic. Full of beans! She didn’t start school straight away, but did attend mainstream school. Up until she was 20, I never thought she would leave home. One of the come-in caregivers suggested a house share with another girl with special needs. She did move out and that was the first stepping stone. Then she met Christian, her first proper boyfriend, and the marriage, that was great.”

One of Lisa’s friends from secondary school worked in a pub where Christian visited. He noticed her happy personality, he said. The couple now live together in a flat.

The newlyweds wanted to have a baby and sought genetic counseling. They were told it was a 50-50 toss of the coin as to whether the child would inherit the chromosome that had the gene deletion.

Christian said it was a concerning time. “I was concerned as any father going forward, but you have to take it as it comes,” he said. “There was a concern it would be born with Koolen-de Vries Syndrome. It was a huge relief [to find out the results]. It was a weight off the shoulders. We would have been so happy to have her whether or not. We would love her.”

Admittedly, Deb cautioned the couple against having children. Her life had revolved around caring for Lisa, and she knew the amount of support needed to not only care for Lisa and Christian, but to also take care of a baby. Lisa was adamant, and they went forward with the pregnancy.

“I was pleased for Lisa because she was so excited,” Deb said. “But I was apprehensive for the 9 months, wondering if the baby would have epilepsy or a hole in the heart. I did have a lot of concerns.” A plan formed for Christian to be the main caregiver for the baby, but never leaving Lisa completely alone with the child. Deb would provide support, especially in the first weeks. During the pregnancy, doctors monitored Lisa’s heart to ensure she was healthy. However, there was no fetal testing done prenatally to determine how the baby was developing.

“We were shocked but happy to receive the letter,” said Lisa. The family was not notified during their stay in the hospital that the baby was being tested for KdVS at that time. Instead, they knew the doctors were observing how Sienna fed and developed over a few days. Deb theorizes that they took blood during that time.

The happy, healthy baby now demands much of their time. The plan originally formed did not come to fruition, and Deb has full guardianship of Sienna, meaning the child will live with her until she is 18 years old. Lisa and Christian have input in the baby’s life, with Lisa spending time with her daily.

The trio, along with Lisa’s two sisters, form a support system Deb said is vital to any person having a small child.

“Parents have so much love for their own children,” Deb said. “I won’t say don’t do it, because it can be done if there is a support system to be there and everyone can work together as a family. Just because someone has special needs, they are as important as someone that hasn’t. They can achieve a lot.”

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