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Learning to Live with Cri du Chat Syndrome

Paul Bakken's 10-year-old daughter was diagnosed at birth with Cri du Chat Syndrome, a rare genetic condition.

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A high-pitched, mewling cry, like the sound a kitten would make.

Paul Bakken remembers every detail of the noise—it was the first sound his 10-year-old daughter Amanda made when she was born in 2001. He also remembers the furrowed brow and worried look of the doctor who overheard Amanda's cry.

Days later, doctors diagnosed Amanda with Cri du Chat Syndrome—a rare genetic condition named for the noise newborns with the condition make. 'Cri du Chat' is French for 'cry of the cat.' The disability is also known as 5p- (Five P Minus) Syndrome.

One in 50,000 babies is born with the syndrome, according to the 5p- Society of North America. The condition occurs when a child is born with a partial or completely missing of the fifth chromosome. People born with Cri Du Chat can suffer from cognitive disabilities, slow growth, slow or incomplete motor skills, and some physical defects, according to the U.S. National Library of Medicine.

A Troubling Prognosis

Shortly after Amanda was born, a geneticist told Paul and his wife, Alison, that Amanda would never talk or walk and should be institutionalized, Paul said. As the doctor laid out Amanda's prognosis, Paul, holding his newborn daughter, felt her grip his finger.

"It was like [Amanda] was saying, 'Don't listen to her, she doesn't know what she's talking about," Paul said.

The Bakkens took Amanda's advice.

After the first prognosis, they spoke with another geneticist at the University of Minnesota, who told them that Amanda's condition was severe, but not hopeless.

To accommodate the needs of their firstborn, the Bakkens made some immediate adjustments to their lives. Paul, who currently serves on the Eagan City Council, left his job as a rising small business attorney to care for Amanda on a full-time basis.

Early on, Amanda needed near-constant care, and was hooked up to a pulse oximeter. Over the years, she has experienced difficulty with her vision and perception, communication and growth, the Bakkens said. The Bakkens enrolled her in therapy and began attending national 5p- Society conferences, where they found much-needed support and answers. Eventually, Paul became a 5p- Society boardmember.

At 10 years old, Amanda has the cognitive ability of a two-year-old, Paul said. She communicates with her parents using a simplified form of sign language, or makes use of a special audio/visual display that allows her to communicate. She currently attends Special Education programs at in Eagan.

There, she spends part of her school day learning with nearly one dozen other disabled students, and part of her morning attending music classes and other sessions with mainstream students.

While she faces many challenges children without disabilities will never experience, her life is a far cry from the predictions made by the Bakkens' first geneticist.

"I can remember looking at her and thinking, 'How can the outlook be so bleak for this beautiful little kid and why would anybody just give up on her?'” Paul said. "Getting news like that is devastating for anybody. It just made us more determined to see what could be done."

What the Future May Bring

Paul and Alison know their daughter will need care and supervision throughout her life. Early on, the pair jettisoned many of the normal expectations and aspirations parents have for their children. Now, they handle the challenges as they come and are making plans for Amanda's care as she enters adulthood.

The Bakkens are also raising two younger, healthy children.

"It’s different than hoping your kid grows up to be a doctor," Alison said. We simply wish that she has a happy life, but the definition of that has changed for us dramatically. As long as she is healthy and she is laughing and is with people that care about her and love her, that for her is a happy life."

Last week marked the first annual International Cri du Chat Awareness Week. For more information, visit the 5p- Society's website by clicking here.

 

Anna Schier May 21, 2012 at 07:55 PM
What a remarkable and inspiring story! Can any other parents with children who have unusual medical situations give their advice for how best to create a supportive environment for their child and for the entire family?
Kate Jensen May 22, 2012 at 05:06 PM
We just make sure to include our daughter (also with 5P-) in all our activities as much as possible. She simply loves just being a part of our family. It is also important to connect with other families on a similar journey, and to take care of oneself as a caregiver by scheduling regular periods of respite. This is re-energizing for parents as well as siblings.
Anna Schier May 22, 2012 at 09:05 PM
Thanks for sharing your insight and advice, Kate!
pam ritter January 10, 2013 at 03:14 AM
We also have a daughter with CriDuChat. Jessica is now 26 yrs of age. She was our first child as well. I can remember hearing her cry in the delivery room. My husband and I joked that we would have to call her kitty instead of jessie. We never dreamed there was a problem. We heard the name of her condition from a specialist. We were initially told she had a murmur. We learned the true extent of her condition by reading about it in the hospital library. At first we were devestated. But it hasnt been the tradgey we thought. Yes she has problems but she is such a joy to be around. She loves water. Doesnt matter where, sink, bath tub, lake or pool. It is her favorite thing. She smiles and laughs all the time. She has been a blessing to our family and we are happy God gave her to us. Hope your journey with your precious daughter is as wonderful as ours has been.

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