Last fall we were the featured family on Pascale’s blog, Lessons from my Daughter. Pascale blogs about her daughter, Emily, who also has Cri du chat syndrome. What better time to re-post this interview than during Cri du chat awareness week. Enjoy!
Cri du chat syndrome Awareness Week is May 1-7, 2016
Hello Kathy, let’s start with you telling me about your family.
My husband and I were married almost eight years ago and have two boys. Mac is our five-year-old and Nathan is our two-year-old, who has Cri du chat syndrome. Nathan is our surprise baby. We were planning to adopt because my pregnancy with Mac was incredibly difficult. So Nathan surprised us in more ways than one!
We live in Texas and love being together outside — biking, hiking, swimming, trying new restaurants and doing various activities around town. Our faith is important to us and has been helpful to us as we’ve walked this road of having a special needs child.
Tell me about your loved one with cri du chat syndrome.
Nathan was diagnosed at two weeks old. My husband, who is a physician assistant knew right away something was wrong. He kept asking me if his cry sounded like a cat and I responded with “I don’t know, honey I’ve never owned a cat before!” When we got the official diagnosis the geneticist’s first words were, “Congratulations dad, your diagnosis was correct.” It hardly felt like congratulations, especially since she went on to say that I would need a home health nurse in order to take a shower, curl my hair, or do my nails. I’m not sure why she felt compelled to say those things since I rarely do the later two anyway. Her presentation of the diagnosis was very difficult for me to process.
Nathan is an incredibly sweet baby. He’s resilient in the face of many medical complications. He’s an observer, yet he’s already communicating in his own little ways. He’s very patient, but also incredibly motivated by the things he wants such as crinkly toys to chew on and being held and cuddled. He has great eye contact even from when he was an infant.
Tell me about doctor appointment, therapies or school.
We feel so blessed by some amazing doctors and therapists. Nathan sees a lot of doctors: Neurology, Ophthalmology, ENT, Pulmonology, GI, Cardiology, Neurosurgery, Ortho, Urology, and Nephrology. It seems there aren’t many specialists he doesn’t see. We also added a doctor of Physical and Rehabilitative Medicine to the list last year who has been very helpful in creative problem solving and giving guidance with our therapy regime.
As his mom and main caregiver I am constantly trying to provide Nathan the right mix of therapy. What types (OT, PT, ST, music, aqua, etc.)? How frequent? At home? In a clinic setting? I am learning that this is an ever-evolving process based on what Nathan can handle physically, what I can manage within the schedule of our entire family, along with the skills and personality of each therapist. Just when I think I have it all figured out I discover that something needs to be added, taken away, or changed.
Nathan’s biggest ongoing medical issue is gastrointestinal and urological complications. He’s chronically constipated and has been diagnosed with neurogenic bladder. At ten months he had surgery for a tethered spinal cord in the hopes that it work help his bladder/bowel function. We are still in “keep an eye on it” mode as he has high grade kidney reflux that has yet to resolve. His right kidney isn’t doing virtually any work and is prone to infections. We are still trying to learn more about what’s going on inside his little kidneys. The other big mystery is his heart. He has an enlarged aorta that is growing, making him at risk for an aortic dissection. Seems like we are constantly learning new things about his compromised body.
Tell me a success story.
Since birth Nathan has not been able to eat by mouth. When he was in the NICU I was frustrated that the professionals wouldn’t let me try and feed him. He had a G-tube placed at five weeks old. Now I am grateful for their early advice because he is starting to do some tastes of food and has no oral aversions. He is doing vital stim therapy, which I believe has been very helpful to his progress. We have to drive a long way, twice a week for the therapy but I think it is paying off. He is also crawling, pulling to stand, saying “ba, ba, ba,” and never fails to giggle at his big brother.
The even bigger success story to me is not what Nathan is doing, but how my heart is changing and falling more in love with him. I struggled to bond with him during the first year. I was overcome by the burden of his diagnosis and unable to see the blessing of his person that is buried in this syndrome. One of our favorite NICU doctors said, “Go ahead and learn everything you can about Cri du chat syndrome. Then, throw it out the window and be a student of Nathan.” I am slowly letting go of my expectations for him based on his diagnosis and accepting who he is and who he is becoming. Two books were particularly helpful to me in that process were The Power of the Powerless by Christopher DeVinck and Disability and the Sovereign Goodness of God (free download) by John Piper.
What else would you like the world to know?
We are different because of Nathan, but we are also the same. We still enjoy doing the same things, being with the same friends, the same things make us laugh. Our dreams have changed however, but in many ways for the better. Nathan has inspired us and enriched our lives by showing us what is truly important. That is, he is teaching us that acceptance and love go far beyond your abilities.
Thank you Kathy! You have a beautiful families, both of your boys look adorable and Nathan sounds like a fighter! I really hope to meet you and your family one day!
It was fun to write this interview. I was able to see for myself a high level summary of our experience with Cri du chat syndrome. I don’t often take the time to look at it from a big picture. We are caught up in the gritty details of it all.
Cri du chat has affected our family in many ways. Surprisingly, it’s not all bad. It’s helpful to look back on diagnosis day, to account for all the therapy work we do, and look toward what’s ahead for Nathan and our family.
I’ve also enjoyed reading Pascale’s interviews about other families. I sincerely hope that others will find something helpful and hopeful that they can relate to in ours as well.
This post may contain affiliate links.
My book, Beauty in Broken Dreams: A Hopeful Handbook for the Early Years as a Special Needs Parent, is now available on Amazon!
Also be sure to check out my list of Favorite Books on Disability!