Chiari Malformation: Our Daughter's Journey
Our daughter, Louisa, is a vibrant college sophomore who is thriving in her studies and enjoys working as a lifeguard. It is a miracle we can say this, however, considering all she has been through and the years of uncertainty we have faced.
Louisa was diagnosed with Chiari Malformation when she was seven years old even though we suspected something was amiss from the time she was born when her oral-motor control issues were evident in her struggle to feed. Chiari Malformation (CM) is a condition in which brain tissue is pushed down into your spinal canal because the hole at the base of the skull, the foramen magnum, is abnormally small or misshapen, pressing on the brain and forcing it downward.
While yet to be properly diagnosed, Louisa struggled as a toddler to reach developmental milestones and even once achieved, had poor quality. She had poor balance, weak hands, weak core muscle strength, and an awkward gait. In addition to her occupational struggles, Louisa drooled excessively for many years, her language development was delayed, and she gagged easily. Routine physicals often brought the diagnosis of ear infections and at six years old, both of her ear drums burst. An ENT specialist diagnosed her with Eustachian tube dysfunction and knew it was due to her weak swallow. Oddly, though, she never felt the pain of the ear infections and we always had to tell Louisa when to wipe food and other debris from her face because she never seemed to feel it.
When it came time for school, Louisa tested into Special Education Preschool as well as physical, occupational and speech therapy. Frustratingly, her doctor did not agree with us that we still needed to find the underlying cause and not just treat the secondary symptoms of whatever was plaguing her.
Shortly after moving to Michigan and consulting a new set of physicians, a brain MRI was ordered to check for lesions consistent with Cerebral Palsy. The MRI was negative for lesions, but Chiari Malformation was secondarily noted in the radiology report and a subsequent MRI also showed Syringomyelia (SM). We finally had an answer. In our struggle to earn a proper diagnosis, Louisa had seen ENT’s, pediatric developmental specialists, geneticists, neurologists, neurosurgeons, allergists, cardiologists and gastroenterologists, along with PT/OT, swallow therapists and a neuro-psychologist who diagnosed her with Asperger’s Syndrome as pediatric CM patients are commonly on the Autism Spectrum.
Once diagnosed, we asked what her future held, but no one could tell us because she was one of the earliest pediatric Chiari patients. When a new symptom arose and we asked her pediatrician which specialist she should see, we were told, “You know more about Chiari than I do. Let me know what you decide and I’ll write the referral.” We appreciated the honesty, but we also felt like we were on our own.
Since being diagnosed with Chiari and SM, we found specialists in pediatric neurosurgery and Louisa has had two decompression surgeries within four years, the surgical protocol for treatment of CM. Her first surgeon skillfully performed the initial decompression and Dr. Holly Gilmer, chief of pediatric surgery at Royal Oak, performed the second successful decompression. Gratefully, Dr. Gilmer has guided Louisa’s overall care when we had nowhere else to turn and Louisa has been stable since.
To confirm Louisa was receiving the best care possible, we travelled out of state to the first multi-disciplinary Chiari Clinic in the nation. The neurosurgeons there were impressed with the surgical work done on Louisa by Dr. Gilmer and had no further recommendations to make. We did not need to return to the out of state clinic, but we knew that pediatric CM patients in Michigan could benefit from a similar clinic at home. Chiari knowledge and care has come quite a way in the past twelve years, but there’s still a long way to go. There’s no cure for Chiari, however, it can be successfully managed.
A multi-disciplinary Chiari Clinic, under the direction of Dr. Holly Gilmer, is being developed at Beaumont and will provide the most comprehensive care possible as well as share the story of Louisa, a CM patient who is healthy, majoring in Actuarial Sciences, and a living reminder that you should never give up hope.
--Heidi Young
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