A Canavan Disease Warrior

Tobin was born on an early September morning and she came into the world bright eyed and healthy! I joked that we got a unicorn baby because she never cried until that all changed at 1 month old. Tobin cried nonstop for hours and stopped sleeping. Me being a first time mom I had a deep gut feeling that sometime wasn’t right but then again I had no idea what I was doing. I had taken her to her pediatrician and she was diagnosed with acid reflux. I hoped and prayed the medication would help but it didn’t. A couple weeks later Tobin’s eyes started to shake back and forth. I once again panicked and had her back at her pediatrician. Her pediatrician assured me that it was just her nervous system developing and it will go away soon. I still couldn’t shake the gut feeling that something was terribly wrong and no one was listening. Her eye shaking continued to get worse and her pediatrician sent a referral to ophthalmology. A week later we had the appointment. The ophthalmologist didn’t say much as she was examining Tobin but I knew it wasn’t good when a second doctor came to examine her. We were told she was blind but her eyes are healthy and they referred us to the University of Iowa Children’s Hospital. A week before Christmas 2017 Tobin was admitted to the hospital where they ran a ton of tests. I remember they were more concerned about getting a urinalysis sent to Mayo but of course didn’t tell us why. Two weeks later the results were in and we met with neurology. I should have known it wasn’t going to be good when they came in with a box of tissues.

Tobin was diagnosed with Canavan disease at 3 months old. I swear when we got her diagnosed the doctors were speaking a different language because there was no way they were talking about my baby who looked completely healthy.

Canavan disease is a progressive, fatal neurological disorder that begins in infancy. It is caused by an inherited genetic abnormality with the lack of an essential enzyme causing deterioration of the white and gray matter of the brain. Canavan disease is classified as an ultra rare disease meaning fewer than 20 children are diagnosed in a population of 1 million.

Children with Canavan disease experience:

* Brain and muscle atrophy
* Issues swallowing
* Blindness
* Spasticity
* Seizures
* Early death

What sticks with me most was hearing she will be lucky to see her 5th birthday. Tobin will be 5 on September 27th. Although Tobin is almost 5 she is developmentally 4-5 months old. She is unable to hold her head up, sit on her own, use words for communication and she is fed via a feeding tube. There are many challenges that we face daily but Tobin is 100% aware of her surroundings and so incredibly smart. Tobin has a full blown personality and the definition of a sour patch kid! I’m so thankful that Tobin is thriving at 5 years old but this disease is unpredictable and so unfair. I cherish every single day that we have her because tomorrow is never promised!

We hope that next year Tobin will be selected for ground breaking gene therapy. With this gene therapy we hope to add the missing gene and stop the progression of the disease. If we can do that we can heal Tobin’s brain and she can be saved from this horrible disease!

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