Thursday, April 4, 2013

Misdiagnosed and starting over

As almost everyone who knows me knows I had an appointment at Boston Children's Hospital with my 9 1/2 year old daughter Tayler. I thought we might finally get some answers that were much needed about her neurofibromatosis type 2, which she had been diagnosed with at 6 months old. Instead what we were told knocked me off my feet, my daughter had been misdiagnosed that whole time and none of the other doctors we had been too had ever said anything or tried to do anything for her.

We waited an hour to see Dr. Ullrich after driving 7 hours at what was going to be my best effort to have someone listen to me and help my daughter. I had all her records with me and was determined that I was not leaving without the satisfaction of having her helped.

Dr. Ullrich came out and took us into a room, my mom and step dad had drove us there so my mom accompanied us into the room. It's better to have a second set of ears at these appointments. Five minutes into the exam with Tayler she starts pointing out neurofibromas on different parts of her body and says she has neurofibromatosis type 1 (NF1). This sent me reeling, what do I do now, where do we go from here, can you please help us, all of this and more kept coming out of my mouth. I was instantly terrified, I had read the past MRI reports and knew there was something wrong but I didn't think it was a misdiagnosis.

After my initial shock Dr. Ullrich went through everything with me, she showed me the MRI images and explained that the increased FLAIR was actually NF spots on her brain. She looked at her school reports and decided that we were starting over from scratch. I am nowgetting more help and answers than I could ever have dreamed of. Our new plan consists of waiting on referrals for OT, PT, speech, ophthalmology, neuropsychiatrist, neuropsychologist, school testing and the results to tell us how old her bones are.

I am eternally greatful to Dr. Ullrich and Boston Children's Hospital. I know my daughter is finally going to get the help she needs, the answers I deserve and I couldn't be happier with their service.

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