Wednesday, August 18, 2010

Finding Out

After a great deal of waiting we finally made an appointment with Dr. Bonnemann at the neurogenetics clinic at CHOP. He is highly esteemed in his field and people come from around the world to meet with him. We spent hours meeting with genetic counselors, therapists (OT, PT, Speech), nurse practitioners, students, and on and on (quite the dog and pony show). After a few hours we finally met the esteemed doctor we had heard so much about. He had a very thick accent making it a little hard to understand hi but was a cordial man. He talked more to his students and fellow doctors than he did to me for the first 45 minutes. I was just nervous. Would this man have answers or would it be more of the same?

After he looked over every inch of Abby's body noticing every weird thing that I had ever noticed but had one doctor or another brush off as nothing. Everything from her crooked little toes to her odd shaped sternum... he noted everything. He informed me that he had some ideas about what was going on. He wanted a thorough genetic panel, blood work and to run a 3 Tesla MRI (higher powered) to get a really good look at her brain. I hated the idea of another sedation (at this point she had had a CT scan, a 1.5 Tesla MRI and double eye muscle surgery) but I wanted answers BADLY.

We had the MRI done quickly after the appointment and she did fine. Within a week I was on the phone with Dr. B. I sat down with my pen and paper and started writing. He confirmed the issues that the previous CT and MRI had found. But he found something much more substantial than expected. He explained that she had a very, very rare brain formation known as rhombencephalosynapsis. He had to tell it to me several times and eventually spell it. He explained that because of it's extreme rarity formulating a prognosis would be difficult. He promised to send me some literature so I could read about the diagnosis.

As we did research and read what Dr. B sent we started to digest it all. We had some idea of a why. I honestly thought we would never have a why. We could start to get a glimpse into her future by making contacts with people who have RS. It gave us hope. It gave us a sense of direction. While life is never going to be easy for Abby it is not going to keep her down. We would not let it.


  1. Hi, I'm so glad I found your site. Our son Anton, soon 3 years old, got his diagnos in April. We were told during the pregnancy and after that he had Hydrocephalus. Our neurosurgeon reviewed Anton’s medical record with his colleagues and then they came up with Rhombencephalosynapsis.

    We haven't had the time to find out more about this yet because Anton got a baby sister almost at the same time. We live in Sweden and it's hard to get information about this in swedish.

    I'll be reading everything here with great interest.

    Kind regards Jonna Rådegård

  2. Dear Jonna - I am so glad to hear from you. It is very nice to have parents with children who have RS to bounce ideas off of. I have received more information from fellow RS parents than I have from our team of doctors. :D If you ever have anything you want to ask I am always happy to share our experiences.