The Journey Continues...

I met a new developmental pediatrician today at Sparks Clinic today.  Most children with disabilities like mine are followed by a developmental pediatrician.  These are specialized pediatricians that works with children that have a wide range of developmental issues such as Autism, Downs Syndrome, Rhett Syndrome, etc.  They also act as a hub for children like to me to link with other medical and diagnostic professionals.  My parents and I are very excited about this new doctor and this new chapter that she will hopefully lead us to.  See, I've been battling my seizures for so long that they became the focus of my treatment, but now I'm at a place where we can, again, explore new diagnostic options, new research, and newly discovered syndromes in an effort to discover what is causing my disability.  My seizures are still a big issue for me, but we've reached a point where the path of treatment has become less clear and we are playing a waiting game to see how my brain responds to the 3 surgeries I had in the past two years.  I will still be seeing Dr. Kim for my epilepsy treatment.  Dr. Khatri, the developmental pediatrician, is a young vibrant and invovled doctor that recognizes my issues as a challenge.  She also understands that my parents care a great deal for me and would like to know everything they can about my specialness.  She's in demand and wasn't accepting new patients until my Dad convinced to hear my story and meet me.  Now, she's on board.  I tend to have that effect on women...I'm pretty much irresistible!

After today's meeting, Dr. Khatri will get with a team of professionals and arrange a very comprehensive evaluation.  I will have lab work done that will assist some geneticist in looking for any newly identified gene markers that may shed light on my delay.  This is great because my last genetic evaluation was over 5 years ago and genetic research has been advancing every 2 years of faster.  Some of the test that were performed on me when I was 3 years old are now considered antiquated and no longer used.  I'll also meet with a new neurologist that specializes in metabolic disorders.  These disorders are wide ranging and their impact on the children, like me, is just as wide.  Some haven't even been discovered or named yet, but they still affect us.  Like genetics, this field is advancing just as quickly.  The last metabolic work up I had done was at Duke University Children's Hospital when I was 2-3 years old.

Included with these new doctors, will be other professionals that will evaluate and test me to see where I am in my development.  I'll meet with a developmental psychologist, occupational therapist (OT), physical therapist (PT), and speech and language pathologist (SLP).  I see an OT, PT, and SLP now but these work in the school system and are not of the same caliber that are common at teaching and research hospitals.

It will be a long and challenging road just like it was for me to get to surgery to treat my epilepsy.  We're all excited about the work that lay ahead.  My Dad will be traveling with me a lot to Birmingham, AL (our second home).  My Mom and Sisters will continue to care for me and help me everyday.  My new helper, "Miss Amy", is ready to help me on my journey too.  Miss Amy is super energetic lady that has me walking and working on my goals for much of the day.

I'll keep everyone up to date about this new and exciting chapter in My Journey...