The Christianville Spirit: The Study and A Surprise

The Christianville Spirit

The Spirit that Sparks Your Hearts

July 21, 2011- TCS # 259

Hello, My Readers. Yes, I know today is Thursday and I’m a day late. But, after I tell you what happened, You’ll know. So, for those of you who know me well, I have Potocki-Lupski Syndrome(PTLS). When I was 4, I was diagnosed. I went through the first study for this duplication when I was 9, which at that time was unintentional because My Mom knew that I had something but, she didn’t know what. Anyway, so the study was actually about the opposite of what I have, to make a comparison. You See, Potocki-Lupski Syndrome wasn’t what it is today. In fact, it was just know as A Duplication of Chromosome 17(or Medically know as dup.17p11.2) and they were doing a study of a Deletion of Chromosome 17p11.2 or also known as Smith-Magenis Syndrome(SMS). Anyway, Dr. Potocki decided to have me go through it again, only this time as a Young Adult. So, on Monday Night we drove down to Houston for the study, which would happen on Tuesday, Wednesday, and Thursday. Then, on Tuesday Morning we had to be at Texas Children’s Hospital at 8:00AM. After long discussions that were really good, We decided to redirect the study for another time. So, on Tuesday Night while we were waiting to go have dinner with another PTLS Family, that we’ve met many times before, that lives in Houston, I had the biggest surprise. You See, I watch this show on TLC on Tuesdays, ironically, called The Little Couple. It’s about two wonderful little people named Bill and Jen. Anyway, Jen, the star of this show, works in the NICU and Simulation Lab at Texas Children’s Hospital. So, My Mom apparently set up a surprise meeting; so, around 6:00PM she came through the doors to the research area where I was and she drove by in her fancy wheelchair, because the hospital is so big and it helps her get around quicker. When I saw her, I thought, “Wait a minute. Is that Dr. Arnold?!?” I walked out to see if it was her and that’s when I heard her voice when she was asking where I was, and I knew it was her. I said, “Hey Jennifer” because I knew that was her name. As she walked over, My Mom introduced us and she said, “Hi, I’m Dr. Jen Arnold”. So, My Mom and I got to talk with her for a short time, because we knew she was very busy.... And it was so awesome! When I saw her, I thought she was coming for another patient or something. But, little did I know, she was coming to see Me and best of all she knew my name. Now, I know I sound Starstruck, which I was. But, when someone that you watch weekly and are a Fan of knows Your Name, it’s very special. Anyway, she gave me her card with her and Bill’s Signature and I gave her a book of some of My Newsletters. I told her about PTLS and I told her how I see the world through My Eyes, which is Special. So, I asked her how she saw the world through her eyes, so I showed her what I meant by getting down to her level. She told me that she has to looking up a lot and it hurts her neck. She gave her really great giggle. She smiles all the time which is really wonderful to see. She also said we could be Friends and I could send her My Newsletters I write. After we talked with her and she left, I couldn’t stop smiling, even at dinner with the PTLS Family, which we did afterwords. To this day, I’m still smiling because for someone I so admire, and Inspires many people, for her to take time out of her busy 24 Hour day to come meet me is Awesome! After we hugged and posed for a picture. She had to rush home to get dinner for Bill who was at home watching Rocky and Maggie, their dogs. We certainly stay on touch!

So, on Wednesday Morning we had a nice final discussion with Pilar, the genetic counselor, and then we drove home. On the way, we stopped to visit my Aunt Cindy and Uncle Mike in Huntsville. We had an awesome visit!

All in all, It was a great visit. But, what more could you ask for; A Personal Hospital Section, A Personal Room, A Personal Nurse(Mindy and Rosa were great), and A Reunion with Dr. Potocki and Pilar, A great dinner with Laura, Laura, and Allison and all topped with seeing my new friend, Dr. Jen Arnold. Maybe Bill will join us next time. Thanks Jen!

Thanks for Reading The Christianville Spirit. Friends come in all sizes and differences. What a beautiful view of Life.