Samantha’s Story
©Tina Kennedy 2005
Samantha
Although Samantha graced the world with her presence on June 15, 1991, I didn’t have the pleasure of knowing her until ten years later. The first time we met, I was visiting her father in Ohio. She and I had only spoken on the phone up until that point. She knew I was coming for a visit from Texas and was very excited. Her father, Mark, and I met on a support group for widows and widowers on the internet. We had already met each other face to face, but had not yet met each other’s children. Mark told me that Samantha was born with six digits on each hand and six on each foot. He did not elaborate other than to say that the doctors attributed it to the chemotherapy treatments her mother received a few months before Samantha was conceived.
I knew Samantha was special from the moment she bounced into the room. Upon barely introducing herself, she held out a present for me. When I opened the box, a little toy mouse jumped out and startled me. She laughed, and of course I laughed with her and told her she got me! She already had her digits removed and had gone through several surgeries on her knees. Since everyone seemed to accept that it was due to her mother’s cancer treatments, I just accepted it also.
Not long after Mark and I married, however, I started noticing other things about Samantha that didn’t seem to be normal. The most noticeable observation was that she couldn’t run. Whenever she tried, it would happen in a sort of slow motion mode. When she walked, her knees knocked together and popped out of joint. It appeared she had several missing several teeth, and those she had seemed to be shaped differently. I was curious about her fingernails, too. Putting it all together, I begin to wonder if there was more to it than just the effects of medication.
I took her to Beaumont Bone and Joint Clinic, which is about an hour from our home. The doctor there would not even attempt to treat her, and referred us to Dr. Davino in Houston. Mark was working, so Samantha and I left early in the morning so we could be sure to find the place…not only did I miss the right exit and get ticketed for going too fast in a school zone, the doctor had already left before we finally found the office. After this, I decided no more Houston, and we went north to Tyler, Texas. The doctor we saw there suspected some type of genetic disorder, and referred us to Dallas. Because of the distance from our home, the insurance wouldn’t pay for it—so, it was back to Dr. Davino in Houston. (This time I made sure I had better directions.)
The minute he saw her he said it was definitely genetic. He did a lot of x-rays and set up an appointment for us with a geneticist. Several months later, after testing her blood, heart, lungs, taking numerous pictures, doing full body scans etc., she was diagnosed with Ellis-van Creveld Syndrome.
My husband did not take the news well. He felt guilty for not pursuing the cause of Samantha’s troubles further. He had in good faith put his trust in a pediatric orthopedic doctor, who was supposed to be the best around. When he requested Samantha’s records from the family doctor, I found a note scribbled on the geneticist’s report from the date she was born: “This infant possibly has features of Ellis-van Creveld Syndrome.” Yet it hadn’t even been mentioned to the family, it had been completely disregarded.
Dr. Davino was great, though; he said it was all water under the bridge. He did more x-rays and decided it was too late for the stapling procedure, which, had they known it was EvC at the beginning, would have been the way to go at an early age. He performed an osteotomy on June 3rd of this year, correcting the alignment of the femur and the tibia so that the knee joint functions correctly. He is hopeful that this will be the only surgery needed to prevent the popping out of the knees.
Samantha enjoys arts and crafts, swimming, working jigsaw puzzles, cooking and clothes shopping. She plays the clarinet in the school band, and is hoping to be able to march by September. She wants to take twirling and flagging lessons, and to be a flagger in the high school band. She enjoys listening to contemporary Christian music and singing, and will be in the school choir this fall. She’s been teaching her boxer, Dodger, to fetch and sit, but has had trouble getting him to lie down (he’s been stubborn about that one). Samantha enjoys people and family, being tenderhearted and a compassionate. She is a tough little girl who has overcome many obstacles in her life, and doesn’t give up easily.
Even though it’s been overwhelming at times, I think God knew Samantha needed me, and brought us together. She is so grateful for everything. I truly want to be a real mother for her and I hope her mother, Adele, is looking down from heaven and smiling.
Samantha can also be seen in the photo gallery.
©Tina Kennedy 2005
Update: 13/7/05
On June 6th Samantha had corrective orthopaedic surgery to her shin bones, and her knee caps were relocated. Because she'd become so knock-kneed, she needed to have slow correction of her shin bones so external fixators were used to slowly bring the shin bones into the correct alignment. She has been incredibly brave and has already started walking with a special walking frame. Trips to the swimming pool bring light relief! She certainly doesn't let anything hold her back, and is really looking forward to a more mobile and less painful future once her fixators come off.
Samantha's fixators
( Click on thumbnails to see larger pic)
Swimming is MUCH more fun than walking!