As the physical therapy progressed, it was time to start the assessment of Ben’s increasingly significant mental delay. We were referred to a pediatric neurologist associated with the Medical College of Virginia. My most vivid memory of this particular doctor was not any great wisdom that he imparted about Ben’s condition or future, but it was his response to a question that I asked of him; one of the few questions that can really make a doctor squirm. I didn’t ask what was wrong with Ben; I asked why did this happen? Pretty unfair, huh? He could have said something abrupt like, “that’s a questions you’ll need to ask your spiritual leader”. But seeing that at this point I was grasping at everything for an explanation, he said something that really helped me put things into better perspective. He said, “Ellen, in all the years that I have been a doctor I have never lost my amazement for the miracle of childbirth. Millions and millions of things have to go right during conception, and the growth of the fetus to produce a healthy, normal baby. Yet it happens in our society about 90% of the time. Now that truly is a miracle”.
Since we were still without a diagnosis, the next step was genetic testing. There had been some remarkable strides made in this science in recent months and everyone felt certain that was where our answers would be found.
We returned to MCV Genetics in late July, 1990 and they did, in fact, seem to have much more in their arsenal. The doctor had close connections with the Molecular and Human Genetics Department at the Baylor College of Medicine in Houston, TX. Their work in chromosomal research had been the cutting edge in recent years. It was suggested that we not only to send Ben’s blood samples for analysis, but to also send samples of blood from both Dennis and me. This gave us great hope that, even though the testing could take up to a month be completed, we finally seemed to be doing something (anything) that would bring us closer to an answer.
Meanwhile, Ben continued to make great progress with his physical therapy. We purchased a corner seat in which he could sit with proper positioning of his trunk. The seat had a solid back and sides which gave good support and helped to build his back strength
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. We also purchased a walker for Ben mainly to be used with some of his sitting and head control exercises. It would be a few years before Ben actually used the walker for its intended purpose, and honestly at this point, I had very little hope that day would ever come. It was difficult watching other children Ben’s age starting to walk, while he was still far from sitting up. One of the many “contraptions” they used for Ben during therapy was a standing frame. It was a wooden frame with total support. While in it he could actually stand with perfect posture. I remember the first time I saw him standing in it. It almost brought tears to my eyes because he looked so “normal”.
As Ben’s neck became stronger a very peculiar behavior emerged that actually lasted for a few years. He would roll over to his stomach, bring his head forward and then throw it back just as hard as he could. I was sure he was going to break his neck or end up with whiplash. The doctors and therapists said that it was a stimulant to his body that most people get from normal physical activity. Since Ben still had severe physical limitations he had to get this stimulation in other ways; head jerking was his favorite. However, it wasn’t the favorite of the parents and doctors. We all concluded that this could not be good for him and spent several years trying to break him of the habit. Finally, as he grew stronger and was able to move around a little better the habit just went away. However he still likes to lie on his stomach and bounce; something he does for stimulation when he is tired.
July turned into August and still no news. The anxiety over what the test results would be, was almost too much to bear. The past year was really beginning to wear on me both physically and emotionally. Yet until we had definitive answers to our questions, I still held that ever-diminishing hope that once we knew what it was; it could be “fixed”. Finally we got the call. The test results were back and they wanted to see us as soon as possible.
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