Time for another x-ray

At 9:00 this morning I waved good bye to Paul and Clark. They were driving to Burien where Paul has played racquetball every Wednesday for many years. He was going down to play and Clark was going down to sit. Most of us would not enjoy sitting in the car in the parking lot for two hours but Clark is content to just sit, unlike Phil. At noon they would be going to the hospital (Highline Medical Center) so Clark could have a chest x-ray. For the past few months he has seemed to be winding down, not wanting to go to Special Olympics, taking a long time to dress, not feeling well enough to go to church (which he normally hates to miss) and complaining about aches and pains in his side. I have often wished that I could slip into his skin for a few minutes to determine what it is he is feeling. We finally took him to his doctor who recommended a chest x-ray which showed a large abscess in one of his lungs, probably caused by aspiration after a grand mal. He has been on an anti-biotic for three weeks. If that does not clear it up he will have to have a bronchoscopy.

On Memorial Day we went to Olympia to visit our daughter, her husband Colt and our grandson. We walked over a mile to a restaurant and then on our return we took a detour so we could see Capitol Lake. Clark kept up. As we walked past the Capitol Building and into a residential area I turned around to see if Clark was still keeping up with the six of us. He was staggering. He was headed into a grand mal so we helped him lay down on the grass. After 15 minutes he was through with the seizure but not well enough to walk another mile. Colt ran home to get the car and returned to pick up Clark. It is interesting to me that Clark has the majority of his seizures (about eight seizure days a month) at home. Seizures have been part of the pattern of our lives since Clark was four and diagnosed with epilepsy which affects 20% of those with fragile X. Phil is not affected. Despite four different seizure medications he is not seizure free but he enjoys life and always prays fervently for help when he can tell he is going to have a seizure.

I Will NOT Take Chemistry

I resolved in high school that I would not take chemistry. I renewed that resolution in college and now I’m sorry. Well, not too sorry but a little. If I had known during those years that I was a carrier for fragile X syndrome and that someday I would have two sons with fragile X I would have been more highly motivated.

As a member of an advisory board, I spent this past weekend at a retreat at the University of Washington Friday Harbor Laboratories with scientists and geneticists from across the country for one of the three national Fragile X Research Centers, the University of Washington in collaboration with UC Davis M.I.N.D. Institute and Rush Medical Center in Chicago. I understood little of the scientific PowerPoint presentations made in the morning meetings. They revived a weak determination to read a short, very basic book on chemistry. My notes were mostly: look up hemi-methylated, crossover during PCR, isoforms, knock out mouse and more. The afternoon lectures were on newborn screening for fragile X, symptoms of FXTAS (Fragile X-Associated Tremor/Ataxia Syndrome—a disorder that can affect carriers), minocycline as a promising drug for patients with Fragile X Syndrome. I could understand a lot more in the afternoon. Tiina Urv (an Estonian name) from the National Institute of Health was there to make sure that money was being used as written in the grant proposal.

I realize I am not unique when I say that I didn’t know the route my life would take as I made plans during my teenage years. Many of those plans have come true (no chemistry classes for me amongst other more significant goals like marriage and children) but I continue to be amazed at what I have learned and experienced in having two sons with fragile X.

Walk to the Stream

About ¼ mile from our home is a stream that meanders through backyards and emerges at a turn in the road. In an attempt to get Clark and Phil to exercise more we require that they walk to the stream and back. The requirement used to be Monday through Friday but when Phil became employed his dropped to two days a week since he walked more than a half mile to his bus stop and back three days a week but Clark was still to walk to the stream and back five days a week. They never walk together. Phil wants the job done quickly; Clark would rather stroll. Clark has also decided that he would rather walk 1 ½ miles with me than walk ½ mile alone. A week ago I told Clark I would walk to the stream and back with him since I had already been out earlier. Part way there I picked up my pace in an attempt to get Clark to walk faster. Suddenly I heard Clark hit the pavement as his head brushed the back of my leg. I helped him to his feet. One hand and one knee were scraped but only slightly. While brushing off his sweats he said “That was not very fun.” and continued to say it over and over as he held firmly onto my hand. “I’ve fallen too and it isn’t very much fun.” I said in an effort to get the focus off his fall. “What happened?” he asked. I explained that there are uneven places on the sidewalk and his toe hit one of them. “I know who did it; It was some boys.” he said, trying to place the blame on someone else. This scenario was sounding familiar—the fall, murmuring about the pain, blaming others, the clasping of an extended hand to help us not do that again. By the time we reached home Clark was saying “I don’t want to fall again.”

A Trip to the Doctor

It is 4:20 a.m. and I’ve been awake for over an hour. Rather than toss restlessly I decided to come to the study but only after I checked Clark. He has been sick off and on for the past month or two and is not improving so we took him to the doctor, and family friend, yesterday . Normally, Clark’s anxiety about going to the doctor causes him to be defensive. From my March 2004 journal

“Dr. P. and his nurse earned their pay today when I took Clark and Phil in for physicals (Special Olympics requires one every three years). Clark did fine until he was asked to deposit a sample in a cup. He informed Jason (the nurse) he was going to call the police so Jason got me (I was in the waiting room).”

There was no success in getting a sample five years ago or yesterday. We were told that we could get a sample at home, put it in the fridge and bring it in today when my sweetheart takes Clark in to get a chest x-ray. Phil saw the successful sample later in the day and asked why there was pee in the fridge. He had his own problems five years ago at that same physical.

“Phil wanted me in there with him. When he was asked to walk on tip toes, his heels, etc. we did it together. Then Dr. P. wanted to check his eyes. ‘Open your eyes wide Phil.’ Phil opened his mouth wide and his eyes became slits. ‘This is serious, Phil. Open your eyes. Close your mouth.’ When he closed his mouth his eyes also closed. Dr. P. gave up. Phil is petrified of needles so I couldn’t imagine what he would be like when he had to have blood drawn and a tetanus shot. He wanted to hold my hand and then he was incredible. He pulled a face and jiggled his feet when he was having his blood drawn but he held his arm perfectly still. He was still for the shot. I was very proud of him.”

Even though I found this trip to the doctor hilarious, Dr. P., the nurse, and I were exhausted when the physicals were over. I was glad it would be three years before I would have a new "trip to the doctor" to write about.