Tosh Joseph Coulfield
4-11-86 ~ 11-5-03
CS-2
General Development and Weight
Tosh followed typical course of a moderately impacted CS child. He appeared fairly normal at birth, with normal birth weight and a small head. At 6 months he had bi-lateral cataracts and was operated on to remove the lenses from his eyes. He wore contacts for the 15 years, until he went blind. At 18 months we discovered that he had a mild high frequency hearing loss, and he still wasn’t walking. This all led to a diagnosis that he had had a brain insult during pregnancy, probably from a virus, and that his development would be limited but stable. Genetic testing was done on us, but not on him at the time. It showed nothing.
Over the years Tosh developed to the point where he weighed about 32-33 pounds. He was a natural at riding a tricycle and using a walker. He eventually progressed to a bike with training wheels. As he got taller (eventually reaching about 42 inches) he seemed to have more trouble with balance and we abandoned the bike for a combination of wheel chair and walker. The first time he got in a wheel chair he knew what to do, and went straight on from there. Eventually he got a power chair and (with training) was a whiz at it. We always had a remote control kill switch to control him and save him from accidents, but he loved it and was good at it. At about 11 years old he got a G-tube and his weight went up to 35 pounds where he stayed for the remainder of his life. When he was 12-13 he started running into things with his power chair that he should have seen. This lead to diagnosis that he was slowly losing his sight, which under the diagnosis shouldn’t have been happening. A CT scan showed large sacks of fluid in his brain that were not there when he was 2, and extensive calcification. This lead to further genetic counseling, resulting in a rapid diagnosis of Cockayne’s Syndrome, despite the fact that the doctor had never seen a case before. Over the years he had developed the classic CS look. When we went on the web and learned about CS, he fit just about every category described for CS kids. Between the ages of 13 and 17 and a half, Tosh progressively lost his sight, then the hearing in one ear, then the hearing in the other ear. The sight seemed to slip away progressively. While his hearing was getting progressively worse, when it went in each ear it seemed to go literally overnight. For about the last year and a half he was both deaf and blind. During this time he lost much of his sunny disposition as he sequentially lost the ability to do the things he loved doing most (his ability to drive his power chair, to greet people, to listen to music). Toward the end he suffered from dementia, forgetting where he was, not recognizing either of his parents at times, and being angry and contrary a lot of the time.
Tell me a little about him.
Tosh should have been a diplomat. He had a happy, outgoing disposition. He loved to hug people and would stop and smile and grab peoples hands in public. He could for many years follow complicated instructions, and when he set his mind to doing something he almost always did it. He gave a lot to most of the people he met. In short, he was a great little guy who generally made people comfortable despite his disabilities.
Tell me about the process that led to his diagnosis.
See general development above.
What about his physical and mental development?
See general development above for weight. He had pretty good manual dexterity. He learned sign language (at one point about 200 signs or more) he learned to count to 10, and between sign, verbal (up to 3 word sentences at peak), and expressions, he got everything he wanted and more. He probably never had a mental age over two or two and a half, but he had a social age that pretty much kept pace up to 8 years old then slipped more and more behind. He was in full inclusion until high school, when it really didn’t work and more.
What type of medical problems did he have?
Tosh was pretty healthy, except for the CS. He had normal colds, and childhood sicknesses. He never got chicken pox or measles, and only got the flu a couple of times, and had fevers very rarely. Most of his medical visits were around his lack of weight gain, mussel tone, sight, hearing, or mobility. He had high blood pressure and toward the end he suffered from dementia, resulting in anxiety. He took anti anxiety medicine for the last year or so. But who would be anxious if you can’t see, hear, and are losing your memory?
Did you use a G-tube?
See general development above. We held off on the G-tube for quite a while because we though it would mean he wouldn’t eat, and he was both physically and mentally healthy. In reality it made life a lot easier and he ate about the same. It made giving him medicines (aspirin, cold medicine, medicine for stuffy nose) very much easier. At the end of life it was critical to giving him pain medicine.
Was he sensitive to the sun?
Yes, he always sunburned very easily. Generally we were able to handle this with good sunscreen applied diligently, long sleeve shirts, and bill caps. But you only had to slip up a bit and he would end up with sunburn.
Is there anything else you’d like to add?
His eyes were light sensitive, mainly because his eyes didn’t dilate normally. This is true for most CS kids. So he wore the bill hat and sun glasses to control the light. He would take them off and put them on as he needed.
While we tried many different electronic devices to assist in speech, they never seemed to be more than a way of socializing for him.
If people have questions they can email us at Tim@EquipoiseConsulting.com or Tina at TCasenza@yahoo.com.