Jeanie Kemp discovered she was a fragile X carrier only after the birth of her daughter Jessica’s first child James. James had lots of health issues as a baby but it was not until he was four that he was diagnosed with the fragile X full mutation. By that time he had a sister Alice who also proved to have the full mutation.
And the implications of course, did not stop there. Further investigations showed that Jessica was a carrier, so was her mother Jeanie and so were two of Jeanie’s brothers who both had daughters of child bearing age who are also carriers.
It is a genetic nightmare and ironic too that James’ parents are both scientists working in the world of genetics and cancer research.
James is very much in the autistic spectrum and now aged eleven goes to a special school near Cambridge. Alice copes better and is still being taught in mainstream school at the age of eight. Like many grandparents today, Jeanie does her share of child caring and always looks forward to seeing James and Alice. Taking them into town has its funny moments as she reports below.
I have just returned from a day with my wonderful, amazing grandchildren, James and Alice. They both have Fragile X. James is 11 and Alice is 8. The day began for us at about 10.00am. I collected them and we went to the library, where they had to relate the stories they had read from books they had borrowed during the holiday, so that the final stamps could be collected for their record cards. Today they were “tested” on the last 2 of their books,
out of 6 selected to be read during the holiday. They already had 4 stamps. I was very impressed by the way each of them related the stories they had read to the librarian. Alice was first and went on and on. Her lengthy account was full of details and became quite tedious to James, who was impatient to do his “test”. He kept butting in but did manage to wait until it was his turn. His account was also clear and good. His answer to the question “What was your favourite bit of the story?” was “At the end when they got married”. During all the testing I had misplaced one of the books that they were returning. I had to confess to another librarian and despite a search by several others it wasn’t found. We left under a bit of a cloud.
Off we went to discuss what we should do for the rest of the morning. I chose the Oxfam shop where I bought a great pair of jeans. They both wanted food but since I had a picnic waiting we went to a local café for drinks. We chose 2 large apple juices and a coffee to celebrate the awards of certificates and gold medals to my proud pair. We were even more excited to find that a dear friend of their mother’s was in charge of the cafe. Amidst over-active play at the table, having been told to calm down by me, Alice managed to shoot her nearly full glass of juice all over the table, me, my new trousers, my chair, their library certificates and a surprising amount of floor. She immediately started sobbing (I feel as a defence measure). 2 mops and several cloths managed to dry up everything except me. James screwed up and threw away the sopping certificates. We left the café with Alice still whimpering. I said that the library might replace them if everyone stopped being cross and sad. I could see the librarians’ faces fall as they saw our team enter again but they did issue James and Alice with clean and dry certificates and so we left happily.
I resisted the fairly constant calls of starvation and thirst from my two as we explored the streets of Saffron Walden. They each held their certificates and medals throughout. We came across a brilliant classical guitarist playing outside Smith’s and showered him with coins. I hope he wasn’t hurt! We went back to the car park and home.
Home includes 3 chickens which are excellent escape-artists from their coop. The children rushed through the house to the chickens which are loved and hugged firmly and are remarkably tolerant of these attentions. Earlier James had rushed out into the garden to look after the hens and had zoomed back into the house with his shoes covered in chicken poo. I cleaned the resulting mess but discovered by doing this that the dustpan and brush had been worn out, as had the floor-cleaning bucket. This suggested an activity for the afternoon. Alice told me that Homebase was the only place in town which sold such items. I had no idea where this store was but I was assured that James knew all the ways around the roads. In fact James himself told me that he was the navigator! Off we went. During my navigator’s clear guidance he was fiddling with a pen in a well between his passenger seat and my driver’s seat. I heard him say “Oh this is wet! This is black and disgusting!” I was in heavy town traffic and couldn’t do anything. He was wiping his inked fingers on his nice trousers, his jumper, my car!! We got to Homebase with me shouting “Don’t touch anything!” I held him by a clean bit of his sleeve and dragged him to a member of staff. She didn’t want him anywhere near her either and took us to the staff loo. We managed to get clean enough to buy the bucket and brushes but the ink on him and myself was remarkably persistent and lingered on hands. Jamie’s trousers will certainly become cleaning rags. Alice in a white T-shirt remained unusually spotless all day.
At the end of my stay, about 6.00pm, Alice told me that she thought this particular day of my being there had been “the best day ever. It’s been such fun,” she said.
I came home to a very large glass of wine. This had been recommended by the kind lady at Homebase.