Well it has been way to long since the last update. Rebecca has been doing fine the last 4 years. She will be 16 this October, and have gone from childrens hospital - unto adult hospital check ups, regarding hormons. They are still seeing her every year for tests.
We now know that she will have a larger chance for getting into a premature menopause and she is 97% likely to be sterile, due to her chemo treatment in 2001.
This year we have been to Amsterdam, where we met a young girl who was discovered having Griscelli at the age of 13. Her sister was a match so they did not have to look that far for a donor.
It was great to meet the whole family and to talk "Griscelli" with them. She is the only grown-up we have ever met, so to see her was fantastic.
Rebecca had a lot of questions and the sister did a great job translating. I hope that Rebecca will be able to talk to her in English next time we meet.
Rebecca has grown a lot, and lost all the baby fat. She is now 162 cm. and 46 kg. All the tests this last year has been very fine, even her donor cells have gone up.
It has been a long time since the last update, and it mostly because she is doing so fine.
This summer Rebecca started her puberty, it is a bit to soon, and it has been hard on both her and the rest of the family.
We have gotten a new MD. and he told us that it should have been stoped a long time ago. So it seem like she is going to be the short one in the family, only around 158 or so, compared to the rest who is + 175 cm
Well winter came with snow and cold; Rebecca has been out making snowmen all day.
Yesterday we went for her annual BMT check up. Her donor cells have gone up from 74 % to 85%, great news! The donor cells have been grooving in number for 10 years now, that makes me wonder why some MDs thinks that unrelated donor cells are a bad chose. Everything else seems fine as well.
We have finally solved the problem regarding reading and writing. It turns out that she has some kind of dyslectic problems. So it has properly not anything to do with her transplant.
We heard that we are now having 5-7 children in Denmark with Griscelli Syndrome; they are getting better and better to make the right diagnosis, thank God.
Rebecca has just been to her regular check up at the hospital, and the tests made the doctors a bit puzzeled!
It appears that the male hormone testosterone is almost twice as high as it should be. Moreover, there is really high activity in the pituitary gland, but the ovaries does not respond. Overall, it seems like Rebecca does not have enough female hormones to get into puberty, although she has both secondary pubic hair and breast development starting.
Apart from all this she is really fine; she is finally beginning to see the sense in being able to write and read.
It is hard to believe that another year has past, and Rebecca is still doing fine. When she was born we were sure that she wouldn't make it, but she proved us wrong.
This fall we had to give Rebecca the "pig flu" shot, it gave her a slight fever both times. Luckily the flu didn't hit Denmark that hard, so no one in the family got it.
Well another summer has gone by with out any problems. Rebecca is still growing as planed. She still has a bit of a problem regarding writing and reading, but it seems like she is improving very slowly.
We had her checked out by the dentist, and she told us that Rebecca's front teeth has been damaged by the BMT. The rest of the teeth seems fine, but she will always have tiny front teeth.
Well it has been way to long since we had an update. Rebecca is still doing fine. She has developed a false premature puberty and has to use deodorant every day. Apparently this happens to about 10-15 % of all girls. Her hormones have been checked very thoroughly and they seem fine. She is just more receptive to the male hormone.
The last year and a half has gone by without any major problems. She has grown a bit to fast at times; she is jumping up and down on her charts. So we are still going in for check ups every 3-4 months.
This summer the whole family vent to Malta on vacation. We were going to visit some of the Maltese families with Griscelli. It turned out to be one of the best vacations ever.
We arrived on Sunday, Monday we meet the Barbara’s and had dinner with them. They have a lovely daughter, age 2½, and it was so nice to see the two girls together. She had her BMT last year and is doing great. Wednesday we saw the ward where the doctors are treating the Griscelli children. It is brand new and state of the art. Thursday we met two families more at the Barbara’s place. We had dinner and the children played. It was so nice to exchange experiences and thoughts about the gene defect, and the future for the children. We all agreed that it was important to stay in contact. The children were a boy age 4½ and a girl age 1½. He has had his BMT but she has not. She fell sick after we had left Malta, and is now waiting for her BMT.
We all agreed that we are going to Malta again for sure!
This fall we did a bit of travelling. Rebecca stayed a week in Bethesda, Maryland, USA, to participate in various test concerning Griscelli Syndrome. MD Bill Gahl, who is investigating different gene defects, invited us.
We stayed at the Children’s Inn,which is a hotel for patients and their parents. Volunteer staff and donation runs it. Everybody made Rebecca and me feel so at home. It really is a home away from home.
During the stay Rebecca had her blood drawn, her urine, eyes and skin examined, all of her body photographed and of cause her weight and height checked. At one point she had 75 dermatologists trying to make the right diagnoses. They took turns so it took almost one hour, but Rebecca loves to be the centre of attention so she did all right.
The result of all the tests was surprisingly good. Rebecca has no problems with her eyes, kidneys or motor skills.
The stay was not entirely work, we had time to go to the Museum of Natural History, the Washington Zoo as well as an apple picking trip. Rebecca really loved the gems and the dinosaurs’ and of cause the pandas.
Almost a year has past, since our last update, and Rebecca is still doing fine. The last test done at the Rigs Hospital in Copenhagen has been OK. Her hormone counts has been a bit off, so we still have to go and have her tested every 6 months.
This summer we went to Greece and Rebecca stayed most of the time in the Sea or the pool. She got a very nice dark tan, even though she had sun block on all day.
She has started school this summer. That has been good for her, lots of new friends and activities. Rebecca now thinks that she is old enough to do the same stuff as her older sister.
This September Rebecca is going to Bethesda, Maryland to participate in some scientific tests. We hope that she by doing this can help other families and her self. She is looking forward to the trip, but mostly to see the Pandas at the Washington Zoo.
The summer came and went, and it turned out to be the most wonderful summer in a long time. Not a single day has she been sick, and all her tests have been fine this summer.
Rebecca has learned to ride her bicycle, still with her training wheels on, and she is very proud and so are we. Rebecca and her cat have developed a very close relationship, and they love to sleep with each other at night.
A week before her birthday she lost her first baby tooth, and the toothfairy came and took her tooth. That was almost as exciting as Christmass.
We have been looking forward to this,because of the risk of damaging her teeth due to the chemotherapy she had as a baby. It seems like they have not been harmed. We are keeping our fingers crossed for the next 26 teeth.
In the beginning of the year 2005, Rebecca ran into a whole lot of infections; week after week she had fevers, runny noses and days of coughing. We were a bit concerned, but it ended just as suddenly as it had begun. The rest of the year, until now, has been very good.
Rebecca’s speech has improved immensely and she is now speaking like every other child her age. Her mental and motor skills are also at age level.
We have been made aware of that because Rebecca had chemotherapy her skin is more likely to be sensitive and dry. That explains why she gets dry spots all over her body.
It has been a fairly good year for Rebecca; she still grows and develops as she is supposed to. In April 2004, she got the measles and had spots all over her body. She was given Zovir as precaution, and the whole ordeal was over within two weeks. This summer was the time when she got hooked on dresses and she has not worn trousers since. We have been to all her check ups and so far nothing has been wrong, as a matter of fact it seems like her donor cells are increasing in number, which is a good sign.
This fall Rebecca started in kindergarten, like any other normal child, and she loves every bit of it. She has not been sicker then the rest of the children; so the concern we had due to the heavy exposure in kindergarten, were without reason. She had the flu like the rest of the family, and that was it.
We had her in for her regular check up in mid January. She was doing fine, charming every one, until they put the needle in her arm. Right now that’s the hardest thing to deal with. We are still waiting for the results. But we are sure they are fine.
Rebecca has finally begun to speak, so much that some times we long for the old times. And we who did not believe the MD's, must admit that the period in hospital and the first half-year after that, was the exact time she was behind in speech.
We have just been in for Rebecca’s annual control. She had her heart, lungs, eyes, and growth checked and all seems fine. Even her blood samples were fine. She is now a very determent little lady. Her oral skills are improving every day. She has not had to stay a single day in bed all spring; all she got was a mild cold. It is more and more easy to think of her future as time goes by.
Around Christmas time it seemed like Rebecca's donor cells were on the rebound. It turned out not to be as bad as it could have been. Her T-cells are now for the C4 and C8 between 38% and 55 %. But other cells are as high as 85%. She had a few days of fever due to a virus infection in the beginning of the year. The good part is that she now takes her antibiotic as pills as long as she gets chocolate after wards. So for the first time, since she had a feeding tube, have we been able to give her a complete dosage. Her development is still normal; she says a new word nearly every day now.
Rebecca has started on the immunization program.
July 2002 turned out to be a good month.
We got the news that she didn’t have to come for her regular control until October. The family loves it and I’m sure that she is glad to be without the needles (blood test).
Our life is becoming more and more normal, but of cause we are anxious about the tests in October.
It's great to be a normal child again. Now she really is giving mom a hard time with the laundry.
By mid June she only had one incident with fever, which only lasted for a day and a half.
She is now growing into a determent little young lady.
She is a real girl; loves her dolls and always play “little mom”.
We have been concerned about the sun due to her hyper pigmentation. So far we have not been able to get an adequate answer regarding the long-term effect. So we are just treating her like any normal child, and are putting sunscreen factor 30 on her”.
Springtime has finally come. Both literally and in a figurative sense. Rebecca is exploring the countryside and she is going to her regular controls at a 3 weeks interval. The donor cells are still struggling to get the better of her cells. It seems like it's going to be a tie end.