News
Dr. James Cleaver Gives Us Hope!
The following story appeared in The Globe
Online:
Date: 8/8/2001
" WASHINGTON - Senator Edward M. Kennedy has
introduced legislation that would dramatically increase federal spending
on rare diseases, including the establishment of regional ''centers of
excellence'' where
research on the 6,000 rare disorders would be conducted. Boston is among
the possible sites for such a center."
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To read the entire story, click on the link below or cut and paste it
into a Web browser:
http://www.boston.com/dailyglobe2/220/nation/Funds_sought_on_rare_diseases+.shtml
Dr. James Cleaver Gives Us Hope!
Dr. James Cleaver of the University of California, San Francisco plans to extend his research from the DNA repair aspects of CS into the neurological aspects. This will be done by developing new mouse strains that more faithfully show the central nervous system and skeletal developmental problems of CS patients, and then use these for further development of treatment and therapeutic intervention. The anticipated outcome of these studies is that the mouse strains will be usable to develop new approaches to treatment. This might involve discovering whether particular mixtures of strong antioxidants (e.g. vitamin E in particular) might help relieve or prevent severe symptoms in patients, and could lead to the development of new drugs for treatment.
The Luke O’Brien Foundation is funding a fellowship to aid Dr. Cleaver in his research efforts. Dr. Cleaver also receives support from the XP Society. With interest and support from both groups, he has been able to rebuild a significant research group that he anticipates will have another 5-10 years of activity.
Dr. Cleaver would like to emphasize that for both CS and XP patients, he is exploring the problems of the neurological disorders that are found in both diseases. The work for CS patients is a practical study of dietary changes and the work for XP patients is evaluating the possibility of gene replacement and specific anticancer therapies.
We are fortunate to have such a distinguished researcher working so hard to find a cure. For more information about Dr. Cleaver and his research, go to: http://cc.ucsf.edu/cleaver.
The Second Annual Retreat was held May 21 – 23, 1999 at Higher Ground just off the Blue Ridge Parkway in Virginia. Twelve families attended including a total of 13 children with CS. We were honored to have Dr. Thad Kelly come this year.
We enjoyed the fellowship on that beautiful mountain as we watched the children play together. We laughed and cried and hugged each other before saying our good-byes promising to see each other next year.
Letters received after the Second Annual Retreat:
Thank you again so much for all you have done on behalf of our special children and their families! I am so glad that we were able to make the retreat. Unless there is some family emergency, we will make every retreat there is in the future. We all know that having a special child has changed us and the way we look at life. Meeting so many other special families has changed me even further. I have thought of little else but the retreat since leaving on Sunday. I wish I could be surrounded by those people that I met all the time, but I know that I will see them all again and, hopefully, correspond with them until we do meet again.
Please forward this letter to any or all of the families. I hope that those who did not make it will attend next year’s retreat. It helps! I will pray for all the children and their families.
John R. Knotts
This is a college English essay written by Ruby Hill, mother of Jesse Bobbitt. She made an "A" on it!
Having a child with special needs can be very hard for some parents. Some even have to learn to love their special needs child. I never felt that way about Jesse. I loved him from the moment he was born. Jesse was three months old when he was diagnosed with Cockayne Syndrome.
The rewards that a parent receives are sometimes different if the child has special needs. Because Jesse could not walk or talk, I never got to hear him call me "Mama," or have him come running into my arms for a hug. My rewards were smiles and Jesse laughing out loud.
Sometimes it was hard accepting that those were the only rewards that I would ever receive, but the hardest part was accepting the actual syndrome. Because Cockayne Syndrome was so rare, very few of the doctors that I came into contact with had ever heard of it. When Jesse was born, there were approximately 45-50 known cases of living Cockayne Syndrome inflicted children world-wide.
Not long after Jesse was diagnosed, I was given a short story called "Welcome to Holland" that had been written by Emily Parker Kingsley, another mother of a special needs child.
In the story, she compares the pregnancy and birth of a child to planning and taking a trip to Paris. The plane and hotel reservations are made. The itinerary of the places to go is set. Finally, the big day comes and the plane has landed.
"Welcome to Holland," you hear. "Holland," you say. "I was not supposed to go to Holland. I am supposed to be in Paris. Paris has The Eiffel Tower and The Mona Lisa."
As you get off the plane, you notice how beautiful it is in Holland. Holland has windmills and tulips. You realize that even though you did not make it to Paris, you are not in a bad place, just a different place.
The point of her story was to let parents know that if they spent their lives dwelling on the fact that their child was not born the way that was expected, then they will never know the joys of being a parent to the child that they did have. This story was my lifeline at times because it was the best description of what it feels like to become the parent of a special needs child. It stayed on my refrigerator for a very long time.
I learned a lot of things taking care of Jesse, but the most important thing he taught me was patience. Before he was born, I did not have enough patience to deal with the behavior of a "normal" child, much less one with special needs.
So Now You Know It’s Cockayne Syndrome
What Does the Future Hold?
By: Tim Caulfield
When we found out our son had Cockayne Syndrome (CS), the first questions we had were, "What does that mean to his future? What path will the disease take?" Our geneticist gave us what turned out to be a fairly accurate picture, but said that this was the first case he had seen and that he had to rely on the medical papers and journals that he had read.
The result was a frantic search of the Internet, medical journals, and genetic journal articles. This allowed us to get the big (if vague) picture in terms of life expectancy. However, while all of these sources told us a lot about the symptoms, pathology, and diagnosis of CS, they supplied virtually nothing on the course that the disease would take from diagnosis forward.
It was only after we received and read all the back issues of the Share and Care quarterly newsletters and put it together with all of the rest of the information that we were able to put together an overall picture to the probable course the disease takes. We supply this layman's summary in the hope that it might be added to the CS Handbook or published on the Share and Care Web site so that when parents with recent diagnoses go looking, they will be able to get an early overview. This could avoid the seemingly long period of uncertainty that we went through.
Life Expectancy – Diversity
One of the first things that most people will encounter in a search of the information available on the Internet is the split of children with CS into Type I, typical, and Type II, early onset. There is also a late onset in which the children are mildly affected. It is important to understand that these are broad categories and that many children do not fit neatly into one or the other. Through the review of the Share and Care newsletters, the diversity of the CS population became obvious. While the average life expectancy is 12 years and 3 months (Nance and Berry, 92) the range of individual life expectancy is wide. CS life span can be from less than two years to over thirty years, although both of these are the extremes. Of thirty-seven cases discussed in the Nance and Berry paper, 16 died in the first decade, 13 died in the second decade, 6 in the third, and 2 in the fourth. Severe or pronounced symptoms at birth or within the first year seem to be indicators of early demise. For example, the Nance and Berry paper said that the presence of cataracts within the first three years seems to be a predictor of early death. Nine of the 16 who died in the first decade had cataracts within the first three years. Of those who had cataracts in the first three years, only one made it into the second decade. None of the children who had cataracts in the first three years lived into their twenties.
Conversely, the children with CS who lived into their twenties and thirties seemed to be the ones with fewer and less severe symptoms. They could often walk, appeared to be more able to talk, and took care of many of their own needs. Some succeed at signing their names and handling money. So, it would appear that the earlier the symptoms occur, the more severe the symptoms. And, the more symptoms that the child has, the shorter the life expectancy. The later, fewer and milder the symptoms the longer the life expectancy. But, as our geneticist pointed out, you have to look at the child's health now, then project forward.
Probable Course of the Disease
The issue that is least discussed in the literature is the course of the disease, yet this is the issue that is foremost in the minds of any parent that has just learned their child has CS. The reason that this is discussed so little is that there is such variation that no one wants to commit to a "prediction." One of the widely stated facts is that the most common cause of death is pneumonia/respiratory infection. However, it doesn't say whether this occurs in otherwise healthy seeming children or whether it is the final cause of death in children who are in the final stages of fighting for their existence.
A review of the Share and Care newsletters was very helpful in painting a more complete picture. While it is still impossible to project the specific path that a particular CS child may take, there are some fairly clear trends that come out of such a review.
Otherwise healthy CS children seldom simply get a cold or other respiratory illness, have that turn into pneumonia, then die as a result. It appears that death from pneumonia is more the final cause of death when the child is weakened due to the accumulated results of the disease.
The general path the disease seems to follow is a relatively stable period followed by a slow but ever increasing degeneration. That stable period can be as short as months or as long as decades. The best current indicators of the length of the stable period still seem to be how early the symptoms show themselves.
Low weight and small head at birth, combined with cataracts and hearing loss within the first three years seem to predict the shortest average life expectancy.
Normal birth weight with relatively normal first year development, then cataracts and hearing loss in the first three years also have short life expectancy, however, it would seem not as short as low birth weight/small head children.
Children with other CS symptoms but without cataracts in the first three years seem to have longer life expectancies.
Children that are the heaviest seem to live the longest. However, it also seems that parents have virtually no control over the weight of their children. Tubes to feed children directly to the stomach (often called G-tubes) seem to have small short term effects, resulting in 3 to 4 pound weight gains, then stabilizing. It would appear that the heavier children are simply heavier because they have a milder form of the disease, so they live longer.
It should be said that the "stable period" is only a relative term. During this time, the child will probably be showing more and more signs of the disease. As they get older, the characteristic look of CS develops, mental retardation becomes more evident as development slows, and hearing, sight and other senses and abilities begin to wane. But, they are generally healthy and the declines are slow.
A relatively fast decline seems to follow the "stable period." The length of the decline seems to be dependent upon the severity of the disease in the individual child and the degree of in- tervention used to get the child through each crisis.
In the more severe cases, the children are physically weaker to start with, so they seem to have more trouble sustaining themselves through the final stages. This results in more rapid decline.
In the less severely afflicted, the decline can last years. They start with higher body weight and less severe issues to deal with.
The battle for life often seems to go through a series of stages with the child being weakened and less able after each stage. The stages result when the child develops either a normal childhood illness or some complication of the disease, battles the issue either with or without hospitalization, then recovers but is less responsive or less able to leave the house. In the final stage, the weakened and vulnerable child may get a respiratory infection that develops into pneumonia and the child simply cannot overcome the infection. Thus, the high probability of death from pneumonia.
While hospitalization did often seem to get the children back into the home, it seemed clear that they had lost ground. This seems to lead to ever shortening cycles until hospice becomes necessary or death occurs.
Hospice is often required to support the parents in the home when the child enters the final stages. The length of hospice is highly dependent upon the severity of the disease.
This simplistic summary is one parent's analysis of the probable path CS takes as it progresses. It should not be taken as any more than that. It is offered in the hope that other parents of newly diagnosed CS children will have some quick access to this assessment.
Tim Caulfield may be contacted at:
(510) 531-1080 or