Post by Pinkfloyd on Aug 26th, 2009 at 2:17am
What is it with us and rare diseases?
I normally don't go off topic with this sort of plea and I'm sorry, but we're getting a bit desperate.
My brother's grandson, Jacob has been diagnosed with Monosomy 7 and Shwachman-Diamond disease.
I'd never heard of them either so I'm posting some basic information on them.
The reason I'm posting here is because we need help. Jacob needs a bone marrow transplant and he needs it this year. As you'll read below, one of the things this causes is Leukemia. He is already 85% of the way there and if he doesn't get the transplant before he's in full blown Leukemia (months away) his chances of survival go way down. The best information we have (statistically) is a paper that showed prognosis being much worse for patients with monosomy 7 who had progression to leukemia vs. patients that had the transplant before the monosomy 7 turned into leukemia.
In the study there was a small number or patients but the prognosis for being alive was 70% if a transplant was performed before progressing to full leukemia vs 25-40% if they did not have a transplant before progressing to leukemia.
DEFINITIONS
Monosomy 7: A rare chromosomal disorder where there is one copy of the genetic material in chromosome 7 rather than the normal two. The deletion of this chromosome if often associated with myelodysplastic syndromes and myeloid leukemia. The condition usually has a poor prognosis. Other defects may also be present in some cases.
Shwachman-Diamond Syndrome (SDS) is a rare genetic disorder that occurs in approximately one in 50,000 births. SDS affects many organs in the body and the symptoms may vary from individual to individual. The primary features of SDS include: bone marrow problems (leading to inadequate production of some types of white blood cells), a defect in the pancreas (leading to difficulties in digesting food), skeletal abnormalities, and short stature.
He will be in a special isolation unit for 3-6 months through the chemo & transplant.. how he body accepts the transplant largely determines his chance for survival. There are chances for infection, rejection, etc...
Here is the next hurdle. We can not find a suitable donor. They talk about matching 6 or 7 out of a possible 8 characteristics as the measure.. best is 8 of 8.
The best match on the national registry is a 4. The doctors really do not want to use this distant of a match.
All the family has been or is being tested. Nothing yet.
How you might be able to help. And yes, I know its a big deal and not something that is decided upon or done easily. Maybe you know someone that might be willing to do this.
Visit the International Donor Registry to sign up to donate blood cells. The test is painless and free. If you are lucky enough to match a sick child - you could save a life.
Please visit and register here - START PRINTPAGEMultimedia File Viewing and Clickable Links are available for Registered Members only!! You need to
or 
END PRINTPAGE
What I think is really wrong (besides everythng else) is that there is sometimes a cost associated with joining the registry. Its like a computer generated lottery. Some people that have joined, do so at no cost. Others, get asked to pay. I was asked for $55.00
The explanation for this:
"A: The total cost to add a new member to the Be The Match Registry is about $100. This includes the cost of the testing needed to match donors to searching patients and related costs.
Be The Match relies on financial contributions to help cover the costs of adding members to the registry. Others have contributed toward the costs for you to join today. However, there are not always enough funds to cover the numbers of donors needed, so sometimes new members are asked to pay some of the registration costs when they join.
Your contribution will make it possible for more people like you to join in the future."
Sounds like more people with a rare disease having to fund their own research/developement/treatmets. It's just not right. They ask you to be tested to become a donor, and then want to charge you for it?? WTF?? I just didn't want people going there and completing the forms and then getting slapped with this in the end. if you do this, maybe you;ll get lucky and it'll be free.
The test is simple. They send you a package with a few cotton swabs. You swab your mouth and send it in for a DNA match. (you felons out there might want to skip this ;)
They run their tests and add you to the list.
On another sad note, they need to run the tests when she's old enough, but his little sister Isabella (pictured) may also have this disease.
I understand this is something huge that I'm asking but if there happens to be one or two people out there willing to do this, you just might be a match to save a child.
If not, I understand completely and prayers are appreciated.
START PRINTPAGEMultimedia File Viewing and Clickable Links are available for Registered Members only!! You need to or END PRINTPAGE
thanks very much,
Bobw
One way or the other, I'll keep you all posted.
I normally don't go off topic with this sort of plea and I'm sorry, but we're getting a bit desperate.
My brother's grandson, Jacob has been diagnosed with Monosomy 7 and Shwachman-Diamond disease.
I'd never heard of them either so I'm posting some basic information on them.
The reason I'm posting here is because we need help. Jacob needs a bone marrow transplant and he needs it this year. As you'll read below, one of the things this causes is Leukemia. He is already 85% of the way there and if he doesn't get the transplant before he's in full blown Leukemia (months away) his chances of survival go way down. The best information we have (statistically) is a paper that showed prognosis being much worse for patients with monosomy 7 who had progression to leukemia vs. patients that had the transplant before the monosomy 7 turned into leukemia.
In the study there was a small number or patients but the prognosis for being alive was 70% if a transplant was performed before progressing to full leukemia vs 25-40% if they did not have a transplant before progressing to leukemia.
DEFINITIONS
Monosomy 7: A rare chromosomal disorder where there is one copy of the genetic material in chromosome 7 rather than the normal two. The deletion of this chromosome if often associated with myelodysplastic syndromes and myeloid leukemia. The condition usually has a poor prognosis. Other defects may also be present in some cases.
Shwachman-Diamond Syndrome (SDS) is a rare genetic disorder that occurs in approximately one in 50,000 births. SDS affects many organs in the body and the symptoms may vary from individual to individual. The primary features of SDS include: bone marrow problems (leading to inadequate production of some types of white blood cells), a defect in the pancreas (leading to difficulties in digesting food), skeletal abnormalities, and short stature.
He will be in a special isolation unit for 3-6 months through the chemo & transplant.. how he body accepts the transplant largely determines his chance for survival. There are chances for infection, rejection, etc...
Here is the next hurdle. We can not find a suitable donor. They talk about matching 6 or 7 out of a possible 8 characteristics as the measure.. best is 8 of 8.
The best match on the national registry is a 4. The doctors really do not want to use this distant of a match.
All the family has been or is being tested. Nothing yet.
How you might be able to help. And yes, I know its a big deal and not something that is decided upon or done easily. Maybe you know someone that might be willing to do this.
Visit the International Donor Registry to sign up to donate blood cells. The test is painless and free. If you are lucky enough to match a sick child - you could save a life.
Please visit and register here - START PRINTPAGEMultimedia File Viewing and Clickable Links are available for Registered Members only!! You need to
or END PRINTPAGEWhat I think is really wrong (besides everythng else) is that there is sometimes a cost associated with joining the registry. Its like a computer generated lottery. Some people that have joined, do so at no cost. Others, get asked to pay. I was asked for $55.00
The explanation for this:
"A: The total cost to add a new member to the Be The Match Registry is about $100. This includes the cost of the testing needed to match donors to searching patients and related costs.
Be The Match relies on financial contributions to help cover the costs of adding members to the registry. Others have contributed toward the costs for you to join today. However, there are not always enough funds to cover the numbers of donors needed, so sometimes new members are asked to pay some of the registration costs when they join.
Your contribution will make it possible for more people like you to join in the future."
Sounds like more people with a rare disease having to fund their own research/developement/treatmets. It's just not right. They ask you to be tested to become a donor, and then want to charge you for it?? WTF?? I just didn't want people going there and completing the forms and then getting slapped with this in the end. if you do this, maybe you;ll get lucky and it'll be free.
The test is simple. They send you a package with a few cotton swabs. You swab your mouth and send it in for a DNA match. (you felons out there might want to skip this ;)
They run their tests and add you to the list.
On another sad note, they need to run the tests when she's old enough, but his little sister Isabella (pictured) may also have this disease.
I understand this is something huge that I'm asking but if there happens to be one or two people out there willing to do this, you just might be a match to save a child.
If not, I understand completely and prayers are appreciated.
START PRINTPAGEMultimedia File Viewing and Clickable Links are available for Registered Members only!! You need to
or END PRINTPAGEthanks very much,
Bobw
One way or the other, I'll keep you all posted.