Final Appeal for Sawsan Moubarak
Friends, those of you that are following this blog, Jason would like you all to know that Sawsan and him have reached safely to India and are in the Hospital. We are still short on the funds, so those of you have not had a chance please do consider a donation. Below is an email from Aaditya's Dad.
On Fri, Feb 20, 2009 at 8:08 PM, Ravi Dasgupta wrote:
Dear Friends,
As most of you know my son Aaditya had an intracranial stem cell transplant a couple of months ago for a rare genetic disorder called Niemann Pick Type C ( its a storage cell disorder that causes cholesterol to build up in cells eventually killing them ). There are currently about 500 children around the world suffering from this disease for which there is no known cure.
My sons treatment was covered in Bangalore Mirror last month and Hidustan Times did a front page cover of it in all its editions.My son is the first child to get an intracranial stem cell transplant for this disease and also infusions of Cyclodextrine ( a complex sugar that has been known to combine with the cholesterol and take it out of the body in mouse models ).
http://www.hindustantimes.com/StoryPage/StoryPage.aspx?sectionName=HomePage&id=f96413fa-7b84-47be-ae5b-58b81f4196f7&&Headline=First+stem+cell+brain+surgery
While grappling with my sons condition my family has come across several other families in the same situation. My sister in law Duriya ( cced on this mail ) has set up a web site www.hopeforaaditya.org and with the help of fund raisers ( especially by my neice Shama ) was able to collect about $ 7000 in the USA. The stem cell treatment for my son had cost us Rs 4.5 L which was paid for entirely by the hopeforaaditya funds plus some help from my family. The support was so strong that I actually have only had to pay for his hospitalisation during the cyclodextrine infusions.
I am writing this mail as Sawsan Mobarak another child with NPC is arriving in Bangalore today and we hope to put her through the same treatment.
The stem cells come from Stempeutics in Manipal Hospital and the transplant will be done by Dr. Venkataramana a neurologist with BGS Global hospital.
Duriya and my wife Tasneem have been pleading with the hospital to reduce the cost of treatment ( they had quoted $ 35000/- for the package initially and we have got some releif.
While we will continue to work on the hospital its already clear that we will need to raise a lot of funds for this procedure in a short period.
This mail is to ask for your help. I will be contributing Rs 50K myself and I hope my friends and other well wishers will pitch in with what ever help they can.
Thank you.
On Fri, Feb 20, 2009 at 8:08 PM, Ravi Dasgupta wrote:
Dear Friends,
As most of you know my son Aaditya had an intracranial stem cell transplant a couple of months ago for a rare genetic disorder called Niemann Pick Type C ( its a storage cell disorder that causes cholesterol to build up in cells eventually killing them ). There are currently about 500 children around the world suffering from this disease for which there is no known cure.
My sons treatment was covered in Bangalore Mirror last month and Hidustan Times did a front page cover of it in all its editions.My son is the first child to get an intracranial stem cell transplant for this disease and also infusions of Cyclodextrine ( a complex sugar that has been known to combine with the cholesterol and take it out of the body in mouse models ).
http://www.hindustantimes.com/StoryPage/StoryPage.aspx?sectionName=HomePage&id=f96413fa-7b84-47be-ae5b-58b81f4196f7&&Headline=First+stem+cell+brain+surgery
While grappling with my sons condition my family has come across several other families in the same situation. My sister in law Duriya ( cced on this mail ) has set up a web site www.hopeforaaditya.org and with the help of fund raisers ( especially by my neice Shama ) was able to collect about $ 7000 in the USA. The stem cell treatment for my son had cost us Rs 4.5 L which was paid for entirely by the hopeforaaditya funds plus some help from my family. The support was so strong that I actually have only had to pay for his hospitalisation during the cyclodextrine infusions.
I am writing this mail as Sawsan Mobarak another child with NPC is arriving in Bangalore today and we hope to put her through the same treatment.
The stem cells come from Stempeutics in Manipal Hospital and the transplant will be done by Dr. Venkataramana a neurologist with BGS Global hospital.
Duriya and my wife Tasneem have been pleading with the hospital to reduce the cost of treatment ( they had quoted $ 35000/- for the package initially and we have got some releif.
While we will continue to work on the hospital its already clear that we will need to raise a lot of funds for this procedure in a short period.
This mail is to ask for your help. I will be contributing Rs 50K myself and I hope my friends and other well wishers will pitch in with what ever help they can.
Thank you.
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About
Niemann-Pick Disease
Niemann-Pick disease is an inherited condition involving lipid metabolism (the breakdown and use of fats and cholesterol in the body) in which harmful amounts of lipids accumulate in the spleen, liver, lungs, bone marrow, and brain.
There are three variants of Niemann-Pick disease based on the genetic cause and the symptoms exhibited by the patient. All variants are inherited in an autosomal recessive pattern.
Mutations in the NPC1, NPC2, and SMPD1 genes cause Niemann-Pick disease.
This condition is inherited in an autosomal recessive pattern, which means two copies of the gene must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene. If both parents are carriers, there is a one in four, or 25%, chance with each pregnancy for an affected child. Genetic counseling and genetic testing is recommended for families who may be carriers of Niemann-Pick.
Type C is characterized by onset in childhood, although infant and adult onsets are possible. Other signs include severe liver disease, breathing difficulties, developmental delay, seizures, increased muscle tone (dystonia), lack of coordination, problems with feeding, and an inability to move the eyes vertically. People with this disorder can survive into adulthood. The incidence of Niemann-Pick disease, type C is estimated to be 1 in 150,000 people. The disease occurs more frequently in people of French-Acadian descent in Nova Scotia.
Mutations in either the NPC1 or NPC2 gene cause Niemann-Pick disease, type C. The NPC1 gene produces a protein that is located in membranes inside the cell and is involved in the movement of cholesterol and lipids within cells. A deficiency of this protein leads to the abnormal build up of lipids and cholesterol within cell membranes.
The molecular basis for this disease is extremely complex due to the role that endosome formation has on affected patients. Recently, three theories have attempted to explain the buildup of cholesterol in the lysosomes of affected patients of Niemann-Pick Disease Type C due to the malfunction of the protein NPC-1.
* The contention by Neufel et al is that the buildup of mannose 6-phosphate receptors (MPRs) in the late endosome suggests that the retrograde breakdown of cholesterol via the Trans Golgi Network cannot occur.[1]
* Another theory suggests that the blockage of retrograde cholesterol breakdown in the late endosome is due to decreased membrane elasticity and thus the return vesicles of cholesterol to the Trans Golgi Network cannot bud and form.
The support of these theories has considerable evidence using mutant proteins in vitro to determine the buildup of cholesterol in the lysosomes. Researchers have also discovered that the NPC-1 protein may function as a pump of cholesterol.[2]
The overall effect of a malfunction in NPC-1 is that low levels or an absence of the protein lead to the abnormal accumulation of lipids and cholesterol in the cells of people with this condition.
There are three variants of Niemann-Pick disease based on the genetic cause and the symptoms exhibited by the patient. All variants are inherited in an autosomal recessive pattern.
Mutations in the NPC1, NPC2, and SMPD1 genes cause Niemann-Pick disease.
This condition is inherited in an autosomal recessive pattern, which means two copies of the gene must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene. If both parents are carriers, there is a one in four, or 25%, chance with each pregnancy for an affected child. Genetic counseling and genetic testing is recommended for families who may be carriers of Niemann-Pick.
Type C is characterized by onset in childhood, although infant and adult onsets are possible. Other signs include severe liver disease, breathing difficulties, developmental delay, seizures, increased muscle tone (dystonia), lack of coordination, problems with feeding, and an inability to move the eyes vertically. People with this disorder can survive into adulthood. The incidence of Niemann-Pick disease, type C is estimated to be 1 in 150,000 people. The disease occurs more frequently in people of French-Acadian descent in Nova Scotia.
Mutations in either the NPC1 or NPC2 gene cause Niemann-Pick disease, type C. The NPC1 gene produces a protein that is located in membranes inside the cell and is involved in the movement of cholesterol and lipids within cells. A deficiency of this protein leads to the abnormal build up of lipids and cholesterol within cell membranes.
The molecular basis for this disease is extremely complex due to the role that endosome formation has on affected patients. Recently, three theories have attempted to explain the buildup of cholesterol in the lysosomes of affected patients of Niemann-Pick Disease Type C due to the malfunction of the protein NPC-1.
* The contention by Neufel et al is that the buildup of mannose 6-phosphate receptors (MPRs) in the late endosome suggests that the retrograde breakdown of cholesterol via the Trans Golgi Network cannot occur.[1]
* Another theory suggests that the blockage of retrograde cholesterol breakdown in the late endosome is due to decreased membrane elasticity and thus the return vesicles of cholesterol to the Trans Golgi Network cannot bud and form.
The support of these theories has considerable evidence using mutant proteins in vitro to determine the buildup of cholesterol in the lysosomes. Researchers have also discovered that the NPC-1 protein may function as a pump of cholesterol.[2]
The overall effect of a malfunction in NPC-1 is that low levels or an absence of the protein lead to the abnormal accumulation of lipids and cholesterol in the cells of people with this condition.
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