Meet Aaditya
Miracle Boy Receives Historic Intracranial Stem Cell Transplant A 7
Year Old Boy’s Fight against Niemann-Pick Type C Disease In
2007,Aaditya Ravi Dasgupta’s family received devastating news. The
kind of news no family ever wants to hear. They learned that their
6 year old son, Aaditya, was diagnosed with a very rare and fatal
disease called Niemann-Pick Type C (NPC) that afflicts
approximately 500 children, teens or adults worldwide. Niemann Pick
Type C is a genetic lipid storage disease, in which harmful amounts
of a fatty substances and cholesterol (called lipids) accumulate in
the spleen, liver, lungs, bone marrow, and brain. As a result, NPC
causes progressive neurological deterioration with symptoms
including dementia, seizures, and cataplexy (uncontrollable falling
from laughter that can result in serious injury). Aaditya is in a
major battle for his life as walking, talking, eating, and even
remembering how to say “Ma” or “Papa” has become almost impossible.
Aaditya’s Life a Year Ago Last year at this time, Aaditya’s day
began with a sleepy smile on his cute little face and his endearing
voice calling out for “Mom.” One of his favorite pastimes was
watching television and flipping the channels to find shows such as
SpongeBob SquarePants, Barney, Dora and Go Diego Go. Mom received
lot of hugs and kisses as Sumati Aunty, family friend and
housekeeper, gave Aaditya his Ayurvedic medicine with honey while
they prayed together. Aaditya enjoyed going to school with Sumati
Aunty right by his side to make sure his sense of humor and
laughter did not cause him to lose complete muscle power, crumble
to the floor and severely injure himself. A physical therapist came
to the house every night at 8:00pm and helped Aaditya with rigorous
exercise. Aaditya always went to Mom for hugs, kisses and silent
reassurances that no matter how hard the exercises, That God would
make a way with every step. Aaditya’s Life Before Surgery Aaditya
is no longer able to say “Ma” or “Papa,” however he still gives
everyone his sweet smiles. His little fingers can’t change the
channels on the remote anymore, nor is he able to move his mouth to
give his Mom kisses – now just a simple touch of his lips to her
cheeks and a stroke of his hand to her face make her smile. Aaditya
is no longer able to walk or go to school but he enjoys Sumati
Aunty’s company during the day when everyone is out of the house.
His sense of humor remains intact and alive and he seems to
understand jokes even grown-ups would have a hard time
understanding. He also loves music and listening to his older
sister play guitar or the family favorite Beatles CD. Cutting Edge
Stem Cell Treatment Even at a young age, Aaditya has been very
close to God. He folds his tiny hands and prays before every meal,
also at bedtime. It’s hard to understand why God has endowed him
with an affliction that has no cure. Maybe God tests those who are
closest to him? We believe that He wants us to join hands together
and find a cure for NPC afflicted children around the world. In a
quest to find a cure for Aaditya, the family has been meeting with
numerous doctors throughout India and the US. Their search began
with Dr Marc Patterson, Pediatric Neurologist who is now at Mayo
Clinic, Rochester, Minnesota to Dr. Srinivasan from Jeevan Stem
Cell Bank in Chennai who introduced the family to Dr. S Suresh, a
renowned ultrasonologist and Director of Mediscan Systems. From
there, they met with Dr. Sujatha, a genecist at Mediscan, a centre
that specialized in prenatal screening and testing. Dr. Sujatha has
taken on the tasks of treating rare diseases in fetal stages and
hopes one day to be able to cure rare genetic disease like NPC
during infancy. Today, Dr. Suresh and Dr. Sujatha have established
a free diagnostic clinic for Niemann-Pick Type A and Niemann-Pick
Type B diseases and with the help of the Hope for Aaditya and the
family they will be able to open a free diagnostic clinic for
Niemann-Pick type C, the first such center in India. The family had
been dreaming of an intracranial stem cell transplant for Aaditya
with mysenchymal stem cells. There is research going on in the
world of science but Aaditya received a cutting edge treatment
right here in India in which a stereotactic implantation of stem
cells was performed on his brain. The hope is these cells will
graft into new brain neurons and restore function for Aaditya and
save his life. Dr Venkatramana, a renowned Neurosurgeon at BGS
Global teamed together with Dr Vijay Sharma of the Stempeutics
department at Manipal Hospital to conduct this procedure after
appropriate approvals from the Indian Government and the Ethics
committee at BGS Global. Intracranial stem cells transplants
treatment that Aaditya received is not even available in the United
States. Stem cells were put directly through his skull, into his
brain and past the blood brain barrier. Most stem cells injections
people get in China or Mexico go through the neck/vertebra or
through IV infusions. In 2005, a similar procedure made
international headlines when the FDA approved six children with
Batten disease to receive intracranial neural stem cells in the
United States. The results from this procedure still have not been
released by StemCells Inc. of Palo Alto, California. Unlike the
children with Batten disease, Aaditya received a different type of
stem cell - mesenchymal stem cells derived from human bone marrow
(not embryos). The good news is that all stem cells are not alike
so the hope is that these stem cells will transdifferentiate and
turn into brain neurons. While this procedure is considered a long
shot and radical, there is a glimmer of hope that mesenchymal stem
cells could restore function to Aaditya and save his life. Some of
the hair on Aaditya’s head was removed and the mesenchymal stem
cells were injected with a special 3 prong needle into eight areas
of his brain through two, three inch cuts. His amazing mother
Tasneem says they are at peace and that, "He who has brought
Aaditya so low will take him high." This family’s faith is
inspiring to say the least and they are asking the world to send
them prayers for a successful recovery and wish everyone “A Merry
Christmas and a Happy, Healthy and Prosperous New Year! Finding a
treatment for Niemann Pick Type C will provide hope not only to
Aaditya Ravi Dasgupta and Tasneem Tankiwala in India but to many
others like Addi and Cassi Hempel, Gabrielle Laverde and Peyton and
Kayla Hadley in US, Husein Taher in Tanzania, South Africa, Roy
Green in UK and so many more kids, teens and adults all over the
world and in India that have not been diagnosed yet due to the cost
and complexity of the diagnostic process. You can leave a wish for
Aaditya (http://addiandcassi.com/guestbook)
or for more information go to: www.HopeforAaditya.org or
contact Tasneem Dasgupta (Aaditya’s Mom) at
tasneem@saracreations.com Cell number 9845298915 or Duriya
(Aaditya’s Aunt) at dlakdawala@gmail.com
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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