All Blog Posts (32)
Happy Birthday Aaditya!
Added by duriya on February 14, 2012 at 8:12pm — No Comments
Rose Cookies and Kal Kal Sale
It has been a year and four months since Aaditya left us to be with our Lord, but he continues to spread his laughter and his cheer. We at Hope for Aaditya are back to uphold our commitment of touching lives through our Christmas fundraiser, with the sale of Rose Cookies and Kal Kals. For purchase or volunteering in Bangalore India please contact Tasneem Sara 9845298915. Merry Christmas and lots of Love!
Added by duriya on December 13, 2011 at 7:46pm — No Comments
The Niemann Pick Disease Challenge
Please help us with the 11-11-11 Niemann Pick Disease Challenge by writing a check for $11 to The Niemann Pick Disease Foundation!! You can mail it to me at 414 Redding Rd, Seymour Indiana 47274 USA or to them directly.
www.nnpdf.org
-Make a difference…
ContinueAdded by duriya on October 30, 2011 at 5:30pm — No Comments
Sawsan Moubarak
Added by duriya on October 13, 2011 at 10:11pm — No Comments
This I Believe
This I Believe,
I believe in Aaditya Michael Dasgupta’s Unforgettable Smile.
How it lit up my sister’s life and healed her aching heart when he was born, just a few months after our mother’s passing. How it shined in his dad’s proud eyes as he sang, John Denver’s “Country Roads Take me Home”. I Believe in his smile that caught his older sister’s mischief and turned into frowns when his parents displined her. I believe in that smile that was his Grandparents joy and his Aunts’…
Added by duriya on August 27, 2011 at 7:39pm — No Comments
Aaditya's Blog
Added by duriya on September 3, 2010 at 4:57pm — No Comments
my heart and thoughts are with you
I have followed the life of the beautiful boy Aaditya since we met a couple of years ago. I had hoped that a miracle would occur and help would be found. I am saddened by your news but uplifted by your wonderful
faith in his peaceful, painless afterlife and in the joy and love he brought to you, your family, and your friends.
Love,
Lillian
Added by Lillian Gleiberman on August 28, 2010 at 6:51pm — No Comments
heartfelt condolences
no words can express the sadness that you are feeling now . It is our sincere prayer that our Lord will comfort you as Aaditya rests in peace forever with Jesus.
Alan, veronica , aaron and chelsea
Added by alan stevens on August 19, 2010 at 10:58am — No Comments
Aaditya Dasgupta
2001 – 2010
Aaditya Michael Dasgupta entered his heavenly abode on 12/08/10 . May his soul rest in peace with the Lord.
Funeral Mass at St. Thomas Church , Suranjan Das Road ( Off old airport road ) at 3:30 pm on Saturday the 14th , preceded by condolences from 3 pm. Intern at Kalpally Cemetery
at 5 pm.
Once…
Continue
An Essay by Parveen Monga
“Hope is the thing with feathers that perches in the soul, and sings the tune without the words, and never stops at all.”…
ContinueAdded by duriya on June 1, 2010 at 7:06pm — No Comments
Meet AARYA BHATKAR
NAME : Aarya Bhatkar and Family
BIRTH DATE : 4 MAY 2008
AGE : 20 MONTHS
PRESENT WEIGHT: 8.75 Kg
HEIGHT : 78
HEAD CIRCUMFERENCE :45.3
At birth: Normal and healthy baby boy. He started crawling at 6 months. Had repeated upper respiratory tract congestions. He received nebulization for this.
At 12 months, he could not walk. An USG was done. Ultrasound report dated 19/8/2009 : spleen enlarged and measures…
Added by duriya on May 28, 2010 at 7:50am — No Comments
Meet Zain Shaikh
Khalid Shaikh wrote:
Attached are the pictures of my son Zain and I had attached medical history which will also talk about the stories and history but still adding…
ContinueAdded by duriya on May 26, 2010 at 4:30am — No Comments
A discussion about Zavesca
A discussion about Zavesca
Duriya said: I tried reaching Actelion India, Australia and UK two years ago, only the price went up by $1000. It used to be $10,000 now it is $11,000, which is Rs.514,251, an exorbitant price as you noted, that an average family cannot afford for 90 capsules when an average monthly…
Added by duriya on May 21, 2010 at 6:22am — No Comments
Rare Disease Day 2010
LSD Support Society of India Celebrated it's first every Rare Disease Day in India-Good Job LSD Society!
To raise awareness about chronic, debilitating diseases, India’s first ‘Rare Disease Day’ was observed in Delhi on Sunday Feb 28 2010.
Organised by the Lysosomal Storage Disorders Support Society of India (LSDSSI), the day witnessed a unique gathering at Sir Ganga Ram Hospital here of over 90 patients from across India suffering from the rarest of rare…
Added by duriya on March 15, 2010 at 8:00am — No Comments
Happy Birthday Aaditya!!
Happy Birthday Aaditya!!! Wishing you a long, healthy and blessed life and May God make you whole again and make you a witness to His miracle. Love you tons.
Aaditya's siezures have stopped !
As you know our 8 ½ year old son Aaditya was diagnosed with Niemann Pick Type C -1; a rare and progressive cholesterol storage disorder two years ago. In the months that followed Aaditya gradually lost the ability to walk , then to stand, to speak and finally even to eat. He is now fed through a G tube into his stomach.
One of the most frightening symptoms of this disease are the terrible seizures that he got multiple times a day. My wife , our… Continue
Added by Ravi Dasgupta on September 28, 2009 at 2:32am — 1 Comment
Congratulations Aaditya!
Once in a Milion years
Comes an angel among us.
His presence brings sweet tears,
His soul touches our hearts,
And his kind and innocent eyes
Chases away all fears.
Only once in a million years does God create
One that brings us closer to Him,
And opens eternal heaven's gate.
I have been touched by such an angel
His presence brings such tears,
He is a gift… Continue
Added by duriya on September 12, 2009 at 6:30am — No Comments
India Day Booth-Aug 16th 2009
We are having a Fundraiser Booth at The India Day Celebration on Aug 16th 2009-Rock Financial Plaza, Novi, Michigan.
We will be selling Hope Caps, T-shirts, Sudha Pillai's photograph Collections, and well used Indian clothing.
I have posted several pictures of Aaditya with his loving close ones on the website. Aaditya's health has progressively declined inspite of all the efforts and experimental treatments. The constant seizures have caused… Continue
Added by duriya on July 18, 2009 at 9:00am — No Comments
Pay Forward
Added by duriya on March 1, 2009 at 4:01pm — No Comments
WHY CHARGE FOR EXPERIMENTAL TREATMENT?
Added by carl burdon on February 22, 2009 at 1:30am — 2 Comments
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About
Niemann-Pick Disease
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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