Aaditya's Blog
Country Roads
Take me home
To the Place
That I Belong
Aaditya's favorite John Denver song that he stopped singing with his voice but not with his heart. Even at a very young age he knew his destination. His love for Jesus was strong and saw Him in a painting of boats when he entered our home for the first time. Aaditya's sense of humor was much beyond his age and understood even subtle jokes that would pass unnoticed by educated adults. He is the reason our faith in God is stronger today. "Thy will be done in all things." He came as an Angel in our lives making us realize the power of God even when nothing seems to go your way, helping us to be humble. Aaditya had the most beautiful smile that brought peace to anyone who looked at him and his touch that stroked his mom and papa's cheek comforting them and letting them know that it was going to be okay. They couldn't discipline his sister Aashna who he loved so dearly without it going unnoticed and even getting a disapproving look from Aaditya.
Dadi(Grandma) Aaditya knows how long and hard you have prayed for him and he is in a better place because of it. He will be missed by all those who loved him and knew him.
Once in a million years
Comes an Angel among us
His presence brings such sweet tears
His soul touches our hearts
And his kind and innocent eyes
Chases away all fears
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 to us from Sweet Jesus
And may he be blessed forever.
May Jesus lift him
To His throne of Grace and Mercy
May he be surrounded by Angels
May he feel no pain, no grief, no loneliness
May he walk the stairs of Heaven.
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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.
© 2013 Created by duriya.
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