Observations
20th Dec. 2008 : 48 hrs after surgery Mom found Aaditya trying to talk ; trying to mouth words. When Mom was mouthing “I love you” to him from a distance he was looking straight into her eyes and opening his mouth as if to say the same. The same night when his cousin was asking him to go to sleep , he was having a bad cough and Mom was telling him to ask Rizu, “how could he sleep with that cough ?” , he looked at her and tried to say “how ?”. he has also been nodding to say yes or no. His eye contact is better than it was before.
21st Dec. 2008. : 24 hours later he was turning over to his side comfortably. This morning during his sponge bath he turned over from his back to his front easily and with very little assistance. Mom found the stiffness in his body much reduced as compared to before this procedure.
22nd Dec. 2008 : Today we have given Aaditya apple juice. His cough is still not under control, perhaps because he had to have a break in his Antibiotic before the surgery. I find his right hand thumb which always used to fold inward into a fist is remaining open when brought out. Today he is getting discharged and Dr. Venkataramana says they will hand over to Dr. Karthik from here on. He said they have inserted lots of cells ( 40 million ) ; more than they normally insert . they used a special needle which has 4 outlets. This was done in 8 areas of the brain and also the ventricle. Last night after many days he laughed his gurgle laugh at cousin Rizu’s antics.
24th Dec. 2008 : Last night Aadi kept lifting his right hand ( which he has seldom been using ) all the way up straight. He is looking much better. Suresh has resumed his physioyherapy yesterday. Anita , Farru and family left today and though they did not say bye he knew all along and even shed a few tears.
25th Dec. 2008 : yesterday evening Aaditya kept getting small jerks, no full fledged seizures though. When we were giving him a hot water bath in the evening he felt good and was straightening out his body. He was holding the bar and almost standing on his own. Mom was only supporting him at his waist. After his bath, Mom massaged the ayurveda oil and the physiotherapist, Suresh came and made him do his exercise. He slept well and looked comfortable
26th Dec. 2008 : Aaditya has eaten Chicken Biriyani for lunch . He passed a motion without using a suppository. He is only on Augmentin DDS, Setzine, and Jr. Lanzol. He had fried rice for lunch today.
27th Dec. 2008 : Yesterday his stitches were removed. The Doctors were happy with the healing and have asked us to keep the dressing for another 3 days and said he could have a head bath after another week.
28th Dec. 2008 : Aaditya can sit erect on the floor when his legs are folded for him. He is also able to stand erect with his feet flat on the ground ( not on his toes ). He is able to lift his head and can focus on people who are speaking to him far better than before his procedure. He is still coughing , especially while eating and drinking. We hope to build up his health by feeding him and with the Physiotherapist and Occupational therapist help build back his lost muscles and strength.
29th Dec 2008 : His cough and aspiration remains a concern.
30th Dec 2008 : Today Aadi sat up erect. His back was straight and his head help well up without drooping. Suresh ( Physiotherapist ) was very happy with his progress. While doing physiotherapy he put him on his stomach and asked him to lift his head up ; which he did well lifting his whole torso. Suresh said he noticed definite improvement.
31st Dec. 2008 : Today Aadi has eaten a whole small dairy milk chocolate. Aashna says he as got back to being moody. Sometimes in a good mood and sometimes he is crabby but I think that also has to do with how he is feeling on a particular day. He is expressing himself through sounds. He gets upset when he sees us get ready and go out.
1st Jan 2009 : Today he had his gems ( smarties ). Sumathi fed him Dhal and rice instead of Kichadi.
2nd Jan 2009 : Today Bangalore mirror has featured Aadi's story and breakthrough stem cell surgery in NPC. We also noticed that Aadi’s grip while holding your hand is much tighter. Today he has been constantly lifting his right hand to the plaster on his head and I told him that when his Dadi ( Grandma ) would get back she would remove it for him. As soon as Dadi returned and said Hi to Aadi he pointed to the plaster on his head as if to say ‘ remove it !’.
3rd Jan 2009 : Today Hindustan Times has featured Aadi’s story on the front page of all editions. Srikanth the journalist called to say that he is receiving messages from all over : from parents with kids with different diseases asking for the doctor’s contacts. Aadi seems a lot more alert mentally. When Ravi asked me this morning if he should put on the TV for Aadi who woke up early he grunted hmm ( yes) before I could respond.
4th Jan 2009 : This morning Aadi ate well even without Sumathi aunty. He has not been sleeping well the last 2 nights : hope that settles down. Aadi is looking healthier but needs to put on some weight. He can stand well with support and today sat on the toilet seat without any support.
5th Jan 2009: Aaditya trip to his pediatrician revealed a shrinkage in the size of his liver and spleen. He has not had a seizure since the one time in the hospital. Sumati Aunty said he folded his legs by himself today and sister Aashna says he is moving his arms and legs around more.
29th Jan 2009: Aaditya has had a rough few weeks in the hospital. He suffered from pneumonia and was severely dehydrated and under nourished because of aspiration. The family decided it was time for him to get a G-tube and an Arterial Port and moved from Manipal Hospital to BGS Global for the surgery.
With so much talk about Cyclodextrin, the family made a decision to have the doctors try it on Aaditya. We are going to fight NPC! A safe sugar compound, we hope it will help move the cholestrol out of his organs and body.
Today is the Day the doctors administer it! Please keep him in your prayers!
Thank you God! Please Keep his recovery going and may Aaditya be healed!
21st Dec. 2008. : 24 hours later he was turning over to his side comfortably. This morning during his sponge bath he turned over from his back to his front easily and with very little assistance. Mom found the stiffness in his body much reduced as compared to before this procedure.
22nd Dec. 2008 : Today we have given Aaditya apple juice. His cough is still not under control, perhaps because he had to have a break in his Antibiotic before the surgery. I find his right hand thumb which always used to fold inward into a fist is remaining open when brought out. Today he is getting discharged and Dr. Venkataramana says they will hand over to Dr. Karthik from here on. He said they have inserted lots of cells ( 40 million ) ; more than they normally insert . they used a special needle which has 4 outlets. This was done in 8 areas of the brain and also the ventricle. Last night after many days he laughed his gurgle laugh at cousin Rizu’s antics.
24th Dec. 2008 : Last night Aadi kept lifting his right hand ( which he has seldom been using ) all the way up straight. He is looking much better. Suresh has resumed his physioyherapy yesterday. Anita , Farru and family left today and though they did not say bye he knew all along and even shed a few tears.
25th Dec. 2008 : yesterday evening Aaditya kept getting small jerks, no full fledged seizures though. When we were giving him a hot water bath in the evening he felt good and was straightening out his body. He was holding the bar and almost standing on his own. Mom was only supporting him at his waist. After his bath, Mom massaged the ayurveda oil and the physiotherapist, Suresh came and made him do his exercise. He slept well and looked comfortable
26th Dec. 2008 : Aaditya has eaten Chicken Biriyani for lunch . He passed a motion without using a suppository. He is only on Augmentin DDS, Setzine, and Jr. Lanzol. He had fried rice for lunch today.
27th Dec. 2008 : Yesterday his stitches were removed. The Doctors were happy with the healing and have asked us to keep the dressing for another 3 days and said he could have a head bath after another week.
28th Dec. 2008 : Aaditya can sit erect on the floor when his legs are folded for him. He is also able to stand erect with his feet flat on the ground ( not on his toes ). He is able to lift his head and can focus on people who are speaking to him far better than before his procedure. He is still coughing , especially while eating and drinking. We hope to build up his health by feeding him and with the Physiotherapist and Occupational therapist help build back his lost muscles and strength.
29th Dec 2008 : His cough and aspiration remains a concern.
30th Dec 2008 : Today Aadi sat up erect. His back was straight and his head help well up without drooping. Suresh ( Physiotherapist ) was very happy with his progress. While doing physiotherapy he put him on his stomach and asked him to lift his head up ; which he did well lifting his whole torso. Suresh said he noticed definite improvement.
31st Dec. 2008 : Today Aadi has eaten a whole small dairy milk chocolate. Aashna says he as got back to being moody. Sometimes in a good mood and sometimes he is crabby but I think that also has to do with how he is feeling on a particular day. He is expressing himself through sounds. He gets upset when he sees us get ready and go out.
1st Jan 2009 : Today he had his gems ( smarties ). Sumathi fed him Dhal and rice instead of Kichadi.
2nd Jan 2009 : Today Bangalore mirror has featured Aadi's story and breakthrough stem cell surgery in NPC. We also noticed that Aadi’s grip while holding your hand is much tighter. Today he has been constantly lifting his right hand to the plaster on his head and I told him that when his Dadi ( Grandma ) would get back she would remove it for him. As soon as Dadi returned and said Hi to Aadi he pointed to the plaster on his head as if to say ‘ remove it !’.
3rd Jan 2009 : Today Hindustan Times has featured Aadi’s story on the front page of all editions. Srikanth the journalist called to say that he is receiving messages from all over : from parents with kids with different diseases asking for the doctor’s contacts. Aadi seems a lot more alert mentally. When Ravi asked me this morning if he should put on the TV for Aadi who woke up early he grunted hmm ( yes) before I could respond.
4th Jan 2009 : This morning Aadi ate well even without Sumathi aunty. He has not been sleeping well the last 2 nights : hope that settles down. Aadi is looking healthier but needs to put on some weight. He can stand well with support and today sat on the toilet seat without any support.
5th Jan 2009: Aaditya trip to his pediatrician revealed a shrinkage in the size of his liver and spleen. He has not had a seizure since the one time in the hospital. Sumati Aunty said he folded his legs by himself today and sister Aashna says he is moving his arms and legs around more.
29th Jan 2009: Aaditya has had a rough few weeks in the hospital. He suffered from pneumonia and was severely dehydrated and under nourished because of aspiration. The family decided it was time for him to get a G-tube and an Arterial Port and moved from Manipal Hospital to BGS Global for the surgery.
With so much talk about Cyclodextrin, the family made a decision to have the doctors try it on Aaditya. We are going to fight NPC! A safe sugar compound, we hope it will help move the cholestrol out of his organs and body.
Today is the Day the doctors administer it! Please keep him in your prayers!
Thank you God! Please Keep his recovery going and may Aaditya be healed!
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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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