Letter from Nabiha
Aug 29, 2008-Helpful Hints
Dearest Tasneem and Duriya
My heart is breaking for Aaditya and for all of you, who are his family....it seems that Aaditya has entered into another domain in terms of progression of his disease which altogether requires a change in care giving and some very important decisions to be taken which in Hisan's case I was late, and that was how I think he suffered more...what I will be suggesting you need is to be rechecked in by a doc who knows NPC (However there are no doctors in India that are experts on NPC)
His cough is because of these reasons
· Underlying lungs or upper respiratory track infection that may not be healed through standard antibiotics but culture based meds will tackle the bug that is causing the infection…have his saliva and blood cultures done.
· Reflex of his food- it takes longer for him to put it down his throat and instigates cough, that means he is not only aspirating his food but also refluxing it back to his respiratory channel…..this is the standard symptom of NPC kids when their disease progresses..Hisan had it when he was two and a half year ago…aaditya needs an x-ray test called barium swallow test that requires food to be given to him and then filming it in an x-ray room which tells the doc what is happening to the food when it is in his mouth..is he able to chew, swallow and where the food is going....in NPC kids half of it goes into his stomach and the other half refluxes back into the lungs which triggers cough and infections..this also leads to aspirational pneumonias that is infact the type of pneumonia that happens to NPC kids
· Lack of oxygen in his lungs or body…this happens when the respiratory muscles of the NPC kids get weak because of brain involvement which in this case has probably started to happen to Aaditya as his seizures are manifesting…they take in less oxygen and release not all of the carbon dioxide..resulting in low oxygen saturation in him..he then has to be monitored and if such is the case then oxygen input is required for him to maintain his stats.
Equipments that you require now in your house
· Nebulization machine is a must.. you must have read hundreds of e-mails on the NNPD list serve regarding clearing of secretions and mucus either through nebulizing meds or simple saline and for that regime you require this machine…very easily available and not expensive. With the passage of time you would be able to know when to use it..the meds that are put in the machine help to break up the mucus, soften and liquidify the mucus and then a dose of chest therapy followed by suction machine...bingo!the chest is clear for the next many hours..he will breathe better and no coughing or infections
· Portable Pulse-oximeter machine to monitor his pulse and oxygen sats, once or twice in a day that will tell you his stats..his pulse should be within 85-110 and his oxy stats not less than 95% at this stage ...easily available and not expensive..look for a reliable brand
· Physio therapy many times a day -since he has started to cough…there is an ambu bag for rescitation, with comes a mask, a round plastic thing with hole in between…it creates vacuum when slightly hit on your back on the lung area…put a three cc syringe in that hole, grap the mask in your hand in a way that the syringe is between your first and second finger and give aaditya repercussions through it…it's the best chest therapy that you can give him – plus it is soft and better than given by hand which is hard on the child…
· Suction machine…consider his machine a life saver for him…..give him nebulization…after that chest therapy and after 10-15 mins, suction machine…learn how to use it otherwise you will injure his mouth…once you buy it, talk to me and I will explain it's use to you...I consider myself an expert in it…easily available and not expensive
· Peds hospital bed even with a manual headset pully…please when you give him food, pull his headset up and after 45 min, you can readjust it..remember he is aspirating and refluxing that is why he is coughing…second hand beds are easily available with med manufacturing firms or suppliers..if you think that aaditya is sitting ok..you can delay the buying but still i believe he will be better off on that bed for resting and eating
moreover look for the signs that cause seizures, sunlight, noise..always keep a diazepam/valium injectable in your home or purse so that if he may have it for a particular long time (check the time duration with the doc) and if you are far from medical/emergency help you can give the solution via his rectum to break the cycle of it...
less amount of food needs to be given to him reducing the intervals...e.g we may eat three times a day but just to give you an example, i was giving hisan 4 ounces every two hours...he would be relaxed, would not reflux nor aspirate....
Crucial decision that you need to make now!!!!
If his barium swallow test shows that it is getting risky to give him food through mouth as he is coughing, think at once on the lines of placing a G-Tube in his stomach as long as his lungs are ok..if his lungs got bad then this procedure becomes difficult without the option of general anesthesia...search it on the web and you will get the whole idea....i have not seen a single NPC kid with out it....a mic-key button is required...whether you have the procedure soon or not..if duriya is coming to you she should bring the stock for you as it is not available here...i got the silicon NG Tubes from australia as i could not get them from USA or here..they are beautiful and long lasting and easy on child but aaditya may be having G-Tube inserted rather than the NG...
if you think he needs it which i believe in the next few months it would turn out to be a must for him....i am also an expert on the food to be given through it...i gave hisan food for three years on NG tube and would you believe that not for one day he had a bad stomach and the food was all home made and not a single market formula...this is one thing i am proud of....so i will help you in that dont worry
I hope i have not missed out anything important....prepare yourself mentally and technically for everything that may come your way sooner or later...i know we have the faith that on the other hand God would be kind to us...
NPC takes everything out from us..its like we are a general of an army and yet we are fighting a bloody war without an army..its us who have to strategize and us only to fight too
all my love to you
Last updated by duriya Feb 24.
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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