My daughter Nanki Singh was diagnosed with Propionic Acedemia i.e. where in a kid is not able digest Protein. First of all I was lucky enough that I was staying in Delhi and my child problem was diagnosed in very early stage. But I know so many people who were not able to diagnose the child illness, which if detected can save the child's life. Hence, there is no awareness of Genetic Disorders to doctors as well. We have handful on these doctors which available only in metro cities. As this is genetic disorder no medicines can cure this disease, it's just that we have to very careful on out kid's diet. But there is no dietitian available who can guide us what exactly has to be given to these special kids. And if some doctor has advised to give special milk (propimex) then we don't have these diets available in India. We used to get the milk cans exported from US or other places which was way too expensive. And sometime it was not available as well. In such scenario we used to be clueless what needs to be done. And due to lack of diet & dietitian, I lost my kid and I am sure many others too. Last but not the least if we can make the new born screening as a compulsory test for all the new born. This will help us to diagnose the disease at its early stage & we can save the life and can provide a better future to that kid. If we can build up a strong team of doctors, dietitian and diet availability in India, I am sure we would be able to save many lives of these young ones; who have all the rights to have a healthy life.
Our daughter was diagnosed with Methylmalonic Acidemia (MMA) when she was one and a half months old. After an episode of metabolic acidosis, her blood bicarbonate levels had reduced to dangerous levels and the situation had become life threatening. Fortunately, the condition was diagnosed in time and the treatment started immediately. Had new born screening been in place, her management could have been started right at the time of birth and much of the pain and agony she had to go through as a baby could have been avoided. Our daughter is 6.5 years now and is doing well. She goes to school and is currently in Class I. Regular medical follow-up and dietary management are the mainstays of her treatment. Because IEM children have stringent restrictions on regular food, they have to be given specialized diet, free from the offending ingredients. This diet therefore becomes the most critical intake during the day to provide minimum required nutrition, especially during episodes of illness\metabolic acidosis. Diet for our daughter is not easily available in India. Many times, due to a lack of continuity in supply, we have had to manage without the diet, leading to stress, anxiety for us and lack of minimum required nutrition for our daughter. Ease of availability of diet in India at reasonable cost, by leading international manufacturers, will go a long way in saving children’s lives, improving their quality of life and reducing stressful situations for parents.
My name is Gajanan Udar working as a Primary Teacher in Nashik district. I had female child who died in 6 days, ( Oct 2010). Later on I come to know she has metabolic disorder. We discuss various doctors in Nashik and Dhule but they gave us green signal to take chance. We have male child in Nov.2012. As we are afraid of history we did New Born Screening of Devashish. It clears that our child has same disorder. Later on we took Devashish in K.E.M. Hospital Mumbai for 1 month. Doctors of K.E.M. ( Dr. Mamta Muranjan) diagnosed devashishas Methyl Melonic Acidemia. Till now we are trating him at Vashi Dr. Anil Jalan's Clinic. Importance of diet Our baby needs special formulated diet for survival. To maintain Protein cycle its very necessary. Unavialibility of Diet Unfortunately this special diet is not produce in India. So we have purchase it form U.S.A or Germany. 1) We live 60 km from Nashik.Thre is no courier and internate service. Its very hard for us topurchase powder from abroad. 2) Oca-A from Germany or Propimex I from U.S.A. are diets we need for our baby. But its so costly almost 20,000 per 1 tin. We can not afford it. 3) Custom problem is also a major problem getting consinment in time. Appeal: I appeal Indian Govt. should look into the matter. Don't our children has right to live? Please help us availing diet for our children. Our childrens life is precious.
Difficulty in diagnoses: In India we do not have test to detect in born error like they have in western countries. My 1st child was born on the 22nd March 2013 in Sitaram Bartia Hospital. It was a normal delivery and the mother and baby were both fine after the delivery. After 4-5 days of birth he started crying and stopped having milk. We took him to the hospital again and they did not detect anything. They checked for infection but didnt find anything. After 3 days we got a discharge and again after going back on mothers milk he was in the same situation as earlier. Then we took him to Max hospital in Saket and there too the doctors did find anything. The baby's condition was detorating as they were giving mothers milk through NG tube. After 15 days of life my 1st child passed away. And later after 10 days we got a report from the hospital that the child had an in born error called MSUD "Maple syrup urine disease). In the next child we were advised to get a test done straight after birth. We did so and again my second child has MSUD. There is very less awareness for prenatal testing in India. I live in the capital and still there are very few resources available to advise on in born errors.
Hurdles for Managing the child: Now after birth of my 2nd child on 3rd Oct 2014 we were asked to arrange the special diet for MSUD which is not available in India. I looked in almost all the chemist's in Delhi and not a single one had stock of this special diet. This is because this is not available in India and the government feels that these sort of diseases do not exist in India. Finally we got hold of a can for MSUD diet from Gangaram Hospital and they too charged us a higher amount due to customs and unavailability of diet in India. The doctors too loose the hope as it is a life threatening disease and child do die if they are not treated properly. After a lot of research and support from friends and family abroad we managed to get the diet imported from US. But again we faced issues at customs as they wanted to know if the product is for personal use or commercial and also why do we need this. The cost for Ketonex 1 one is approx 40,000 rupees including delivery costs from US and for Ketonex 2 it is approx 70, 000 rupees for 12 canes including delivery. Along with arranging the diet we also have to get regular blood test to monitor the levels of leucine. The test is available in Mumbai and Bangalore. It costs 5000 rupees per test and he have to get this done at least twice a month. I believe that it is extremely difficult to manage an in born error disease in India. Firstly due to non availability of diet and secondly the insufficient knowledge on the management of there diseases. My son is 1 and half year now but he is severely behind on mental growth and physical growth. He does not sit or stand and also its very difficult to feed him.
Difficulty in diagnoses:After birth of my child on 5th December 2015, we got to know that he had got Proponic acidiemi on 8th Dec from local lab (Bangalore), to confirm that they sent sample to Mumbai it took 7 to 10 days....during this time nobody knows what to do :( . My son was not gaining weight for that they were doing experiment by adding one one medicine without knowing that what will be the results. My son was there in ICU for 1 full month but no improvement, It was very difficult to coordinate with Doctor because they did not know about this.As per doctors This was new diagnosis case for them(Bangalore) so they were following from mumbai expert and because he was not from Bangalore so most of times he was not able to suggest.
doctors suggested to feed Special diet Propimex and Propfree that we somehow managed to get those special formula from US and spent around 30K for just 2 cans of formula including Cost of formula, Courier charge from US to India and Custom charges. And we never thought of that the feed would be only of these two formulas in mix and we were asked to get it again within next 7 days.
Hurdles in managing childMy son was in ICU from the time he was born till 2 months. During this time we tried our best but there was no any improvements in his health. Doctors were afraid of the disease can cause other organs and/or his brain in that the case the situation would be beyond our hand. Even after we tried our best, was feeding the special diet after 2 months of time his all organs affected and we decided to take him home and lost him while on the way. in summary lack of experience to treatment diet is costly and most of time not available dietitian/nutritionists was not there few live saving medicine are not available
Difficulty of Diagnosis Our first child Rishabh was born in KIMS Hospital, Thiruvananthapuram, Kerala, India on Oct-12th, 2011. Used to cry a lot and sleep patterns were very erratic after day 4. Went into Coma on Day 7 after we took him back to KIMS Hospital. Dr.Naveen Jain(Neonatologist) sent dried blood spots for screening to Neogen labs in Bangalore after all other possibilities were ruled out. Test came out positive for Maple Syrup Urine Disease(MSUD) after TMS was done. Later on blood samples were also dent to Sandor Labs in Hyderabad for MSUD profiling. This was a small hurdle as every now and then Demand Drafts had to be made and then sent by courier along with the blood samples to Hyderabad/ Bangalore. It took a minimum of 4 to 5 days for us to get the result for a particular blood sample. It was disappointing for us to now that our state Kerala which has the lowest infant mortality rate in the Country(around 12 per 1000 live births) doesn't have infrastructure for diagnosis of IEMs.
Hurdles in managing our child The biggest hurdle we faced was getting the special formula once he tested positive for MSUD. Dr.Naveen was frantically using all his contacts and we also actively searched for getting the formula. Ordering it from abroad was not an option due to the time involved in shipping it to India. Thankfully we were able to get two cans from AIIMS, India which were left over after a child with IEM passed away in New Delhi. We also purchased two cans from Dr.Anil Jalan at an exhorbitant sum of Rs 18,000. Dr.Anil Jalan told us about the customs duty he had to pay as this was considered as baby food by our customs department. Dr.Naveen Jain confessed his inexperience with treating IEMs and told us that other supplements like Isoleucine and Valine sachets are also required for the management of MSUD. It was indeed a tall order for people like us from a middle class family. We took Rishabh back home after 30 days in the hospital as he was badly affected by encephalopathy. On day 34 we again took him back to the hospital as we couldn't stand to watch him suffer due to the brain swelling. His eyes were also starting to bulge out. On day 35 he passed away at KIMS.
I have attached a photograph of Rishabh immediately after he was born( I wouldn't really like anybody to see his helpless photos after he got sick) and also a photograph of our second child Aakarsh who is thriving here in Muscat, Oman as he is getting all the necessary support required for a child with MSUD.
Child Born with Urea Cycle Disorder ASL deficiency
Child Under care of Doctor: Dr H A Venkatesh, Manipal Hospital
Very difficult to diagnose. Fortunately for us, baby born in Manipal Hospital Bangalore where this was detected on 4th Day. Samples were sent to Hyderabad lab where TMS results came. Blotting paper sent to US further tests.
ASK: Labs equipped to detect these cases in India with reasonable cost
1. Find difficult to get the required special food in India. The one outside India is very costly. Difficulty in getting the special food from outside India
What is required: Availability of special diet within India at reasonable cost
2. The special food has very bad taste and generally rejected by baby Good to have: Good taste for special diet
1. Sodium Benzoate and Arginine is given to flush the ammonia from system. These two also flush many vital minerals etc. from body. Hence the child needs to be given Vitamin and other supplements like Tender Coconut Water (for Potassium). Only few prominent pharmacies keep these two medicines
What is required: Ready availability of Sodium Benzoate and Arginine across pharmacies
Suggestion: Sensitize doctors managing the kids about necessity of supplements and importance of maintaining Electrolytes balance

2. Giving lots of water is very essential to child. Don't know how this benefits medically but have observed this works very well for child Suggestion: Inform doctors managing UCD about the necessity of giving lots of water
3. Sodium Benzoate and Arginine needs to be given based on the weight. We use weighing machine and calculate the dose at home. The dose usually in milligram
What is required: Availability of accurate measuring scale which can measure milligrams accurately
1. Ammonia testing: Unavailability of good labs where Ammonia can be tested. Facility unavailable in small cities and towns which restricts our travel to native place
What is required: All hospitals (government / private) in cities and towns should be able to do reliable Ammonia test at reasonable cost
2. Certain tests done only by Dr Anil Jalan Mumbai. Difficult to send Blood & Urine Samples from Bangalore to Mumbai ( Only one courier carries blood samples, General resistance by Courier to carry blood and Urine Sample, High cost of Courier)
What is required: Should be able to get the Special UCD test (Ones done by Dr Jalan) done in all cities at reasonable cost Optional: More couriers to carry blood and Urine samples at reasonable cost
3. When baby was small, if frequent blood samples are taken, it used to bring down Hemoglobin. Sometimes the blood sample turns curdlish. Need experts to take blood samples.
What is required: Sensitize the doctors and staff taking blood sample about Hemoglobin and sample turning curdlish. They should take good care to extract blood in one prick and take all care that sample is usable for Ammonia tests
4. Generally nurses, support staff not aware of UCD and protein restrictions in diet. Support staff may get some food that child can't take
What is required: Hospitals should make doctors, nurses and support staff aware about the UCD and basic management and protein restrictions.
5. Generally within Doctors community, very few have managed UCD cases though every doctor knows about UCD. Child like any other normal kid can get any minor ailment like cough, cold etc. but many times doctors specially juniors in enthusiasm to manage UCD, list every episode as UCD. This gives completely different spin to discharge summary. Wrong discharge report leads to insurance company rejecting genuine claim.
What is required: Explain doctors that not all ailments are UCD so that correct summary can come out
6. Want to quote one instance - Medically child was stable and usual tests showed ammonia under control. Doctors felt that we can take baby home. My wife felt child is not Ok and asked to check further. Doctor did electrolyte test and there was imbalance with Potassium being 1.8 which was treated.
What is required: Doctors should hear out parents and consider their view while managing UCD case. We are thankful that this happens for us
7. Muscle: When baby is small, it was recommended by doctors to go for physiotherapy.
Experience: Muscle strength will grow gradually. Strength goes down if ammonia level increases
Suggestion: When baby is small, don't go for physiotherapy. Baby will gradually gain strength and walk. Physiotherapy not required when baby is small

What is required: Insurance companies should cover the claims for UCD
Patient Name: Shubham Tibrewal, Gender:Male DOB:25.10.2009
Father Name:Shyam Bihari Tibrewal
Residence: Madhupur, Dist:Deoghar,State:Jharkhand
1.Difficulty of Diagnosis
Since the age of 20days baby was suffering vomitting and diarheoa and was hospitalised various times to rule out the cause of given symptoms.During these course of treatment various test and biopsy were done vigorously several times which was very painful and done like experimenting.Finally diagnosis was made as on 19.09.2011 from abroad.The disease was come out as Hereditary Fructrose intolerence (HFI) Which occur in every one patient out of 40,000. So there is great crisis in Genetic test Diagnosis,treatment and counciling in India.
2.Hurdles in Managing the child
I have visited so many multispeciality Hospital in India like SirGangaram, Indraprasth Appolo ,Medanta Etc but none of them can prescribe a proper diet chart for hfi patient.Few chart or input I came through searching differnet websites like Boston University Hfi Group.But I am not getting the food stuff and medicine in India which is fit for HFI patients.