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