In rural places where sophisticated technology, medicine are scarce if not available, how do physicians like me deal with a baby with a life threatening medical condition — congenital adrenal hyperplasia?
In my place of practice, with about 250 thousand population as of the latest, there is 1 government tertiary (pediatric residency training) hospital and 3 private hospitals (but one pediatric residency training hospital) that could possibly admit cases such as CAH. We do not have pediatric endocrinologist, and the nearest one is in Manila. There are 3 adult endocrinologists though.
At time that we see babies with the above condition, our training as neonatologist is our first armamentarium especially when our babies are in crisis/es, then a proper communication with our pediatric endocrinologists in Manila for further evaluation and management. It would be best if our patients have all the resources to have all necessary tests done, the medications bought. Unfortunately, not all Filipinos are in the same social stratum.
A baby who is already a month old came to my office for second opinion. Baby has ambiguous genitalia, small for age and showed wrinkling of the skin (sign of failure to thrive), with a serum electrolyte test result (done weeks ago) and a confirmatory result for congenital adrenal hyperplasia. Mother wanted to know what are her options, and if this condition can be reversed. (It is so hard to tell a very definitive answer for these type of questions as sometimes, patients tend to misquote you when they go to another doctor if they are unsatisfied with your answers, or answer them satisfactorily but those weren’t the answers they were wanting to hear.)
One of the problem of congenital adrenal hyperplasia, aside from low circulating cortisol in the body system, is the loss of sodium. (They usually go together). If the sodium goes below critical level, it can trigger seizures that cannot be controlled by anti-epileptic drugs, until the sodium deficit has been corrected. This was my immediate concern. So I had to check first the sodium level of the baby and true enough, it was very low, near the critical level for seizures.
So what will a “probinsiyano” or rural physician do in this scenario? The best and ideal approach was to admit the baby and do necessary correction of the sodium deficit. But the mother refuses. Even if I strongly disagree with the mother bringing the baby home, I cannot force her. Thus, I had to be resourceful and creative on how to treat baby at home.
With regards the sodium deficit, this is usually computed (based on a formula that we, especially neonatologists should bear in mind). Next, derive the maintenance dose of sodium in 24 hours, which is often between 2 to 4 mEqs/kg/day. (If you are dealing with a baby who has deficit, then better use the maximum, which is 4mEqs/kg). Sodium correction however should not be done rapidly, it should be done in 48 hours, at a steady rate (and hence the requisite for a hospital admission).
I was able to compute baby’s sodium deficit and maintenance. Baby is on formula feeding to begin with. I asked the mother what is the average milk consumption for a day and that is where I based my computation. I was able to derive how much sodium is provided by the milk to the baby and it is just the same as the maintenance requirement. So now, my problem is how to deliver/administer the deficit.
There are sodium tablets that could be divided into papertabs and then you can incorporate that to the milk intake of the baby. (Of course, the taste of the milk will be altered — and that might again cause refusal of baby to feed, but then there’s no other way that I can administer the medication as mother refuses baby’s hospitalization). Unfortunately, there are no sodium tablets available locally. So the next alternative for me is to use the ampules or vials of NaCl solution available in the pharmacy (2.5mEqs/mL). With my computation, I got how many mL of the solution is needed per day, divide it into number of feedings per day. After 48 hours, I asked the mother to have the serum electrolyte repeated. Lo and behold, it went normal… So am I done with the baby’s problem? No… because the salt-losing part of the disorder is permanent, unless corrected by medications… which they cant afford yet as of the moment.
I had to maintain the baby on the available steroid and continue the sodium supplementation until the day when parents are able to save for the expenses baby will incur. A month has passed by already, and the baby’s sodium level has been maintained within acceptable level, and baby has been gaining weight as well. Mom checks baby’s sodium on a weekly basis… for now.. I really wish they will be able to raise funds for this…
(Disclaimer: this method of correcting sodium deficit has not been documented by a randomized controlled trial. But for now, it is the only available option I had for this patient. I credit my mentor Dr. Emilio A. Hernandez for teaching me this technique while I was under his tutelage as a neonatology fellow).