As I entered the hospital room a dark cloud rolled in from Puget Sound obliterating the sunshine streaming through the window. The young couple had been anticipating the arrival of their baby with both the excitement and trepidation common to first-time parents. There was no forewarning of disaster. After twenty years the delivery of bad news was not any easier for me.
“Perfect,” I thought, “now the sun goes away.”
Mrs. Velasquez’ smooth milk chocolate countenance was framed by the mass of her black hair spread on the snowy pillowcase. Mr. Velasquez, short and stocky, his dark skin further darkened from working outdoors, was standing with his abdomen pressed against the bed. He gently massaged the back of his wife’s right hand with his thumb.
“Hello, I’m Dr. Jenkins.” I extended my hand to Velasquez who took it and returned my squeeze. His hand was rough, calloused but clean, even the fingernails. “I’m a neonatologist, …” They both stared at me without comprehension. I tried again. “I’m a baby doctor, I take care of newborn babies.”
“When can we see our baby?’ asked Velasquez. “They took her away as soon as she was born. Why can’t we see her, hold her?”
“Yes, where is my daughter,” Mrs. Velasquez’ voice cracked.
“I’m afraid the news is not good. Your daughter was born with a very serious condition and she is in the intensive care ward for new babies. We have to stabilize her then you can see her.”
“What’s wrong with her?”
Bad news is best delivered early and fast. “I’m not positive yet, we still have to run more tests but I believe she has a condition known as glycine encephalopathy.”
Both of them stared at me.
“It’s a congenital disease, something your daughter was born with. In a few days, when some test results are back, I’ll be able to tell you more about her condition, her treatment and what we can expect.”
More blank stares.
“But when can I hold her?” asked the wife.
“She’s much too ill for you to hold her.”
“I want to see her, we both want to see her,” said the husband.
“Of course, but she is in intensive care. You cannot go into that room but I will tell the nurses to put her close to the observation window so you can see her. You must be prepared though. She has a tube going through her nose into her stomach and she has tiny tubes in the veins in both legs so we can give her intravenous fluids. She also has a tube in her windpipe and is hooked up to a ventilator so we can breathe for her and she has electrodes and other devices attached so we can monitor her heart and breathing.”
The young woman grabbed her husband’s wrist, his skin blanched. She searched his face for reassurance.”
He reached over her with his left hand and gently smoothed the dark damp hair away from her forehead and eyes. “It will be OK Chiquita; this medico knows his business.” He turned back to me. “You do don’t you?”
“Yes, I do.”
“When can we see her?”
“I will arrange a wheelchair for Mrs. Velasquez so you can both go to see her. One of the nurses’ aides will take you there. I have to get back to take care of your daughter. It will be a little while, maybe half an hour. OK?”
“Yes, yes, … half an hour.”
I stopped at the maternity ward nurses’ station to make arrangements for a wheelchair and an aide then proceeded to the neonatal intensive care ward where my senior resident, Frank Williamson, was adjusting one of Baby Velasquez’ intravenous pumps while he added medication to the IV line. The newest resident on my service, fresh from a pediatrics residency program, was engrossed with her tablet computer.
“Well, Dr. Hernandez, I’m happy to see you this morning. You speak Spanish I hope?”
“Good, this baby’s parents will come to see her soon. I want you to join them at the observation window and explain what is happening. She is their first-born. I need you to tell them what they can expect since I’m not certain they speak English well enough to understand me. You might as well learn how to deliver bad news. That’s part of the job. I presume you have read enough from her records to understand this baby is not likely to live for more than a year and a half, two at the most? It’s going to be a rough time for this family.”
She held up her tablet. “I was just going through her records.”
“OK, what’s the presumptive diagnosis, how did we arrived at it, what further tests are needed? What’s the prognosis and what treatment we will be providing?”
Hernandez didn’t need to consult her computer. “Shortly after delivery the baby presented hypotonic, was comatose and had a seizure. You were consulted and suspected glycine encephalopathy. Plasma and cerebrospinal fluid samples were drawn and both were positive for elevated glycine levels and the ratio was greatly increased. Urine was analyzed and the possibility of ketotic hyperglycinemia was excluded.”
“OK, what next?”
She hesitated. “I don’t know, test for some sort of enzyme deficiency? I haven’t had time to read about this condition yet.”
“Fair enough. Dr. Williamson, can you enlighten our neophyte?”
“We need molecular testing for the constituent GLDC, AMT and GCSH genes and for GCS enzyme activity.”
I shook my head. “OK Frank, you just gave me a headache with all those acronyms. So we’ll do the liver biopsy this morning after the parents have seen their baby. Juaquina how long until we can get the results from a liver biopsy?”
“No idea, I would guess several days, maybe a week?”
“Find out for certain when you submit the biopsy sample. Let’s assume, best case, Baby Velasquez has some residual glucosylceramide synthase enzyme activity. What do we do Frank?”
“Aggressive treatment with sodium benzoate to reduce plasma glycine concentrations. NMDA receptor antagonists have improved outcomes in some trials. We treat symptomatically with antiepileptics, a ketogenic diet fed through the nasogastric tube, watch for gastro-esophageal reflux and we have to monitor plasma carnitine because it can decrease with sodium benzoate treatment.”
“Good God Frank you memorized all that since I left to visit with the parents?”
He smiled ignoring my sarcasm.
“What else?” I asked him.
“We’ll need a MRI to rule out a more severe encephalopathy and hydrocephalus. We also need to recommend a medical genetics consult for the parents in case they want more children.”
“OK Juaquina find out all you can about this condition in the next twenty minutes. I’m depending on you to explain what is happening to the parents but in terms they can understand. Don’t talk down to them. Don’t allow them to feel guilty, it’s not their fault and for God’s sake don’t let Frank talk to them, he’ll scare the feces out of them.”
She nodded her head. “OK, I understand. I checked and Mr. Velasquez does have health insurance through the landscaping company he works for, but it’s minimal coverage with a low limit. This will probably bankrupt them.”
“That’s not our concern. You’ll have to come to grips with it. We can do a lot to keep this baby alive, if you want to call her condition living. The hospital administrators, after collecting all they can from the insurance company, will make the parents miserable before they finally write off the majority of the charges. The emotional toll especially on the parents but also on us and on the nurses will be enormous. Keep both the parents and the nurses in mind. Take extra care how you interact with them, OK? Not long ago this baby would have died within days. It’s difficult for me not to believe everyone, including the baby, would be better off if it could still happen.”
“I don’t know about everyone being better off if the baby dies,” said Juaquina.
“You’re suggesting a baby not likely to ever be able to reason or have orderly thoughts or participate in society in a meaningful way, who will be a burden to her family as long as she lives, financially and emotionally, still warrants our best efforts?”
“Absolutely, … not likely still means maybe.”
“So you think a baby like this can benefit society?’
“Not for me or you to decide.”
“OK, it doesn’t really matter what you or I or Frank or our nurses believe. She’s here, and in our care. We are legally required to do everything we know how to do to keep her alive. If we purposely allow her to die we could all end up in orange jump suits. Perhaps you can convince the parents to sign a DNR. It could be helpful but it would only come into play in case of cardiac or respiratory arrest.”
“I agree with Dr. Jenkins,” Frank chimed in. “What is the point in keeping this baby alive, well in reality just keeping her breathing and her heart beating for a few weeks or months? How does that benefit anyone, including the baby? Certainly not the parents.”
“Not for us to decide,” repeated Juaquina.
Dr. Hernandez formed an instantaneous and special relationship with the parents, especially the young mother. She took extra time communicating with her and making certain both the mother and father were able to provide all the care needed once we released the baby from the hospital. Before Mrs. Velasquez could be released from the hospital the family was told the baby had to have a name. Baby Velasquez was named Juaquina after their new best friend. Dr. Hernandez couldn’t stop smiling.
Six weeks later Juaquina Velasquez was back in neonatal intensive care. We were able to wean her from the ventilator after ten days and got her seizures under control by gradually titrating the dosage of the antiepileptic agent that we mixed with the ketogenic diet given via the tube going through her nose into her stomach. It took our best efforts over four weeks to get her stabilized enough to send home with her parents again.
Two months later I answered the page from Dr. Hernandez and saw her fussing over the baby as I entered the neonatal ICU.
“What’s going on Juaquina, when did the parents bring her in?”
“It was four this morning. I gave them my cell-phone number the last time they were here and they called to say she was having seizures. I told them to bring her directly to the ER and I would be waiting for them. We admitted her and I’ve increased the dose of sodium valproate, it seems to be working.”
“Good, what dose are we at now?”
“We got her stabilized at thirty milligrams per kilogram, in divided doses twice daily before we released her the last time. The parents gave her another half dose, as I instructed, when she started seizures last night then they called me. I gave her another ten milligrams per kilo when they got here and just gave her another dose because she was still seizing at her regular six AM feeding time.”
“So what total daily dose are we up to now?”
“Forty milligrams per kilo per day in divided doses.”
“Any more seizures since her last dose?”
“OK then. While we have her here let’s check her plasma carnitine levels.”
“Already sent blood to the lab for that and a CBC.”
“Good girl, we’ll make a neonatologist out of you for certain, given enough time.”
I smiled then after a pause she smiled in return.
“Have the parents reported any signs of cognition in this baby? Can they get a smile out of her? Does she follow them with her eyes?”
“I asked them about that and they are convinced she recognizes them and responds to them. I haven’t seen any evidence of that however.”
“Wishful thinking then?”
“I believe so, yes.”
“OK, when did you last talk to them, are they still here, in the waiting room?”
“About fifteen minutes ago, I told them she was resting comfortably again. Yes, they are still here they won’t leave her here alone. Rita, Mrs. Velazquez, already asked me if she could stay as long as little Juaquina is here.”
“Did you tell her it might be days, maybe weeks before we could send the baby home with her again?”
“Yes, but she is determined.”
So it went. We got the baby girl stabilized again with her seizures under control. We adjusted her diet and feeding schedule and other treatments and she actually gained a few ounces before we sent her home each time. But every six to eight weeks Juaquina Velazquez was back, sometimes with seizures, sometimes with breathing difficulties, sometimes with gastrointestinal disorders, most of the time with more than one set of problems to deal with.
Five days after her first birthday party photos of the occasion arrived for the neonatal intensive care staff to share. Little Juaquina was dressed all in pink, even a pink bonnet on her head, but we all saw the vacant expression on her face. Mrs. Velazquez and the baby were back late that same afternoon. This time the baby was having almost continuous seizures. She had vomited and apparently inhaled some of the vomitus. She was in very bad shape. Dr. Hernandez was nearly as distraught as the baby’s mother.
“She’s up to the maximum dose of valproate Dr. Jenkins, sixty milligrams per kilo and still having seizures. She’s got both moist and crepitant rales, pneumonia for sure, and her heart rate is very high.”
“OK, let’s get an EKG and determine if it’s sinus or ventricular tachycardia. You know why we need to have that information?”
“Yes Sir, V-tach is much more dangerous, her heart could fibrillate.”
It was ventricular tachycardia and despite doing everything possible we were only able to keep little Juaquina Velazquez alive for five more days. Mrs. Velazquez stayed in the hospital the whole time, often standing at the observation window watching one or all of us, including one or more nurses, working on her baby. The total hospital bill for the last weeks of Juaquina Velazquez’ life amounted to over one hundred thousand dollars.
Dr. Hernandez attended the funeral, still providing emotional support for the family. Three days later she was in my office.
“I don’t think I’m cut out for this Dr. Jenkins. It’s too difficult. I care too much. I think I will be much happier just taking care of mostly healthy babies in a routine pediatric practice. I’m beginning to think that you were right. What’s the point in keeping babies like little Juaquina alive when all it does is bankrupt the family both emotionally and financially? I don’t know if they or I will ever recover from this.”
“Give it some time Juaquina, please. You are doing very well on this service. We manage to save more babies than we lose and that is satisfying, even gratifying. You know that’s true because you’ve experienced it. We need people with your abilities, your skills your empathy. You will learn to keep your emotional distance but I hope you will still let families know you care. The families of the babies we are able to save need us, … need you. I think you should take a week or so off. Maybe go backpacking in the Cascades. It will be good for you.”
“Backpacking? You’re kidding me. Backpacking! I’ve never even gone for a walk in the forest, let alone camping out. Backpacking, is that your thing? Is that how you cope?”
I smiled, “Works for me. Communicating with nature, gives a person perspective.”
She shook her head. “No thanks, I’ll pass.”
“Will you take a week off and consider not leaving? Maybe visit your family and talk to them before you make a decision?”
“Yeah, … OK, you sure?”
“Yes, I’m sure, but I do need you to return and finish your residency. If you decide you are unable to continue I will ask you to stay until we can identify a replacement. Will you agree to that?”
“Yes, I can do that.”