JULY 30. Today marks the first week since November that I have not gone to Joshua's home to weigh him. His mom and I would unhook the feeding tube, turn off the humidifier that moistened the air to his tracheotomy, take off the cardiac leads and the pulse oximeter, zero out his clothes and almost hold our breath while we weighed him.
We could not weigh him naked because being undressed for even such a short time could cause hypothermia, so we weighed his clothes and dressed him in exact duplicates.
He had Smith-Lemli-Opitz (SLO) syndrome (see sidebar), and every ounce of weight gain was a victory; in fact, his life was nothing short of a series of daily miracles. Our goal was to get him to one year of age because his chances of survival would go up. Then we could possibly relax a little.
But it was not to be.
We gave him large doses of cholesterol since he could not metabolize it well enough for growth. During a home health visit to address some problems with a change in baseline, I once checked his blood sugar because I suspected hypoglycemia. We discovered his blood sugar dropped dramatically at times, so he was placed on continuous feedings through a Kangaroo pump. His feeding tube had to be placed in the duodenum to prevent reflux, since his stomach could not tolerate much more than ten cc's at a time. He still seesawed back and forth in his fight to gain weight.
Most home health agencies use the 485 government form to record the physician's orders. When recording the diagnosis codes, I had to list nineteen different ones in order to support the billing.
Joshua constantly fought sinus infections because of his trach, his cleft palate and the feeding tube (and, of course, his immature immune system). He ran high fevers and had to be placed on IV antibiotics frequently. Many times starting an IV was a nightmare. He was given IV Respigam monthly to prevent respiratory syncytial virus. The infusion took about five hours to administer. Though we sometimes didn't know what caused his infections, we could tell when he was getting sick; it would be fast and furious. He would be well one minute and desperately ill the next.
Those weight checks were sometimes exciting, especially when he gained half an ounce in a week. The typical newborn gains one-half to one ounce per day. We would cheer and tell him how great he was and what a good boy (as if he had complete control over his weight gain). When he didn't gain, we would encourage him and tell him he needed to think heavy. When he lost, we would be sad, or we would say, "It's to be expected, as sick as he has been," and we would try harder to get him well.
Even when he was six months old, we were wrapping him to keep him warm so he could use all of his calories for weight gain and not to maintain body temperature. We saw some success with that procedure, but then he would run a fever, and it would become more important to cool him down.
What a medical puzzle he was. SLO babies are hard to care for, but we thought sometimes we had it licked. When we had a period without infection, we would be encouraged. We rejoiced at the least little bit of progress. The LPNs in the home were the best, teaching him to hold his head up and doing strengthening exercises for his back. They gave him all the love any child ever had. He got to nine pounds and seven ounces at ten months. He had a huge heart in that tiny body and a thousand smiles.
Did we love that little guy!! He was supposed to be irritable, according to the literature about his syndrome. Instead, he was the most cheerful baby boy you could ever see. Even when he ran a fever of 102, he would smile at the nurses, and he always had a smile for his mom and dad, no matter how he felt. During the numerous times I had to stick him for labs or for an IV, he would get over it quickly, pout a little by sticking out his lower lip and making us feel like real heels, and then forgive us with a huge smile. I felt he knew what it meant when I said, "No more ouchies."
Making eye contact with that child was like reading volumes. Though he couldn't speak, he made himself understood quite easily. In his eyes was the wisdom of a much older person.
Although I know this little guy didn't come here to teach me a lesson, I learned more from him than any class I ever attended. I learned about being tenacious and about the need to think on my toes at all times, even late at night or early in the morning when I'm half asleep. I learned about being caring but also about turning off the mothering instinct when I couldn't get an IV started.
I learned about dealing with guilt when I felt I was helpless to do more. I learned the invaluable lesson of reacting quickly to his mom's cues, even when I did not see the symptoms she reported. Many home nurses miss important signals because they are not with the patient all the time. They do not want to act on anything they do not themselves see. Mostly, I learned the value of a great set of parents.
When I first learned about Joshua, he was still in the hospital. I went to the NICU to see him and to learn as much as I could about his particular problems. I had had other SLO children, but they are all different, depending on the degree of disease involvement. I remember patting his little back in the Isolette(TM) and thinking about the precious little life before me. I wondered how long we would have him and how his parents were taking it. I sat down in the rocker beside the baby and said a silent prayer for guidance.
I determined that my biggest effort would be to allow the mother and father to be loving parents instead of medical caregivers. That was especially important because the mother was a nurse and the father was a physician. When I went to the home for the first time, I was struck by the fear in Joshua's mother's eyes. She was scared to handle the baby, afraid she would hurt him. She expressed concern with his crying and wondered how to comfort him. I walked over to the baby, picked him up and snuggled him close, tubes and all. I said, "Just love him, and enjoy every day you have with him."
This little one would never have lived to ten-and-a-half months without the loving care of his mother and father. They were there for him every second of every hour of every day. Their religious adherence to medications and schedules and contacting doctors and specialists at the first hint of illness kept him alive. I'll never forget how, from his crib, he would watch his mother move around the room or how his head would turn when he heard his daddy's voice. The hours his mother held him when he was sick and kept him calm added months to his life, as well as comfort, security and a feeling of peace. The times he rested on his daddy's chest while they watched television together gave him strength, acceptance and stability.
Joshua was a borrowed blessing, proof of the power of love and the value of life. I am thankful for the privilege of being involved in a small way. Thank you, Joshua, for every smile. Matthew 10:42 says, "And whoever gives even a cup of cold water to one of these little ones in the name of a disciple-truly I tell you, none of these will lose their reward." For me, the reward in Joshua's case was Joshua himself.
Smith-Lemli-Opitz Syndrome
* Smith-Lemli-Opitz is an autosomal recessive disorder, that is, one that is passed on when both the mother and father are carriers. It is manifested in different ways, depending on the patient. Most of the children have either micrognathia or retrognathia, which refers to an underdeveloped lower jaw and chin.
* In Joshua's case, he needed a tracheostomy to breathe. These babies will also have undersized stomachs and reflux.
* Other common problems seen in SLO include a high nasal bridge, a cleft palate, large dental ridges, various malformations of the genitalia (most commonly hypospadias), hernias, polydactyly and/or syndactyly (usually of the second and third toes) and muscle hypotonia.
* Characteristics of the syndrome Joshua did not have include corneal clouding and cataracts, mental retardation, microcephalia, low-set ears, ambiguous genitalia and congenital anomalies of many organs.
* The primary concern with these children clinically is their inability to metabolize cholesterol well, which may affect the myelination or demyelination of nerve cells. -MBC