Maya Williams
Born May 2007
Written by Catherine Williams

Maya was born in May of 2007 at Women & Infants Hospital in Providence, Rhode Island. She was delivered by emergency C-section three weeks early because she was breech and the amniotic fluids were slowly leaking. She was 7 lbs. 2 oz. and 21 inches long. Her Apgar scores were 8 and 9.

Maya

She was perfectly healthy and absolutely beautiful. Right away, she loved to be cuddled and held and sung to. Maya started breastfeeding right away and would cry when she wanted to eat; things seemed to be going very well. The day we came home from the hospital, our first pediatrician called us and asked us to take her temperature because the hospital’s labs had indicated an abnormally high white blood cell count. Her temperature was perfect, however, and the pediatrician thought this could be explained by the stressor of swallowing meconium at birth. A day later, when Maya was a week old, an endocrinologist at Hasbro called to tell us that Maya’s newborn screens had detected hypothyroidism, and that she would need to come in for testing and to start medication in order to replace the thyroid hormones that her body was not making. She started having trouble eating that same day; she would not feed and cried for an hour. Later that night, we again had trouble getting her to eat and she had a low-grade temperature. Because of all the concerns, the pediatrician sent us to the emergency room. They told us she could have anything from a virus to meningitis and we were admitted for our first hospital stay. Maya started eating more, and as things were ruled out, they were ready to discharge us. We did meet with endocrinology and they performed a scan to try to determine the cause of her hypothyroidism. They found that she did have a thyroid so at that point they couldn’t tell us why her body wasn’t making the proper hormones, but started Synthroid that night.

Maya

We were happy to be home with our new baby, and we tried to adjust to our new household. Maya constantly struggled to eat and gain weight, however, and her frequent weight checks and the concern over her health brought a great deal of stress on us. She would gain three ounces in a week and a half at times. At five weeks, she had just returned to her birth weight. She was constantly vomiting and started to have diarrhea and a rash that spread all over her body. I called her pediatrician and told her that we wanted to take her to the emergency room. She started to explain what Maya would go through there as if she had never been, and I realized that she didn’t even remember that we had been there before four weeks earlier. I was very upset with this and as soon as we got to the ER, I asked to have a hospitalist assigned for her care and told them that we were leaving her pediatrician’s private practice. We described all of her symptoms and we were once again admitted and told that we could not leave until she gained a substantial amount of weight. They added Enfamil to her breastmilk in order to make it 24 calories per ounce. They tabulated that she would need at least 18 ounces a day in order to grow. She was to be fed every two hours around the clock in order to ensure that she would meet this goal. She was also prescribed Zantac for her reflux, which they felt was responsible for her vomiting. I asked her hospitalist if this was failure to thrive, as this was a fear that I constantly had in the back of my mind. He said that it was, but that it was nothing we were doing wrong. He said time would tell if there was an underlying problem that was causing her body to consume more calories than it should. One doctor questioned two large pads above her bottom, but the hospitalist dismissed them as “baby bed sores” that he felt developed because of her breech position while she was in the womb. They performed her first echocardiogram as they said some babies with heart problems burn more calories sweating while their heart works on overdrive. Her cardiologist, Dr. Zeigler, explained that she had a pericardial effusion around her heart and enlarged ventricles that he could not explain. He said it would take follow-up to make sure that these problems went away and that they did not affect her heart’s function in the long term. We were overwhelmed by the idea of waiting and waiting to see if she would be alright, but we were discharged after just five days and two ounces gained, as they insisted that they were not doing anything in the hospital that we could not do at home.

Maya

Two days after leaving Hasbro, we met our new pediatrician, Dr. Haines, and her staff at Children's First Pediatrics, including Maya's nurse Sue. They fast became an integral support for us as we struggled to put weight on Maya and foster her development. We had several weight checks where I sat and cried to them because her weight hadn't budged and we were feeding her constantly around the clock in shifts and increasing calories and changing formula and exceeding her caloric goals and still not getting anywhere. Dr. Haines would gently suggest that there might be something wrong with Maya, as she still had not yet begun to smile or coo or hold her head up and her eye contact had not improved. Although at times, we thought that she might be right, not knowing for sure meant that there was hope and Maya was so beautiful, it was hard to believe something was wrong.

When Maya was eight weeks old, she weighed only 8lbs, 3oz and she went an entire week without gaining a single ounce. Looking back, she looked fragile. Maya's pediatrician was contemplating putting us in the hospital so that she could meet with genetics, neurology, nutrition, and dermatology-for her stubborn eczema, cradle cap, and diaper rashes- while in-patient. She made her decision sooner rather than later when she found Maya's liver enzymes to be sky high; they were in the 800's and there was no explanation but she felt strongly that someone could pull together Maya's symptoms- pericardial effusion, enlarged cardiac ventricles, hyperechoic kidneys hypothyroidism, failure to thrive, and elevated liver enzymes- into one underlying diagnosis.

On July 10, we were admitted to Hasbro for the third time in Maya's life; she was two months old. It was then that we first had to use an NG tube to feed Maya. This was a very difficult decision and was one of the lowest days of all our hospital stays because I no longer felt like I was providing for her. They convinced me that this was the best way to keep her from losing her calories, as she would vomit less and be provided with calories around the clock while saving her the energy it normally took to eat. They also began to feed her 28 calorie Neocate. Cardiology performed another echo and told us that we needed to figure out what was causing her pericardial effusion because it was growing and at this rate it would become problematic for her within the next several weeks. We stayed only five days before being transferred to Children's Hospital in Boston. The idea of going to Boston for a diagnosis had been discussed before, and leaving made us hopeful that we might finally have one.

We stayed at Children’s Hospital Boston for two months while they consulted Cardiology, Genetics, Neurology, Nephrology, Hematology, GI, Ophthalmology, and Otolaryngology. The Genetics team took labs immediately for CDG because it was the number one thing that they suspected, and we waited two weeks for the results and then another two weeks for the typing to come back. Her prognosis, given all the systems that were already affected, was grim. Her doctors felt that she probably would not live past infancy, and that she would most likely never eat or walk or talk and that she would have limited hearing and vision. We made the difficult decision to drain her pericardial effusion regardless, however, because each day we were seeing her smile and talk and play more and we knew that she was connecting with us. Her doctors also consulted with Dr. Krasnewich, the nation’s leading specialist in CDG, who made it seem like there was more variability in prognoses of Type 1a children and that despite the fact that she was having problems with so many of her systems, this would not necessarily translate to a grim outlook for the future. With those hopes in mind, we pressed forward with our plans to nurture her development and provide her with all the love and support possible. We had a G-tube placed so that we could stop worrying about the endless NG tubes that she kept pulling out and so we finally got to see her face again without all that tape. Maya had more testing- bone scans, an MRI, vision and hearing screenings, developmental assessments, all to help us determine how we could best prepare for the future. Her doctors at Children’s patiently consulted and consulted based on Genetics’ recommendations. When we finally left in September, Maya was just over 4 months old and besides her cardiac, liver, and thyroid problems, we had added problems with anemia, clotting, her albumin, her kidneys, and her vision to our list.

Within a week, Maya also began having seizures. She has had several EEG’s and an MRI to rule out stroke-like episodes or bleeding. She was put on Keppra, and as the seizures continued to worsen, Clonopin and then phenobarbitol were added. Her seizures have slowed in frequency since her last medication was added.We are hoping that this combination of medications will continue to be effective, because her seizures were painful for us to watch and it was impossible to leave her unattended for fear she would have one and no one would know.

Maya’s doctor believes that her immune system is affected by her disorder,

Maya

and she has remained housebound since she was four months in order to guard against risking infection. Despite all of our efforts, however, Maya has been hospitalized four times over the course of the winter. She has had numerous stomach bugs, along with C-diff and ascitis and two double ear infections. Her last hospitalization was very difficult. She became ill very fast and needed a transfusion of albumin and she became so dehydrated that she had her first bouts of hypoglycemia. That was by far our scariest time, as they had trouble getting her sugar under control for several days and she would go from looking like her happy self to listless and limp in a single afternoon. We are hoping that this experience has trained us to watch for signs that her glucose levels are off before she ever gets that sick again. Although many doctors tell us that hypoglycemia is not normally a problem in children with type 1a, Maya’s geneticist has warned us of this many times. We’ve become accustomed to her challenging everyone’s expectations. Maya continues to be seen at home by Early Intervention. They provide physical therapy, vision and hearing services, and feeding and speech therapy. Our state provides nursing hours at home also, which has been indispensable. Maya has had the same nurse five days each week since October; she’s been coming to our house since Maya was only 4 months old. She is followed closely by her doctors at Hasbro and Children’s, and especially by her pediatrician, who calls almost every day to check in and make sure she is doing well. We are grateful to her for aggressively seeking out answers to the “mystery” of Maya. Within a month of meeting her, we had a diagnosis because she helped us push and push until we had one. Finding out that Maya had a rare and untreatable metabolic disorder was horrible, but it did not compare to the pain of wondering what was wrong with her every day that went by without a diagnosis. We consider ourselves lucky to have had the support of a pediatrician that at times encouraged, guided, and consoled us. We are very grateful for the culmination of efforts amongst her treatment providers.

All of the support we’ve had has not only helped us but it has also helped Maya. She is growing and taking in more and more calories. She has constant attention from our family and friends, her nurses and doctors, and various therapists. She is such a happy baby. She smiles constantly and is babbling all day. She went from not putting her hands together to putting them in her mouth to putting her feet together to touching her hands to her feet. For the first time two days ago, she grabbed her instrument and put it into her mouth. Just yesterday she pet our family dog for the first time-our dog was so proud! She cannot yet sit up, but she is rolling from side to side and tolerating tummy time more and more. We are grateful for every accomplishment and don’t take anything for granted. Maya is such a beautiful baby and you cannot help but look at her and be proud to be the parents of such a sweet and spunky baby with all the inner strength in the world inside her. Every day brings new trials, but Maya pushes through her frustrations and inspires those around her to do the same.

eff: 2008