caterina
Birth to Diagnosis
Caterina was born a healthy and happy baby via vaginal delivery on May 30, 2003. She weighed 8 lbs., 9 3⁄4 ounces, and measured 21 inches. She passed all her tests with flying colors, receiving an Apgar score of 9, and came home with us 48 hours later, eating and sleeping well, and doing everything a newborn was supposed to be doing.
At six weeks of age, we noticed that Caterina’s right side of her head was flattening out, giving her head an abnormal shape. When taken to the pediatrician, we were told that this anomaly was most probably due to her sleeping habits, and that we would work with some re-positioning exercises to even out her head shape. The diagnosis at the time was plagiocephaly, which simply means abnormal head shape.
At 12 weeks of age, when taken for her routine check-up, the pediatrician noted that Caterina’s head size was disproportionately larger than the rest of her body. The head circumference was off the charts for a child her age. Although a physical difference like this may normalize itself over time, we opted to be aggressive and perform an MRI of her brain. The results of the MRI were that Caterina had some water accumulating on the external part of her brain, a condition called “external hydrocephalus”. We took her to a neurologist at NY Presbyterian Hospital, where she was born, and where all of her doctors are based. The neurologist told us this was a fairly new diagnosis, but a benign situation, which would self-correct over time. Although we were perplexed by the potential cause of this, we were continually reassured that this posed no threat to her other than some minor developmental delays which could be corrected with physical therapies.
Over time, as parents we continued to observe mild differences between our eldest daughter, Camila, who was 18 months at the time of Caterina’s birth, and baby Caterina. Their temperaments were very different, their sizes were very different, and Caterina’s features simply did not resemble those of her families. Soon Caterina started showing signs of developmental delay. She was not sitting on her own at the appropriate time, she was having a hard time keeping her mouth closed, and she seemed unfocused and less alert than the normal child. At age 6 months we went back to the neurologist, who said Caterina would qualify for Early Intervention for physical and occupational therapies to help her catch up to her peers. The doctors remained unconcerned about anything else being wrong with her.
As parents, we still did not feel right, but trusted our doctors. Nevertheless we went to get a second opinion from a pediatrician at Mount Sinai hospital who did not see anything particularly wrong with Caterina, and agreed with all the diagnoses to date. She was 6 months old at that time.
Caterina received early intervention therapies from the age of 7 months until 12 months of age. During those winter months she progressed and was catching up to her age group, but still demonstrated about 1-2 months of delays in certain milestones. She was receiving therapies 3 times a week and the thera- pists were happy with her progress. At the same time, she began to get various colds and viruses, several of which resulted in ear infections. This did not seem out of the norm given the severity of a New York winter, and the pediatrician proceeded with the usual course of action- antibiotics, and the regular over the counter medications.
Several other exams were done on Caterina between the age of 8 and 12 months; on one occasion her physical therapist noted that her hips opened wider than the normal. We had an ultrasound of her hips and an x-ray done, all of which appeared normal. At about age 11 months we also noted that Caterina’s breathing seemed very heavy or “noisy”. We took her to an ear, nose and throat doctor who noted that her adenoids were very large and prescribed a nasal spray to temporarily relieve the situation and mentioned she may be a candidate for adenoid removal.
As parents, we continued with a feeling of concern that there was something “off” about our child. Nonetheless, all tests and observations by various doctors, all highly qualified, kept assuaging our fears. When Caterina celebrated her first birthday, we decided to rule out one more specialist, and made an appointment with a geneticist. That same week, we returned to Caterina’s neurologist, who noted low muscle tone in her mouth and expressed a higher level of concern all of a sudden with Caterina’s devel- opment. We mentioned that we were going to see a geneticist that week to make sure all of the pieces were not adding up to something greater.
Just one day before our appointment with the geneticist, we made an appointment to x-ray Caterina’s back, which the week earlier, we had noted had developed a small lump in the middle to center vertebras. Unsure of what it was, the pediatrician had referred us to NY Presbyterian Hospital again for an x-ray.
June 9, 2004, 9 days after Caterina’s first birthday, our greatest fears were confirmed when the radiolo- gist diagnosed Caterina with Hurler’s Syndrome, a rare genetic disorder, whose incidence is 1 in 150,000 births in the United States. The next day, June 10th, we visited the geneticist at NY Presbyterian, who upon observing Caterina and hearing our concerns was virtually certain that Caterina had an MPS (mucopolysaccharidosis) disorder. Blood tests would later confirm that Caterina was indeed missing the alpha l-iduronidase enzyme, the clinical definition of Hurler Syndrome, or MPS-1.
We were given virtually no options, and told that Caterina would live “a few years”. We immediately visited all kinds of specialists to assess Caterina’s overall health. We then embarked on a major research initiative on our own, and with the assistance of close friends. This is how we came across the article in the New England Journal of Medicine, published May 2004, which discussed the successes seen to date with children who have Hurler Syndrome and are transplanted with unrelated umbilical cord blood stem cells. (Click here for PDF download)-->
We called Dr. Joanne Kurtzberg at Duke University Medical Center and scheduled a consultation the following week. We traveled to Duke the 3rd week of June and made up our minds to undertake the risky treatment – this was the best hope of giving Caterina a better chance at life. On July 3, 2004, we arrived at Duke. Caterina had surgeries to remove her adenoids and tonsils on July 8th. After two weeks recovery from that surgery, she was admitted to the hospital on July 27th. On August 6, 2004 Caterina received an unrelated umbilical cord blood transplant from an unknown donor.