(Giovanni, nascido em Brasília em 9 de abril de 2011, é portador da síndrome de deleção 1p36. Futuramente, publicaremos postagens também em português.)
Inspired by other parents of kids with 1p36 deletion syndrome, Giovanni’s parents, Victor and Ana Claudia, are starting this blog with two main purposes. The first is to keep those people that love and care for Giovanni updated about his medical conditions, his development, his victories and challenges. The second is for us to be part of, and contribute to, the virtual community of 1p36 families, which we feel will be an ally on our journey, helping us obtain support and practical information.
Giovanni Santiago Hart was born on April 9, 2011 in Brasilia, capital of Brazil. He has a sister, Camila Daya, who is 3 ½ years older than him, and extended family in Brazil and the United States. He’s a beautiful kid who hasn’t had many breaks so far in life—at least not as far as his health is concerned.
In this first post, I will try to relate the numerous challenges Giovanni has faced in his first seven months of life.
When Giovanni was born we were thrilled and hopeful, although we had been concerned because of the single artery in the umbilical cord (often associated with chromosomal abnormalities), and one of the pediatricians at the hospital commented on his facial features, which could be indicative of a genetic abnormality. His Apgar scores at birth were good and we were quite hopeful for his good health.
However, he failed to gain weight as expected and had to stay a few extra days in the hospital. When he finally went home on the fifth day, he developed intense infant jaundice and lost a great deal of weight, needing to return to the hospital four days later for treatment. His jaundice improved, he began to gain weight again, and returned home.
During this initial period, we were extremely concerned about his upturned feet, and both the pediatricians and orthopedists who saw him thought the condition likely had a genetic and/or neurological component. However, when we later took him to the true specialist, a pediatric orthopedist, he was almost certain that it was due to posture in the womb, wouldn’t require surgery or even casting, and would correct itself over time. Thankfully, this seems to have been the case. So I guess Giovanni has had a break or two in life . . .
Due to the upturned feet and the initial concerns about his facial features—a low-set ear, downturned corners of the mouth, low, straight eyebrows, and others—several tests were done in the hospital. He was diagnosed with spina bifida occulta, which of itself is not necessarily a serious concern. What worried us more was the diagnosis of hydrocephaly on one side of the brain.
At home, Giovanni gained weight very slowly, possibly due to reflux, and when he was 2-3 months old, it was fairly evident that his neurological development was delayed, since he did not smile at all, nor did he seem to be making any progress in holding his head up. Further, he displayed almost total visual inattentiveness, never fixating his gaze on us, nor following visual stimuli.
Every week, we had multiple doctor’s visits and exams, to try to get a grasp on Giovanni’s condition.
At 1 ½ months, Ana Claudia saw him (very briefly) moving his limbs rhythmically. Thankfully, she was very concerned and brought it to the pediatrician’s attention. He was immediately referred to a pediatric neurologist, who ordered an electroencephalogram (EEG) and an MRI of his brain. Giovanni was diagnosed with epilepsy and prescribed phenobarbital. In addition, the MRI showed significant white matter damage in his brain. The neurologist said it was impossible to know the cause at the time, but told us we should have 3 urgent priorities: (1) controlling the seizures, (2) getting Giovanni to gain weight, and (3) providing him with as much early stimulation as possible, including with the help of therapists.
His seizures did not repeat, but the weight gain issue was extremely frustrating. Ana Claudia was breastfeeding him: her milk production was copious and he suckled quite well. But he frequently spit up the milk. The anti-reflux medication did not seem to help, nor did any of the other measures we took. Ana Claudia went on strict diets, since the gastroenterologist thought the only cause could be allergic, since he did not have reflux disease. For one month (the fourth), this seemed to solve the problem, as he gained 800 grams. Subsequently, however, his weight got stuck at exactly 5.3 kilos, and simply would not budge for weeks on end.
Finally, just before Giovanni turned 5 months, the gastroenterologist decided that he should try Neocate, a synthetic, hypoallergenic milk formula. A week later, he stopped breastfeeding.
As for the early stimulation, immediately after seeing the neurologist, we began a fairly intensive program. A physical therapist with previous experience with developmentally delayed kids came to our home daily for an hour. In addition, once a week, Ana Claudia took him to an occupational therapist, and twice a week to a public school for the blind that offers visual stimulation to infants. We were also admitted to the nationally prestigious Sarah Rehabilitation Centers, though we found his treatment there be very slow paced. At home, we did our own stimulation sessions every day.
The Sarah centers did contribute in one very important aspect. Giovanni had seen a geneticist from early on, but the first karyotype that was done did not reveal any abnormality. A geneticist at Sarah suggested his chromosome 1 be looked at more closely, and subsequent, more detailed testing finally provided Giovanni with a diagnosis that explained just about everything that had happened to him. We received the diagnosis a week before Giovanni turned 5 months. He has 1p36 deletion syndrome, a genetic abnormality that occurs in one out of about every 5,000 or 10,000 births, due to an accidental error during gamete formation. Here’s the best article I’ve found so far on 1p36:
http://pediatrics.aappublications.org/content/121/2/404.full.pdf
The more we read about the syndrome, the more devastated we became, since developmental outcomes are severely compromised and the syndrome causes countless health problems and neurological, sensory, and motor limitations. But at least we finally had an explanation and a framework.
A couple of weeks later, one September 21, Giovanni got pneumonia. It wasn’t a particularly severe case, and he was able to stay home and take antibiotics. On the eighth day, he apparently developed an allergy to the antibiotics, and since the x-rays and clinical assessment indicated his pneumonia was cleared, the treatment was suspended, even though normally he would have taken it for ten days.
Two days later, his pneumonia had returned with a vengeance, and we rushed him to the hospital.
He has now been in the pediatric ICU for 37 days. His pneumonia took quite a while to clear, and then his reflux proved to be a terrible problem, contributing to intense mucus secretion in his lungs and airways. The ICU team decided that he should have a gastrostomy and fundoplication, to cure the reflux, reduce the secretion, prevent future cases of pneumonia, and allow him to gain weight.
Prior to the surgeries, on October 27, he had multiple seizures, despite the continued use of the phenobarbital. They were finally controlled by Depakene (valproic acid), a different anticonvulsant medication.
The surgeries seemed to go well, but soon after he developed a bacterial infection and became anemic, requiring a new round of antibiotics and a blood transfusion. We are still waiting on test results to see how he is progressing on these two fronts, in addition to awaiting the results of a second EEG.
However, today I was delighted to see Giovanni’s face with no tubes. At the moment, he is not requiring oxygen support, and the feeding tube has been permanently removed from his nose, since thanks to the gastrostomy he is now fed directly into his stomach (which is not nearly as bad as it sounds!).
One of the best things that has happened with Giovanni is that his visual inattentiveness has been overcome, thanks, at least in part, to the therapy he received before he came to the hospital. Last night and this afternoon, when I spent a few hours with him in the ICU, he gazed at me intently, for long periods, and repeatedly lifted his arm and felt my face with his hand. This was awesome.
Giovanni will stay in the hospital for at least another week, until he completes his antibiotic treatment. We’re very hopeful that soon after that he will finally return home.
A few weeks ago, we (his parents and the pediatricians here at the hospital) requested that when he go home, the insurer provide Home Care. From what I understand, here in Brazil this basically means a hospital room is set up in your home, with all the needed equipment, and nurse technicians are present 24 hours a day, in addition to various doctors and specialists visiting him at home on a regular basis.
The insurer denied this coverage, so we went to court, and the judge quickly granted a preliminary injunction ordering the insurer to provide it. This is, obviously, a great boon. It will be a challenge having strangers in and out of our apartment all the time, but it will be wonderful to have that kind of help.
I should note, in this regard, that in these nearly seven months, Ana Claudia has taken on the lion’s share of the work involved in care for Giovanni, his endless doctor’s visits, stimulation appointments, and so forth. While I’m sure she will continue to be extremely dedicated, and I will continue to help out on a daily basis, spending as much time as I can with the kids, I’m also hopeful the Home Care will allow her to eventually return to many of her regular activities (including, eventually, go back to work), without compromising Giovanni’s care.
I think that sums up Giovanni’s first 7 months, from a medical standpoint. We’ll post again soon.
