Sylvia was a new year’s baby, born on January 1, 1999 after 48 hours of labor. Sara’s pregnancy had been smooth and there were no prior indications of any problems. But when Sylvia was born, we were told she was very small. With little experience with babies, I had no idea how small. So my jaw dropped when she weighed in at 3 lbs 7 oz. Still, Sylvia was a healthy, beautiful little girl, from the moment of her birth, and she entranced all that encountered her (okay I’m a bit biased, but she is awfully cute). Sylvia stayed in the NICU for 10 days, while she got used to feeding from a bottle and breast (the nurses stopped the lavage feedings after day 2) and became capable of maintaining her body temperature. While in the hospital, aside from the usual battery of tests, a geneticist, Dr. Tifft, was brought in as a consultant, as the staff searched for a clue as to the cause of her small size. Dr. Tifft told us there was little she could tell at that point, and we should see her when Sylvia was 3 months old. In the meantime, Sylvia failed a hearing screening, the first indication that there were any physiological problems. (A couple of months later, after a series of tests, it was determined that Sylvia has a mild hearing loss in her right ear and a moderate loss in her left ear. She now wears hearing aids and, with their help, is thought to be able to hear all human speech and should be an oral child.) Also while in the hospital, an ophthalmologist was brought in, because one of her eyelids did not open up all the way. It turns out that Sylvia had ptosis, or an underdeveloped eye lid muscle. She has since had surgery to correct this problem.
So after 10 days we were sent home with Sylvia knowing that there were a couple of issues for Sylvia, but they seemed to be ones that could be dealt with relatively easily. Once home, she seemed to thrive. Over the first couple of months, Sylvia gained weight rapidly. Of course she was still small, but she seemed to making great progress. We saw the pediatrician often and were following up on the hearing and eye issues. But, mostly we thought that Sylvia would be fine.
But starting in May, things began to become more difficult and complicated. Sylvia’s weight gain slowed down considerably, almost coming to a halt. We went back to the hospital she was born in, for a four month developmental follow-up that they offer for all babies that stay in the NICU. We knew that Sylvia was delayed in some areas, but we thought these were mostly due to the hearing and vision problems and she would be able to overcome them. However, the assessment was a rude awakening. Sylvia was evaluated as having significant delays in all areas. Unfortunately, the assessment was brief and the evaluators showed little sensitivity to the situation, nor offered much constructive help. We were unprepared and pretty devastated.
Fortunately, just after this evaluation we went to see a teacher who had been assigned to us from Montgomery County’s (Maryland) deaf and hard of hearing program. She was wonderful in offering us a different, more positive and constructive view of Sylvia. Yes, Sylvia had some problems, notably her gross motor skills were very delayed and were impeded by an arching behavior we are still trying to break. But she also is very active, clearly wants to move and is alert and social. As it turned out this teacher, was just the first of many we now have. We are fortunate to live in a county with excellent services. Sylvia now has, in addition to the auditory teacher, a physical therapist, a special education teacher and an oral-motor therapist, all of whom come to the home for weekly visits.
Following hard on the heals of the four month evaluation, we went back to the geneticist and Sylvia had her eye surgery to correct the droopy eye lid. The surgery was very successful and greatly enhanced Sylvia’s ability to interact with her environment. After a thorough examination, the geneticist ordered chromosomal tests. The first round of tests revealed an unbalanced translocation in the 7th chromosome, but the affected area was too small to tell what other chromosome was involved. Dr. Tifft told us that more tests might reveal more information, but since the affected area was so small, she was unsure. By then time we got these results it was early July. Dr. Tifft told us that in all likelihood Sylvia would have some level of cognitive deficit, be of small stature and was at risk for a variety of other problems. She detected a heart murmur and recommended that we follow up with cardiology. She also recommended a renal sonogram, because this area was also vulnerable.
The cardiologist determined that Sylvia has three small, benign holes in her heart, which, in all likelihood will close up spontaneously. That was certainly a relief. But then we went for the renal sonogram. The sonogram revealed a mass next to the kidney and the adrenal gland. We had to follow up with a cat scan, as there was concern that the mass was a tumor and possibly a form of cancer. Happily, the cat scan and follow up sonograms have convinced the doctors that Sylvia has two benign cysts on her kidney, not tumors, which have no negative impact.
In the meantime, weight gain continued to be a problem. Most recently, Sylvia has been diagnosed with moderate reflux and gastric delay (her stomach does not empty quick enough, so she gets full quickly). We have started her on regalin and zantac, which seems to have increased her appetite significantly and made her more comfortable. We are hoping her weight gain will also increase, but we also know that Sylvia is destined to remain small.
Just two days ago Sylvia had another round of surgery and two other procedures that we had them do since she was already under. The surgery was to correct her strabismus (crossed eyes). She looks good already, although the Doctor told us it will take six weeks for the muscles to heal. At that point he will be able to evaluate the success of the surgery. She also had a second evoked response test (hearing), in preparation for getting her own hearing aids. Right now she is using donor aids. We were thrilled to learn recently that Children’s Hospital received a grant to supply new hearing aids for babies and that Sylvia will be a lucky recipient. The hearing aids are very expensive and are not covered by most insurance. They also did an endoscopy (a camera down the esophagus and into the stomach), we are still awaiting the results of that. Sylvia is one tough little girl and came through all of this amazingly well. By the late afternoon she was chattering and giggling away.
A couple of weeks ago we finally got the results of more sophisticated chromosomal tests, which revealed the partial trisomy in chromosome 10. We were delighted to find this web site and to read the wonderful stories of the other children. Just today I saw the new entry for Josh Smith, which was very encouraging. Like Josh, Sylvia is small, has poor muscle tone and has both ptosis and strabismus (crossed eyes). It was terrific to read how well Josh is doing. A role model for Sylvia!
Sylvia is now 10 months old and our delight. She is still very small, 12 pounds as of today. She has delighted us over the last month by beginning to babble. Sometimes she is a little chatterbox. She is getting stronger all the time. We are working on getting her to be able to sit independently. She seems strong enough, but balance and her arching backwards are still a problem. But she is making great progress. She loves people, looking at faces and interacting in all sorts of ways. She has a great smile and laugh. Sometimes I just want to know what the joke is. But someday she will tell me.
At the end of the month she will have an MRI on her brain. Our hope is that after the surgery and MRI, the medical testing and procedures will fade out. Way too much of Sylvia’s short life has been taken up by doctors and hospitals. It is time just to enjoy our lives together. The last 10 months have been an intense, wonderful and terrifying journey. We look forward to continuing the trip. Thanks for a small glimpse into your own journeys.
|Name||Sylvia Jane Schneer|
|Birth Date||Jan 1999|
|Diagnosis||De Novo Unbalanced Translocation, 46,der(7)t(7;10)(q36;?q26.2)|
|Parents||Sara Duke and Matthew Schneer|
|City||Takoma Park, MD, USA|
|saraduke1[at]starpower[dot]net (change [at] to "@", etc.)|
Sylvia - Jan 2006 |