Neurology

Today was our neurology appointment for Nathan. We drove from Ocean City, NJ to Chalfont to see Dr. Sapin. Nothing much new came out of the appointment except that she is concerned about his lack of teeth, weight and his skin, which she described as wrinkly and unusual-like an old man's she said. She also noted his low-set ears and recessed chin and reccommended that we see a geneticist. She did not feel that an MRI is necessary at this time because of the need to sedate him, but would like to recheck him again in six months. Nothing else new and exciting. We tried cutting out milk and Nathan seems to be putting on a little bit of weight. On Saturday he weighed 15 lbs 12 ounces at home and he weighed the same this morning at home (when we stopped in.) So next is the GI appt in September, scheduling with a geneticist and getting into the feeding clinic. They called to see if we could come this morning at 10:30, but we had the neurology appt scheduled since May. We'll keep you posted.

First Attempt at Blogging-August 24, 2006

This is my first attempt at blogging, in an effort to update everyone on Nathan's progress. As you know, Nathan is still having difficulty putting on weight and has been labeled "failure to thrive." I purchased a scale for home use and he continues to weigh in at around 15 pounds, the same for almost two months now (below 0 on the preemie charts). We have now moved on to Pediasure for extra calories; however, the situation does not seem to be improving yet. There is an 11 week wait for the feeding clinic at Children's Hospital of Philadelphia. Other issues that may or may not be a symptom of a disorder are, reflux (just switched to Zantac), Hypotonia of the trunk (low muscle tone) Hypertonia of the lower extremites (high muscle tone, spactisty), delayed eruption of teeth, delayed gross motor skills, dysmorphic facial features (recessed chin) and Dysphagia (difficulty swallowing.) He is currently receiving services through early intervention and gets one hour each of physical therapy and occupational therapy per week at no cost. He also receives weekly physical therapy at Theraplay through our insurance (minus the $40 copay). He has had two eye exams with a specialist and his eyes seem to be fine. He had an evaluation with an Orthopedist yesterday at St. Christophers which also checked out fine. He had multiple x-rays and his spine, hips, legs and feet seem to be fine. I was there for a total of three and a half hours. I stole the little hospital gown they made him wear for the x-rays, so that Libby can use it to check out her babies.

Anyway, the first thing the Orthopedist, Dr. Herman, asked was if we had taken him to see a geneticist. I said "no", but I rattled off some ideas of possible genetic disorders that I have researched for Nathan-Pierre Robin, Williams Syndrome, Noonan Syndrome and FG Syndrome. He said to him, he looks like he has Williams Syndrome. Keep in mind, this is not a diagnosis, blood work needs to be done to determine if this is correct. Also, this is a orthopedist, not a geneticist. Anyway, the outlook for Williams Syndrome is not so good, moderate mental retardation (iq of 60-80), elfin features, short/small stature and the list goes on... It seems that people with Williams Syndrome are rarely able to live independently and only 10% attend mainstreamed school with support. The positive things are that they tend to be very social, especially with adults. Also, Williams Syndrome occurs spontaneously, 1 in 20,000 live births and we are no more likely to have another child with Williams than we were this time. Anyway, keep in mind, this is not a diagnosis written in stone, just trying to get used to the idea. I have a feeling it is and you know what they say about a mother's instinct.

I have been a mess emotionally in the past several weeks, dealing with all of this. I am having a difficult time accepting that our son's appearance may be different and that he will most likely not have a normal life. I apologize for not calling people back etc. I am just feeling a bit down and overwhelmed. I am hoping that this blog will allow me to catch people up on Nathan's progress and my progress as well. I would like to eventually start a website, but this was the easiest way to get the information out right now.

Nathan's upcoming appointments include a neurological eval on Monday, August 28, 2006 and a GI appt on September 19, 2006. We will let you know.