Difference between revisions of "User:PWSMom"

Revision as of 11:32, 6 April 2005

My Story

My baby was born spring 2004 and what I was most struck by is that my child's PWS experience is not reflected by the medical or new parent literature currently available. Partially, this is because my child appears to be mildly impacted. And partially this is because my child belongs to the new generation of PWS children with multiple early interventions.

Both my husband and I are medical scientists by training. In addition to the extreme emotional pain of having a child with a disability, we are engaged in the problem of PWS. We have no choice about our boy's genetics and therefore we choose to throw everything we have into modifying his environment. We choose to believe completely in the redundancy of the human genome and the incredible plasticity of the nervous system, especially in the early years.

I am grateful to my new brother-in-law who has overwhelmed me with his kindness and care about my son and about PWS. He suggested this wiki as a means of gathering together all of the things that we parents have learned about our children. He spent many hours over Thanksgiving 2004 setting this up for us.

Basics about my son

• Two older sisters: 6 1/2 and 3 years older
• PWS by deletion
• Half Chinese and half white
• Moved a great deal in utero
• Born term at 7 pounds, 11 ounces
• Apgar of 9 and 9
• Placed in intensive care at 24 hours for low tone and inability to feed
• Put on ng tube
• In intensive care for 2 1/2 weeks
• Diagnosed at 2 1/2 weeks
• CoQ10 (Cyto-Med) at 4 weeks
• Weekly physical therapy at 8 weeks
• Weekly occupational therapy at 8 weeks
• Monthly speech therapy at 8 weeks
• EFA's at 8 weeks
• HGH at 12 weeks
• Breast milk for first 4 months and then Enfamil formula
• Vojta therapy at 5 months
• Started solids at 6 months
• Nutrivene customized vitamin supplement at 6 months

My son's milestones

• Moved head back and forth at 4 weeks
• ng tube removed at 6 weeks
• Social smile at 2 months
• At 4 months 25% for weight and 75% for height
• Laughed at 4 months
• At 4 months he had met his age-appropriate gross and fine motor milestones (low points for style, however)
• At 4 1/2 months could eat all food from regular store bought nipple
• At 5 months feet in mouth
• At 5 months can roll over and over to get objects
• At 5 months discriminates between rougher and gentler sisters when he sees them coming
• At 5 1/2 months he was seen by a physiatrist and determined to no longer be hypotonic
• At 6 months can prop sit indefinitely - until he reaches for something
• At 6 months infrequent crying, lots of cooing, poor babbling
• At 6 months moves frequently
• At 6 months can creep and pivot while on belly (but moves in wrong direction)
• At 6 months drops objects and belly laughs when we pick them up
• At 6 months sleeps about 12 hours at night and takes 2-3 45 minute naps during the day
• At 6 months 10% for weight and 50% for length
• At 6 months difficulty eating

Developmental Pediatrician - 6 Months

We saw Dr. Alan Rosenblatt. Telephone 773-481-1818. He has a private practice on the corner of Peterson and Cicero in Chicago.

I really liked him. He is new to Chicago. He had a flourishing practice next to NIH but moved her 1 1/2 years ago for quality of life reasons. He is a Johns Hopkins guy. he was nice and friendly and a team player.

My boy is now 6 months old. Briefly, Dr. Rosenblatt had him at: 3 months for trunk and neck tone 5 months for arm and leg tone 5+ months for gross motor skills 5+ months for fine motor skills 5 months for "catching himself while falling" - I forget the official word 3 months for language. He is just starting to say Bah. Also, he noted the bell but didn't turn to teh bell. This surprised the OT because she has seen him regularly turn to sound as have I. So, it may not be an accurate read. The Bah part, though, is accurate.

So, not too bad. Pretty close on his milestones. Tone is still weak but coming along. Actually there has already been some dramatic improvement since the assessment. Today he was able to keep his arms flexed and his head even with his body while being pulled up by his forearms. He could only do this twice in a row, though, before becoming fatigued.

7 months

Developmental therapist assessed him as having zero delay in cognitive skills and 5% delay in social emotional skills. I think that there was some concern because Kian is only barely displaying stranger anxiety.

8 months

He is now 8 months. Last week he was assessed as developmentally 6 1/2 months. Practically, this means that he should be sitting up and pivoting and getting in and out of the sitting position. Instead, he is "just" sitting and playing with toys. His efforts to get from sitting to belly are awkward at best.

He bears weight and bounces up and down and dances when we hold his waist (and maybe his arms). He can almost stand when holding onto something. He can stay on his hands and knees for about a minute before collapsing.

He waves and claps and smiles and giggles and watches and hugs. He sleeps well and is otherwise alert. He isn't really on a schedule, but if I were to imagine a schedule it is: Wake up at 7:00. Nap from 9:30 to 10:30. Nap from 4:00 to 5:30. Go to sleep at 8:30. We wake him up once during the night to get extra calories into him.

He is a leisurely eater and seems to have no hunger. He is 50th percentile for height and 10th percentile for weight. He has pretty much stayed on a decent growth curve since birth.

You can find me on the PWSA-USA-0-5yr at Yahoo Groups. I am not using my name here because I am unclear how much this will take off and I am not sure if I want my Google identity to be about PWS. When I am not caring for my family, I am a medical writer.