User:PWSMom

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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.

12 months

We wanted to get him to eat healthy foods and we wanted every bite to count. We shifted to whole milk, but blended it with banana. I think we did 20 ounces of milk plus 1-2 bananas and put it in a straw sippy cup. We would make it in the morning and have three cups in the fridge for the day. He was pretty good at drinking it. We also fed him an avocado a day and an egg a day. I would take a hard boiled omega-3 egg and give him teh white (at age one) and take teh yolk (iron?) and mix it with a bit of milk and flax meal to make a paste. Believe it or not, he would eat it. We also fed him lots of whole milk yogurt and cottage cheese and bits of cheese. These foods were his staple diet. We would also give him bits and pieces of what we were eating to teh extend that he was capable of eating/chewing them. We didn't count calories at this phase, just made sure he got the egg and the banana milk in him and always had a high calorie food (avocado or cheese) on his tray.

15 months

He continues to astound us. He is not yet walking, but he crawls and crawls up stairs and pulls up and cruises and can stand for a second or two. His language skills seem quite good. He uses quite a few words (30-40??) and regularly uses two word combinations. He has used a 4 word combination (play bath bubble Jerica - his big sister). Fine motor seems fine. He signs about five words and feeds himself - sometimes even with a spoon!

His weight continues to be at the 25th percentile while his height is between 50th and 75th percentile. He is off the bottle. We make him a smoothie of banana in whole milk which he takes through a straw sippy cup. We also give him a lot of avocado and cheese. He now feeds himself completely and we do not worry about calories (other than being sure to offer at least one calorie -dense food per meal). Our family has always been a big whole grain, olive oil, fruits and vegetables sort of family and so we continue that. We also have never eaten a lot of sweets. He now wants everything we have and so he has had a couple of meals of macaroni and cheese and a few bites of ice cream over the past month or so. Mostly, however, his meals have been very healthy.

We took him to Singapore for 2 weeks and he did wonderfully. He ate giant clam and curry and white radish cake. He was doted on by grandparents and none of the extended family knew or suspected his diagnosis (this is at the request of his paternal grandmother).

His hair has turned dark brown, but he still has dark blue eyes and pale skin. His features look very much like my girls. The tone has improved in his face and so he now makes more expressions. He is not a loud baby, but he is more than capable of shrieking and crying and repeating words to make his point understood.

He no longer qualifies for early intervention based upon his actual milestone progression, instead he gets it based upon his genetic diagnosis. We work proactively on all of the PWS problem areas. He receives physical therapy weekly, occupational therapy weekly, and speech therapy weekly. He continues to receive monthly Vojta therapy. We have also started him on weekly hippotherapy. Last week, on a fluke, he received four days in a row of hippotherapy. On the third day he started standing and he climbed the stairs.

He is on growth hormone, essential fatty acids, coenzyme Q10, and a multivitamin supplement. We sign to him and read to him multiple times a day. He has a puppy and a dog. He sees our family being very active and he strives to keep up.

18 months

Kian shrieks with delight as he is chased from room to room by his sisters. His joy is infectious and the dogs join in the stampede. Kian is not yet able to walk, but he crawls with enthusiasm and grace. He loves to demonstrate his “tricks.” He entertains us by standing at the edge of his crib and letting go to hold his hands up high and balance on his legs. His face is marked with concentration as he holds his balance before bringing his arms down and giving in to laughter. He applauds himself as we all applaud and cheer. He breaks the standing ovation by speaking and signing “more tricks.” Then he does it again. A typical toddler, he practices over and over and over. We cheer and applaud; he grins and applauds; and he does it again. He cannot yet toddle. He gets what he wants through smiles and talking and gestures. He knows that words are powerful and that when reinforced with signs, they are magic. With his words, he can make us laugh and make us chase him and make us hand him almost anything he wants. With his words, he can make his sister read to him, his mama lift him up, his dog drop the sock, his other sister cover him with a blanket, and his daddy give him water.

And did I mention the horse? He loves to ride, especially over the poles set out in the ring. “More poles, more poles,” he cries and he directs Sonny “up” as the horse lifts his legs extra high to clear the pole. Kian anticipates the extra effort and responds with his words. Sonny responds to the encouragement and turns around for more poles.''

The above was submitted as a description of Kian for a fundraiser for an early intervention program.

At 18 months Kian was assessed by a developmental pediatrician and found to be age appropriate for everything, except for the fact that he is not yet walking. Specifically, Kian scored at 16-18 months for visual-motor problem solving and 18-21 months for language. He is in the 10th percentile for weight and 50th-75th percentile for height.

He receives weekly ST, OT, PT and therapeutic riding. He receives monthly Vojta therapy. He is on a customized multivitamin, EFA's, and 0.4 mg GH daily. We read to him daily and make an effort to get him out and about exploring the world. We have an active household. Currently his eating is entirely self-regulated.

20 months

Kian can walk about 5 steps unassisted and does this a couple of times a day. He can stand independently indefinitely. He is 10th percentile for weight and 50th percentile for height. He has an ear infection and a cold. We note that he has been remarkably healthy. He has two older sisters (4 and 8) and we live in Chicago. So, someone always has the snuffles in our house and Kian is no exception. But, he really has never been truly sick.

Now Kian is 20 months and his physique really surprises me. I am not sure if it is the GH or diet or exercise or luck or a combination, but he is wiry like my girls were at that age. He also has very decided opinions about what he wants to eat. I don't push the high calorie foods as much as I did before. He loves pasta and will eat anything remotely like pasta. He won't eat my healthy egg yolk paste, but he loves it when I scramble his (omega-3) egg with a liberal dose of canola oil (omega-3). He doesn't really drink milk (or banana milk), but he drinks a lot of water and eats a fair amount of whole milk yogurt and cottage cheese. He can eat most of what we eat as a family and will try most things, but always requests pasta. We give him vegetables at lunch and dinner, but he doesn't seem to be too keen on them. So, far, no sign of hyperphagia - except when it comes to pasta! :) He has even gone so far as to request pasta when he sees me poking around the kitchen getting ready to make dinner.

Finally, he is walking. This happened at 20 1/2 months. What surprised me is that it took him several weeks to move from the first steps stage to the truly walking stage. He still crawls quite a bit, but can also walk from one room to another. He also practices waling quite a bit on his own.