User:PWSMom
Contents |
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.
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.
So, we are closing the gap...
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.
Luke
Luke (2.5 years old in February 2005) born at 36 weeks 5 pounds 4 oz Nicu stay of 55 days Diagnosed at 7 days old growth hormone and coq 10 began at 18 months old (*the year he has been on gh and coq10 he went from emerging to crawl to walking.)
Head up at 5.5 months
bottle fed
prone up on arms (pre crawl position) emerged at about 10-12 months
Tolerated sitting up - emerged at 10 months (fell a lot)and better by 1 year.
Able to do Come to sit 14/15 months and 18 months
crawl emerged at 18 months and really crawling at 2years
Pulling up, close to 2.
He never really cruised like a typical child. He was more like 2ish when he did the 'motivated cruise' - toys all around in higher places to get him to cruise.
walking emerged at 20 months. He used a walker at 20 months for 7 months. At 27 month he walked wobbly without the walker. At 2.5 months he is walking and running.
Speech, once he walked without falling and wobbling the delay is less. He uses nouns and very seldom verbs. He has a sense of humor. He likes to do/say things to make me laugh.
can not hop or jump
potty trained at 29 months
Appetite -can be considered as a typical 2 year old. His appetite fluctuates. Some days he is hungrier than others. He tolerates being told no well.
Telling Others
Following is the text to the article one family placed in their church newsletter. You'll see that it is a very "dumbed down" version of our understanding of PWS, but we figured that if people really wanted to know, then they would either ask questions or do their own research. Please feel free to use this in any way you might wish- it's not copyrighted, so if you want to copy portions and make substitutions- feel free! I hope it will be useful!!!
12/04 Every so often, one of our church family will ask, "Did you ever get any answers about what was going on with N--?" For those of you who might not have known N-- when she was first born, she resembled a ragdoll. Everyone who sees her now comments on how far she has come and on how entertaining she is. I sat down to write this, first of all, because I wanted to thank everyone who has prayed for Noelle and our family. Words cannot express how blessed we have been by the support, concern, and love. We also feel blessed by the obvious joy that Noelle seems to bring to so many people. And second, I wanted to answer that question I started with. We learned over the summer that N-- has Prader-Willi Syndrome, which is a genetic disorder that results from a lack of genetic material associated with chromosome 15. The hypothalamus does not work properly and PWS kids do not have the normal feeling of being full. Their metabolism is about 60% of a normal person's. There are a variety of other symptoms that can be associated with PWS such as cognitive impairments, speech/ language difficulties, scoliosis, sleep disturbances, and behavioral difficulties. There is currently no cure for PWS. If you decide to do any research on your own, I want to stress that anything you read should be tempered by the awareness that every child falls somewhere on a spectrum- not everyone is as severe as some of the cases described on the web.
Right now, we suspect that N-- is at the mild end of the spectrum. N-- is doing very well. She is 30 months old now and has maintained the same weight since we started her diet last winter. She is climbing, running, and loves to swim. She learns something new every day and though she has her "days" like any other two year old, she is usually a little bit of sunshine in anyone's day. N-- is our "princess"- in every sense of the word! We also count our sons as such blessings to our family. After N-- was born, S-- kept asking when we were going to have another baby and my response was always, "Mom and Dad don't plan to have any more". To which S-- would respond, "But what if it's God's plan?" Talk about the faith of a child! L-- may be one of the biggest gifts Noelle has ever gotten, as his activity level (and mischevious nature) is often the catalyst that gets N-- talking and moving.
This is the brief synopsis. Each member of our family will admit that at first this was difficult news for us. It was tough at first sharing the news with family and friends because she seems to be doing so well- she has made such gains (her development is not all that delayed) and is such a happy kid. Yet we now know that there is a genetic predisposition for certain behaviors. I think we have all come to an acceptance of her diagnosis, but there are occasionally days when it is still hard- because there are plans that we had made in our own minds for her future. However, we are clinging to the fact that God has a plan specifically for her. We ask that you keep N-- and the rest of us in your thoughts and prayers. We are so grateful for the love and support we have already received from day one with N--. And hopefully you will also be on the receiving end of the joy she gives us, as she runs around church, flashing that smile of hers and finding someone that she believes needs to join her in her explorations.
I enter this heading here in the hopes that another family will enter their story
To do so, click log in in the upper right and then start typing. You cannot do it incorrectly. Please share your story here and elsewhere so that we can all learn from you.
