Difference between revisions of "User:PWSMom"

Revision as of 11:46, 24 February 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.

Gabriel

7 months in February 2005 Current Weight: 8.36 kg / 18 lbs 39 oz; 50th percentile Current Length: 26 1/2 inches; 50th percentile

Birth

    Date: 07/02/2004
    Weight: 2.670 kg;  5th percentile 
    Length: 52.0cm; 50th percentile
    HC: 35.0cm
    Gestational Age: 40 wks
    APGARS: 8 at 1 minute and 9 at 5 minutes 

NICU Admission

    Date: 07/05/2004
    Admission Indications: hypotonia, clinical sepsis and undescended testicle
    Feeding: Baby was fed po and had chocking episode and turned blue. Feeding was changed to NGT.  PO feeding by speech therapist only.  
    Nutrition: Expressed Breastmilk for 38 days then switched to formula (Enfamil Lipil with ron)   
    Diagnosed at 07/16/2004 Prader Willi (FISH) shows deletion chromosome 15 at q11,12
    **GH therapy started 07/29/2004
    Discharge Date at NICU: 08/09/2004

Appointments: Developmental Clinic (every 3mos), Home Health Nursing (as requested), Pediatric Endocrinology (every 3 mos), Pediatrician (every 2 wks for weight check and every 3 mos for immunizations and check-ups), Speech Therapist (once a week for 1 hr through EIP), Physical Therapy (twice a wk for 1hr through EIP), Occupational Therapy (once a wk for 1 hr through EIP), Pediatric Pulmunologist (consulted for possible aspiration and breathing problems ...had a swallow study...results showed that 1out of 3 trials he aspirated on thin liquids only... plan is to use "thick it" on formula in a honey consistency 'til further notice and chest x-ray showed that lungs were clear...follow-up every 4-5wks), Pediatric Gastroenterologist (consulted for possible reflux...now on zantac...follow-up every 6wks), Pediatric ENT(consulted for congestion and noisy breathing...found out that Gabe has enlarged adenoids...was on Amoxicillin and Flonace for 10days...did not do him any good... still congested and will follow-up every 5wks) Milestones: First Month:  ???? mostly asleep Second Month: more awake; focus on a face; follow an object from Left to Right about 6 inches above face; was able to suck from a bottle( takes a lot of patience) Third Month: turn in the direction of a voice; smile spontaneously; on stomach,lift head 45 degrees; follow an object from left-right and up,down and around Fourth Month: bring both hands together;grasp a rattle; reach for an object Fifth Month: hold head steady when upright;introduced sippy cup, introduced rice cereal Sixth Month: on stomach, raise chest, supported by elbows,lift head up 90 degrees; keep head level with body when pulled to sitting; sit in a "frog" position; sit upright propped with pillows; introduced fruits and vegetables Seventh Month: holds sippy cup by himself; feeds himself if he feels like it; shakes his head no no if he's full or pulls away sippy cup/spoon when he's had enough;roll over (one way); laugh out loud; bear some weight on legs when held upright(about 5secs); loves his bouncer; loves to watch TV (esp. Nick JR)object if you try to take a toy away; work to get a toy out of reach;pass a cube or other object from one hand to the other;play peekaboo; knows his name;wave bye-bye; babble such as mmmm,dadada, mahmm when eating or playing; bear some weight on hands/arms when on stomach...and more to come.

Christian

15 months in February 2005

Born at 39 weeks 4 lbs 12 oz apgar 7 & 9 NICU for 2 1/2 weeks n tube & bottle fed in NICU every other feeding for 2 weeks Bottle fed from then on..( a little difficult and a lot of work) smiled at about 11 weeks good head control at 4 months belly laugh at 4 1/2 months dx at 5 months coq10 at 5months some rolling at 6 months (does it when he feels like it) babbled at 6 months sat up at 7 months assisted sat up unassisted by 8 or 9 months claps hands, waves bye, shakes his head no no etc, at 9 months struggled to do tummy time all along (we still have a hard time with this) signs to eat, play, bye, mama, and all done will rock back and forth on hands and knees (still need a lot of work there) very funny, sweet and a pure joy to be around all the time, he is always smiling at everyone he sees and will also go to anyone even strangers (yikes) Just started GH yesterday...(after a very long struggle with our old doctor and had to get a new one)....He turned 15 months on Feb 17th....He is also weight bearing on his legs and definitly prefers to stand than be in a crawl position....He is the happiest little guy I know....

Austin

Born in 2001 at 35 weeks weighing in at 5 lbs even and 18.5 inches via emergency C-section His present weight at 40 months is 31 lbs and 38+ inches. NICU for 2 weeks (minimal oxygen needed and none at home) Tube (NG) for 5 months --this was the most frustrating!!! first smile 2 months laughed out loud (brief moments) 4 months first tooth 8 months and came quickly after that one after the other rolled over unassisted at 8 months (both ways) sat up assisted at 8 months sat unassisted at 10 months sit from a crawl at 11 months commando crawl 11 months-full blown crawl at 12 months wave bye bye 7 months started to cruise at 13 months FOREVER AND EVER AND EVER walking assisted 15 months walking unassisted 17 months and wobbly! this unsteadiness seemed to last a LONG time with lots of bumps and bruises first word "Adam" at 10 months Speech is still delayed but can use 6-7 word sentences when trying ...but still lots of jargon can count to 10 at 40 months YEAH but no alphabet toilet training is a nightmare! He stays dry MOST of the time (except at night) and BM's will never happen! I have no idea of his cognitive ability right now...but I do think he is at least 6-12 months delayed...that is MY opinion and as objective as I think I can be. We have him in a contained preschool with tons of OT and ST. He also gets outside OT every other week and ST every other week on opposite weeks. Hope to start up HIPPO therapy in the spring (he loved it so much and was such a help with trunk control) And swimming starts in a few weeks. He can run, jump, climb, hop off the ground with both feet and is a trip to watch try to skip! He falls more than the average kid and makes me a nervous wreck!!!! We sit in the wings and watch and wait for scoliosis...will he or wont' he? We wait for the food issues/weight issues...but I dont' let it run our lives! We try to be a very functional family.

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.

Ryan

Turned one in February 2005

Born at 38 weeks....5 lbs 10 oz

Stayed in NICU approximately 3 1/2 weeks - never tube fed after coming home, but we came close..really struggled with the bottle feeding until after growth hormone started. Received OT while in NICU.

Started PT and DT at 2 months - once per week.

Started OT at 3 1/2 months - once per week.

Started growth hormone at 3 1/2 months

Head up about 4 months (not really sure on this one)

Started solids at 6 months

Discovered toes at 6 1/2 months

Sat up unassisted at 7 1/2 months

Rolled over just before 9 months (yes, he was sitting well long before he rolled)

Started babbling just before 9 months

Started cutting teeth (3 came in within about 2 weeks) at 9 1/2 months

Rolling as form of mobility at 10 1/2 months

Clapped hands at 11 months

Minimal, very brief, weight bearing with support at around 11 months

Currently, at 12 months getting stronger everyday pushing up on arms...pre crawling activity..and I can see the beginning of getting up on knees emerging.

Fed Breast milk with formula added to boost calories (started adding formula at 6 weeks) until 12 months..now weaning off breast milk to regular formula...nutritionist recommended waiting until 15 months to introduce dairy products. (Yes, I am still pumping....but not for much longer :-) ...just winding down now

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.

Websites of Other PWS Kids

http://www.geocities.com/sophiepearlmoline

http://www3.caringbridge.org/wi/nolananders/