PWS stories
Contents |
Dean
I can't believe that Dean is 9 months old! His birth feels so far away, yet still so near. I had a "normal" pregnancy with Dean, although I suspected all along that there was something different about this pregnancy. Compared to my pregnancy with our first son, Cole, I didn't feel much movement with Dean and my belly got HUGE. I was measuring more and more ahead at each appointment and so they sent me for twice weekly non-stress tests (NSTs) and growth ultrasounds. At 35 weeks, on April 28, 2009, I came in for an NST and did not pass. They sent me for an ultrasound to check my amniotic fluid and found that it was the highest our hospital had ever seen. That combined with the size of my belly from the fluid and resulting trouble breathing (for someone who was in shape!), they decided to do a c-section a few hours later. Dean was born at 2:33pm and cried like a little lamb when he was born. They brought him to the table to examine him and clean him off. I'll never forget when I looked over to the table and saw the neonatologist pick up Dean's arms and drop them to find a Moro reflex. Dean's arms just fell to the floor. I knew then that something was very, very wrong.
Dean slept almost all day and night, would not eat, had low blood sugar and his limbs were filled with my amniotic fluid. He was transferred to Children's Hospital in Boston for testing and to be seen by specialists. They put in an NG feeding tube since Dean still would not eat and they took a LOT of blood for tests. Some doctors gave us horrible predictions about Dean's prognosis, but then we met with a geneticist who told us he was almost 100% positive that Dean had Prader-Willi Syndrome. They sent off all the tests and sure enough, we found out on May 20 that Dean indeed had PWS. The diagnosis was both relieving because of what other things they initially thought it was and paralyzing. What would Dean's life be like? We had no clue where to go, but we dove in headfirst...
At 9 months, Dean is a JOY and the sweetest baby. He smiles and laughs, can roll over belly to back and *almost* back to belly! He is learning how to sit up and while he doesn't babble, he communicates in all sorts of ways, including some hilarious eyebrow movements. :) We are just head-over-heels in love with him. Dean had to get a G-tube at 7 weeks old because (despite what the doctors said about his low tone meaning he would leave it alone!) he got frustrated with the NG tube and kept pulling it out! Dean is taking almost all his feeds by mouth and so we are looking forward to getting the tube out soon. It is wonderful to watch Dean play with our older son, Cole, who is almost 2.5. They are great friends already!! Dean gets physical therapy 1-2 times a week, takes various supplements (CoQ10, fish oil, B12 (cyanocobalamin and methylcobalamin)), as well as growth hormone (since 11 weeks old) and Prevacid for reflux. He is doing so well, and it's amazing when even the docs who wrote him off in the beginning see him now! We are hopeful that Dean has a good life ahead of him - not one void of challenges, but he'll be ok. :)
Jayden
Today Jayden is 4 months old! His therapists feel he has come a long way and is beginning to do things an average four month old would do: he is preparing to roll over, is showing greater interest in the world around him and is reaching for and grasping objects. At his last weigh in, he was 75% height, 5% weight. We are adding extra formula and oil to his bottles to help with weight gain.
Milestones: Can smile and belly laugh as well as coo up a storm!! Raises head and torso when on tummy.
Read more at <www.hedstromfamily.org>
Ayden Jane
Written Feb. 2009
Ayden Jane was born 7 lbs. 1 oz. and 21 inch. long in Oct. of 2007. It was not a difficult pregnancy other than I was 42 and definitely more tired than with my other 3. At birth, Ayden Jane cried, although a bit weak, she attempted to nurse, although not well, and it was nearly 24 hours before we knew there was a big problem. By nearly 36 hours she was motionless and nonresponsive, although not in need of oxygen or help maintaining her temperature. She was tested for sepsis, placed on IV antibiotics and transferred to a hospital with a NICU.
There, as Ayden Jane lay motionless, but only supported by an NG tube (culture negative and tube feeds started) and monitors, they tested for lots of things we'd never heard of and didn't really want to imagine. The doctors came up empty handed and she began to wake up just enough to learn to eat. We headed home with no answers and a referral to Early Intervention.
We went to follow-ups and Ayden Jane seemed to be making progress so we just did our best to push forward and not worry too much. At 8mo. Ayden Jane had added weight, begun to sit independently and just did not seem so fragile anymore. I went to a geneticts follow-up feeling like we were on the road to recovery. I was sooooo wrong. Ayden Jane had basically stopped growing and her weight had skyrocketed (percentile wise) She was tested for pws/upd (she was previously tested for deletion) and I was sent home and told to do some research. Well, those initial google responses were NOT helpful, but reading stories on sites like this one gave me hope. I read everything I could find and went back 2 weeks later armed to provide Ayden Jane all I could. The geneticist was very behind in his knowledge of pws, but we brought him up to speed. Before we left we had bloodwork drawn, insurance paperwork started and an appointment with endocrinology for GH in two weeks. Prior to sharing the information we had with him, his comment about GH was, "oh, that comes much later on, in childhood." After our discussion, he told us to wait a moment and he would walk down to endocrinology and, "find someone to bail me out of this one. I should have caught this sooner." I find the doctors we have encountered along the way are well qualified brilliant people, but not necessarily the best in the field of pws. Don't be afraid to speak up.
Ayden Jane is now 16 months. Over the past 8 months we have watched her transform into an active, vocal, funny, opinionated, messy toddler. Yes, she crawls, walks, climbs, gets messy, belly laughs, yells for the fun of it, feeds herself, sleeps well and generally seems just like any other 16 month old.
She, of course, did not come by all of this without tremendous help. Here is a list of the things I believe helped her most.
-PT once a week since 5 months. -CoQ10 and fish oil since 8 months. -Diet: Basically grain free with lots of eggs/yogurt/flax meal/cottage cheese... in place of the cereals. Starting at about 8 months when diagnosed. -Carnitine fumarate and vitamins at 9 months. -Growth Hormone at about 10 months -Vitamin B-12 at 13 months.
I would have to say that, at this point, speech may be our biggest concern. She makes lots of noise, but articulation is poor. I can tell the difference between most of her 'words' but most people cannot. She picks up signing tremendously well, so to keep communication going we sign and talk. I about fell off the sofa laughing the other day as she and our PT had a full blown arguement in sign language! (Amazingly the PT won)
We are thrilled with how well Ayden Jane is doing, and are keenly aware that the challenges will continue. We try to enjoy the victories thoroughly and work hard to minimize her challenges. It is a balancing act. Ayden Jane is our very unexpected blessing in so many ways. We feel priveleged to be apart of her story and the community of people with pws.
Noelle
Written April 2005.
Noelle was born after a pretty uneventful pregnancy- that is, up until her movement and growth slowed to a virtual standstill for the last three weeks. They induced me on my due date due to low amniotic fluid. Noelle weighed 6 lbs 3 oz, 19.5 inches, and was the stereotypical "rag doll" presentation. No cry, no suck, no movement. She had a few incidents of having her temp drop, so we stayed in the hospital for 6 days. They fed her twice via a tube, but the rest of the time we labored over bottle and cup feedings. We actually got in to see our geneticist at two weeks of age. There had been some improvement, as he noted that Noelle's general muscle tone was reduced, but she was no longer floppy. He suggested PWS, based solely on the weak cry and muscle tone. We weren't able to get a blood draw because Noelle was so tiny (nowhere to get a good stick, and I wasn't willing to have a blood draw done from her scalp or neck- it just wasn't worth it to me). For the first month, Noelle took about 1.5 to 2 oz per feeding, every 3.5 hrs (con't to finish feedings by cup).
At two weeks, Noelle fussed in the night to be fed and started to put her fingers in her mouth to be fed. Noelle never demonstrated a rooting reflex. She also did not startle at loud noises- I sobbed the day an alarm went off nearby and Noelle never flinched. I did everything I could think of to keep her awake during feedings- strip her down, ice cubes on the soles of her feet, wet washcloth on the belly, holding her cheeks together to support the muscles, "squirting" in formula. At one month, she began rolling from back to front (but just couldn't finish getting her arm out of the way). At two months, she discovered her feet, and began moving her legs while sitting in seat and watching her feet. She also began pulling her legs up underneath her, and would turn her head from side to side when on her belly (but couldn't hold it up). LOTS of social smiles. Her lower extremities definitely began building strength before her upper body. We consulted with a neurologist during this month, at which time Noelle did not demonstrate reflexes in her lower extremities. A nerve conduction test was recommended, but couldn't be completed due to Noelle's screaming and flailing (go figure). At our pediatrician's recommendation, we increased the amount of calories in her formula, as her weight was only up to 7 lbs 14 oz. At two and a half months, Noelle truly cried for the first time (other than during the nerve conduction test). We began cereal feeding, which Noelle liked much better. She started to laugh and coo. She began scooting on her back using her legs (but not her upper body). It was a big moment the day she drank 5 oz at one feeding, with only one "squirt" from mommy. Early Intervention evaluation, with PT recommended. Three months, Noelle had her first fruit, applesauce. She began lifting her head up when on belly (which was tough for her, she would grunt and get angry). Started to reach for things, rolled front to back as well (still couldn't move that arm out of the way). Four months, at the recheck with neurologist, Noelle now had reflexes in lower extremities. Noelle dedicated in church. Five months, Noelle had no hair left on the back of her head due to the scooting on her back. She had long sideburns that reached her chin, but the back of her head was bald. Six months, could be placed to sit, stand with support, starting to lift legs to play with toes, lot of babbling. Said "mama" when looking at me; Aunt Steph and Grandma insisted they heard "hi" about the same time. Seven months, pediatrician's chart no longer read "Failure to Thrive", weight at 13 lbs 2 oz. Nine months, weight bearing on hands and knees (stationary, a little rocking in place). Sitting on her own. First tooth! Got knees underneath her and pushed forward on her belly; "discovered" chocolate (okay, I helped there- remember, no diagnosis at that point). Eleven months, crossed midline with small toys. Twelve months, said "bear", "bird", "I love"- have not heard since. Thirteen months, stood alone. "Army crawl" on elbows. Fourteen months, hands and knees crawling. Said "look" and "no more"- didn't hear again for six months. Fifteen months, walked independently. Switch to whole milk (we had been sneaking formula in everywhere possible- in her cereal, bottles, powder in her applesauce, but she just wasn't taking in enough). Rapid weight gain starts, goes from 20 to 33 pounds in six months. I know that many people have had different reactions to the 20/ 20 segment, but I heard my exact words coming out of Kate's parents mouths: "we were so happy when she finally started eating and gaining weight", so we fed Noelle anything she wanted. Twenty-two months, due to concern about rapid weight gain, after consult with pediatrician, reduced calories to 1,000 per day. Down to 2% milk from whole. Twenty-four months, revisit geneticist- Noelle between 5th and 10th%ile for height, well above 95th for weight. Twenty-five months, Speech evaluation, services recommended. Average receptive language skills, delay in expressive skills. Twenty-six months, received diagnosis. Joined PWSUSA and 0-5 webgroup. Twenty-eight months, tongue clip surgery. Started incorporating sign along with language therapy. Visited endocrinologist, discussed GH, but decided to wait on GH therapy at that time. Reduced to skim milk. Thirty months, cognitive eval- expressive language delays, average range on other subtests.
I do want to stress that no matter how close to "normal" some of Noelle's milestones are, they all took an incredible amount of work. Her PT really seemed to be helping her "burn" pathways for certain motor activities. Nothing just happened. We're now at 34 months. Noelle uses about 20-25 words, with some additional sign incorporated. She dances, climbs, can jump about 2 inches vertically, no concerns about fine motor skills. She loves to play house, especially taking care of her dolls- feeding, swaddling, changing diapers (when she holds her nose and waves her hands to says the baby smells, you can't help but laugh). She is between the 25th and 50th%ile for her height, and around the 90th for weight. I suspect that she is a little more interested in food than her same age peers, but nothing unmanageable- she knows the rules and gives us very little difficulty about them. She is strong-willed, but not rigid or compulsive in her behavior. I referred to her in the subject line as an "enigma". We have a methylization test indicative of PWS by deletion, consistent with her initial "rag doll" appearance, poor suck, expressive language and gross motor delays, and rapid weight gain. But right now we have a bright and energetic little girl whose growth seems to be accelerating, despite the fact that she is not on GH or any other supplements. Any manifestations of the PWS are pretty mild.
The grieving process for our family has been convoluted. The initial months after Noelle's birth were very difficult, then the pain started to ease as she started progressing. Then when we first received Noelle's diagnosis, we were heartbroken- you all know the feelings of loss. We had gone looking for answers again because our little girl had gained so much weight, and the diagnosis had confirmed our worst fears. After some reflection, the pain isn't quite as acute because I can see all of the strengths Noelle has- the grief isn't gone, but it doesn't seem as strong. But mixed with that is guilt- how can I feel bad when others were struggling with issues and delays so much more significant? I also waver between belief that she may always be a mild case and the fear that I am living in the "calm before the storm". "What if?" can be one of the scariest questions in the world. I know my own worries and struggles and can only marvel at what so many of you are able to give your little ones. Watching the 20/20 and Discovery Channel episodes of course heightens my anxiety level about the future. My solution to dealing with such fears, as many others have discussed, is to start being proactive (again). In my case, that means that in recent weeks I have written an IEP in my head for what Noelle may need. Too bad kindergarten is 2 years away, because I'm all set.
But, all things considered, Noelle is a joy. She brightens the day of anyone who comes in contact with her. As I have mentioned to others, I truly believe that God has a plan for her- I'm just not sure that His plan is the same as my original plan. The truest irony of the whole situation, though, is the fact that out of my three children- the only one who was a planned pregnancy is the one with PWS. I can only laugh about that!
Daniel
Daniel
Daniel was born on January 1, 2004 after a very difficult pregnancy. The doctors famous encouraging words to me throughout was "just be glad that your baby is perfectly healthy, it is just the pregnancy that is rough". Boy, did she eat those words. She said this because I was 39 at the time and had all of the prenatal tests and I actually have a letter from Hershey Medical Center that states, "the fetus has perfectly normal genes".
My husband and I have a 14 year old and a ten year old, I was scheduled for a tubal ligation when I found out that I was pregnant, OOPS!
Anyway, when he was born, he was very, very floppy and they rushed him to the NICU immediately. I really didn't think too much about it because he looked perfectly "normal" to me. He didn't need oxygen, he didn't cry, but they took him so fast that I just figured that I missed it. He was 5 pounds, 14 ounces at 37 weeks gestation. He looked perfect. I found myself sitting in the NICU with all of the moms whose babies were on all kinds of machines feeling very lucky for me and sorry for them. Then, at two days old, the Neurologist told us that he thought Daniel had a very rare genetic disorder called Spinal Muscular Atrophy. The world crashed because he told us that this disease has an average life span of 30 days. It took two weeks to find out. Suddenly, Daniel was actually the one with the biggest problem in the NICU and we were devastated. He looked soo perfect, it didn't seem possible that he might not make it. He still was not on any oxygen or anything. He was being mostly tube fed at that point, but was making some progress to bottle feeding.
Needless to say, the next two weeks were the hardest days of our lives and I thank God every day for answering our thousands of prayers with a negative test result!!!
So, they let us come home when Daniel was 3 weeks old, he had been taking all of his feeds by a Haberman Bottle for four full days by then. On February 10, 2004, we got the call that the second PWS test came back positive. Honestly, after what we had been through, I know it sounds crazy, but I was more relieved than anything at that moment because it definitely wasn't SMA and we now knew what we were dealing with so I could start doing more to help him.
At the time, I thought that this was very fortunate, we were able to see a geneticest at Johns Hopkins in Baltimore, the very next day. The devastation began that day, we were there with the genetic counselor and two geneticist for what seemed like an eternity and it was more than three hours. They told us that he would NEVER BE SELF-SUFFICIENT, NEVER HAVE CHILDREN, HE WOULD BE MENTALLY RETARDED, BLAH, BLAH, BLAH! We cried the whole way home with our perfect-looking five week old gorgeous baby boy. What kills me is that they didn't even mention growth hormone or therapies, it was awful!
Fortunately, I found the PWSA website and the President of the PA Chapter. She was a life line, telling me how much hope there truly is to change Daniel's future for the better. Also, another parent mentor called and she was AWESOME. The devastation turned to hope and the isolation turned into new friendships.
Daniel is almost 15 months old now, he is doing FABULOUS!! He sat up unassisted at 7 mos., he has been on growth hormone since he was 3.5 mos. He started crawling at 12 months and pulled to stand at the same time, he started cruising around the tables at 13 months and is now very close to walking, he takes three or four steps with his walker.
He says mama, dada, baba, lalala, singsongs, babbles and according to his speech therapist talks "jargon".
He is an absolute JOY and the very SWEETEST little person in the World. We now feel very Blessed to have him and know for a fact that he is meant to be here and we are meant to be his family which I know is a great honor.
Well, that is our story, so far, I really enjoyed reading everyone else's and I hope that more people join and write in because we all need to feel connected to each other in this strange new world of ours.
Sincerely,
Joyce Opp
Andrew
Written March 2005: Andrew is 4 1/2 now, very active, very lean, has no facination with food what so ever, is very coordinated, very alert, can throw a ball across the room and can run with the best of them. The only problem we are encountering is his speech still needs work .Andrew has been on Growth Hormone for over 4 years. The amont of Growth Hormone he recieves has not been increased for over a year and our Endo recently decreased the amount of GH he gets. This tells me that something else is helping his body produces its share of growth hormone. I feel that the prolonged and non interupted use of C0Q10 has paid huge dividends for Andrew. CoQ10's function in the body is to take the food we eat and convert it into energy. Energy that in turn drives every function in our bodies, including the production of growth Hormone. Why some of you have seen an increased desire for food when your kids were off of the C0Q10 for awhile is a direct correlation to their need for more energy to drive the bodies functions. Again this is my opinion, but I have living proof in Andrew, who by the way was at the very severe end of PWS when he was born as stated by our endo. Now I can't wait for little league baseball to start.
Justice Faith
Justice Faith Born 12-18-03 41 weeks induced labor very difficult labor and delivery sent to NICU on 12-20-03 sent home on 12-25-03 MERRY CHRISTMAS NG tube removed 3 days later bottle fed breast milk until 10 weeks at 10 weeks we started her on enfamil 24 (Liquid Gold) smiled at 1month started solids at 4 months homemade rice cereal fruits and veggies no preservatives laughed 3 months held head very steadily at 6mos rolled over 61/2 months sat at 7 mos waved bye bye and pat a cake 8mos on all fours 9mos If put in that position bearing weight 11 1/2 months took steps from one table to a couch 13 months walked across the floor with push toy on 3/2/05 began crawling 4/12/05 Started GH on 4/28/05 She can crawl up a flight of stairs and slide back down in record time Justice Faith is now 18 months old. She is able to walk 3-4 steps without falling can stand back up without holding onto anything. She is a good eater but does not show any signs of constant hunger. Justice Faith is a JOY in our lives she is goofy and loves to make her 4 older siblings laugh. She has them all wrapped around her finger. The only real "symtom" of PWS is her smaller hands and feet(which are in proportion to her body) and her low tone which is not that low anymore. Her PT and OT are so very impressed with her accomplishments. She is a very determined little girl that will not give up until she gets what she is after. She is currently seeing a PT 2x a week and a OT 1x a week She sees an Endo every 3 months an Ortho every 6 months a Geneticist 1x a year a Neuro every 6 mos and her ped. as needed Justice appears to be mildly impacted by her DX of PWS-UPD. current wt 19# 28.5" tall We do keep her on a very strict diet of organic fruits and veggies and no processed sugars or flours.
Lilly
From Lilly's mom: My mother has Myasthenia Gravis – a muscle disease characterized by fatigue and weakness. I am a physical therapist. I have NEVER in my adult life taken health and strength for granted. The fact that I can rise from a chair with ease, or always raise my arms over my head without pain, is a gift for which I am constantly grateful.
When my Betsy was born, she was so perfect and healthy and beautiful I was enthralled. Everything she has ever attempted, she has quickly mastered with ease and grace. Life was so uncomplicated then. I never stopped thanking God that she had it so good.
Then Lilly came. Just as much a blessing to us as her big sister, she still lives in a different world where everything is difficult for her. But Lilly has a heart full of joy, and she is ready to share it with everyone who will let her. She gives hugs that move grown men to tears, and I often wonder how I could be so fortunate as to be the mother of this incredible child.
Every mother tries not to compare, but there is reality. Betsy bops around the house, singing and dancing, leaping like a ballerina, (sort of) while Lilly sits quietly, cuddling her doll because (until recently) she can’t stand up. My heart rejoices for one, and weeps for the other. I know that life will not always be easy for the one child, and the other will find her strengths. So we focus on the positive possibilities. Even though we work hard, we make it fun. We laugh and play and treasure the many blessings, big and small, that come our way each day.
By the way, we often play a little game in which I ask my girls what they are thankful for. The answer is usually family members, home, friends, etc. Lilly, who is 3, is barely able to do this. But one day she sprung a new answer on us saying she was thankful for Chocolate! No doubt – that’s my girl!!!
Kathryn
Re: Milestones, I'm sorry I haven't posted Kathryn's but honestly I didn't keep track of specifics. Before K was born, my mom gave me this neat baby book. As my due date came near, I'd write stuff in it. I took the book to the hospital on my induction date and after K was born (a day later via c-section), I opened the book to make an entry and the page read: "How I felt on the day you were born...." How could I write - horrified, scared out of my mind, uncontrollably sad? I couldn't start a baby book like that and I couldn't just skip the page, so I didn't keep track. Generally here goes:
EI 2 months coq10 2 months Private PT 3 months (2 times per week)(this PT ended when walking was down) GH 5 1/2 months Babbling 5-6 months Rolling 7 months Signing (more, eat, banana, dog) 8 months Sitting 9 months Pulling to stand 10-11 months "Dada", "Elmo" (accidental) 11 months Cruising 11 months More words Walking 16 months Virtually no words or signing from 16 to 19 months Jumping 2.5 years Preschool 3 years Hunger starting to kick in 3 years Talking back with attitude 3 years Stuttering 3 years (here for 1 month and now back again) Potty trained 3.5 years
More on Kathryn
Written June 2009
My daughter Kathryn will be 8 at the end of June. She just finished first grade at St. Helen School here in Dayton. She was one of the top students in her class with no aid or therapies other than speech. Her handwriting is very good, she's great at math and reading and is very creative. In retrospect, I wish I hadn't held her back in kindergarden, but she seems fine with it.
She played basketball at school this winter and was the best defender on the court (being the tallest was clearly a plus, good olde GH). During the final game of the season, she stole the ball from another little girl, dribbled down the court and made a fast break. The other coach was smiling annoyedly saying "there are no fast breaks, there are no fast breaks." I just stood on the sideline and tried not to bawl like a baby since when she was born I never thought she'd walk or talk, let alone figure out how to make a fast break.
Kathryn has pws by deletion. She was dxd at 2 months. I do think finding out at this young age was a big help to us since it allowed us to plan how we would deal with all sorts of issues before too much time went by. It also allowed me to find other parents to get advice about what has helped them with their kids. I attribute a lot of what we did with Kathryn early on to what Carol Craig and Rachel Tugen (among several others) told me they were doing with their kids.
Kathryn started GH at 5 months. Her dosage has always been on the small side. Right now she gets .6 mgs per day (she's almost 8, weighs 80 lbs and is 52 inches tall). From ages 5 to 6 she was on .8 for that one year, but then the endo cut her back to .4 due to high-normal IGF levels. We only just got it bumped back up to .6. As an infant, Kathryn's tone was low, but towards the higher side. She never was tube-fed. She had very intensive PT ages 6 to 18 months. She walked between 15 and 17 months (terrible that I cannot remember). After 18 months, we just pushed her to be very active, lots of walks, going down the stairs face-first (to work her trunk - the PT recommended this :), gymnastics classes (she was horrible, but she had a great time).
She got ST once a month (only) ages 6 months to 3 years. When she was 3 she enrolled in our local school system where we had some great teachers and therapists. She attended a daycare/school near our house, and then rode the bus to her county school system for her therapies. At this preschool, she got private ST twice per week (4 day preschool), APE twice per week and OT once a week. When she was 4 we added private ST on top of this. Our ST used a program called TalkTools which helped Kathryn with some jaw alignment issues that frankly, we were unaware she had. We stopped private ST when she turned 6 and now she just gets it twice a week for 20 minutes at her current school. Oh, also when she was 5, the preschool added in more OT. We worked a lot with hand strenghtening. We practiced writing and cutting a lot and still do.
Kathryn was in part time daycare or school from 6 months to 4 years. When she turned 4 she was in daycare/school full time due to the fact that my job changed and I could no longer work part time. I think K's being in school has been a huge help for her. As a little kid since she was very motivated by her peers. (She's a rather competative girl.) It also helped me since I worried so much the first 6 months of her life waiting for things to happen that I would have been a basket case had I stayed home with her all the time.
So far, Kathryn does not food seek. She does, however, gain weight easily so we have to be very careful with her diet. We have a lock on our pantry and one for our fridge, but we don't use them yet. Kathryn is extremely allergic to cashews and tree nuts, so we talk with her a lot about not eating foods from other people due to this problem.
School lunches and treats: My kids' school gives the only 15 minutes per class for the children to eat before they chase them outside for recess. I pack Kathryn's lunch most days and she loves what I pack so that's what she eats. She's kind of a slow eater, so what she can't finish during her 15 minute lunch, she gets to eat when she gets to our friends' house after school. I volunteer at the lunch room every other Friday so I know the ladies who work there and most of the kids. I have told everyone not to share with her, but I know it happens. I let Kathryn buy lunch every so often and although the food isn't considerably healthy, they don't get a lot so that's good. :). So far we are lucky that this works for us right now. Re: treats in the classroom, the teacher and I discuss what treat will be given and then I modify Kathryn's diet accordingly.
Supplements: Right now Kathryn gets GH, coenzyme q-10 (cytomed - 120 mgs per day I think), b-12, coromega, a kids multivitamin, calcium and vit. D, zinc, elderberry, melatonin, allegra and singular.
Negatives: Kathryn picks her fingers badly at times and we cannot get her to stop. We've tried brushing, we do massage, we nag her to stop and bandaid up every finger. It isn't awful right now, but it is such a nuisance. She also picks her lips which drives me batty. We constantly tell her to put on lip balm but she always forgets.
She sometimes gets in the mode where she'll say something and she repeats it until you repeat it back to her. Also, her voice is very monitone. I don't know why this bothers me so much, but it does. And there's nothing she can do about it. She is an AWFUL singer, but I love that she even tries.
Behaviorally, she can get upset over really odd things and then she will stay upset a long time. I don't get that. This doesn't happen very often, but when it does it is hard to deal with. Otherwise, she's a delight to be around and with.
She will always choose the more sedentary option of activity (sitting and reading a book v. swimming or going outside to ride her bike or play). But I think that's just because it is harder for her to run around the back yard than it is for her sister. As I mentioned before, Kathryn gains weight easily. We are ok on weight at this point since she's extremely tall. It was a long cold winter in Ohio (my husband was deployed all winter so I feel really guilty about not being more active), so we've been trying to be more active this summer. So far, we're doing pretty well. Yay.
Back to the positives, Kathryn is great at board games, dominoes, computer games (Webkinz rocks), DS games - especially those that involve patterns, and art (although her figure drawing, esp. the hair, sucks). I think a lot of her success has to do with the fact that we expect her to and make her try things just like any other kid. My husband is extremely intelligent (although pragmatically he's "challenged") and I think that has helped Kathryn. I'm fairly smart too (not that you can tell, smart mouthed, yes, smart, not so much). Greg and I have worked extremely hard with her to get her where she is, but I think too that we are just lucky that she is doing so well right now. I realize that isn't very helpful using that term "lucky," but I don't know how else to explain it. We've been lucky with teachers and doctors and the extent of her pws symptoms. I am not naive and am very practical and know things can and probably will change. But at this point, I feel so blessed, and she is a great daughter.
Erin
Erin is five years old in February 2005
Erin's milestones:
Born 12/10/99 1 week late by c-section 7 lb. 4 oz. 20.5" Apgar 8/9 with low tone did not nurse but took a bottle in hospital went home 2 days old tested negative for Turner's Syndrome diagnosed at 6 months with PWS microdeletion smiled 6 weeks rolled over 5 months sat unassisted & waved bye-bye 9 months started teaching her sign language said mama dada and night-night at 12 months started signing back to us 12 months started CoQ10 13 months commando crawled at 13 months weight bearing on legs 15 months crawled on knees 18 months started GH 20 months walked 2nd birthday potty trained by 3rd birthday potty trained at night 3 months later started regular preschool at 3 continues at regular preschool at our parish writes her name Erin receives private speech therapy and will start kindergarten next fall
Erin T
Fall 2005, Erin is 9. This was written by Erin's mom on the mother's birthday:
Today was my birthday, and it's one of those one in seven lucky years when it falls on a Saturday. I love that! I make a point of doing things on my birthday that I have never done before so I began the day with a plan. First on my list was one of those things that I have done many times, though, Erin's soccer game, also soccer picture day. When the game began, she was put with a team where she was the only girl and the boys were all at least two heads taller and twice as big as is so I didn't know how this was going to go. I saw her go talk to the coach at the start of the game and figured she was talking strategy about how to bring those boys down!
Erin's not an aggressive player. In fact, she has been known to go to great lengths to avoid having to actually kick the ball. She has fun, enjoys the conversations, and loves the idea of soccer, but, given the choice, will be energy efficient. :) Well, today, she started off strong and played hard the whole game. IT's a TOPS team so they have mentors to help them develop skills and her mentor couldn't believe how hard she was working. Before the game was over, she had scored three times and was so happy. Of course, I was hoarse from cheering! The coach came over to the bench where I was and said, "Rachel, Do you know what Erin said before we started the game today?" I figured it was about making mincemeat of the males, but she said, "Erin said she was going to play hard today because she wanted to make a goal for you on your birthday. She said it would make you so happy."
I'm sure you can figure out what happened then. :)
Just had to write this down and keeping it to myself didn't seem like an option. I often set goals for my birthday. I'm going to do this or that by my birthday, finish projects, get caught up, etc. But today, I finally got a goal for my birthday, the best one ever!
AJ
8 1/2 months old in February 2005. 25 lbs 12 ounces at that time
Our son AJ was born 7lbs, scheduled C-section (full term) due to him being breech NICU for the first 5 days (waiting for diagnosis) Bottle fed held head up at 3 months smiled at 2 months CoQ10 at 3 months rolled at 4 months sat alone 5 months begin to babble 5 months, and hasn't slowed down since!! ( mamma, dadda...Boooo(when he is really upset) waved "bye-bye" & clapped hands 9 months at 8 1/2 months can bear weight on legs with help, because he is 25lbs 12oz. Shares everything he has, food, toys etc.
Ryan J.
13 months old in February 2005.
Date: 1/5/2004 C-Section Weight: 3 lbs 9 1/2 oz Length: 17 1/4 in. Gestational Age: 33 wks NICU for almost 2 months Surgeries prior to coming home: G-Tube/Fundoplication Feeding: Has never taken a bottle, g-tube fed takes some baby food Nutrition: Expressed Breastmilk for 7 months, Neosure, now on generic Pediasure Diagnosed March of 2004 Prader Willi (FISH) shows deletion at 15q11.2-12
- GH therapy started 12/8/2004
Discharge Date at NICU: 2/25/2004> Appointments: Surgeries since home: An unsucessful tonsillectomy resulting in a punctured lung/ICU, a sucessful tonsillectomy. Soon to have ear tubes and testes brought down. Milestones: Smiled-2-3 months Held and shook rattle- 6 months Laughed- 7 months....didn't laugh again until 9 months Bat at toys- 7 months Rolled to sides: 4-5 months Play pat-a-cake: 10 months Sitting supported: 12-13 months Bearing weight on legs (while being held for VERY short periods of time)12 months Starting to play peek a boo at 13 months Still wants NOTHING to do with putting weight on arms/hands.
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) http://www.rlandlr.com/ 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.
Updated 8/12/05 Luke will be 3 y/o on Wednesday AUgust 24th. Right now he is no longer speech delayed or cognitively delayed. He was evalutated by his Eip program and they assessed his muscle tone to be the low end of the normal range. In my opinion, he is still a little awkward not wobbly anymore but not gracful or fluid in his movements. I hope as time progresses he will improve, but if he doesn't he is still so much better than I had ever imagine he would be physically considering how severely hypotonic he presented. But he does walk nicely and run too. He needs some assistance going up and down stairs. He also is 'scrappy' with the rest of them and will stand up for his toy and not back down or give in with a peer. He is not passive. His speech is now involving pronouns and verbs in tenses and he has the ability to ask wh questions. He speaks in sentences and clearly. His favorite topics to talk about are Scooby doo and their mysteries, Peter Cotton tail and he like nursery songs. His favorite book to 'read' is Brown Bear Brown Bear. HE also like to clean and mop. After breakfast every morning I leave the mop out for him and he 'cleans' the kitchen. It is a little help actually.
He likes to imitate and has taken up 'cooking' with me during dinner. I give him a few mixing bowls and utensils with some unedible food like a empty salt shaker. He mixes it up and then goes on to his next activity.
As soon as I worry or get that sinking feeling about something, he unknowingly lifts me up out of it with reassuring me by doing a little something that most mothers take forgranted but I never will anymore.
Luke is 3 years and 3 months (Nov 2005) Currently he is doing fine. He has helped me to wean his younger brother off the breast. He'd bring him a sippy cup as the baby refused it from me. He is now able to jump. He goes for gymnastics. He also swims 2 x a week.
On Saturday mornings he goes for religious education. His tutor told me he is able to recognize words. He recognized 5 words. He also has begun to 'read' books. I read his brother a book over and over and he will listen and memorize the simple one sentence a page books.
As of January 2006. We watched Luke very carefully over the holidays. We did limit some of the parties he did go to. We excluded 2 that are known for lots of junk food. We did not have a weight gain. He was on a diet sort of more than usual so he could have a full experience at family get togethers.
As ofn the 1st week of january Luke is swimming independently. He is now working on his strokes to get them more functional. In shallow water he does great and can be independent with supervision. He has learned how to do sumersaults(sp?) and has taught his little brother.
He also plays on the big kid slides. He had a 12 foot fall and I have not idea how he survived without a scratch. Ofcourse without fear we will be back to the playground. Me however, I am terrified.'.
Also right now, Luke is 'pregnant' He is having a baby girl as he tells me and the baby kicks him alot. I told him he was always an angel, he never kicked me when he was in my belly:)
We go to the supermarket alot together and we shop for fat free and sugar free items and he asks me if the things he eats are fat free or sugar free. He sort of brags about it. I try my hardest to make his life and ours as normal as is possible but ofcourse it is the hardest thing to do.
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
PWSMom
Info on my son's development is at User:PWSMom.
Websites of Other Kids with PWS
http://www.geocities.com/sophiepearlmoline
http://www.babysites.com/sites/arnold/default.asp?page=home
