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Daniel Opp | Daniel Opp | ||
Revision as of 22:27, 3 April 2005
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Daniel
Daniel Opp
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, 2005, 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 Rickenbach 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
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
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
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) 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
PWSMom
Info on my son's development is at User:PWSMom.
Websites of Other PWS Kids
http://www.geocities.com/sophiepearlmoline
