My beautiful girl
just turned 9 years old this year and it seems nothing short of a miracle. At 2
days of age, Gwen became catastrophically ill, her body temperature dropped
below 90 degrees, ammonia level exceeded 1,500 umol/L and she stopped
breathing. She was placed on a ventilator and received peritoneal dialysis for
a couple of days until she came out of her coma and was breathing on her own.
On her 3rd day she was diagnosed Propionic Acidemia and her future was very
uncertain. During Gwen’s first 3 years of life she spent as much time in the
hospital as she did at home.
been admitted more than 50 times, she's undoubtedly one of the happiest people
on Earth. At age 1 she stopped eating by mouth, and since then she's been fed
100% by a feeding tube because she refuses to eat anything. For many years she
wore a backpack to carry her feeding pump, but she is now able to tolerate her
formula through small bolus feedings and has a nurse who cares for her during
Gwen knows she's very cute and she plays that to her advantage. What she
does not yet know is that she's very brave, has an endless capacity to forgive,
an amazing will to live, and a beautiful spirit from God that has touched the
lives of hundreds.
July 2015 My beautiful girl
just turned 9 years old this year and it seems nothing short of a miracle.
She talks non-stop, sings the entire time we’re in the car, jumps off of
anything she can climb on, loves to dance, play with her American Girl dolls
and spend time with her brother and friends. She’s in third grade and receives
special education services for PT, OT, math and reading. She’s also in Brownies
and on the Special Olympics swim team! She is a miracle, a daily blessing, and
a ray of sunshine in any room. I am grateful for every day I have with her and
so proud to be her mom.
August 22, 2012 Gwen is in the hospital today after her cold symptoms turned into flu symptoms within 12 hours. She had vomiting and fatigue all day Wednesday which led to her trip to the ER. She was given Zofran for nausea, but her vomiting continued. Last night she was admitted for dehydration and continued gagging and vomiting. Ammonia this morning was elevated to 100 uml/dl and has remained high all day. She will have to remain npo (without food) until ammonia normalizes and vomiting stops.
July 25, 2012 Gwen turned 6 years old this February
and no one can believe how well she’s doing. She’s a super happy and out-going
little girl. It’s simply incredible to see her learn and grow. She took a
ballet/jazz dance class last school year and really loved it! This summer we’ve
been working on swimming. She’s been enrolled in lessons all summer and is
finally comfortable in the water, but has absolutely no swimming ability. She
loves playing outside riding her bike, going to the zoo, playing with friends;
but it’s been way too hot most of the summer. As a result, she is spending most
of her time at home which is not her preference. This fall she will start Kindergarten
and she can’t wait.
She’s been taking small sips of water through a straw,
but still has no interest in eating. Most days when she’s feeling well we are
able to feed her through g-tube 4 times a day and she gets the rest of her food
by feeding pump overnight. She’s expressed some interest in potty
training during the night, but it’s really difficult for her because she’s
hooked up the pump and receives over 500mls throughout the night. We put a
toddler potty by her bed and she uses that most nights. You never know what
you’ll find in that potty. LOL!
Her health has been
very steady most days and she hasn’t had an overnight hospitalization since Dec
2010! We still have to hold her back
from things most kids do, but she has such a sweet and loving heart that she
seems to be perfectly fine with her limitations and the boundaries we set for
her. This summer her brother got to go on 3 vacations, while Gwen had to stay
home. She kept telling me that she hoped Robbie was having a great time and
couldn’t wait for him to come home. Would she like to go to the beach or play
sports? OH YES! But Mom and Dad aren’t quite ready for that challenge.
July 12, 2011 It's been several months since the last update, mostly because Gwen's been doing so well! She's finally reached a plateau where we have a fighting chance of keeping her diet & medications in line with her body's unprecedented needs. She currently has 3 nurses who care for her during the week & she keeps them busy! Gwen receives approximately 15 doses of medications & 4 bolus feedings on a typical day. She doesn't understand the limits of her body, so she typically runs until she crashes (literally!) It's been simply amazing to watch her turn into a young girl this year.
I hesitate to brag, but she's not been hospitalized for illness in 2011! We've been treating first signs of illnesses with the new drug, Carbaglu. This drug was recently approved for treatment in NAGS deficiency, but off label for treatment of PA. So, last week Gwen participated in a Carbaglu drug trial at Rainbow Babies Hospital in Cleveland. Gwen & her mom trotted off for a 5 day vacation along with Allison & her mom. The intent of the study was to test children with PA & monitor blood ammonia & urea cycle functionality for 4 days during a period of wellness. It's very difficult for Gwen to travel, so this was an ideal vacation situation where we already had hospital & hotel accommodations all wrapped up in one! We're still waiting for results from the study.
December 31, 2010 Gwen is doing very well & enjoying another year of preschool. She loves school so much. In fact, she memorized every child's name in her class within the first few weeks. Her potty training is complete for now! We no longer even consider pull-ups during the day. In fact, she talks about bathrooms & potties whenever she can fit it into a conversation. She's still fed by pump at night, so we'll work on overnight potty training in a few years.
She was hospitalized earlier this fall for mild metabolic illness. Her most recent hospitalization was December 2010, when she admitted for 10 days due to respiratory distress (& complications caused by a common virus.) We recently began using a new medication (Carbaglu), that's just been FDA approved, which helps lower blood ammonia levels. I am very hopeful this could help us treat an illness at home before she requires hospitalization.
December 12, 2010 This was a tragic day for all of us. Gwen's granddad suddenly passed away during a time when Gwen was in the hospital. She keeps asking where he is, but quickly answers her own question, stating "he's in Heaven."
August 12, 2010: Gwen has had a awesome summer! She's felt great the majority of the time, thanks in part to several new experimental medications & supplements. Her energy level & stamina seem much better. She's been swimming several times & has really come to love it. She took level 1 swimming lessons, toddler dance classes through Ballet Met, & is a 'regular' at the New Albany public library. She's also had friends over to play on her waterslide. Most importantly, she's beginning to have a normal sibling relationship with her brother : ) Last month he chased her around the house with a rubber spider & she screamed until she was hoarse.
She's made a huge breakthrough with potty training! As of late June, she began telling us when she needs to go. Also this summer, we've been able to gradually change Gwen's feeding schedule from continuous to gravity bolus feedings. She's now tolerating up to 180ml within an hour 4x daily. At night, she's still on continuous drip 60ml/hour. July 5, Gwen tasted stage 1 sweet potatoes & said she liked them! She probably ate about 5 ml by mouth(over 30 minutes.) It only happened 1 time, but that was a major achievement! Now that her feeding schedule allows time for her stomach to empty, maybe she'll show more interest in eating solids (baby food.)
Last month, while fighting a mild respiratory virus, Gwen took a ride on her bike. When she returned from the ride, I noticed she couldn't catch her breath. After 30 minutes with high respirations, I heard wheezing. With a family history of asthma, I knew she could be in trouble. She was diagnosed with Reactive Airway disease, she would have to start albuterol treatments. Two days later her respirations & heart rate were back to normal & she was discharged. She's now on Singulair & hasn't had an episode since.
We have just returned from an annual family conference for Propionic Acidemia. This year the event was at Chicago Memorial Children's Hospital. We had a great time visiting with other PA families & hanging out by the hotel pool. It's amazing to spend time with people who understand life with PA. Unfortunately, Gwen started to become ill on Saturday. After a night of rest in the hotel, we started for home Sunday morning. We made it as far as Munster, IN before having to stop at a community hospital emergency room. Gwen was lethargic, dehydrated, & elevated ammonia, moderate ketones, & low white blood cell count. That evening she was transported to Riley Children's Hospital in Indianapolis, where she spent 2 days before heading to Nationwide Children's in Columbus. She was discharged last night & doing well today.
Med reference: New meds started
June 14- new formula recipe
June 17- restart Neomycin every other week (to keep her proprionate level under better control, with the hope to increase appetite)
June 25 Albuterol (bronchodilator)
June 29- leukotriene inhibitor, Singulair. 4mg oral granules 1x/daily (prevent airway restriction)
July 6- Ferrous Sulfate (liquid iron) and Vitamin C- to enhance iron absorption (note: give on empty stomach- iron and calcium compete for the same absorption sites.)
May 10, 2010- Since my last update, Gwen’s been through 2 more hospitalizations. I feel it’s safe to say we have made it through the end of virus season & home free for summer! She returned to school last week & is almost 100% back to normal. We met with her preschool teacher yesterday & she was so excited to report the progress Gwen’s made this year. Gwen can easily identify all her letters & numbers (up to 10) & has started to play interactively with friends in her class. This is a huge milestone for her! Still, she has a lot of work ahead to catch up to age appropriate behavior. Going into summer, we are looking into special camps & programs to keep her socially active with kids her age.
There are many new changes in the works... Gwen had 2 new IP homecare nurses start working with her last week. They are both wonderful & we are very excited to have them as part of Team Gwen. We are starting a new care plan this week with the hope that Gwen will eventually tolerate solid foods through her g-tube. It’s been over 3 years since Gwen’s taken a bite of food, but we’re still hopeful that day will come again.
Med reference: New meds started last week-Citra (sodium citrate); & started this week- riboflavin (B2), Cyto-Q Max, & erythromycin. DC/Hold- Prevacid, neomycin, & Senna.
Hospitalization summary: Admitted with high fever, small ketones, excessive vomiting- March 22-24 & March 25-27. Negative common viral results, positive UTI.
Admitted with low fever, moderate ketones, diarrhea, vomiting- April 23-25 & April 29-May 1. Illness likely caused by a virus at school & in the neighborhood. Robbie was sick only 1 night.
March 3, 2010- We celebrated Gwen's 4th birthday on Feb 3! She had a small tea party with some of her neighbor friends & a big family party the following weekend. Many family members chipped in to get her a new purple bicycle, which she loves. She rode it to a party at our neighbor's house (about 100 yards on a snowy street) without any help! Watch out for her this summer!
Gwen woke up Sunday Feb 21 vomiting clear fluids several times, but seemed fine otherwise. We headed to Pomeroy for her cousin's birthday party, but no sooner did we arrive that she started vomiting formula & spilling large ketones. We rushed to Children's where she spent the next 5 days recovering from high ammonia (87 in ER, then 137 the following morning), then cough & fever (which started Tuesday). She didn't test positive for any common virus, but did test positive for a UTI. We were able to treat this infection at home with a 7 day course of Bactrim (she had previously not tolerated), which has caused her to have diarrhea. However, Gwen is doing well with potty training (at least with #2), so diaper rash has not been an issue this time!
Gwen returned to preschool on March 1. She's about 80% recovered from the cough & cold, but we're still not able to increase her formula rate without her getting sick, so she's on 24 hour continuous feedings. Spring is just around the corner & we can't wait!
January 27, 2010- After a very long period of wellness, the virus season took a toll on Gwen. Until this month, she hadn't been inpatient at Children's since April 2009. I believe that beats her previous record (time between hospitalizations) by 6 months! She started showing cold symptoms on Jan 14, but not a big deal. By Saturday she was coughing a lot. Sunday, she started vomiting. Monday, she slept all day, was vomiting, & her cough was nearly non-stop & very dry. We headed to the ER that afternoon & her temp was 101. She was admitted, and by early the next morning her fever was 104.1, respirations as high as 60/minute, coughing was constant, vomiting several times per day, & severe diarrhea. At this point she tested positive for RSV. By Thursday she was looking better, but still too tired to get out of bed. She was discharged Friday afternoon, then slept all weekend & was still vomiting. Today is the first day she's been wanted to play with her toys, so hopefully the worst is behind us. We continue to give her aerosol treatments to clear her lungs, her respirations are still a bit high, & she's sleeping more than half the days. This was a gentle reminder of the impact a common cold (as it would have been for most 3-year olds) can have on a medically fragile child like Gwen.
She continues to attend preschool at the New Albany K-1 building, where Robbie also goes to school. She loves everything about school! Riding the bus, being with friends, working with her teachers & specialists. I can't say enough about the program & the amazing improvement we've seen with her willingness to learn. Normally, she's VERY social & happy to talk to anyone. However, we've noticed that she typically migrates toward adults, asking them to play with her. My hope is that she will begin to develop friendships with kids near her age by the end of the school year.
Gwen has no interest in eating anything by mouth, so she is 100% tube fed & wears her backpack (with feeding pump) most of the day with feedings continuing around the clock. It's hard to see her this way, but she doesn't seem to be bothered by it at all. When she was in the hospital, she did ask for water a few times. I would hold a cup up to her mouth & she would stick her tongue in it like a cat. It's a good place to start!
August 25, 2009- Since my last post, Gwen has continued to do well. She's not even had 1 trip to the ER! It's been nice to see her enjoy the summer. It turns out swimming is FUN, but she hates wet things on her body, so she strips off her suit as soon as it gets wet : ) It's been a pretty cool summer, so we've been able to take her to the zoo 2 times & to area parks several times. She'll start pre-school again this coming week & has been asking every day if the bus is coming to pick her up. Her nurse will ride the bus with her & attend classes with her again this year. That's such a relief for me since Gwen is 100% G/J tube fed, & any moderate or major change to her system still causes her to suffer rapid decompensation.
Gwen's Metabolic Genetics Dr. is very pleased with her. She has had decent amino acid labs all summer, so we've not had to make changes to her formula for a few months! Her constipation & reflux have greatly improved with use of 4 medications… Prevacid, Senocot, Miralax, & Neomycin (to lower C3). Her recent Cardiology appointment revealed her Mitral valve regurgitation was nearly undetectable, & no signs yet of Cardiomyopathy or Long-QT. He said he'd see her back next year! She had an ophthalmology appointment this month as well & so far, no need for glasses. However, he did say that the crossed-eyes (we often notice) could very well be an early sign of metabolic decompensation. It's been a good 4 months!
June 25, 2009- Now that cold & flu season has passed, May & June have been great months for Gwen! She completed a half year of preschool and loved every minute of it, from riding the bus, to classroom learning, and most of all she loved making new friends. By the end of her first month, she knew everyone's name. By the end of the school year, she graduated from parallel play to some interactive play & could sit to listen for up to 10 minutes (a major accomplishment for her)! During class, when all the other kids were having snacks, she had some success with tasting (licking) foods, but still has no interest in eating or drinking by mouth. She still has obvious developmental delays, but the classroom setting has helped her tremendously. Thank you to everyone at the school who worked so hard to make it possible for Gwen to attend preschool! It's amazing to see how far she's come.
Her latest labs looked good & she's tolerating more natural protein than ever before, and because of this we can tell her strength has increased. On a good day she can alternate feet when walking up stairs & sometimes her feet leave the ground when she's "jumping". She has sensory issues with swimming, but hopefully she'll learn to love it by the end of summer since that's one of the only outdoor activities she can do on hot days. Happy summer!
May 1, 2009- As always, Gwen has been super happy & enjoys every day no matter how rotten she feels. Since my last post, Gwen's had 2 minor hospitalizations & she was excited to go both times to see her friends (hospital staff). The first was Easter weekend, after we took her to 2 outdoor events she showed rapid decline in health. She began vomiting Saturday night, with moderate ketones. The symptoms continued through Sunday, so with an ammonia level that peaked around 81 she was admitted April 13 for 2 days. Then April 21 she was scheduled to go in for an Esophagogastroduodenoscopy (EGD or upper endoscopy) to study damage to the lining of her upper GI tract from reflux & vomiting. There was irritated tissue found near her pyloric valve. Biopsy results were normal & she was released 24 hours later. Out of this we also learned there is no plan to cure her chronic constipation, so we're going to treat it through additional medications (Senokot & Miralax combo) which upsets her stomach & frequently makes a big mess. She's just coming to the age when she should be potty trained, but we've had no success with it so far & it will be very difficult with the new medication.
April 10, 2009- Gwen has had a long streak of good health with no ER visits since March 13. She's doing really well in school & continues to exceed our expectations in many areas! She is a very social little girl, so the classroom setting has proven to be a huge boost for her social development & communication skills. From a class photo, she is able to identify all the kids in her class & tell us a little fact about them (ie. "he's funny" or "she is sad"). She's very excited about the Easter bunny coming this weekend.
March 16, 2009- Due to poor labs, Gwen is on a new increased natural protien formula recipe, but we've decided to do a very gradual increase to be safe. Once again, due to dehydration from Omniceph, we took her to the ER around 8:00pm Friday at noon for IV fluids. Saturday, she was belching a lot but no vomiting & very tired (fell asleep for the night around 6:30pm). Sunday morning she woke up & had 1 large emesis, but no ketones. She fell asleep again last night at 6:30pm. She's continued belching & heavy swallowing throughout Sunday & still today. I've been giving her extra calories via g-tube, but it's not making much of a difference.
March 7, 2009- After 2 days on Ompniceph, we had to take Gwen to the ER yesterday due to dehydration from diarrhea. Her ammonia was high/normal, so we decided to go home after 6 hours of IV fluids.
Also, her stool culture showed antigen was positive but the toxin was negative so she may negative strain of c diff or we may need to repeat the culture if sysmptoms persist.
March 5, 2009- Winter colds & viruses have been present in our house for the better part of this year. Robbie (Gwen's older brother) has had strep throat this last week, while her dad has been fighting an upper respiratory infection. To be safe, Gwen's on a 10-day course of Omniceph to guard her from common bacterial infections. Gwen's never had much luck with oral antibiotics without side effects, so she's also dealing with a fair amount of diarrhea, with 7 days to go.
Technical note, Gwen's C3 is back up to 100 (had dropped to an all time low of 17 in January). We've not been able to give her Neomycin due to diarrhea from various complications. Her c diff bacterial infection was aggressive again last week. We're waiting for results of the latest culture. At her genetics appointment on Monday, we received a new formula recipe with increased natural protein to help boost some of her restricted ammino acids that have dropped well below normal.
February 17, 2009- Gwen got behind on calories & fluids from a nasty bout with diarrhea which may have been caused by a new medication (Senokot) recommended by her GI doctor. After 3 days of severe diarrhea, we took her to Children's ER with ketones & vomiting Feb 17. Her blood ammonia was 81 (2-3 x her normal level), so she had to be admitted. She looked great by the next afternoon & was discharged the following evening.
Preschool is going really well! Gwen loves riding the bus & tells us all about the kids & teachers. She's having trouble focusing on tasks in class, especially in a group setting. With that exception, she loves to participate in all the activities.
February 5, 2009- Gwen had to be hospitalized for 2 days last week (Jan 29-31) due to complications from a nasty cold... Last Wednesday night she had labored breathing & a croupy cough. By Thursday morning she was vomiting & had small ketones, so we decided it was best to have her admitted to Children's before it got worse.
Gwen turned THREE Feb 3! We had a family party for her Saturday Jan 31, upon her arrival home from a 2-day hospital stay. On Feb 1 Gwen hosted her brithday tea party with friends Kay Kay & Claire. We have some really precious photos I'll post very soon.
Today, she attended her first day of pre-school! First & foremost, she was really excited (even with waiting outside at zero degrees) to ride the bus with her nurse & friend Michael. It was an added bonus when the bus took her to a real school. The school day started out dramatic when Gwen coughed until she vomited (due to extreme temperature change) as soon as she walked in the classroom, but none of the kids even seemed to notice. She really enjoyed her first day, handed out birthday cookies to all her new classmates, & loved it when the class sang "Happy Birthday" to her. From what I heard, she did well in class until it was time to sit still & listen. Anyone who knows Gwen (Miss Busy Body), knows she has a hard time sitting still unless Barney is on, so this will be a big challenge for her.
On a technical note, the Neomycin has been doing wonders in keeping her C3 (Propionyl) at a reasonable level, most likely due to the fact it empties her colon of the toxins otherwise reabsorbed into her bloodstrem. To avoid constipation, we still have to give her Miralax on days when she doesn't get her antibiotic. She'll see a new GI doctor next week to hopefully solve this ongoing motility problem.
January 5, 2009: Christmas break was wonderful for Gwen, minus 1 overnight stay at Children's. Her one true love is still Barney, so Santa brought her a Barney doll that sings the "I Love You" song. This is the song we sing to her to calm her during hospital procedures & you'd be surprised how many of the staff will join in & even lead the singing : ) Luckily this show seems to be making a big impact on her development, so we continue to feed her desire.
At her last genetics appointment on Dec 12, her doctor said her C3 (Propionyl) was too high at 136 umol/L (should be <2). This not only stimulates her body to create extra gastric acid causing her to feel nauseous (probably why she won't eat), but could also increase her ammonia level. To help correct this, we started her on the dreaded antibiotic neomycin which has now caused her chronic constipation to turn to diarrhea.
Even though we stopped giving the antibiotic 2 weeks ago, she's still dealing diarrhea. Her recent hospitalization (Dec 29-30) was caused by the diarrhea due to loss of calories & fluids, which in turn caused her to spill large ketones & frequent vomiting. She has a follow up Genetics appointment this Friday.
Happy New Year!!!!
December 10, 2008: Still managing Gwen's constipation along with the horrible aroma of C. diff (clostridium difficile bacterial infection), which typically causes very loose stool. Otherwise, she's doing really well this week!
Lights of Love is off to a great start! However, the weather hasn't lifted to allow me to get on the roof to finish hanging the lights. Wish me luck.
December 3, 2008: Gwen was discharged from Children's yesterday after a long holiday weekend proved to be a bit too much partying for her. She visited her grandparents in Dayton on Thanksgiving day, then a big day of decorating our house Friday, visiting my her other grandparents on Saturday along with going to zoo lights Saturday night, & finally she helped us pick out our Christmas tree in the slushy rain on Sunday. Shortly after getting the tree up, Gwen crashed on the couch & we rushed her to the hospital. Her ammonia was 90 & she was spilling large ketones. Also, I discovered upon our return from the tree far that her enteral feeding pump had a malfunction that left her 6 hours behind on her formula.
November 17, 2008: Right now, Gwen has a terrible tight cough, that's lasted more than 2 weeks. The good news is she has remained stable, so no trips to the ER yet this month! Gwen has been on a roll, with no hospitalizations since mid-October. Her newest diet seems to be agreeing with her. Even though her labs are poor, she still has a lot of energy. Her reflux seems to be better, but we're now fighting constipation on a continual basis. She continues to have low muscle tone, so she's not able to jump, but that doesn't stop her from trying. "Jumping" has become one of her favorite things to do, even though she doesn't completely leave the ground. We've still had no luck with getting her to eat or drink by mouth, but she occasionally shows interest in touching our food.
Last week, we took Gwen to visit the special needs preschool, a part of our local school district. She cried for about 10 minutes when we walked in the room, but eventually calmed down & sat for story time (on her nurses lap). We've begun Gwen's IEP (individual education plan) & on her 3rd birthday she will begin going to this class for preschool 2.5 hours daily M-F. This will be a great experience for her!
Happy Thanksgiving to all of you!!! We have so much to be thankful for this year.
October 10, 2008: Last Thursday, Robbie (age 5) came down with the flu. Saturday night, Gwen was vomiting & it didn't end, so we took her to the hospital around 6:00am Sunday morning. As of today she is still not tolerating formula, so looks like we'll be here through the weekend. Otherwise, her spirits are very high & she's bouncing off the walls because she's not allowed to leave her room. In the mean time, her vocabulary is growing quickly. She's talking in broken sentences throughout the day & it turns out she's very opinionated! Her favorite show is still Barney which we let her watch a video at least 3 times each day. Oh my! She sings a few songs now too... Itsy Bitsy Spider & the I Love You song from Barney (of course).
September 25, 2008: Gwen was able to attend the big Corn Whole fundraiser this year & had a great time! However, the day was a bit too hot for her & she got sick immediately following the event. We struggled for a week at home to keep her well, but finally took her to the hospital on Sept 22 due to vomiting & small urine ketones. She bounced back quickly & was able to go home 3 days later.
September 4, 2008- Gwen's doing really well! Her amino acid labs are finally improving, so we could soon see increased muscle strength. While Gwen has been walking for just over 1 year now, because of her low tone she still walks like a 13 month-old child. Her new orthotics are helping her to walk with her feet closer together as they support her ankles.
We have been amazed this month with her increased verbal skills. She now puts together several words together on a regular basis, ie. "I go see scuba (school bus)." "I want to watch Zach & Cody now." She's starting to ask questions about her medicine & how her tubes work, ie "What that? Does that go in my belly? How in my belly?"
She's moved to a new phase in playing with her dolls. She now carries them around & puts blankets on them, puts them to "night night", feeds the babies (which is funny because Gwen doesn't eat by mouth), & puts diapers on them. Very cute!
August 18, 2008- Thursday we received a call from Gwen's Geneticist that the amino acids had reached an all time low, with several values well below normal. We began increasing her daily protein intake by fractions of a gram per day. Consequently, Friday she vomited only 1 time. Saturday was messy, with several small occurrences of vomiting. Sunday was worse than Saturday with her vomiting more than 1 time per hour the entire day & sleeping most of the day.Still, she looked good & played well while she was awake. Today Gwen woke up vomiting again & had elevated ketones, so she was admitted to Children's. Tonight she looks good, but very tired. Also, her ammonia was 85, which is not good. We'll keep you all posted.
August 4, 2008 Gwen was most recently discharged from Children's July 17, at which point her diet went back to the original source of whole milk for protein. This is a difficult transition for her & ever since going back to the old recipe, we've been fighting reflux, vomiting, & constipation (new problem). Her restricted amino acids (the 4 she is unable to process on
her own) are at an all time low, which is causing loss of muscle. She's been very clumsy the past couple weeks, and he doctors are concerned.
Additionally, she's still testing positive for c-diff (Clostridium Difficile Colitis) which she's had since May & was likely caused by high doses of antibiotics to fight gram negative sepsis. Due to the fact that she's constipated (opposite of typical c-diff symptom), there is no
treatment at this time.
Her PT & nurse noticed last month both of her ankles bow inward (pronate) when she walks. She's always had this problem, but now it's to the point she'll need some support. She was fitted for Sure Step orthotics, which she will be able to wear with regular tennis shoes.
Some good news... Gwen's vocabulary has really improved! We can almost have small, broken conversations with her. She can now express where she feels pain, which is very helpful! I think she'll be a chatter box by this time next year : )
July 18, 2008 Our attempt to convert Gwen's protein source to soy milk has failed. We were 1/2 way through a 16 day transition when she became ill, vomiting several times per day. We finally took her to Children's ED when she began spilling urine ketones & zoning out after vomiting, which could indicate her blood ammonia is elevated. Labs showed her ammonia was 87, so not dangerously high, but too high to go home. So, Gwen got to spend about 24 hours at the hospital receiving IV D10 & intralipids to regulate her system. She was drowsy most of yesterday, but by last evening, she looked back to her normal self with no dark circles, no vomiting, & only occasional heavy swallowing. Today she looks fantastic, talking, walking up & down the sidewalk looking for her friends Will, Nathan, Sydney, Zach, Sophia & Raeyna.
June 26, 2008 Gwen has been at home since June 16 after dealing with Parainfluenza. However on June 17 we received a call from the hospital that Gwen now has C-diff (bacterial infection in her intestines). After treating her with a standard antibiotic for this infection (Flagyl) & dealing with several days of vomiting, her GI doctor has switched her to
Vancomycin ($660 for 7 days)! Hopefully this will clear up soon.
Gwen & I traveled along with our good friend Michelle (mom to Allison) this past weekend to Lexington, KY for PA Family Day! Even though Gwen vomited several times on the way down, we had a great trip, met 10 other PA families, learned some new tips & tricks, & enjoyed the beautiful day. We were so fortunate to spend that night with the host family, then returned to Columbus Sunday morning. I'm almost certain PA Family Day 2009 will be
in Columbus, but the date & location are yet to be determined.
Be sure to watch for Gwen & our family on NBC4 (if you live in central Ohio) July 3rd between 9pm-11pm, during the airing of Red White & Boom!
June 11, 2008- One more go around with Parainfluenza! Gwen was admitted to Children's June 9 with 102 fever, vomiting, & fatigue. I'm happy to say she's been discharged & will fight through the rest of the course of this virus from home. Robbie's birthday is Friday, so this could be the first year she will be home on his birthday!
Tonight we will meet with a news team from NBC4 to do a story about Gwen & our fundraising efforts. This story will air July 3rd during Red White & Boom! One more step toward creating awareness about this rare disease.
June 6, 2008- Gwen is still home and doing well. She was a little sick last night with some vomiting, but is otherwise doing well. She was a maniac when she got home last week! We're all glad she's better!
On a side note, Tom (Gwen's dad) injured his knee during a soccer game 2 weeks ago and is scheduled for surgery on July 2. Never a dull moment... :-)
May 28, 2008 Gwen's still doing really well & will be discharged Friday morning (only 2 more days!!!) She still has diarrhea, likely caused by the antibiotics, but it's under control. She vomited a small amount yesterday, but I think that was due to a bolus of formula we put in her stomach in an effort to get her off continuous enteral feedings (this is a side experiment). I've gone through training to repack the infected port site, which I'll have to
do every day for the next few weeks. Gwen's lab values are OK, so luckily we didn't have to deal with any significant metabolic concerns during this illness.
May 23, 2008 Today Gwen slept in until 9:00. She had a renal ultrasound in the morning, then cardiac ultrasound in the afternoon. She is currently having a PICC (peripherally inserted central catheter) line placed since her IVs have only been lasting a little over 24 hours and she's got at least 10 more days of IV antibiotics. The oral antibiotics didn't work out since dairy weakens the antibiotic. Since Wednesday we've had to change the antiseptic strips in her surgical wound and that will have to continue for at least 2 more weeks. Hopefully, we'll come up with a home care plan soon.
May 22, 2008 Gwen's doing really well, with exception of vomiting 2x last night. She's down to 1 antibiotic, which the ID team recommended be continued an additional 10-14 days. Overall she has a very good prognosis & should recovery fully! Today she woke up (around 4:00 am), vomited, & since then we've seen her old personality! Today she's been taking wagon rides, entertaining the staff, had speech therapy, then went to music & art classes. Is this a resort or a hospital? She's finally gone down for a nap around 1:30.
May 21, 2008 She had a rough day today. They had to fix/replace her G/J tube due to clogging (Prevacid does not like the tube), move her IV from one had to the other, and she had to have her dressings changed from surgery, plus she’s had some additional rapid respirations. There is a hole from removing the port rather than stitches (they fill it with dressing and let it heal from the inside out in about 20 days). However, as we all know about Gwen, she is being a true trouper and has perked up now. They’ve identified the bacteria and so Gwen is down to one antibiotic thorough the IV. After her labs come back "clean" she'll have to stay in the hospital at least 3 more days to continue IV antibiotics and the she can go to oral. She’s had some issues with oral antibiotics and vomiting, but if that goes okay she could go home in the next 3-5 days. The best news is that Gwen is looking better and they're specifically fighting the infection.
May 20, 2008 P.M. Gwen had to have surgery today to have her port removed due to the suspicion that it is the source of the infection. Her regular surgeon, Dr. Teich wasn’t able to do her surgery, so it was performed by Dr. Caniano (Surgeon-in-Chief and Chief of the Department of Pediatric Surgery). Here's the big news... the swelling I kept talking about around her port for which they did a dye study Friday, then an ultrasound yesterday (both showing no abnormalities) was totally part of this bacterial infection. The surgeon said "It's a really good thing we pulled that port out because when I created the incision under the port, about 3 Tbs. of puss came out. No antibiotics going through the port would have reached that." Gwen is an angel but also has angels watching over her, thanks to God! What a crazy day. Hopefully she'll start to recover now that the source of the infection is gone. The strain of bacteria is called Serratia marsecens, which is sensitive to piperacillin (Zosyn), which was a secondary strain of bacteria that had grown in cultures from her first sepsis episode in Sept 2007. The culture taken from her central line removal surgery this week revealed these bacteria had been dwelling in the port area, likely for the past 7 month & was only released into the blood stream when the pocket of bacteria became infected after a blood draw last Monday.
Thanks for your prayers! They're working : )
May 20, 2008 A.M. Gwen's fever went back up last night, but they started specific drugs now that they know it's a gram neg. sepsis infection so it went back down. The bad news is that it is a gram negative infection and it's nasty (this is what she had last year during the CH tournament). They're still testing to see which strain it is, but they're suspecting it's the same one. They suspect that her fever will spike again tonight due to the cultures still showing the infection after the first round of wide spectrum antibiotics. Another complication is that at 4:00 today Gwen is scheduled for surgery to remove her port (which is where they think the infection started). They are worried that the antibiotics are not killing the bacteria that are living in there. So, as you can see, still quite scary, but Jen said that Gwen is looking better again today after last night's fever. As always, keep the Mouat's in your prayers!
May 19, 2008 Gwen went to Children's last night with a 104 fever. It's down to 100 now after a dramatic night. She didn't have any seizures though. They're still waiting for test results, but looks like an infection. They started her on antibiotics last night anyway so hopefully it's already started working. Jen's thinking it has to do with Gwen's port since it's been puffy around it for a few days now. They might be removing the port for good if it is the line that causing the infection. Hopefully the test results will come back soon. Oh, and ammonia was like 34 or something, so thankfully not that.
May 6, 2008 Spring is here in Ohio and Gwen is ready to get outside! She begs to go outside to play with the other kids on our street, ride in her wagon or Robbie's Power Wheels jeep. It's so nice that she finally has activities beyond the walls of our house and those at the hospital! She's still showing some interest in potty training, but not much progress this past month. Her nurse has "learning time" with her every day and she loves getting stickers for doing a good job. She's recently started trying to count and say ABCs, but still a long way to go : )
We have started another new formula recipe to stabilize Gwen's reflux, belching, vomiting, & dizziness. This time her geneticist has decided to treat her based on how she looks, rather than mainly considering amino acid lab values. We'll significantly decrease her natural protein (even though many amino acids are already low) & increase calories from carbohydrates. We agree that she's been pushed too hard with the natural (whole) protein, which has caused her to be on the verge of metabolic instability for more than 3 months. This decision gives me some peace in knowing she'll feel better, but we'll continue to monitor her closely in that she must continue to grow, start to gain weight, & her amino acids shouldn't sink lower than they are today. She'll continue with labs & genetics appointments at least every 2 weeks until this is settled.
April 2, 2008- Gwen's vocabulary continues to grow every day! She's now doing small sentences & we can actually understand about half of what she's saying. Her favorite sayings are "Change dipey (diaper)" & "I go bye bye." We have a photo book with the faces of my family & friends, which she goes through every day. At this point, she appropriately identifies & pronounces over 30 names in the book! She loves to look through books & brings us several books a day for us to read to her. I believe all her doctors & care providers are amazed with her progress.
On a down note, she has again lost a little weight along with having 2 viruses the past 2 week. She was admitted to the hospital last Monday during a routine Genetics clinic appointment, then again yesterday (so we're here today). She still looks really good, just tired. I simply cannot wait until this cold season is over!
March 14, 2008- Gwen is 25 months old & doing very well this month, with no hospitalizations! She continues to grow taller, but hasn't gained weight for about 7 months. Two of her essential amino acids (Isoleucine & Leucine) continue to be lower than normal. Her geneticist is concerned she's in at steady slow pace of degradation, where her body is taking its own muscle for energy due to lack of essential proteins. We've been trying to increase her protein for several months, with some success. In February, she successfully took 1 additional gram per day. However, that wasn't enough, so now we're trying to add an additional 1.8 grams per day (gradually over 8 days).
She had her second dentist appointment today. Her teeth are cavity free since she has no sugar in her mouth. However, the teeth are lined with pits & grooves that could cause problems with the general health of her teeth.
Feb 21, 2008- Gwen became ill Monday night after getting behind on her formula, so was admitted to Children's Tuesday. She has stabilized & was discharged last night : ) We're a little worried because she's lost weight for 2 months in a row, which means she's likely loosing muscle. Her genetics doctors are trying to increase her protein intake, but the
first attempt (2 weeks ago) her body didn't accept. Today, we're starting attempt #2.
February 4, 2008 Happy 2nd birthday Gwen! It's been 2 years since Gwen came into our lives & I can hardly remember what our daily lives were like before that day. Thank you to everyone who called to wish her a happy birthday! She had a tough day as she was sick & in the hospital, but the hospital staff really helped us to make it a fun day for her. She had some kind visitors, including a special visit from Cinderella!
After a very good start to the year, Gwen ended up in the hospital only 1 time in January due to mechanical defect with her enteral feeding pump. It was a short 2 day stay to get her body back on track. Her central line was not working well, which caused a lot of drama around her throughout the stay, with trying to figure out why the line wouldn't flush fluids, but it would draw blood. Yet another medical mystery from Gwen. The port to the line is still in place, but will more than likely need to be replaced again soon.
February started off with a bang. She went into Children's ER Friday Feb 1 with large ketones & 2 episodes of small acidic vomiting. We're not sure what caused this episode, since she had a couple of things going on. Her formula was changed on Monday to increase her natural protein & calories since she's actually been loosing weight & she had a nasty cold. She was very tired throughout her stay, but remained stable. Not without drama though, because her j-tube was constantly clogging & the nurses spent hours trying to clear the line. She had a stomach x-ray & a visit from radiology which revealed the balloon (which holds the tube in her stomach) was somehow inflated more than it had been the previous Monday when they placed the tube. The line worked well yesterday & again today, so we're not sure what was happening. She's doing well at home today!
January 7, 2007: So far, 2008 has been a fantastic year for Gwen! She's still coughing from her last virus, but has not been vomiting for 2 weeks. With her 2nd birthday only 1 month away, it's amazing to see how far she's come this past year. She is an amazing little girl & we feel so lucky to have her in our lives. Gwen was discharged from the hospital the evening of December 23, still vomiting. We were pretty sure we'd be heading back in before Christmas, but she pulled through & we enjoyed a peaceful holiday at home. Tom & I were sick around Christmas, then Robbie for 3 days following. Some good friends dropped off a Christmas meal to us on Christmas Eve (knowing we hadn't had time to shop for groceries), then invited us for breakfast on Christmas morning. Another amazing lady from our church delivered dinner to us the day after Christmas to add to the nearly 1 year of weekly meals she's delivered to our home. We are so blessed and grateful!
Gwen is busy & happy at home today with her nurse Amy. She has many new
toys to keep her busy & she's having a great day!
December 21, 2007- Gwen was discharged the evening of Dec 11 after 5 day of battling Parainfluenza. Now 1 week later, she caught another bug. Since getting her j-tube in August, she had only been vomiting yellow & green (no formula). However, this Monday night (Dec 17) we saw formula come up for the first time. I assumed her j-tube had come out of place, so we headed to the ER (midnight) to have it fixed. The x-ray showed it was in place, resulting with another ticket for an all-inclusive stay at Hotel Children's! The GI doctor indicated that some GI bugs will temporarily reverse the direction of flow in the intestines (reverse peristalsis?) Her ammonia was 166 Tuesday afternoon, & is back to normal by Wednesday. She vomited Thursday morning, but the rest of the day went well (along with a 5 hour nap), so she was discharged that night. Friday morning (Dec 21), she is still not well (vomiting & diarrhea continuing), so she's on her way back to Children's. Only 4 days until Christmas!
December 10, 2007- Gwen was admitted to Children's Dec 7 due to a downward trend of her white blood cell counts, croup, vomiting, diarrhea & fatigue. Test results show she has Parainfluenza virus that's been causing her symptoms. She'll be monitored by Genetics, Infectious Disease, & Hematology during this hospitalization. During the first 2 days of her stay, she slept approximately 20 hours per day. Sunday morning she woke up looking a little better, but vomited 5 times during the day. Today she's looking the best she's been in over 2 weeks, but just vomited again & still has diarrhea, so no ticket home today.
December 6, 2007- We returned from Florida last night & WOW it was quite a change
in temperature when we reached Columbus (from 80 & sunny to 20 & 5 inches of snow)! Our trip to Disney went pretty well. Gwen was treated like royalty, receiving private transportation from the resort to the Magic Kingdom (even got to use the VIP entrances). We took her to 2 character breakfasts & 2 short trips to the Magic Kingdom. She had a handicap pass, so we were able to take her on several rides in a short period of time. She loved all of them (Small World, Haunted Mansion, Buzz Light-year, Goofy's Barnstormer, & Peter Pan). She also got her first haircut at the Main Street Barber Shop in the Magic Kingdom!
Gwen was exhausted from the time we reached the resort Nov 30. We thought it might be travel fatigue or side effect of an antibiotic (Septra for a UTI), but she had a low fever starting Dec 4 & she still has it. Gwen's nurse, Amy, traveled with us, so she was able to keep Gwen at the resort most of the trip. We came very close to taking her to the hospital while in Florida, but luckily she pulled through. We'll have to take her to Children's today for labs & an infusion. Also, her j-tube got pulled out by accident as we were waiting on the airport shuttle yesterday, so we'll have to get that put back in today. I had a spare g-tube mic-key button with me that we placed just as the shuttle arrived & she seems to be doing well with that for now.
We'll probably wait at least 2 more years before we try to take Gwen away again. Her health is too fragile right now. As always, she was a real trouper & never cried even though she felt terrible. I'll post some photos on the website soon!
November 14, 2007- At 21-months old, Gwen has finally started clapping her hands! She has bridged a gap during the past several months & caught up to her appropriate developmental range according to her PT, OT, & speech therapist. From the time she was diagnosed, these are things we never expected to see. She is a perfect example of how early diagnosis & close medical management can completely change the life of those severely affected by inborn errors of metabolism. Gwen has had great success with the most recent formula changes. In fact, her reflux has been reduced to the point that she hadn't vomited for 3 weeks, until this past Sunday morning. Gwen's doing well today now after she got sick over the weekend (vomiting & urine ketones) & we tried to manage at home. Brought her to Children's Monday for IV fluids to help catch her up, then went home around 5:00. Back to the ER around 8:30 that night after symptoms worsened. She was admitted with blood ammonia of 103. In the morning it was up to 130. As of 11:00 A.M. Tuesday it was down to 40 (high-normal range) and we went home. This was her first hospital stay after a wonderful 3+ weeks out of the hospital.
October 7, 2007- Gwen is home today! She's running around the house as if nothing has happened. Here's a medical summary of what she's been through during the past 2 weeks.
Consults & treatments received from the following groups at Children's... Emergency Department, Infectious Disease, Genetics, Cardiac, Gastroenterology, Hematology, Radiology, & nurses at 6West. From the initial blood cultures drawn in the ER, it was only 7 hours later the gram-negative rods (later identified as Klebsiella pnemoniae sepsis) were identified as the culprit (yikes!) Luckily, Gwen was already on the antibiotics to kill this form of bacterial infection (Ceftazidime, Vancomycin, & Gentamicin.) She was switched to a more specific antibiotic, Zosyn, on 9/27. On 9/29, a second bacterium (Serratia marsecens) grew from the initial cultures on 9/26. This bacterium was also susceptible to piperacillin (Zosyn), & Gwen was looking great by Saturday! She had an Echo on 9/27 which revealed moderate Mitral Valve Regurgitation. We'll follow up with an Echo in 2 months, also to check for valve vegetations from the bacterial infection. Her formula was started on 9/28 (through her j-tube), which she tolerated very well! Her red & white blood cell counts, & platelets were low due to bone marrow suppression from being ill prior to this infection. She received a transfusion of packed red blood cells on 9/29 & all blood counts were normal by the time she was discharged yesterday afternoon.
After she started feeling better, we decided to go forward with some GI tests to find out more about her esophageal reflux. However, the reflux had nearly vanished by 9/29 (after more than 6 months of chronic reflux.) The pH probe (24-hour study) showed only very mild pH levels. A video swallow study followed, but Gwen didn't cooperate with swallowing the barium, so no results from that test. Due to lack of reflux symptoms, we will place consideration of the Nissen Fundoplication surgery on the back burner for now.
In the mean time, friends & family were very busy planning the big fund-raising event of the year! On 9/29 we held the 2nd Annual Cornhole Tournament (lead by Sarah Underhill) & drew the winning raffle ticket for the '69 Corvette (lead by Eric Yavitch). I'm sure you've already heard both events were hugely successful!!! Thank you SO much to everyone who helped support our efforts! We are truly blessed.
September 27, 2007- Hi- After a very scary day yesterday, Gwen is doing much better right now (thank God)! Her fever spiked throughout the past 36 hours (101-106+), but finally dropped overnight. So far today she's sitting up & talking, even smiling. She's going to be on a 10-14 day IV antibiotic treatment for what is called a gram-negative sepsis (blood infection). Her white cells have normalized & red cells are low today, so she may have to have a blood transfusion today. She's currently getting her j-tube placement checked in case they are able to start food again today. Later today she'll have an echocardiogram to check for corresponding heart infections & murmurs. We've just spoken to an Infectious Disease doctor who is confident we'll beat the (30-50%) mortality odds. They assume the seizure yesterday was caused by the sudden spike in temperature, & we'll not be treating for a seizure disorder. She also has a small outer ear infection, for which we'll be treated today.
After this issue begins to settle down a bit, we'll get back to the original problem & reschedule her GI tests to find out why she continues to produce & vomit excessive stomach acid, which may be causing her ketones, elevated blood ammonia, & metabolic instability.
I think that sums up everything. Thank you for your prayers & concern! Jen
September, 24, 2007 Gwen is currently in Children's for the 4th time this month. Since the j-tube (intestinal feeding tube) was placed Sept 13, she's been admitted 2 times with elevated ketones & high blood ammonia levels. Additionally, the reflux has continued, producing only small amounts of yellow acidic emesis. On Wednesday, she will begin a 24 hour pH probe esophageal study to help determine the cause of this progressive problem.
As always, Gwen is in great spirits & spreading joy to all of her friends at the hospital. Today is the big rededication celebration, for Columbus Children's Hospital will now be called Nationwide Children's Hospital (for the low low price of $50MM).
September 18, 2007 Gwen's been admitted to Children's 3 times already this month. I guess cold & flu season is already here! With her 1st September illness, she went home after 4 days. Then, again she became slightly ill on the 11th, while only spending 1 night at the hospital.
She had 2 outpatient Radiology procedures on the 13 (Upper GI & J-Tube placement), where they first checked to see if her G-tube could be causing her reflux. With that being ruled out, we proceeded with the J-tube placement (Jenunal Tube, extending from her Gastronomy Tube, into her intestines). The theory behind the J-tube is to bypass her stomach, to decrease the amount of formula & medications she's refluxing into her
esophagus. The procedure lasted 4x longer than expected & it had been over 7 hours since Gwen had formula, so we headed to the ER after the procedure to give her IV fluids & test this new tube.
Over the following weekend, she was vomiting bright yellow stomach acid in small amounts. On Monday, her ketones were "small". We took her back to Radiology to check placement of the J-tube, which was normal. Then, we headed to the admissions office. Back to 6A West (our unit at Children's). They had reserved the "luxury" suite for us (a very large room that once had 4 beds in it). By the way, all the rooms in our unit are singles, with an expansion couch for parents to sleeps, a leather recliner, flat panel TV, & full bathroom (all newly remodeled). Anyway, Gwen was looking great & running around until they hooked her up. Then the labs came back & showed her ammonia was 110 (her normal high in the 30s). We'll be talking to a surgeon today about the pros & cons of the Nissen Fundoplication surgery that's been a controversial topic for us. More to come on this topic.
In the mean time, Gwen has been as happy as ever. Her walking & talking have improved. Her new word this week is "Happy". Very appropriate. The staff at the hospital always laughs when she uses her favorite phrase "All done", every time they walk toward her bed. Although she puts up a small fight, she's a very sweet & loveable patient, very quick to forgive : )
Sept 3, 2007 This has so far been a rocky month for Gwen. She was taken off her Reglan due to some temporal signs of atoxia (ie, dizziness). However, the next med we tried (Neomycin) slowed her reflux by killing of some of her Propionate production, but in turn caused diarrhea. Back to the Reglan! Most of this Labor Day weekend was filled with Gwen belching, vomiting, & spilling ketones. The redness under her eyes was growing larger. Last night we finally broke down & took her to the ER. This morning her ammonia is up to 180 & she's very sleepy. Last night, before she went to the hospital, I took her to see a hometown production of Suessical the Musical. The management team had asked me in advance if I could bring Gwen because they wanted to dedicate the show to her. The theme of the show is "Anything is possible if you just believe." She made her stage debut at the final performance, when The Cat in the Hat carried her on stage to introduce her to the audience. She was a trouper!
August 22, 2007 On Aug 11 we flew, along with the Ellis family, to Chicago for PA Family Day! There were 8 families there & it was a great experience. Gwen & Allison were the youngest PA kids there & were very popular with Lucy (PA age 8, Lexington, KY). It was a very long day for all of us, we nearly missed our flight coming home, but now looking back, it was well worth the trip. We met so many amazing people who are dealing with this terrible disease in their own special way. It seems no 2 families have the same way of dealing & it was nice to hear what's working for them along with what isn't working so well. We have a lot to learn!!!
On Aug 13, Gwen was "off" a bit. She was sleepier than normal, then vomited & gagged around 6pm. The next day she seemed okay, except her ketones were elevated. Around 6pm, she started vomiting & gagging again. Her ketones went from trace to small. It was time to head to the hospital. That night, her ammonia was just over 100. By the next morning, it was up to 150. While on the D-10% (Dextrose 10%, IV fluids), she looks great despite her elevated ammonia. She stayed 2 nights in the hospital & came home Thursday afternoon. However, while she was there (Wednesday night), her little friend Allison took an ambulance ride to Children's. Allison is fine now, but it was a very scary experience for her family. I'm sure her mom will post the story on Allison's page very soon. Gwen was started on Reglan (along with continuing Prevacid) to control her esophageal reflux. At first we didn't notice any side affects, but recently we've noticed she appears a Of course we don't know if that's from Reglan, high ammonia, or something new.
Aug 1, 2007 Gwen is walking everywhere now (still looks a lot like Frankenstein) & learning new words on a daily basis. Last night we took her to get her first pair of walking shoes & she was very proud.
July 16, 2007 Gwen is 17-months old this month & has started walking (July 6)!! She takes several steps every day on her own, but still prefers to crawl as her primary means of travel. Her climbing skills have hit a new level from going up & down stairs, as she now climbs on the couch & chairs which lead to tables & counters, but she doesn't have the knowledge to know how easily she can fall off while she's celebrating her achievement : )
On top of seeing her Metabolic Geneticist, Pediatrician, Gastroenterologist, Physical Therapist, Occupational Therapist, & Speech Therapist, (graduated from visiting her GI Surgeon) , Gwen has added to her list of specialists a Psychiatrist, who specializes in feeding disorders. While Gwen shows almost no interest in eating (since December 2006), we will begin to include her in mealtime & introduce new protein free foods. We're told it might take years until she'll want to eat on her own, so this will be another challenge.
With Tom being out of school for the summer, he's enrolled Gwen in swimming lessons at the local YMCA. She's only been in 1 class so far, but her instructor has already stated that Gwen is the most enthusiastic student she's ever had in any age group! We'll post some swimming photos soon.
July has been a relatively good month for Gwen's health. She's been hospitalized only 2 days, with mild symptoms. Since lowering her fat & caloric intake, she's been spilling ketones in her urine nearly every day (1.5 months). As long as she's not vomiting, we'll keep her on the reduced diet with hopes that her weight gain will slow down a bit. She currently weighs around 14.5 kilos (31.9 lbs). The Erythromycin (used to control reflux) seems to be a problem with causing diarrhea. Her GI doctor is currently playing with different doses to see if the benefits outweigh the risks.
June 20, 2007: With the new reduced fat & calorie formula introduced to her May 29th, she's had a few bumps in the road, with 3 bouts of elevated ketones & ammonia. She's been hospitalized 2 times during the past 2 weeks. After 4 changes to the formula, she's now been stable for 5 days!
We started giving her erythromycin for reflux last month. It seems to be helping a bit, but her poor bottom is very sore from increased bowel movements. We're helping to add to the landfills of Ohio by changing her diaper almost every hour during the day.
After 4+ months of pushing her mailbox walker around, she's finally showing some interest in standing independently! Yesterday, she stood on her own for a couple of seconds & was very proud of herself.
Gwen has several words she loves to use daily! Of course, Dada & Mama. She also says, dog, kitty cat, Baba (Robbie), bath, up, yeah!, no-no, & many more.
With Gwen being 100% g-tube fed, we're not having much success with her eating table food. It's hard to believe she was almost 100% bottle fed up until Christmas. I wonder what changed in her that made her stop eating.
May 25, 2007: Gwen had her monthly genetics appointment today and it went well for the most part.... Gwen has chronically had low red blood cell counts and took liquid iron supplements for the first several months of life, but her doctor determined she didn't have enough "binding capacity" for the iron to be effective. She's also had 2 blood transfusions this year, which temporarily raised her hemoglobin until the next time she needed to have blood drawn. Now she's getting injections of Procrit, the minimum dose 1x per week for 3 weeks, and it has already raised her hemoglobin to 12.5 (up from <10) & her energy level has greatly increased!
On the other hand, Gwen's esophageal reflux is at an all time high. I can see her formula coming up into her mouth several times a day (& she's 100% g-tube fed). Most of the time she can swallow it, but sometimes she vomits :( Anyway, she's already taking 15 mg of Prevacid 2x daily to block some of the stomach acid production, but now we'll be giving her Erythromycin 3x daily along with the Prevacid. We really hope this will slow her intolerable reflux.
It's also been determined that Gwen is a bit overweight. Her current daily caloric intake is around 80 calories per kilogram (14kg x 80=1120 calories per day)! We'll be removing 50 grams of carbohydrate filler (Polycose) over the next 5 days, which will take us closer to 70 calories per kilogram (ideal for her height).
Today, I was holding Gwen's shirt as she was standing. I let go without her knowing & she stood independently for about 4 seconds before she noticed. Of course she fell immediately thereafter, but it was so cool to see!
May 1, 2007: Yesterday Gwen received her first shot of Procrit to boost her red blood cells. Hopefully, after 3 months of this treatment she'll be able to kick her chronic Anemia. She still doesn't want to eat so she's fed 100% through her g-tube, but now that she wears her pump in a backpack she's free to roam all day. Gwen has been home from the hospital for over 3 weeks!!! I'm loving this change in the weather, so we can put an end to cold & flu season! Gwen is doing really well developmentally. She's building her vocabulary & crawling at the speed of light (even with her backpack.) She's still not able to stand independently, but last week her doctor raised the amount of protein in her diet, so I hope that will help her build the muscle strength to take that first step this summer.
April 5, 2007: Gwen returned home a couple of days after her surgery (she's such a TROUPER!) and is doing very well. She has been vomiting some I think because of a cold, but she seems to be doing well otherwise. We have recently figured out how to use her backpack pump so she can be fed while we're out and about without having to do the bolus feeding. She's not a huge fan of the backpack, but she enjoys a little more freedom during mealtimes. We had Easter photos taken last weekend too, so check back to see Allison and Gwen's beautiful photos!
March 28, 2007: Everything turned out very well with the surgery. It took a little longer than they expected because of a couple of complications getting the line fed through the correct vein (common with little ones I guess) and then they had to replace the actual port mechanism because the one she had in was mangled and causing the needles to come out J-hooked on the end! Yikes! Who knows how that happened?? Anyway, she's laughing, smiling and playing and doing very well. She had some concerns after with a low temp and some swelling in her face, but both seem to have subsided.
March 27, 2007: Well, Gwen went back to the ER a couple of days ago and was checked into the hospital for vomiting. While we were in there we were persuaded to fix the port problem with surgery right away. We were very hesitant to do surgery since she was already sick, but they doctors were very sure that this was the best thing. Her port was causing needles to "J-hook" when they came out (the tip of the needles were literally bending into a "J"!) Surgery is this date.
March 13, 2007: Gwen has had a weird few days. It seems she got a UTI from a catheter procedure & she required antibiotics. However, the antibiotics made her vomit, so she had to get IV antibiotics. She was admitted to Children's on March 8 then discharged with home nursing care on March 9. The plan was to continue IV antibiotics 2 times daily through March 15. However, on the morning of March 12, during her antibiotic infusion, her neck began to swell, there was bleeding on her PJs by her port site, she vomited, the central line wouldn't flush, then the nurse called 9-1-1. She got to take her first ride in an ambulance. It turns out her central line has a kink in it & will need to be replaced. We haven't scheduled the surgery yet & hope we can wait until spring break or summer if all goes well.
February 14, 2007: This is proving to be a better month than January, but definitely not her best. February 9, we headed to the ER with symptoms of vomiting, clammy hands/feet, and 97 degree temperature. During a urine culture, they found traces of protein in her urine. She was admitted that afternoon, but left Saturday evening with a new antibiotic (Bactrim) to treat her for a potential UTI (urinary tract infection) since there were traces of E coli in her urine culture. She vomited nearly every time we administered this medication (2x daily), in addition to vomiting with morning doses of Prevacid (also given 2x daily.) So on February 14 (Valentine's Day), we were instructed by Genetics to bring her back to the ER for more tests. We are currently awaiting results. We'll keep you posted!
Gwen was admitted to Children's again on February 14. Her labs were absolutely normal, which was great, but didn't help explain her constant vomiting. In the mean time, we had some drama with her central line infiltrating fluid into her chest, then again when the line caused swelling on her neck. On Friday, she was scheduled in for an Endoscopy procedure to check out the damage to her esophagus & stomach. Unfortunately, Gwen was not much affected by the sedatives. In fact, after giving her several doses, she was still very active, but began to wheeze. The procedure was cancelled. We're now contemplating whether she should have a J-tube placed in her intestines to administer all of her nutrition (since she will no longer take any food by mouth.)
Back at home on Saturday the 17th, Gwen was her usually happy & active self. She was crawling all over the house. On Sunday, she decided it was time to show off her skills & decided to pull herself up to stand in her crib!
January 2007 This has been a rough month for Gwen. She's spent 19
out of 27 days in the hospital (4 admissions). She got her 2 top front teeth on Dec 20 & started showing cold symptoms on Dec 21. By Christmas Eve, she was vomiting 2 to 3 times daily. Her fever began on Christmas Day, so we gave her Tylenol & hoped that would take care of the problem. But on the morning of Dec 27, the fun was over, & we headed to the ER. She was admitted for fever & vomiting for 5 days & came home looking pretty good on New Year's Eve. However, she started to vomit again on New Year's Day & back to the hospital we went. She was admitted for another 5 days, but the vomiting persisted almost every time they began to feed her again. During that time, Robbie (3 year-old brother) began vomiting at home, so we speculated she may have had a virus. We attempted again to go home, but returned almost 24 hours later.
At midnight on Jan 7, we returned to the ER & her ammonia was 90, which is higher than normal & a fever of 101 which was enough to consider she might have a central IV line infection. Antibiotics (Clindamycin & Ceftazidime) were started as a precaution. By morning, her temperature was 96 degrees & she was very sleepy. That evening a second ammonia level was drawn & showed her level to be 235! The following morning is was 236, so Arginine & Sodium Benzoate treatment was started. Her ammonia level dropped quickly & her temperature normalized. She slept for 2 days, except for periods of time when she would wake up & stare blankly toward a wall. In the mean time, her temperature elevated back up to 99.9, & due to bone marrow suppression from being ill for so long, her hemoglobin (red cells) dropped from 10.5 to 7 over 6 hours. A decision was made to do an immediate blood transfusion. During the transfusion a rash began to appear on her neck, & continued to grow all over her body for the next 2 days. With symptoms of elevated temperature and the rash that still remained, doctors speculated she now had Roseola or a reaction to the antibiotics. Her diaper rash had become irritating to her, as she cried with every bought of diarrhea & her skin around her central line had become irritated from the port popping out & being reinserted a couple of times each day. By Jan 10 she was looking almost back to her normal self which was a huge relief to everyone. She was prescribed Prevacid to decrease GI acid production, received a second blood transfusion, then went home on Jan 13. The biggest change we saw in her after this episode is that she absolutely refuses to take her bottles by mouth, so she if fed almost solely by g-tube. With over one week of healthy days, we felt confident leaving her at home with my dad to go to Florida for 3 days. When we got to the airport on Monday Jan 22 for our return flight to Columbus, we found out she had been vomiting all morning & was back in the hospital. This was only a 2-day stay & very uneventful. She returned home on the night of Jan 23 & is doing well.
December 2006 Gwen is 10 months old & doing very well! In July we met with a pediatric surgeon to discuss possible g-tube & port-a-cath placement, so we could avoid the suffering she faced with placing an ng-tube through her nose every day & the pain she had to endure with emergency IV placement & routine blood draws. The surgery was completed in August & was a great success! Gwen has been much happier & healthier the past 3 months. She says "Mama" & "Dada" at least 100 times a day. She's recently started rolling across the room with ease. Very soon, we expect her to start crawling, as she's been getting up on hands & knees. So far, she only goes in reverse : ) With her Jumperoo, she really strengthened her legs & has shown some interest in trying to stand with assistance. Just last month she got her first 2 teeth.
Christmas proved to be a challenge for Gwen, as she struggled through 3 weeks of illness, most of that time spent in the hospital. She had to be kept on fluids, fought high ammonia levels, vomiting, fevers, several treatments, & 2 blood transfusions to boost her low red blood counts. She finally came home from the hospital on January 13 & is doing very well.
Gwen has to be one of the sweetest babies in the world, & we are very lucky to be her parents.
June 2006 Gwendolyn Grace was born at 3:33 p.m. on February 3, 2006. She will soon be only 5 months old, but has already brought a lot of drama to our lives! She was diagnosed at 3 days of age with Propionic Acidemia. At 2 days of life we found ourselves at Columbus Children's Hospital emergency room only hours after being discharged from the hospital of her birth. We were quickly transferred to the NICU, where we spent the next 2 weeks. That first night at Children's, her ammonia level reached over 1,500 & she had stopped breathing. The fantastic medical staff acted very quickly. Gwen was intubated & put on dialysis. We nearly lost her a couple of times during that stay, but she pulled through. She ended up having another episode less than 2 weeks after being discharged. Once again, she pulled through magnificently. We have quickly learned the fragile nature of good health, the strength of a family, along with the amazing power of prayer. Our baby girl is nearly 5 months old & seems to be beating all the odds. Despite her rough beginning, she is meeting all her early milestones. Gwen has an awesome fan club, including her brother, parents, grandparents, aunts, uncles, cousins, doctors, nurses, teachers, & friends. We are so grateful for their love & support.