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 it's 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 for Parainfluenza. Less than 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 inital 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 bacteria (Serratia marsecens) grew from the initial cultures on 9/26.  This bacteria was also suceptible 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 tolorated 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 everyoe 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 laugh 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 temperal 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!

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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!!!

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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.