Day One

We started our morning by getting everything we unpacked all packed up. We took a shuttle to Texas Children's Hospital where we were met by Dianne - the study coordinator. The first three photos are in the hospital lobby. She showed us to our lovely room on the 10th floor. It is a big room with room darkening shades :), lots of closet space and a private bath. It's nicer than the Best Western than we were in last night but not quite as nice as a Ritz Carlton! See Chloe on the couch with Sasha (4th photo). Chloe's nurse is Sherrie & she was quite nice.

Our first appointment was a visit to the eye clinic. Chloe hates eye drops and they put in three different types. In the clinic we received bad news & good news. The bad news...Chloe's eyes are much worse (far-sighted) than the MD in Colorado Springs had said. The good news...the MD here would NOT put glasses on her at her age. He said that unless her eyes cross that the glasses won't do her any good.

After the eye clinic, Chloe couldn't eat until her swallow function test. Her test was at about 1:00pm. The 5th photo is of Chloe & Sasha on the way to the swallow function test. She as a real trooper. She didn't like the getting ready for the test part (see 6th photo) but she did a great job eating the barium filled pudding, barium drink and the barium covered yogos. She was so hungry. More good news/bad news. Good news...she didn't have any food go into or near her trachea. Bad news... she may need more therapy as she is not chewing her food very well. She doesn't push it back and forth across her mouth. She uses sort of a rudimentary chomping motion. The speech pathologist thought maybe she didn't like certain textures (meat) because she cannot chew them well. This, however, doesn't explain her love of crayons, marker tips, play-dough, or rocks.

The highlight of my day was meeting Dr. Potocki. She asked a lot of questions & told us a little bit about her & Dr. Lupski. She will be back tomorrow. Actually, this visit was trumped only by the fact that Dianne told us that Chloe is doing well compared to some of the kids they have studied. She isn't speaking any better but Chloe was a signing machine today (thanks Tamara). Dianne was impressed by this. She was most impressed, however, with Chloe's ability to jump!

Our third appointment for the days was a hearing check. Chloe was a good girl - sort of. She didn't tolerate the ear plugs that they wanted to use for the test but she did a good job in the sound room. She had to place pegs in a board every time she heard a sound. She did a very good job at that. She also passed the same test she had as a newborn hearing screening. They concluded that she could hear very well in at least one ear. Because she would not wear the ear plugs, she has to re-take the test in the morning. She was a little worn out by the hearing test and didn't want to cooperate. They said a "do over" would be best to determine if she was hearing primarily out of one ear or the other.

As you can probably imagine, Chloe had no nap today. So, at about 4:15pm, we came back to our room and I was in the quandary every mother faces. Do I keep her up because it is too late for a nap or put her down knowing it is too early for bed. I chose to keep her up and we went to the library. She looked at books filled with babies. Another little girl walked up to her & Chloe tried to show her a photo of the baby by saying "baby". The little girl screamed, "I am not a baby. Mommy, she called me a baby." At first Chloe didn't catch on and continued to try to show the girl baby photos and the girl kept yelling and saying she wasn't a baby. Then, Chloe caught on and rather than trying to show her baby photos, she just kept saying "baby" to the girl to get a rise out of her. It worked every time!

We went back to our room (see 7th photo - Chloe in bed eating dinner). She looked so little eating in that big ole' bed. After dinner, we watched a Brainy Baby show. At around 6:00pm the nurse informed me that they would like to put Chloe in a crib for the night. Chloe wasn't happy about that. I was okay with it except when they said that they would remove the real bed - bummer. You can't have both so I am on the "futon" in the room. She went around to everyone in the hallway (nurses, aids & housekeeping) and told them "nigh, nigh" and at about 6:30pm, Chloe all but passed out.

I was worried about Chloe going to bed without any Melatonin tonight but I don't think it will be an issue. She is already asleep. I just hope she stays asleep. I am in my "office". Yes, I have pulled a chair and the bedside table into the bathroom so that I can write this and finish filling out paperwork. I am tired too and will probably hit the sack in just a few.

Thanks for your comments via email & blog replies and thanks especially for your prayers! We are doing great so far! Tomorrow we see an ENT and I spend hours with a behavioral MD talking about Chloe. Cannot remember what else is on the agenda but I will update tomorrow night.

Houston...At long last!

We are finally here!!! It was a fun weekend preparing for our trip. Joe left on Friday for a church retreat. My friends and I had a garage sale on Saturday. Saturday night, my friend Laurel and her two boys spent the night. Chloe was exhausted after a busy day and went to bed at 6pm. She got up at about 5:30am, ready to head to Houston. Laurel was a lifesaver - she fed the kids, loaded the car, cleaned up, etc. It was Quinn's first official "sleepover" with a friend. Everyone had a great time and it made getting ready a whole lot more frantic & fun!

Quinn said he would call me every day but then later informed me that he had conference calls all night tonight, one right after the other. Go figure...

Kiki (Aunt Carrie) took Chloe and I to the airport. I realized last night that this would be the most time Chloe and I have ever spent alone together. The hazards of being a second child, I guess. At any rate, coming the Children's Hospital in Houston wasn't exactly what I had thought would be our first "girl's trip" but we are going to make the best of it!

Chloe was perfect on the flight! We read books, she hid in the pillow case from the airline pillow, ate lots of snacks and opened and closed her window at least 52 times. After our two hour flight, we took a 45 minute cab ride to our hotel. She was a good girl on the cab ride too.

After we checked in, we decided to walk to the park. It was probably almost 1 mile away and Chloe ran the whole way. The Houston Zoo was in the park so we went to the zoo! Chloe loved the birds & the monkeys. We had a great time looking at animals and she devoured a big salty soft pretzel! Do you remember when Dustin Hoffman played "Rainman" and all he talked about Jeopardy all of the time? "It's time for Jeopardy, Jeopardy's on soon, I don't want to miss Jeopardy", etc. That is exactly how Chloe is with babies only times a million. Next time you go to the zoo, check out how many babies you see. Keep in mind that strollers (even when occupied by a 5 year old) also means baby. I bet I heard "baby" over 300 times while at the zoo for two hours. "Baby, see, Baby, Hi, Mommy - baby". Ironically, she didn't care at all about the baby elephant!! I thought he was the cutest baby in the entire zoo.

I forgot to bring my camera to the zoo so the photos aren't that great (phone). When we got back to our room, Chloe kicked back for a while, had some milk and then decided it was immediately time for "nigh nigh". She found her jammies, laid down and demanded I put them on. Once she decides it is time for bed... it is time for bed!!

We have a busy schedule this week as Chloe is being examined from head to toe, inside and out. She will be seeing both Dr. Potocki & Dr. Lupski. Dr. Lupski also has CMT. I cannot wait to talk to him about living with CMT. We are supposed to be at the hospital around 7:30am but the shuttle leaves at 7am so it is time for bed for mommy too.

Please pray that Chloe tolerates all of the testing, that the people we see have good things to say about Chloe's health, behavior and progress and that we aren't too close to the maternity ward (babies)!

I will let you know what we find out as the days progress!

Amy

Getting to Houston

It has been an amazing ride getting to Houston. It started about 2 years ago when we realized Chloe was missing many of her milestones. We started doing test after test after test! We found out she had Charcot Marie Tooth Syndrome (that will affect her hands & feet in the future). CMT is due to having extra material on chromosome 17 (gene PMP 22). Her geneticist said that this had nothing to do with her delays and that they were likely just that, delays. He was certain Chloe would catch up.

We were glad to hear this but I had a gut feeling. You know those motherly instincts that are usually right. In April of 07, a study by Drs. Potocki & Lupski was published and it was about Potocki-Lupski Syndrome (creative, right?). It is a sydrome also caused by extra material on chromosome 17 (gene RAI1). I took the study to Chloe's next appt. with Dr. Scharer to prove to him that she had this syndrome. He also brought the study to prove to me that Chloe didn't have this syndrome. He said he wasn't going to test her for it because it was clear that she didn't have this syndrome. I told him that he really needed to test her for it just to put my mind at ease. Sure enough, a few weeks later, I received an email (yes, an email!!!) saying that she did, in fact, have Potocki-Lupski Sydrome (PTLS).

I immediately hunted down Dr. Potocki and we talked for a good while. She asked us to be a part of her study. That was 10 months ago!!!

Blog Name

Wow...I am a blogger. I can't believe it. I received an email from my cousin, Tiffany. It reminded me a little bit of life with Quinn & Chloe. It's a different world. At one time I traveled, went skiing, ate in fancy restaurants, received performance appraisals and bought clothes for myself. Now, I build cathedrals, hence the name. Read on...

It all began to make sense, the blank stares, the lack of response, the way one of the kids will walk into the room while I'm on the phone and ask to be taken to the store. Inside I'm thinking, 'Can't you see I'm on the phone?' Obviously not; no one can see if I'm on the phone, or cooking, or sweeping the floor, or even standing on my head in the corner, because no one can see me at all. I'm invisible. The invisible Mom. Some days I am only a pair of hands, nothing more. Can you fix this ? Can you tie this? Can you open this?? Some days I'm not a pair of hands; I'm not even a human being. I'm a clock to ask, 'What time is it?' I'm a satellite guide to answer, 'What number is the Disney Channel?' I'm a car to order, 'Right around 5:30, please.' I was certain that these were the hands that once held books and the eyes that studied history and the mind that graduated summa cum laude - but now they had disappeared into the peanut butter, never to be seen again. She's going, she's going, she's gone!?; One night, a group of us were having dinner, celebrating the return of a friend from England. Janice had just gotten back from a fabulous trip, and she was going on and on about the hotel she stayed in. I was sitting there, looking around at the others all put together so well. It was hard not to compare and feel sorry for myself. I was feeling pretty pathetic, when Janice turned to me with a beautifully wrapped package, and said, 'I brought you this.' It was a book on the great cathedrals of Europe. I wasn't exactly sure why she'd given it to me until I read her inscription: 'To Charlotte, with admiration for the greatness of what you are building when no one sees.' In the days ahead I would read - no, devour - the book. And I would discover what would become for me, four life-changing truths, after which I could pattern my work: No one can say who built the great cathedrals - we have no record of their names. These builders gave their whole lives for a work they would never see finished. They made great sacrifices and expected no credit. The passion of their building was fueled by their faith that the eyes of God saw everything. A legendary story in the book told of a rich man who came to visit the cathedral while it was being built, and he saw a workman carving a tiny bird on the inside of a beam. He was puzzled and asked the man, 'Why are you spending so much time carving that bird into a beam that will be covered by the roof, No one will ever see it. And the workman replied, 'Because God sees.' I closed the book, feeling the missing piece fall into place. It was almost as if I heard God whispering to me, 'I see you, Charlotte. I see the sacrifices you make every day, even when no one around you does. No act of kindness you've done, no sequin you've sewn on, no cupcake you've baked, is too small for me to notice and smile over. You are building a great cathedral, but you can't see right now what it will become. At times, my invisibility feels like an affliction. But it is not a disease that is erasing my life. It is the cure for the disease of my own self-centeredness. It is the antidote to my strong, stubborn pride. I keep the right perspective when I see myself as a great builder. As one of the people who show up at a job that they will never see finished, to work on something that their name will never be on. The writer of the book went so far as to say that no cathedrals could ever be built in our lifetime because there are so few people willing to sacrifice to that degree. When I really think about it, I don't want my son to tell the friend he's bringing home from college for Thanksgiving, 'My Mom gets up at 4 in the morning and bakes homemade pies, and then she hand bastes a turkey for three hours and presses all the linens for the table.' That would mean I'd built a shrine or a monument to myself. I just want him to want to come home.. And then, if there is anything more to say to his friend, to add, 'You're gonna love it there.' As mothers, we are building great cathedrals. We cannot be seen if we're doing it right. And one day, it is very possible that the world will marvel, not only at what we have built, but at the beauty that has been added to the world by the sacrifices of invisible women.

Sometimes, with Chloe, imagining the future is so hard. Then I remember, I don't have to imagine the future, for God has it all planned out and it's perfect. I have to remind myself of this with some regularity, however, the reminders are necessary less often than they used to be.

This past week, we went to the funeral of a 10 year old girl who never uttered a word and spent her life in a wheelchair. Amazingly, Madison had touched the lives of many, many people with her big smile and loving eyes. Did God have a purpose for Madison's life? He sure did!! Even as she lay in her casket, Madison reminded me of the precious little time we may have with our children and that each day is a blessing - even if it is a poopy pants, whiney hiney, "she hit me", "I hate this dinner" and yogurt on the ceiling kind of day.

One more thing...one of the women I respect the most is a woman for whom I used to work. She loves her husband, loves her kids, loves her job and seems to love life in general. She has never said her family is perfect, in fact, one of her sons has some learning disabilities too. I can tell you this...hers is the house at which all of the kids (and grown-ups) want to be. That's my goal for now. I just want to be Mrs. C & have my kids & their friends like being at our house!

Stay tuned for blogging from Houston!