Better to laugh than to cry!!

It has taken me a few days to find the humor in last week Wednesday. I think my life might be out of control - what do you think?
Joe took Chloe to school. Quinn and I were supposed to take Mitzie to the groomer. My friend, Laurel was relying on me to watch her two boys for the day. Sometimes things don't go the way we plan...
I was about to leave for the groomer when the phone rang. It was the credit card company with whom we have a 0% interest rate to pay for the vending machine business we bought (part of our "get rich slow & painfully scheme"). We owe about $10,000 and we have to pay $159 per month. At any rate, somehow I shorted them $31 on my last payment. My payments would now go from $159 to $440 due to the jump in interest rate to 29%!!! The lady on the phone was so kind as to waive the $39 finance charge. She also told me to call the next day after my $31 payment posted to see if maybe they would bring my payments back down since this was my first incident.
We raced out of the door to the groomer where we arrived 20 minutes late. The groomer said, "Mitzie is very late and you will have to reschedule." With Mitz in tow, we headed in to buy her some dog food only to find they didn't have her kind in the size we needed. As we were about to leave Petco, my phone rang. It was Chloe's teacher. Chloe didn't seem to be feeling well and I needed to come & get her.
I called Laurel & she found someone else to watch her little guy (Alex) and we would meet at McDonald's so I could pick up Joey since Laurel was now going to be late for work because of me.
I started toward the preschool, missed my exit and took the long way. We finally arrived and Chloe was on her way to recess. She was SO SAD that she had to come with Quinn and I vs. going "si" (outside) with her friends.
The afternoon went pretty well except that Chloe wouldn't take a nap - a time that I rely heavily upon for my own sanity. I used to feel guilty about this but I decided that I was a better mom when I had those 1.5 hours to myself.
That evening, I picked up the phone to call my mom only to find that our long distance had been cut off due to lack of payment! OMG (that Oh My Gosh in blog language). I added a fax line a few months ago but I failed to change my automatic bill pay. Since I have automatic bill pay, I don't open the phone bills, I just shred them (doesn't this sound like an attempt to simplify my life?). Well, each month I owed the company about $40 more than I was paying. I had received a notice about this the Saturday before we left for TX. The phone company isn't open on weekends so I assured myself I would call from TX on Monday morning. Does that sound as funny to you as it does to me at this point?
My formal dining room table is covered in Hotwheels Tracks. My formal living room is a playroom & Chloe is now in the "let's pull all of the books off the shelves" phase of her life. Why do these have to be the first two rooms when you walk into the front door of my house? We have an awesome, really big playroom in the basement. I don't think the kids would even miss it if we walled it off...it is much more fun to be in the thick of things upstairs.
One final note. I was so excited to have bought a book about getting organized. It was written by the guy from HGTV who goes into homes & organizes them (we don't get HGTV but this info. was on the cover of the book). I read the first two chapters and I was feeling very empowered & enthusiastic about getting organized. I lost the book.

The Real Cunningham Family

Photos: Quinn not getting his way; Quinn's pretend angry face; the Queen of Bed Head (no enhancements necessary); Amy posing for another photo by Quinn

I have gotten a lot of comments about how cute Coco looked in all of the photos. Believe me, you didn't get the first photo I took each day :). I thought I would clue you in on what we really look like on any given day.

School - 4 days per Week

Another good news - bad news day. Chloe was so excited to go to school today. She hadn't been there in two weeks! She kept saying "coo", "coo" all morning. She uses her sign with the "coo" so we know she means school. When Joe dropped her off, they told him that she would be starting 4 days per week next week!!! It was so much easier than I thought. Chloe will love it and hopefully she will continue to make progress.

Bad news...they called me to come and get her about 30 minutes after she arrived. Apparently she was pulling on her ear & very fussy. Off to the doctor this afternoon.

Quinn has a friend over and they were all downstairs. I asked if they were being nice to Chloe & they replied, "yeah, really nice. We aren't even shooting her or anything." I guess, in 4.5 yo talk, that is a very good thing.

I have included a picture of Chloe at the airport. I wanted you to see how flexible she is. Check out how she has her legs intertwined.

It Takes a Village!!!

Sometimes I surprise myself - using a quote from a Clinton. Let's just pretend someone else said it because it is actually true!

While we were in Texas my friends helped so much. Two of the days I was gone, my friend Amy had Quinn. Quinn & Peyton had a great time. My friend Laurel kept Quinn until 7:30pm one evening. Joey & Quinn weren't ready to part when Joe came around 5:00pm. That said, we were once again finishing up our taxes and Joe took this as an opportunity to find the post office that would postmark them for April 15 :).

Despite the fact that I am back, the village continues t0 help me raise my children! Chloe had therapy at 9:00 and 10:30am yesterday. Quinn had school & karate until 12:15pm. He had to be at speech by 1:00pm. So...I had to take Chloe to Dena's house to eat lunch & take her nap. As a result, I was running late to get Quinn from school so I called Laurel & she stayed at school with Quinn until I got there. I rushed back to Dena's to get Chloe because I had to get to sign language by 3:30pm (so I thought). I got to my friend Patsy's house (sign language is held there) and no one but Patsy & her kids were there. I asked where everyone was and she reminded me that sign language doesn't start til 4:30pm. I am quite sure I have lost my mind. It was nice talking to Patsy for a few minutes though.

What a day!

Welcome Home!!!

When we arrived in Colorado Springs, I had to wake Chloe. She was just exhausted. As we rounded the corner heading toward baggage claim - there were my boys! They were in matching t-shirts made by Quinn. The front said "Welcome Home" and the back was a colorful piece of art. Quinn quickly gave me a book I had wanted & Chloe a baby (imagine that). We were so excited to be back together.

We went to dinner at a really neat place - it is a restaurant that was built around an airforce plane. We got to eat in the plane & play in the cockpit. Then we headed over to Kiki & Bubba's (Aunt Carrie & Uncle Cory's house). We had to pick up Parker for our sleep over.



We stopped at the park on the way home. Jumped on the trampoline when we got home. Then...Coco was ready for bed!!!

I feel best when I am armed with a to do list and boy am I armed after this trip! I have to get Chloe into 4 days per week school, increase therapies, switch speech therapists, get some support for mommy & daddy (per doctor's orders). Can't wait to get started.

It's great to be back!

Last Day

Photos:
Chloe getting an echo cardiogram
Sharing Sasha with strangers
Chloe & Dr. Potocki
Chloe & Dianne
Ready to go home
On the airplane
"It's over..."

Our final day in Texas was just as busy as the rest. The best news of the day was that we received all good news & not a bit of bad news.

Chloe had her blood drawn first thing in the morning. It only took 4 of us to do that. For someone with low muscle tone, she is a strong little girl. All of her blood work came back normal :). Interesting tid bit - Joe, his mom, my mom, my dad & I all have high cholesterol. In the area that is duplicated on chromosome 17, in addition to the genes that give her PTLS & CMT, she also received 3 copies of the gene that controls cholesterol. Her cholesterol looked great!

After the blood work she had to have an echo cardiogram. This is an ultrasound of the heart - every chamber & every vessel. Over 50% of the kids with PTLS have heart defects, some of them very severe. They thought they might have to sedate Chloe - this would have met extending our stay. But...much to everyone's surprise, she laid there like a very good girl. We did have to get a little creative. Baby Einstein was playing on the TV above her - that was okay for about 3 of the 20 or so minutes. Once she realized that the ultrasound gel was gooey & fun to smoosh through her fingers - she didn't care at all about Baby Einstein. She wanted ultrasound gel & we couldn't get it to her fast enough. She loved it and I bet no one at Texas Children's Hospital has ever used more gel for one ultrasound. Oh yeah - her heart is perfect!!! What a blessing to know this is the case. I have included a picture from the echo waiting room - Chloe sharing Sasha with a couple total strangers.

After the testing, I finished packing up while Chloe roamed the halls & repeatedly had the nurses hold Sasha, look at Sasha, etc. Dr. Potocki came up & reviewed all available test results. More good news - I may have told you some of it but good news is worth repeating. Her kidneys looked great, her hearing was perfect, & she doesn't fit anywhere on the autism spectrum! The report was very clear & it was done by the chief of the department. She said that the only criteria Chloe met was age of onset. Since she was being evaluated at the age most kids start having signs of autism, she fit that criteria. What a relief!

All in all, this was a good week - emotional but good. Joe and I are holding out hope through prayer & perseverance. We feel confident that Chloe will be the 2nd child that is not considered mentally retarded (developmentally disabled is the term used among therapists) at age 7 (when they can test her IQ). All of the things that typically cause problems for kids with PTLS (heart, kidneys, spine, etc.) checked out just right - who is to say that her brain won't do the same. That said, it will take close to a miracle (hint, hint - please pray for Chloe forever).

I enjoyed getting to know my little girl a lot better. It must be hard to be a second child - she has spent very little time alone with us because she has had a brother her whole life. We really enjoyed being with each other and she was such a great roomie :). I look forward to our next trip together.

After our good-byes we took a cab to the airport where we had a 2 hour wait. Chloe was wonderful and she was great on the plane too. She stayed in her seat the entire time & no one would have known she was on the flight. She eventually passed out & so did mommy!!!

Thank you for your emails & prayers. I felt inspired every morning when I read your messages.

Day Four

Photos: Chloe's getting used to the head wrap!
Chloe & Sasha
Coming Undone
All cleaned up!
Chloe & one of the many cows at TCH

What a day this was! Chloe was awakened by a voice over a loud speaker at 6:30am. "Chloe, open your eyes. It is time to wake up. Chloe, you have to wake up now." Remember, she got to bed around 10pm and probably didn't sleep well.

After getting up & dressed, etc., we went for a walk around the hospital to get mommy a few diet pepsis. When we got back, breakfast wasn't there yet and it was time for Chloe's first nap. So, she laid down and we were just about asleep when they turned all of the bright lights back on. After that nap, we watched a show, played in the water at the sink, etc. Soon, it was time for another nap. I talked with Dianne about other kids with PTLS and it was very insightful. So far, Chloe has none of the other health problems that these kids have (other than losing a lot weight after birth & having some difficulty with swallowing & far-sightedness). She has normal kidneys, no curvature of the spine, no heart defects, no siezures, etc. - none of the big stuff anyway.

After that nap, Dr. Potocki showed up to talk with me. We all hung out til Chloe's next nap. At that point, Dr. Potocki & I went out to the hall where she began to show me her slide presentation on PTLS. We got to slide 6 (of 64 or so) and it was a photo of a teen-age girl and one of the bullets said, "Mentally Retarded". I asked why it said that and Dr. Potocki told me of all of the PTLS kids seen to date, only one was not considered "mentally retarded". WOW. In my mind, there is a big difference between developmentally delayed & mentally retarded. I was in shock - complete shock. She proceeded to tell me that you cannot officially label someone as mentally retarded until they are old enough to take a certain IQ test or something (she sort of lost me for a few minutes). I asked her if Chloe would know that she was "different" or "retarded" and that is when I completely lost it. I don't remember crying so hard in my entire life. I actually broke blood vessels under my eyes. I had never considered the fact that Chloe might really be retarded. I had mentioned mild mental retardation to Joe & Carrie (my sister) but it was more of a "in some ways, Chloe might be described as mildly retarded if you didn't know her or if you didn't know what she had". Retarded - what a harsh word. The girl who might get picked on, the child who rides the short bus & attends special classes. This is the girl who doesn't get to get her driver's license or get asked to the prom - the one whose daddy probably won't get to walk her down the aisle. This is a big thing! It was real for the very first time because someone who knew more kids with PTLS than anyone else in the world had said it. Dr. Potocki of Potocki-Lupski syndrome said that these kids are mentally retarded. I couldn't pull myself together.

At that moment, Dr. Powell walked around the corner to come see how I was doing. Thank God for small miracles. They put her and I in a sleep study room and we talked for over 2 hours. We talked about resources and support groups and planning for Chloe's future. Chances are she will live longer than us and who takes care of adult mentally retarded children? Where do they live? Who supports them? How do we ensure that she has the best care possible and that people are always kind to her when we are gone? You don't ask your sister or your friend or your brother to do that. What do you do? How do I come home & start this process? I must admit that I am scared to death. I have never been more scared than I am of the fact that this is all a reality. A shocking, painful, rip out your heart, saddest, scariest reality. Maybe for some of you it might not be, maybe you think it might not be, maybe it is just the newness of it. Perhaps some of you are losing any respect you may have had for me. If so, that's okay. We all cope differently and if that is the case, I don't think you would be the support I need right now.

I am so thankful to have had Dr. Powell tell me that we have to grieve and be sad & mad and all of those things because what we think of when we have children is a real thing - a real dream. It's the hopes you have for your family & for your child's happiness and ...all of the changes. It doesn't mean it is better or worse but it does mean that it is different. A loss of one thing but gaining something else - we have to grieve the loss before we can accept the gain.

Dr. Powell also said that maybe we should begin talking to Quinn about Chloe's special needs. Quinn was talking the other day about the special needs camp we all went to. I asked him if he knew what special needs meant and as I suspected, he said "no". I told him that Chloe was special - that we had to take her to therapists to help her talk and to get her muscles to work right, etc. Most kids don't have to do those things. He added a few comments about therapies & what Chloe was learning. I also told him that it meant that he was extra special because not very many big brothers get to have baby sisters with special needs. He liked that. I am okay with leaving it there for a little while. We'll see what Joe (my personal clinical psychologist & husband) has to say about it though.

I asked Dr. Powell if Chloe would know she was "mentally retarded" and how we would deal with that. She said, "She might know she is different and she might ask you about it some day." She said to tell her, "You are different and that is what I love the most about you. You are special and you will always be my baby girl. I am so lucky."

She is different. Is different better or worse? I will let you decide after you read the next couple things.

On our last visit to Denver Children's Hospital, there was a guy in a wheel chair who was clearly mentally challenged (retarded or crazy). He was dirty and smelled of urine. Chloe walked right up to him and put her hands on his lap and said, "Hi'. Can you imagine how long it might have been since someone did that to that man?

As people come into our room or the elevator, Chloe says "hi" to all of them (& she keeps saying it until they acknowledge her or leave). She cannot say much but she tells everyone she sees "hi." I overheard one nurse telling Chloe, "I just love your little personality."

When I was talking with Dr. Powell today, Dr. Potocki & Dianne took Chloe to video tape her gait. Tonight, when I was talking with Dr. Potocki she told me that as they walked through the hall, Chloe said hi to everyone. She said it didn't matter if they were black, white, hispanic, or indian. It didn't matter if they were old or young, walking or in a wheelchair. It didn't matter if their heads were wrapped in bandages or they had tubes coming out all over them. She just said, "hi". By this time, Dr. Potocki was crying too. Don't you wish that more people were like Chloe sometimes?

What do you think? Better or worse? Maybe just different...right?

Thanks for "listening".
Love,

Amy

p.s. At some point, I will tell you more about what Dr. Powell recommended for Chloe's current intervention plan. School, therapy, early vs. later treatment, etc. Right now I am physically & emotionally exhausted. I cannot wait to get home to see Joe & Quinn!! It's better when we are all together :)

Day Three (a day late)

Playground



Photos:
Chloe & Sasha getting their vitals
Chloe & her favorite CNA (Mariam)
EKG
Playground at TCH
Chloe, Sasha & Dr. Potocki
Ready for bed!

Today started of fun and ended not so fun. This morning, Chloe had a play date with a psychiatrist. May not sound like fun to you but she had bubbles, babies, play-dough, etc. Coco had a great time and the psychiatrist thought Chloe was wonderful.

She had an EKG mid-morning (see photo). She did well with that. Very good girl.

After that she finally took a much needed nap. I talked with a genetic counselor & Dr. Potocki during this time. I found out that our geneticist should have known Chloe's diagnosis of PTLS for more than a year before we got it. We knew she had a duplication on chromosome 17 cince June 06 and we knew it caused CMT. He told us that this didn't have anything to do with her delays. Dr. Potocki went through all of her medical records and her first genetic test showed dup p11.2 (PTLS). Had we known that a couple things would have changed...we would have started the grieving process a year sooner, we would have been down here a year sooner and I would have learned how good school & therapies are for Chloe (more important than we even thought). This was hard news to handle.

After Chloe's nap, we had an appt. with a child psychologist who works with only families with at least one developmentally delayed child. Chloe was asked to do some activities and the Chloe that challenges me daily came out for them. They were the first to see her challenging behaviors (other than during medical testing which I think is normal for all kids her age). She was defiant, sassy, and uncooperative. This made me feel sad after such a wonder first 2.5 days. The doctor wanted to talk to me alone for a while. This was the hardest part of the trip so far. I don't know how much I should write about this because I don't want you to look at Chloe, our family or me any differently. Keep in mind that Chloe is the same child today as she was before we came to Texas. Now, we have more information and the information was very difficult for me to handle emotionally. In fact, I later learned that Dr. Powell (the psychologist) called Dr. Potocki & Dianne immediately my appointment with her. She said, "This woman is headed for a break-down and I am quite sure it will happen this week." (Keep in mind this was yesterday and I am a day late in writing this blog). In many ways this blog is very cathartic for me and if I share too much, I am sorry.

Our conversation started about Chloe's behaviors and how they impact our family. She asked a lot of questions about Quinn and our marriage, etc. I told her that Quinn cannot build, create, draw or do anything without Chloe destroying it. I also told her that Chloe hits Quinn repeatedly throughout the day. At 4.5, he should be able to build towers & super heroes and other things without always having them destroyed before he gets to show someone. He shouldn't have to be hit regularly by his little sister. I know that this sounds like sibling rivalry to most parents, however, it is very one-sided in our home. Quinn puts up with a lot. He has been asking for a lock on his door for a long time because sometimes he just needs to "get away". The psychologist actually said that we should get him one - something we were adamantly opposed to. I also described how Chloe gets locked out of the room when other kids come over because she cannot control her behavior around other children. She doesn't know how to play. They don't want her around and she wants nothing more than to be included. Bottom line - I was feeling so bad for both of my children by the time this session ended that I had begun to break down. It sort of concluded with her telling me that we aren't like other families because we have a special needs child and our lives would always be different. Even though I knew (in my brain) that Chloe would never "catch up", I had some hope in my heart. Having someone say that your life is different and it always would be was hard to hear - at least for me. It is hard to describe some of these feelings but I am prayerful that you will have even the slightest understanding. Because no one we have ever seen (doctor-wise) knows anything about PTLS, hearing this from someone who has seen multiple PTLS patients was just hard.

Well, I recovered after my sweet daughter came into the room and kissed my arm when she saw me crying. I got a grip and headed back to our room to pack for the sleep study. Chloe and I then went to the playground (see photos). We had fun doing that and it was a beautiful day.

A little after 7pm, we headed up to the 21st floor. It is the top floor of the hospital but I always thought the penthouse suite would have large windows with beautiful city views. However, it was a dark, quiet room with no natural light. It was then that I learned that not only did she have to sleep with all of the sleep study stuff (which took about 1.5 hours to put on), she would have to take 4 forced naps throughout the day! We pretty much had to stay in that room all day and she had to take 4 twenty minute naps spaced about 2 hours apart.

Chloe was a trooper - she hated every minute of the cannula & the tape & the hat, etc. but she survived. Dr. Potocki (an amazing woman) stayed almost the whole time they worked on getting Chloe ready (see photos).

We finally got to bed close to 10pm, I think. Oh yeah, they wanted me to sleep with Chloe so I could be sure she kept her stuff on. They use the term sleep VERY loosely. After a while, I gave up and moved to the couch. She was on top of me, kicking me, wrapping cords around me, etc. Neither one of us would have slept at all.

Night One & Day Two

Photos - Chloe in the rocker in our room, Chloe trying convince to let her sleep with me tonight, Chloe in her crib (cell).

First night without melatonin - Chloe did okay falling asleep. Staying asleep was a different story. About 1am, she woke up and wanted water & to come into my bed. I told her no as I didn't want to start something but she wouldn't let up. So...in an attempt to get some sleep she joined me in my single futon bed. After about 1.5 hours or so, we were both back to sleep and the nurse came in to check her vitals! Urgh! She went right back to sleep and my cell phone alarm went off at 6:30am (forgot to turn it off from Monday). We fell back to sleep and finally woke up around 7:15am.

Today was another very busy day. We went to a speech and language assessment where Chloe scored about 2 years & 8 months on comprehension. That was the good news! The woman was very impressed with Chloe's ability to understand things and thought she may have scored higher than the little girl who was here 3 weeks ago - she was four years old. The bad news was that she scored lower than a two year old for expressive communication. She could name most things but didn't know hers vs. his, colors, shapes, etc. She also doesn't complete very many words and this brought her score down as well.

We went straight from there to finish the hearing test she started yesterday and she officially passed in both ears! Dr. Potocki and a genetic counselor walked us back to our room from there and we talked until my next appointment with a psychiatrist. This was the most painful part of my day. Two hours of questions on my child's behavior - does she point or take you by the hand to show you something? When she points, does she look at you and then the object and then back at you again? Things you don't think about until someone asks you a million questions about it.

While I was at that appt., Chloe had an appointment with radiology. They looked at her kidneys, liver, etc. They also did an x-ray of her spine. From what they could tell, everything looked great (more good news). Unfortunately, we have to have a "do over" on the spine x-ray because she wouldn't cooperate while getting the side view. When Dianne & Chloe met me after our simultaneous appts., she told me that she just didn't want to make Chloe scream by holding her down. She said this as she led me to the ENT who put drops in Chloe's nose & proceeded to stick a long tube down her nose into her throat to look at her vocal chords. All of this while Chloe screamed because I was holding her down. More good news - Chloe's vocal chords look great! So do her ears and the back of her throat.

Chloe was pretty fed up by the end of our appts. (4:30pm or so). We got back to our room and the nurse wanted to take her BP & temp. She gave up!

Chloe & I finally did some girl stuff on our girls' trip. We went out to dinner & shopping. Coco got several new outfits & I got hairspray :). We went out for Thai food. Chloe ate ice for dinner despite having a huge bowl of fried rice in front of her. She did, however, have fortune cookies for dessert. After dinner we bought Quinn a little surprise & headed back to the hospital (about a 25 minute walk to shopping, etc.).

Tomorrow we have a lot more appointments and then we head up to the 25th floor where they will study here sleep in an environment in which it is all but impossible to sleep. She will have the wires attached to her head & they will put a cap over that. Then, they will put a cannula in her nose to test her sleep on different levels of O2. She might surprise me and sleep because she is one exhausted little girl. Three days with no naps!

She is bringing joy to tons of people down here. The nurses love her & Sasha! Sasha has had her blood pressure & temp taken 3 or 4 times. Chloe greets everyone that gets on the elevators or sets foot into our room. I couldn't find her at one point and I walked out to find her sitting on the lap of one of the nurses at the nurses' station.

Houston is so pretty. Green trees with leaves (not needles) and green grass (not brown) and warm, sunny (not cold, sunny) days. A preview of the coming months in Colorado Springs - I hope.

Knowing we have another big day tomorrow - I better get to bed. I sort of thought I would have a relaxing time while Chloe napped & slept and went to appts. Not so...haven't read one page in any of the books I brought. I did get to read a little bit of my Parenting magazine after Chloe went to bed & ended up in a laughing/coughing fit while reading this...

What words have come out of your mouth that, before becoming a mother, you never imagined yourself saying...

We don't play with our poo, please.

This is not yelling. THIS IS YELLING!

No more wetting your hair with your spit, okay?

Wow, vegetables, yum, yum, yum.

Nobody touch anybody ever again! (this is where I lost it!)

Get the plunger out of your mouth. Yucky.

Who couldn't add a few to that? Things like..."Back up so I can flush." or "Those are your privates, if everyone was supposed to see them, they would be "publics" - now put your underwear on!"

Okay - now I am just humoring myself. Thanks for all of your messages & prayers.

Love,

Amy

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!