Last night, I sat down to work on this site for a bit – trying to finish all the odd pages that just have “Under Construction” written on them. While I was working, I decided to do something I hadn’t done in a long time: I just plugged Katy’s karyotype into Google and let it rip. Imagine my surprise when a medical article I had never seen popped up.

For months, I’ve had Google alerts for all sorts of variations on “chromosome 6 deletions,” “chromosome deletion research,” “6del” and the like; but for some reason I had never entered an alert for “46,XX,del(6)(q13q14.2).” So, here I am, stunned to see this possible new information. Now, it’s not perfect. the deletion in the journal is actually 6q13-q14.1 – not 14.2. But that’s close enough to catch my eye.

(WARNING: BORING MEDICAL TERMINOLOGY EXPLAINED NEXT. “q” stands for the long arm of the chromosome; “p” would be the short arm. Specifically, what Katy’s karyotype shows is that she has a normal, complete set of chromosomes: “46”; she’s a girl: “XX” – a boy would be XY; that she has a deletion: “del”; it’s located on chromosome 6 – “(6)”; and that deletion is located on the long arm of the chromosome -“q” – from genetic markers 13 to 14.2, both on the long arm: the second “q”.)

After I pony up $40 for access to the medical journal for 24 hours, I realize that many of the articles being referenced in this new one are articles I was never able to find on-line before. So, I give ’em a shot. Low and behold, we’re in business! After about $150 more in access fees (God, you have to love medical research), I’ve got a few more pages of research than I had at the start of the day.

The only problem? There’s nothing new here.

There’s nothing here that I can bring to our insurance company and say: “See, this has had a proven affect on kids with chromosome 6 deletions. Please pay for this therapy!” I’m basically paying out a lot of money to confirm things I already knew. Such is the pattern, unfortunately, with my little girl.

This morning, Katy’s Nana – my Mom – underwent knee replacement surgery. So Papa, who usually takes Katy to school every day, was at the hospital and I took my little sunshine to class. Oh boy.

Do you remember the movie Mr. Mom? And the scene where he’s taking his kids to school for the first time and they keep telling him “You’re doing it wrong!” Katy didn’t use the words, but she let me know I was “doing it wrong” all the same. First mistake: I carried her into her classroom. See, Papa pushes her in a stroller. Didn’t seem like a big deal at the time. Someone should check my head. Second mistake: I didn’t just drop her off and leave. I tried to calm her down. You know, silly me, trying to comfort my daughter! Katy’s assistant, one of her therapists and her teacher finally – mercifully – just told me to leave. She was fine within seconds evidently. We, then, repeated this again at dismissal three hours later. Nana is no longer allowed to have surgeries or issues of any kind that involve a change in Katy’s daily schedules. 😉

Thankfully, on a serious note, Nana is doing fine. Visited her in the hospital later on in the evening and she looked great. She had just been given another dose of pain meds which may have had something to do with that. Nevertheless.

I feel like I’ve written a whole lot about absolutely nothing at all tonight. Sometimes I need to remember that we don’t have instruction manuals for the other kids, either. That sometimes there just aren’t any answers. It’s funny, my senior quote from high school was a tagline for a “Nike” commercial that said simply “There is no finish line.” Looking back now, that quote has even more meaning for me. Every fresh start is the end of whatever came before it. Every finish is just the beginning of something new. And we take one step to get to the next one to get to the next one. We can never stop trying to find answers for Katy. Every answer just brings more questions. But somewhere down the line, I’ll be able to look back and see not starts and finishes – not questions and answers – but simply an incredible life.

Trust in hope.

Reminder to Shel and I: do not let her doctors prescribe her any liquid medicine. She just won’t take it. Following surgery on Wednesday things fell apart pretty quickly for her as the pain killers wore off. Unfortunately, Wednesday and Thursday nights also happened to be the scheduled dates for a sold out movie festival I run for Alpine Shop here in St. Louis. Talk about feeling like a failure as a parent and as a husband. There was almost nothing I could do. And Katy made sure I knew she was pissed.

Poor Shel. She had to deal with an absolutely miserable little girl for both Wednesday and Thursday nights pretty much on her own. I don’t know how she did it. Sorry, Honey.

The good news? She’s gotten steadily better through the weekend. The bad news? She’s still determined to be outside at all times and when she’s not, she’s throwing a fit.

So, an Easter Egg Hunt should be the perfect solution, right? Here are some shots from Sunday:

Not so sure about hunting for them, but Katy loves playing with the eggs.

Doesn't get much cuter than this.

"Let Mommy help you."

The word for this easter: "Money!" Not sure where or how she learned it, but she knows it.

Proof of crawling.

About as much as I could hope for in an Easter Egg Hunt Pose.

Everything has seemed to go well for surgery today. Hopefully, this will successfully block urine from traveling back up her ureters into her kidneys. (The condition she has is known as “reflux.” The procedure today is known as “deflux.” Very original.)

The day started off really well when the kind lady at admittance gave us an extra medical band for Muno, meaning both Katy and Muno could have matching “bracelets.” You’d be surprised how much that kind of thing actually helps.

Doesn’t matter how many times you do something like this, it just plain sucks watching them take your little girl behind those doors. When our pager went off to let us know she was done and they would be bringing her out, I think I may have left everything back in the waiting room and just made a bee-line for the door. As I see the nurse rolling a bed down the hall behind the doors, I suddenly see Muno rise up off the bed and a little arm waving him around. Yep, that’s my girl.

By the time we were actually released, there was only one thing on Katy’s mind: home.

We’re not out of the wood on this thing yet. She still needs to pee before 8 pm tonight or we have to catheterize her ourselves (something we know how to do, but hate doing anyway.) Then, we have to go back in June to see if this procedure has actually worked. How do they do that? They run the same god-awful test they did last November. They’ll catheterize her, fill her bladder up with liquid, take x-rays and see if anything is going the wrong way. I’m just hoping this time they don’t keep filling her up until she pees. Katy held nearly 3 liters of liquid in her bladder last time.

Thanks for everyone’s well-wishes! We’ll keep the updates coming.

Todd and Shell

Half a day from now, my little girl will be placed under the influence of anesthesia for the fourth time (I believe) in her life. Tomorrow morning Katy’s deflux surgery begins at 9:30 am at Cardinal Glennon.

This has been a strange lead-up to this event. After the original surgery was postponed, all the expectations and fears with something like this just went into limbo. I know they’ve been wearing on Shel and I. It’s just that it’s happened behind the scenes. It hasn’t been something that we have really discussed since January. I can remember Katy’s first surgery on her hip. We sat up for hours and hours wondering if we were making the right decision to do this to our child.

This time? We’ve been so busy with life in general, it’s like the stress of this has snuck up on me. Looking back, I can tell that I’ve been short tempered with everybody. I’ve been exhausted all the time. I just haven’t been myself. And I know Shel hasn’t slept for the past three days. Have we blamed this on the surgery? Not really. Until today, I hadn’t really even thought about it. Now that it’s here, I just want it over and done.

Katy is definitely Michele and my child. She only wants to be outside. Never mind that she can’t walk and is ruining her clothes by butt scooting over cement, and grass, and blacktop. All she cares about is being outside and she lets us know it. Boy, does she let us know it.

This evening we took advantage of the nice weather and had her gait trainer out on the front driveway. She really had to use all her strength to go up the small incline on our driveway; so much so, that she was exhausted after only about 15 minutes in her walker. Maggie blew bubbles with her for awhile, but Katy wanted the bubble bottle for herself. This is akin to giving a pig mud. Give Katy the bubbles and prepare for bubbles to be all over Katy.

I’m attaching the first video I’ve been able to catch of her crawling (not very far in this one). The best part of this is that she’s actually trying to jump on the trampoline. It’s not that she can’t crawl at this point; she’s actually trying to do something else.

Hope for the best tomorrow. We’ll post as soon as we have news.

Todd

We’ve gone from the lows of the first week and Katy’s seizure to some of the highs surrounding her birthday celebrations. We’ve had some extreme temper tantrums that we’ve never seen before accompanied by our introduction to Katy’s version of headbutts; and we’ve also experienced the joy at seeing Katy crawl nearly 10 feet for the first time (of course no one had a camera!).

People say all the time, “I don’t know how you deal with everything.” I don’t really know how to answer that. Shel and I deal with everything that comes along with Katy the same way you would deal with anything that happened with your kids. Let me be clear on something: I’m not saying we enjoy having to go to multiple doctors practically begging for answers when none seem to be out there for us. But if it was your child, wouldn’t you be doing the same thing? All of our kids have had something happen to them where we had to go to bat for them. And we acted the same way to find whatever answers we could to help our family. And we’ll continue to search for whatever answers there are for Katy.

And if you want to know why, just take a look at the following video and photos from the past couple of weeks.

[qt:/wp-content/uploads/2010/03/KatyCelebratesSaintPats.mov 480 370]

Katy LOVES Birthdays

How close can you get to your birthday candle?

As many of you were aware of already, today was Katy’s EEG and our meeting with her neurologist following last week’s seizure. So, just what did we discover?

Pretty much the same infuriating answer we get every time we go to a doctor, lately: “We’re not really sure…”

Shel and I have just about resigned ourselves to this seeming fact: We’re on our own. Nobody has the slightest clue.

You want to know what I came away with after everything today? Botox. I’ll explain in a minute. We started this morning at 5:30 giving Katy a shower. It was the only way we could think of getting her to actually wake up – and stay awake. And it worked beautifully. She was doing great all day until they started to put the electrodes on her head. This was unacceptable to her. This battle lasted probably a total of two minutes in actual time. Seemed like about 20 to me as I tried to hold my exhaustedly thrashing child in one place. She actually did great after the initial struggle. Went to sleep by about 1:15. I carried her out of the room at 1:45 and we were in Dr. Callahan’s office right at 2. At least the trains were running on time.

But all we got accomplished today was getting a plan in place, pharmaceutically, if another seizure occured. The EEG showed a very similar pattern as the one she had three years ago: spikes in the right temporal lobe of her brain every so often. So, now, evidently, we wait again. And hope this first one was it.

So back to the botox. Shel asks the doc about Katy’s foot issues. Doc asks us: “Have you talked to your geneticist?” Let me tell you something, our geneticist has done exactly one thing for us: convinced us that there may be something else that was causing Katy’s problems and not CP. Since then – absolutely zilch. We’re the ones who have found any articles on the subject. We’re the ones doing all the research. When you have one other person in the world that you know of with your condition, you’re on your own. That hit me really hard today. Eventually, doc tells us this sounds sounds like focal dystonia – which affects a muscle or a group of muscles causing an undesirable contraction. The treatment: Botox. And then hope that the brain can rewire itself to eliminate the dystonic movements.

I mean, what do you say to that? I guess it’s just another issue Katy faces that doesn’t really have a cure. We just keep treating the symptoms without any clue what the underlying problem is that her genetic condition causes.

To top it all off, we get home and Shel finds an anonymous typed note in our mailbox with this on it: “Your front, side and back yards look like a garbage dump along with that fence on the side of your house. Clean the mess up.”

Nothing like understanding “neighbors” to really help you through your day. Not exactly sure where they get “garbage dump” from, but hey, to each their own. I guess when you have a corner lot and everyone can see every inch of your yard, if people want to bitch, they’ll find something. The sad part about the whole thing is that I tried to have our privacy fence up this past weekend, but the ground is still frozen there on the North side of the house. I couldn’t get the posts in the ground! Hell, I couldn’t even get a shovel in the ground. Evidently, I was supposed to take a hair dryer to the ground for a while…

Deep breaths.

For every maddening thing that goes on with our little girl, there are hundreds of precious moments each day and I’m trying to treasure them as much as I can. Today, it was a sudden infatuation with the word “family.” If you said it the right way – and only a certain way – she would belly giggle while she did her version of a dance by wiggling her body all around. A constant dose of this at dinner tonight helped me come out of my post-doctor visit funk.

So, what does it look like? Here you go:

Still waiting to hear from Mayo and just hoping they may be able to give us some answers.

I’m going to wake up pretty soon and realize that my little girl isn’t so little anymore. She turned ‘ive today. (Yes, that’s “five” without the f.) She still has problems saying the first consonant in a consonant-vowel-consonant sound, but wow what an improvement this is compared to a year ago.

The answer to the question on everybody’s mind this week is: “no,” Katy has not had a repeat seizure after Monday. We see her neurologist, Dr. Callahan on Wednesday for an EEG and an immediate appointment to go over results. (Thank God for that.) The most wonderful thing about EEGs for this type of thing is that Katy has to be asleep for them to do the test. (I need a sarcasm font.) It is soooo easy to get Katy just to go to sleep – especially in the middle of the day. They’ve advised us to keep her up two hours later than normal the night before and wake her up two hours earlier that morning. Pray that it works. Otherwise we’re going to have one crabby kiddo on our hands and no information to show for it.

Last night, we had dinner at Pasta House with Nana and Papa for Katy’s birthday. “Happy Birthday” has been one of Katy’s favorite songs since earlier this year when Shel’s Dad came over for his birthday. From the time we sang Happy Birthday to Grandpa Popcorn, Katy has continued to sing (and sign) the song for everyone including herself, Muno (her favorite cyclopian doll-now famous from his spectacular bowling appearance in the Kia SUV commercials in the Super Bowl), Hope – our dog, her See-and-Say toy, a piece of cheese, ice cream, a sock, a cracker and who knows how many other of God’s creatures. Happy Birthday to all is Katy’s motto!

Well, anyway, Katy’s been singing and signing Happy Birthday to herself for most of this week since Shel has been working on getting Katy to saw how old she was going to be. So, most of the way through dinner, Katy’s making sure I know who’s birthday it is in song. We finish eating and our waitress brings out a sundae glass with vanilla ice cream and sprinkles. She puts a candle in the middle of it and lights it. We start to sing Happy Birthday and before we get even a full verse in, Katy gets a huge smile on her face, flaps her arms like she does when she gets excited, and promptly blows out the candle before we’ve even reached her name in the song. Now first of all, I’m laughing because I figure Katy’s thinking “I’ve led the singing of this song 50 times already during dinner. Just cause you guys WANT to sing it now, doesn’t mean I want to anymore.” On top of that, I’m excited because it’s the first time I’ve ever seen her actually blow a candle out. Before, she’s always kind of – I don’t know – misted the candle a bit. You know, just kind of put her lips together and spit everywhere. But, no, this… this was a full blown Happy Birthday candle blow!

She starts cheering and clapping with her impressive birthday feat. We just give up on the song and cheer along with her. Then, she grabs the (now unlit) candle brings it up to her lips and alternatingly blows on it and cheers. (And expects us all to cheer each time, as well.) Finally, we get the waitress back over to light the candle again (and somehow get the candle to stay straight in a quickly melting sundae) and we try to sing Happy Birthday again. This time she allowed us get all the way through.

Didn’t diminish her cheers, though, after she blew the candle out once again. Didn’t diminish our’s either.

Happy Birthday little girl…

I’m getting to the point where I dread Katy’s birthdays.

I know that sounds horrible; but right now that’s how I feel. Just before Katy’s second birthday, she was diagnosed with cerebral palsy. Just three days after her third birthday, she was diagnosed with her chromosome deletion. A couple of weeks before her fourth birthday, Katy began holding her right foot in that strange position that we still can’t figure out. And now, four days before her fifth birthday, our little girl suffered her first documented seizure.

We’d been told if we got past the five-year mark without any seizures, we would be in good shape. In fact, we were talking with a couple during our all-too brief vacation last week about their granddaughter who has Angelman’s Syndrome. They had mentioned the same thing and how their little girl had ended up having her first seizure just five days after her fifth birthday. This shouldn’t have come as a complete surprise to me; we’ve known since Katy was two that there was possible seizure activity in her brain. Now, though, that activity is right in front of us and we have to confront it. Neurology appointments are in the process of being scheduled and we have another EEG in our future. I guess there are just times when you wish we could catch a break.

Now that I’ve just written and re-read that last line, I want to delete it. There are so many kids out there suffering a lot worse than Katy that I know it sounds petty; but I’m going to leave it up there to remind me to be thankful for what we do have and for what Katy has been able to accomplish.

In that spirit, we do want to share some exciting news. For the first time we’ve found another child in America with a deletion that nearly matches Katy’s! Hailey lives in Southern California and will be four in May. Her deletion is at 6q13-14. (Quiz time: what’s Katy’s? 6q13-14.2) What is really interesting is that Hailey is experiencing (or has experienced) many of the same issues we face with Katy, including hip dislocation at birth, bladder problems, strabismus, speech issues and general delay. A couple of other similarities include the observation that Hailey, like Katy, said “Mama” and babbled at just a few months of age but then went silent again and she also relies on sign language for a majority of her communication. Like us, her parents have also gone through multiple doctors trying to find answers.

Hailey is walking on her own, though! And that’s the hope we’re going to end on today.

Trust in hope,
Todd and Shel

The old garage is now Katy's new entertainment and therapy room.

We’ve been reluctant to post anything about the addition for a while because we had – ahem – completely moved in without the final occupancy permit being granted. There were so many little things that needed to happen that kept getting put back because of weather, cost or both.

But we can now say that Katy’s addition is officially completed and we’ve posted new photos of the interior. (Nothing of the exterior yet because I haven’t had a free afternoon to get the Christmas lights down yet!) Two and a half years of planning and nearly 8 months of construction off and on. Now that it’s done, Shel and I are suddenly realizing just how stressful this whole thing was for us.

Katy's bath. Everything accessible for our little girl.

New mud room with enough room for Katy to do anything she pleases in her wheelchair or gait trainer.

The new utility room where Katy's non-stop laundry needs are handled.

This bath is just off the new mud room. It's also accessible for Katy.

With it done, though, we can return our focus to a number of therapies and treatments that we’re discovering more about each day. The trick for us is figuring out which ones can help the most and which ones we can afford! So, what are we looking at? Getting started again with the Anat Baniel Method. We did this briefly about a year and a half ago but didn’t really follow up with it for a number of completely unrelated reasons. Now, however, we’re looking at as a way to help with Katy’s mobility and especially an issue Katy has with her right foot.

For some reason, Katy will take her entire right foot and turn it completely in towards her body. Picture it like this: if I’m holding her in a standing position, her leg comes straight down like normal but the outside of her ankle is almost touching the floor, not her foot. It’s almost like what would happen if you rolled your ankle in a basketball game; except she just holds her foot like this for absolutely no reason that we can figure out – and for days on end. Now the reason ABM holds a lot of interest for us here is because we’re all fairly convinced that Katy is not purposefully doing this. It’s just something that her brain is for some reason telling her foot to do. ABM deals with helping the brain make new connections with the rest of the body. Maybe there’s some way of getting this – and many other of her mobility issues – to improve.

A couple of other possibilities that we’re hearing more and more about: hyperbaric oxygen treatments but we’re not sure how it would relate to Katy’s issues; and even the distant possibility of umbilical cord stem cell therapy – but again, we’re not sure how it would help an issue like Katy’s or if it’s even a road we want to go down.

For now, horse therapy starts up again soon, swimming therapy continues every week, extra speech therapy is going on every other week, and she’s also continuing speech, occupational, physical, cognitive and musical therapies at school. She’s a busy girl. And yet, we’re always frustrated because there seems like there is so much else we could be doing.

Oh, and one other update: Katy’s eye doctor has decided that she doesn’t need surgery on her eyes to fix her strabismus. Her ability to focus together has improved enough that he wants to go back to trying to patch her right eye for an hour each day to help the left side gain some more strength. All I’ll say is “Easier said than done.” And we’ll leave it at that.

Final update: Congrats to big sister Maggie who was accepted into St. Joseph’s Academy as part of the Class of 2014!

In March of 2008, we discovered our daughter, Katy, suffered from the effects of a deletion on chromosome 6. After hours and hours of research on our own, we discovered that there was almost no information on our child’s condition. Almost no research. Almost no idea what we could expect for our daughter.

We created this site to try to help others like us compile as much information as possible. As our daughter continues to grow, so do our hopes.
And hopefully, so do hers.

To every disadvantage, there is a corresponding advantage. – W. Clement Stone