There are times, I’m sure, over the past few years where I’ve been busier in my life; but I’m having a hard time thinking of when. My apologies for not updating this with all the info from Mayo. I’ve been working on the post and on the video and it should be ready this weekend (I hope!).

One big update: Katy’s pathology results came back from her surgery on Monday and the mole she had removed was benign. Hooray! Besides a very unhappy day on Tuesday, Katy has had absolutely zero effects from the procedure. Let’s hope that continues.

This past Friday, we were at Shriner’s for a previously scheduled appointment concerning her legs. Imagine my surprise when they told me they didn’t think Botox would do any good at all for her right ankle. They recommend we do a surgical procedure to lengthen the heel cord as well as the tendon that comes down the instep to help prevent her from pulling her foot up and in. So now, we have a third opinion (or is this fourth) scheduled with the chief orthopedist at Cardinal Glennon next Friday. Where we go from here, I really don’t know.

On to happy memories. I know I need to get the Mayo information up, but this was too special not to share as soon as I could. As many of you know, Katy has participated in a program called SPENSA (SPEcial Needs Soccer Association) this fall. This past Saturday was the final weekend of the fall session. To say this was a special day would be a horrible understatement. We were overjoyed to see Alex again – who is from Rockwood Summit High School, not SLU as I reported from a month or so ago. And to make things even better, Whitney and Jenny from Lindenwood University were able to make it back again.

This is one story that’s probably better viewed than told. So take a look below:

Yes, Katy’s little journey has been all over the map since we got back from Mayo. And we have a lot to share with you once I get the opportunity to sit down and edit a bunch of video and proof some rough drafts of some articles. All I’ll say for now is “Check back with us by Wednesday. You won’t be disappointed.”

For now, though, we have more important things to consider. Katy is expected at Cardinal Glennon at 5:45 am on Monday morning, November 1, for surgery to remove a possibly cancerous mole on her scalp. Yes, she will need to be put under general anesthetic for the procedure. I’ll update this site as soon as I have information to give you.

Thanks for checking in with us – and don’t forget, you definitely want to check back in with us this week. I’ve got a lot of great video – and some great stories to tell.

todd

———–

UPDATE 11/1/10 2:20 PM: Katy is back home, doing remarkably well. We don’t know if that’s the morphine they gave her still not wearing off or something else; but so much for a sleepy baby coming home and resting. She almost conked out twice within the first 20 minutes of being home. Since then, she’s been her usual self taking over the house. She’s already been hungry enough to eat a (probably too) big lunch and is showing no signs of slowing down. Videos will hopefully be added tonight.

todd

Today was neurology day at Mayo, evidently. We met with two different neurologists, one from the adult side of things and one from pediatrics. What did we find? What did we do? Not much new, and nothing much changed.

It’s been a recurring theme from our trip up here – with the exception of our meeting with Dr. Skinner, the physiatrist, yesterday – we’ve already taken many of the recommended steps that we’re having presented to us. Shel and I actually discussed this at length yesterday: was this trip worth it? So much of what we’ve been told up here matches what we’ve found from our doctors at home. You know what our conclusion was? A resounding YES, it was worth it. Want to know why? Because for the first time, we have a team of doctors, all connected at the Mayo clinic, all reporting their findings to our geneticist there. Everyone now has the same information relating Katy’s chromosome 6 deletion. Everyone is seeing the big picture. That is worth every penny we spent to come up here.

The only real change noticed by the neurologists was an indication of some possibly new spikes on the EEG in the back of the brain as well as the recurring ones from the front right lobe. However, we’ve made the decision not to medicate Katy for these. The only purpose medication would have at this time would be to reduce the chances of another seizure hitting her. There’s no doubt that we may end up regretting this. If Katy ends up with a grand maul that sets her back years, yeah, we’re going to sit here and wonder why we didn’t do this when we had the chance. But I just can’t sit here and pour more medications into my little girl on the chance that something might happen. I’d rather take the chance that she’s going to continue to make progress and continue to develop at her own pace and that hopefully, this decision doesn’t come back to haunt us.

Our final meeting with Dr. Ellison didn’t really clear anything up for us. Like we said after our first day here, the answers we’re looking for simply don’t exist. There are far too few cases revolving around Katy’s chromosome deletion to have any idea what is truly being affected. To our chromosome 6 deletion families out there, especially on 6q, what I can tell you is this: geneticists are separating 6q deletions into three main groups – del(6)(q11q16), del(6)(q15q25) and del(6)(q25qter). What are they looking for to do more research? They’re not looking for cases with the same deletion. What they’re looking for are overlapping cases, multiple children with deletions that cross over each other. It’s only with this information that they can truly begin to figure out which part of the deletion is affecting what genes.

If you’d like to help me start getting information together, I have an excel file located here. Please download the file, input as much information about your child’s -or your own – genetic condition as you feel comfortable doing and then e-mail it to me at todd (at) hope4katy.com. You can find that file by clicking here.

If I’ve learned anything over the past two and a half years dealing with this diagnosis, it’s this: Be an advocate for your child. The doctors, the technicians, the clinicians, they’ll all help as much as they feel they can; but you can’t expect them to work miracles. The only people with the ability to pull all of the loose strings together and make something whole out of it is yourself. I get frustrated all the time because I feel so inadequate to deal with everything that’s happening around Katy. In the end, though, what I came to realize this week was none of the doctors we met this week could truly understand the issues facing Katy outside of their specialty. They’re in the same boat with me. And the only ones who can keep trying to bring everything together for these doctors – and for my little girl – are the two of us up here with Katy.

If you want something done for your child, you have to force it to happen.

Our scheduled day off turned out to be probably the most important day of our trip. I can’t begin to tell you how impressed Shel and I both were with Dr. Skinner, the physiatrist we met with today.

Katy received by far the most exhaustive physical exam she has ever received. (She wasn’t too happy about parts of it; but for the most part she was happy with it.) Many of Dr. Skinner’s findings weren’t exactly earth-shattering to us. For instance, we’ve known for a long time that Katy has a hypotonia (low tone in her muscles) and that Katy has extremely flexible joints. She also found far more flexibility in Katy’s joints than she had expected to, something that, in places, I was even surprised to see. Something she did say made me extremely proud of my little girl, though. While working on Katy’s ankles, which are so lose it’s even shocking me, Dr. Skinner said, “You have to have some amazing strength in your muscles to overcome stability issues like these. I’m amazed to see she’s doing some of the things she’s doing.”

Where things began to change for us, though, was when the doctor commented that Katy didn’t seem to have any significant connective tissue in her ankles. Hearing this, Shel opened up our massive file of medical records and pulled out a new chromosome 6 study we received on our first day at Mayo and showed it to the doctor. The title: Developmental Delay and Connective Tissue Disorder in Four Patients Sharing a Common Microdeletion at 6q13-14. We’ve mentioned before that collagen may play a part in many of Katy’s physical issues. Now, for the first time, we have a doctor on the physical side of things studying these reports for us, as well. Will it make any difference? Don’t know.

The final problem we encountered and discussed is an old one – the dreaded right ankle – the one I’ve posted about before and done exercises with Katy for months on. Well, it appears I may keep working on this for years and not make any difference. Why, you ask? Evidently, Katy is spastic (high tone) in one part of her body – her right ankle. Her calf muscle there has completely contracted. Where before we couldn’t get Katy’s foot to move out of the twisted manner she holds it, now we can’t get Katy’s foot to flex back towards her shin. She literally can not hold her foot flat. The ball of her foot is close to an inch lower than the heel of her foot. Imagine how difficult it is for us to get her in her braces like that.

This is when the dreaded B word reared it’s head: Botox. Dr. Skinner told us she would like to inject a small amount of the stuff into her calf muscle as well as some of the muscles in her foot to allow us a three-month (or so) window to stretch the hell out of the muscles and hopefully get them to work correctly. Her hope is not to have to use the Botox again, that we would be able to get her muscles back to their correct positions and be done with the botulism. She explained the risks involved. Kids have died undergoing Botox injections. She explained the issues surrounding those deaths. It scares the crap out of me. But, and it’s a big but, I’ve now had three medical professionals who I truly respect recommend Botox for my little girl’s leg. It’s really hard for me to ignore this anymore. And the biggest thing of all is this: Katy will not put weight on that leg. Where we’re at right now is not a good place for my little girl. We’re going to have do something.

We ended up the day in pediatric radiology for a whole series of x-rays on her hips and ankles. Dr. Skinner doesn’t necessarily believe that her joints are functioning correctly – especially with the connective tissue deficit. This is not the first time Katy has received x-rays, but it is the first time that one doctor with a specific goal related to her joint mobility will be reviewing them. We’re hoping to hear from her next week about any findings.

So, do we do the Botox? We’ve got a little time to think and to look at options. We’ll let everybody know.

Exhausted. That pretty much sums up today for Katy and for us.

Two straight nights of sleep deprivation – last night purposefully done, the night before caused by a fit of coughing – have left all three of us wiped out. But not before the power of the Mayo Clinic started to show through today.

Let’s just say today was a good day. A long day. But a good day.

We started again before 5 am, getting Katy up LONG before she wanted to this time. We woke her up the same way we did the last time we were going to do an EEG – early morning bath time! By the time we reached the neurology department at 7:30, Katy unfortunately was starting to show signs of waking up a little more than we had hoped. She was obviously still tired, but would she be tired enough?

Thankfully, the process that Mayo uses for EEGs is a little less messy than what we’ve gone through in St. Louis. The reason? Instead of attaching I don’t know how many electrodes to her head with this sticky gunk they put on her scalp, here, they just put on a small green cap with all the electrodes already attached to it. Yes, they had to put some sticky stuff through the holes of the electrodes for conductivity, but still, it wasn’t even a tenth of the mess I dealt with the last two times we went through this. Getting her to sleep was another story, however. The reason? Katy was too interested in what the technicians were doing over at their computer. I called her “inquisitive.” Michele says she’s “nosy.” Either way, it amounted to a lot of time spent sitting in a chair with a supposed-to-be-sleeping little girl.

So, we skipped ahead to the “awake” portion of the EEG which consists of measuring her brain waves while she reads a book and looks at a couple of pictures. Then on to the piece de resistance – the strobe light! Thankfully, Katy thought it was funny, and more importantly, it did not send her into any sort of seizure (at least not visibly). With that done, we suggested that they turn the lights all the way down, turn off the music and get Katy faced away from them. Voila! She was out in less than 10 minutes. No sedation needed!

Next, on to urology, where the doctors agreed with every step we’ve taken so far. (Score one for Dr. Palagiri at Cardinal Glennon in St. Louis!)

Then, up to visit with an occupational therapist in the pediatrics section of the Clinic. Here is where things really got interesting for us.

A couple of notes: first of all, by this time it’s 1 pm. Katy is going on about 7 hours of sleep. She’s been poked and prodded for the whole day already and now we’re expecting her to work with an occupational therapist. We weren’t expecting much. We were just hoping to have her see as many people as possible while we were there. And for the first 20 minutes or so, she did a pretty darn good job of living up to our expectations on this one. And then, suddenly, things began to change. First, the therapist – Joan – with the aid of a little plastic add-on to a pencil, got Katy to use a regular grip while drawing. Never seen that before. Next, while discussing the topic of brushing teeth, the therapist – Joan – asked if we had ever used any sort of toys or tools that vibrate with Katy. Not really. Well, evidently, the sensation can help with children who have hypersensitivity in and around their mouths. Two toys later and Katy is brushing her teeth and her tongue with a small electric toothbrush. Holy Cr@p! Shel and I are slightly stunned at this point.

It gets better. We move on to physical therapy with Terry. Katy was decidedly uncooperative by this point, but Terry was wonderful at taking the time to ask Shel and I about are concerns. The age-old issue of Katy’s right ankle came to the forefront again. Here’s where things became even more interesting. To start with, it looks like my “exercises” with Katy’s foot may not have been completely successful. While her ankle does not lock itself into the same twisted position like it did before, I had noticed a problem, myself over the past couple of months. While pushing on the sole of her foot with almost all my strength, I could barely get her foot to move towards her shin. Terry noticed the same thing. She asks if we’re seeing a physiatrist while we’re at Mayo. What the hell is a physiatrist, I want to ask. (And no, we’re not scheduled to see one.) A physiatrist – also known as a rehabilitation physician – is a medical physician who are experts at restoring maximum function lost through injury, illness, or – get this – disabling conditions (among other things). I’m beginning to wonder why I’ve never heard of this before. After working with Katy some more, Terry goes to see if there’s any chance we might be able to get on the schedule for tomorrow. Nope. No chance. Everyone is booked. We’re disappointed but completely understand. So, Terry goes to get a bunch of information for us and some contacts for us to make when we get back to St. Louis. I go to sign the release forms for her to talk about Katy’s condition with our hospitals in St. Louis and suddenly we’re talking with the physiatrist on duty tomorrow. Just like that, we’re on the docket for 11 am tomorrow. Holy Cr@p! This is why people talk about Mayo Clinic in almost reverential tones.

So, our day off tomorrow is no longer a day off… and I could care less. Shel and I are extremely grateful – and excited – to go back to the 16th floor to the Department of Physical Medicine and Rehabilitation. (Katy may disagree with this last sentence.)

Hopefully more news tomorrow. I’m wiped out.

todd

As I glance back into the “sound asleep” portion of our hotel room at my sleeping little girl and wife, I’m struck by just how long of a day this has been.

Like I said in an earlier post, Katy’s allergies were bugging her the whole way up here and have continued through today. This morning, at 4 am, Katy went into a coughing fit that woke all of us up and that was pretty much it for sleep. We had to be up around 5 am anyway to be at our check-in time of 6:35 am. Katy sure as heck didn’t want to go back to sleep, so a 4 am wake-up call it was.

Our first appointment was with the genetic department. Our first news of this trip is a new karyotype for Katy. Her deletion is actually bigger than we thought and runs from 6q12-to-q14.2. (We had been told previously it was 6q13-14.1.) Not exactly the most encouraging news to start with, but, hey, that’s what we came here for. I’ll post much more on our experience here after I’ve had a chance to soak all of this in, but our first full day of appointments have made it very clear that we will not find some magic pill that will give us all the answers we’re seeking. We’ve had to come to grips today with the simple fact that those answers don’t exist. That’s a difficult thing for Shel and I to accept, but it’s not something we can dwell on. No matter what doctors tell us, in the end, it’s still up to us to raise Katy and help her to develop into whatever type of woman she will become.

What made today significant for me was something I’ve written about before in this blog: I don’t expect any of our doctors to have answers for Katy’s problems – her issues are just too rare. What I’m looking for are doctors who are truly interested in my daughter. I’m looking for doctors who see more than just the symptoms in front of us that relate to his/her specialty. Simply put, I’m looking for doctors who give a damn about the patient – not just the problems. Today was a good day as far as that went. Every doctor we spoke to was genuinely interested in Katy and wanted to help as much as they could. (I can’t say the same about the lady who ended up having to do Katy’s electrocardiogram after she had stated to the front desk personnel: “I’m not doing a test on a kid” without realizing that said “kid’s” Mom was right there even if “kid” was out in the hallway with Daddy.)

Like I said, today has been a long day, made even longer because Katy has an EEG tomorrow morning at 7:30 am. For some reason, they scheduled a test that Katy needs to be sleeping for at 7:30 am. So, despite the fact that she woke up at 4 am, we’ve now kept her up past 9 pm down in the swimming pool with the hope that she may actually be tired enough to go back to sleep at 7:30 after we wake her up at 5 am tomorrow, as well. If not, they have to giver her a “mild” sedative to perform the test. I have serious reservations about how much “fun” tomorrow will be if Katy is sedated at the very beginning of another full day of tests and appointments.

Thanks for checking in with us. I know many of you were hoping along with us that we might find some answers up here. Turns out, we may just have to find some different questions.

todd

If Katy is in the right mood, she has this innate ability to bring smiles to the faces of everyone she meets. And she does it in the simplest way possible… she says “hi!” Today, after we walked throughout the “Subways” and over the “Skywalks,” we let her climb out of her wheelchair and play with her favorite type of jungle gym – you got it, a flight of stairs. Katy proceeded to welcome nearly everyone who walked anywhere near this set of stairs. And if she wasn’t saying “hi” or “bye” she was letting them know if they were going ‘Up, up, up!” or “Down, down, down!” (In case they didn’t realize this.) And even though this is generally a very friendly hospital, there are definitely people that needed a smile.

My little girl gave them one. Take a look at the video below:

Who knows where this trait comes from? I’m about as shy as they come. It’s a wonderful thing to watch, though.

Makes me wonder if she’s trying to teach me a thing or two sometimes. “Look, Dad. Just say “Hi!”

I guess it really may be that easy.

We’ve arrived in Rochester, MN, to 41 degree weather and a very stuffed-up little girl.

Tomorrow, Tuesday, is our first full day of appointments. We’ve settled into our hotel for the week and Katy and Mommy are laying down on the bed  – Mommy trying to take a nap while continually turning down Yo Gabba Gabba on Katy’s iPad – and Katy, laying beside her continually turning Yo Gabba Gabba back up to full volume.

We’ve taken our first tour of downtown and the Mayo complex and it is an impressive site. You can tell Rochester understands what’s important in their city – the Mayo Clinic. Nearly every building in downtown is connected either through a vast system of underground “Subway” walkways or the above-ground Skywalks. The hospital complex itself is probably the most beautiful medical center I’ve ever seen, complete with granite/marble/stone work everywhere, including in the cafeteria, and to add to the ambience, we passed a lady playing a grand piano in an atrium. I have to find out if those are truly a whole series of Chihuly glass sculptures in the entranceway directly from our  hotel. (Just looked it up and yes, it is a Chihuly. I don’t want to even know what that thing is worth.)

Katy’s allergies have flared up big-time over the last two days and we have a lot of snot running down her little nose and a lot of coughs from the stuff running down her throat. She seems perfectly happy to lay around the hotel room right now (as does Mommy). Although, knowing my wife, that isn’t going to last for long.

Now that we’re here the question of “Just what are we hoping to find out?” has reared it’s head. I’m not really sure. We expect to get the results of Katy’s second chromosomal micro array tomorrow to see if they were better able to determine her exact deletion. After that, who knows? Will that information get us any further than we already are? Will they have anything more they can tell us? We really don’t know. Now that we’re here, I feel really unprepared for this. Just please give us something that will help my little girl.

We’ll update everyone as soon as we can. Hope for the best.

todd

Last Saturday, Shel, Katy and I headed out to Lindenwood U to watch Jenni and Whitney and the rest of the Lions play in a women’s soccer game. For those of you who haven’t watched the last couple of films I’ve posted, Jenni and Whitney worked with Katy during her first two weeks playing in the SPecial NEeds Soccer Association (SPENSA). They had shown up for the second week of practice even though their team wasn’t even expected to be there. And Katy just had a blast with them.

So, off to the game we went. It was such a great experience for us. We got there just as the game was starting and made our way up in the stands behind the Lindenwood bench. We didn’t get a chance to talk to Whitney or Jenni before the game since they were both on the field already, but a few young ladies recognized Katy from the first SPENSA session. At half time both Whitney and Jenni were waving at Katy from the sidelines. The highlight of the day, though, happened just before the second half started. Imagine how touched I felt when I hear over the public address system at the game: “Lindenwood University would like to welcome KATY to today’s game!” They have no idea how special that was for me. (Katy wasn’t as happy with it as I was. She wasn’t a big fan of anything coming out of the PA system at all, actually.) That wasn’t anything they had to do. Then again, when Katy’s involved, a lot of people in our lives have done a lot of things they didn’t have to do. She’s a special little girl. When the game ended and we got to go down and talk to Whitney and Jenni, Katy kept saying “Whoo!” like she did with them during the last practice. She knew exactly who they were and was so excited to see them. It was just a great experience all the way around.

This Saturday, we knew Whitney and Jenni had a game that night, so we didn’t think we would see them at SPENSA. So, Katy had to train three young ladies from the Saint Louis University women’s soccer program. Kaitlyn, Jade and Alex did a great job with her the whole time. The funniest thing for me though, is it was a complete repeat of our first day. I barely even got to the registration table when Katy already has three people around her ready to work with her. (It helps to be cute, I guess!) As Whitney and Jenni can attest to, SPENSA practice with Katy is no fun little stay in one place and kick a ball around. No, soccer practice with Katy is a conditioning affair with repeated sprints up and down the field. But they did it. Kaitlyn, Jade and Alex learned a couple new words in sign language – with “again” being the most prominent in the affair. Watch the video below to see what I mean.

SPENSA has been great for us, especially as the stress starts to build for next week. What’s next week, you ask? Next week is our long awaited (over a year) trip to the Mayo Clinic in Rochester, MN. Five straight days of doctor appointments with one goal: try to get a better understanding of how Katy’s chromosome deletion is affecting her and if there’s anything we can do about it. We sent up the blood test two months ago for them to do another genetic map on her to see if they could pinpoint her deletion more accurately than before. Now, we just have to wait an agonizing week to get up there and see what can be done.

So, before I leave you with this week’s video, I just want to say I am so thankful that we have never let Katy’s condition slow us down. Whether it’s a little boy – Luke – at Sean’s soccer games who hunted down a sucker for Katy when he didn’t have any candy she could eat his first time around, or it’s PA announcement at a college soccer game; we’ve found ourselves in the company of some of the most wonderful people we could have ever hoped to have met. All because of Katy.

Last Monday, I attended a training session with the Parkway Special School District on using the iPad and the augmentative communication application Proloquo2go. Katy’s speech therapist and her student aid attended, as well. Together, we formulated a plan to start introducing Katy’s iPad into her school day.

Now, anyone who has ever seen Katy with her beloved iPad can understand why I’m both immensely excited by this prospect and also a little apprehensive – well make that nervous – for her teachers. You see, Katy knows how to use her iPad and she does what she wants to do when she’s got it. So, after I go in and program all the restrictions in during the day so she can’t use her videos and her music and the like, I have to wonder how she’s going to react. She may just throw the thing down for all I know.

I’ve spent the past couple of days trying to customize her main screen to give her immediate access to the things she needs to communicate with her teachers throughout the day. And I’ve spent the past couple of days trying to get anything else that just might confuse her right now off the screen. Now, it’s up to her.

Now, I’m sure there are some Apple haters out there that will argue against the iPad and against Apples in general. Do it all you want. I just don’t care. The fact is this is a piece of technology with unbelievable potential for my little girl. But more than that, it’s thousands of dollars cheaper than most full-fledged communication devices. And even more than that, and maybe most importantly, it’s cool. How may times have special needs kids been able to say that about one of their pieces of equipment? I don’t know if Apple knows what they’ve stumbled upon here with both the iPod Touch and the iPad. These products, combined with the skill and creativity of the programmers stocking the App Store, have opened doors for special needs kids in ways that none of us could have imagined just a little bit ago.

And meetings like the one I attended at Parkway last week are a perfect example of that.