Sunday, December 27, 2009
Thursday, December 17, 2009
We just wrapped up with Dr Gunay and we are pleased to say that other than the very mild abnormalities on her liver ultrasound, Haley seems to be in great shape. Her kidneys look perfect on ultrasound, all of her lab work came back great, and for now there are no plans for us to return to the NIH for any further treatment or studies. A huge sigh of relief!!! Dr Gunay said that what they saw on the liver ultrasound was not significant enough to do anything extra for. She will have to have yearly ultrasounds and labwork, but she would have had to have that anyway for the minimum monitoring for JS. I am so glad we came here, it put our minds at ease because the kidney complications seen with JS can be very serious. Of course they cannot guarantee that she will never have kidney or liver problems, but with the data they have on Haley and based on their case studies they feel that her chances are minimal.
Right now we are waiting to go to the airport, our flight does not leave until later tonight, so we still have a long boring day ahead of us. In case you missed it, here is the link to the Santa story from last night. Haley is not on it....oh well!!
Wednesday, December 16, 2009
Another long exhausting day is over. It started off with a bang with Haley having blood drawn, which, as you would expect, was not a good way to start the day, but she did very well and seemed to forget all about the torture within a few minutes. But she didn't get much downtime after the labs. We went directly over to radiology to have a liver and kidney ultrasound. It took both Will and I to hold her down to get this done. It is not at all painful, but she has this thing about not wanting to show her belly. What can I say, she is modest, I like that!!!
See, I recover quickly!
Daddy and I checking out the Cookie Monster gingerbread house
That was all for the morning time, and we all came back to the Inn took a nap. After lunch she had an echocardiogram (an ultrasound of the heart). She did surprisingly well with this which was essentially the same procedure as the abdominal ultrasound, just a few inches about her belly though. I'm not sure what the difference was other than she wasn't poked with a needle 10 mintues prior to this ultrasound like she was for the earlier ultrasound. Then we met briefly with a nutritionist, and she was very pleased with Haley's diet. Didn't really have much to offer with advice on how to make her diet any better, which made me feel pretty good about the job we do feeding her nutritious food. Haley has always eaten just about anything we put in front of her, but lately it has become a struggle with typical toddler picky behavior so I've been worried about how well I actually am feeding her.
Then we met with Dr Heller, a gastrointestinal doctor who studies the liver complications associated with JS and the other ciliopathies called portal hypertension and congenital hepatic fibrosis. I won't bore you with the explanations of what those are....google it if you are interested. I really wasn't expecting much out of his visit, but it turned out to be a very informative visit and a wake up call to not be so nonchalant about possible liver complications in the future. He said that Haley's liver and spleen were slightly abnormal on ultrasound. He said that the texture of her liver was abnormal but could not tell if it was true scarring associated with congenital hepatic fibrosis. Her spleen was also slightly enlarged. He said that at this point to not worry too much about it because all of her lab work was fabulous, actually better than the average JS patient that they see. He suggested that she just be followed yearly with ultrasounds and lab work. At first hearing her ultrasound was abnormal scared the bejesus out of us, but by the end of our meeting he made us feel a lot better, all we can do is keep a close eye on her and if she does develop liver problems she will be in good hands. But even though we were told not to worry, we still feel like we are in limbo waiting for the other shoe to drop.
Once we got back from the hospital we had yet another fun surprise waiting for us. The Montgomery County Police Motorcycle Units came to visit the Inn. About 30 or so cops on motorcycles came roaring through the front gates of the NIH with their lights and sirens blaring.....and guess who else was riding a motorcycle.....well, Santa of course!!!! This time we were prepared with a camera for Santa's visits, but for the third time Haley rejected Santa. Fox News was there filming. Here is a link to the story they ran, Haley wasn't in it but it shows what they did for the Inn.
Do you have a license to drive that walker young lady?
Santa upgraded his sleigh
Third strike with Santa
Playing with Viola again
We will be leaving tomorrow, and will be so ready to get back home!! Although the Children's Inn and everyone at the NIH has been wonderful, there really is no place like home. Tomorrow Will and I have to have blood drawn and then we meet with Dr Gunay for the final reports and wrap up. I assume we will talk about any need to follow up here with them and what our next steps are.
Tuesday, December 15, 2009
Whewww....we are just getting settled in for the night, we had a pretty busy day today. We met with Dr Gunay and her nurse Joy this morning and they got a complete medical history on Haley and attempted to do an exam. Haley let Dr Gunay know right off the bat she was in no mood to be messed with today, so the doctor didn't push it. That is one of the good things about particiapting in a study, it is completely voluntary you can choose at any time to stop if you feel like you have had enough and the doctors and nurses don't keep pushing something that is obviously not working.
Our next stop was the opthamologist. Because retinal dystrophy is related to JS, they wanted a complete and thorough eye exam done. Haley's vision is normal for her age, there are no signs of retinal dystrophy and they agree that she has ocular motor apraxia. But the opthamologist did point out a new finding today with an abnormality with one of her eye muscles which may or may not be related to JS. Basically one of her eye muscles are lazy and she tilts her head to correct her vision. He said it was nothing to worry about and is actually pretty common, lots of people walk around with it and never know it. It can be corrected with surgery, which he did not recommend right now since it didn't seem to be causing her any problems.
Then Haley managed to catch a quick nap and when we got back to the hospital guess who was waiting on her......Santa Claus....AGAIN!!!! This time his helpers were three Washington Redskins Cheerleaders. Of course we left the camera in the room, but there wasn't much of a photo opp....she refused to even look at him again. And of course she got more gifts from Santa. They really are too good to us!!!
After that Haley had to have an EEG (electroencephalograph) to study her brain waves because JS is linked to seizure activity (which she does not have a history of). I just knew this was going to be difficult, but the tech, Jackie, knew exactly how to handle Haley.....this wasn't her first rodeo!!! She somehow managed to hook 23 leads to Haley's head. It took about 20 minutes to get set up, she had to measure and mark on her scalp, clean each individual lead location, then apply and tape each lead down then wrap her head in gauze to keep her from yanking them out. She played some corny kids video for her and let her play with some toys while she was getting her set up. Haley struggled with her a little bit, but in the end Haley knew Jackie would win this fight. We haven't gotten results from that yet.
That was our last appointment for the day so we decided to reward Haley with a visit with the resident therapy dog at the Inn named Viola. Viola lives here at the Inn and is a 6 year old yellow lab. Very sweet dog and I think it made Haley's day. As soon as she saw her she lit up. And when Viola left the room Haley stalked her all over the building. There also happened to be some reporters from USA Today there taking pictures and of course they couldn't resist taking pictures of Haley with Viola. I'm not sure what their article will be about but they said they would probably publish it sometime in January and would contact us to let us know when it was coming out.
Tomorrow looks to be another busy day. First she has to have some blood drawn, this is what I have been dreading. I hate having her blood drawn, its a huge ordeal. Then she will have an ultrasound of her liver and kidneys then an echocardiogram. Then after nap time we meet with a nutritionist and the GI doctors. I'm tired already!!! Better get in bed!!! Good nite.
Monday, December 14, 2009
Wow!!!! Two blogs in one night!!!! But we had a great night, and I had some downtime to tell you about it. Haley took a good long nap until about 5pm and we decided to go walk around and we stumbled upon a little Christmas party they were having for the kids. The Ritz Carlton put on a wonderful "Polar Express" event for the kids and families tonight. They served grilled cheese sandwiches and soup. Santa and his helpers were there greeting families, taking pictures, and passing out gift bags. Haley got a cuddly stuffed lion and some little toys in her bag and we got a picture album and leather luggage tag in ours. Too bad we left the room without our camera, we missed out of some great pictures. Haley did not want ANYTHING to do with Santa, but there was a big bear there that she was very interested in. It was a pretty nice thing they did for the Children's Inn. There were several people there from the Ritz Carlton there volunteering their time to work the event and talk with the families and kids. One guy said it was just their way to help these kids that are here going through hell have a chance to have some normalcy. You could tell they were really here out of the kindness in their hearts, not just to get in volunteer time.
After dinner we went to the toddler play room....WOWWWWW I wish we had a play room like this at home!!! She played for ever in there, and did not want to leave. I'm sure we will be spending lots of free time in there.
There is not much to do however once Haley's bedtime rolls around....hence the second blog in one day. Right now Will is downstairs in the gym while I stay up here with Haley. I hope I can get down there and run at some point this week, but I am temporarily sidelined by another pesky cold....thanks daycare germs!!!!!
See you again tomorrow!
Man, are we beat!!!! This week is the long anticipated NIH trip for the kidney/liver study. In case you don't remember....short recap....at the JSF conference back in July some doctors from the NIH were there who are studying what are called ciliopathies. JS is believed to be a cliopathy which may be the root of the kidney and liver failure that is sometimes related with JS. At the conference they invited people with JS to come to Bethesda, MD to participate in their research study. The whole trip is paid for by the NIH and we get free medical testing which will help us know for sure whether Haley will have kidney/liver problems in the future. We were kind of worried that because none of her current doctors had even heard of JS that they may be missing early warning signs of future problems so we felt like this trip would be worth while.
So we boarded a plane this morning bright and early at 7:30 am and off we go to the NIH. This is the first time ever flying with Haley. Now I hate flying to begin with, but add a toddler into the mix.....you can just say I was filled with DREAD!!!! Everything went surprisingly smoothly though, no problems getting through security with all our baby paraphernalia, no outbursts or temper tantrums during the flight, we really couldn't have asked for better behavior!! We are so proud of our big girl! But it was an emotionally taxing trip, schlepping our junk around and worrying how Haley would handle the plane ride.
Here are some pictures of Haley walking in the Baltimore Airport while we were waiting on the shuttle to the NIH
We are staying at the Children's Inn at the NIH. It is pretty nice, they really work hard to make it seem as much like home as possible. And let me tell you, the NIH is no joke. You have to go through an airport type security check to even get through the gate.....get off the bus, with all your crap, run it through the x-ray machine and walk through a metal detector type of stuff!!!
Tomorrow we meet with Dr Gunay and her nurse. I'm not sure what all is on the itinerary, but she will have a bunch of tests including an echocardiogram, a kidney and liver ultrasound, some blood work, and a 24 hour urine collection. They are pretty good to not push the kids too hard to do things that stress them out too badly, but I'm sure there will be some amount of protest on Haley's part.
And I also have a new first to report!!!! Haley has been able to pull herself to a standing position for a while now during therapy and if we help her, but she has never done it spontaneously and completely on her own. Saturday when I got her out of bed in the morning, she sat up put her hands on the rail and stood straight up. And needless to say we had never bothered to move her mattress down and had I not been standing right there she could have toppled right out. Of course, we moved that mattress all the way down before she went down for her next nap!!!
Let me OUT!!!!
Oh! So this is how you do it!!!
Well, we will try to keep you updated on what is going on while we are here. Take Care!
Wednesday, December 9, 2009
Haley got her new walker in last week. She is doing really well with it. Here are a couple of pictures of her taking her new wheels for a spin. Her favorite thing to do is walk up and down our driveway, and anyone who has ever been to our house knows what a tough hike that is. Our driveway is about 200 yards or so long with a step hill going up towards the road. She can make it the entire way up without any help.
We are getting ready for Christmas. So far we have only managed to get our shopping done for Haley, that was a huge task by itself. I can only imagine each Christmas will become harder and harder to keep from going overboard. Shopping for kids is so much fun!!!
We are also gearing up for a trip to Maryland to the National Institute of Health. Haley is going to be in a research study for people with Joubert Syndrome and other disorders that affect the liver and kidneys. She isn't having any symptoms of kidney or liver problems, but she is at risk and this study will be able to tell us if she is in danger of developing them in the future. I really REALLY dread the flight. We have never flown with Haley and have no idea how she will react. I hate flying as it is but throw a toddler and tons of baggage in the mix and all I can picture is disaster!!! Pray for us!!!! We will keep you all updated on what is going on while we are up there.
Saturday, December 5, 2009
So, I am a little nervous about making this post, worried that I will not be successful, that it will fail, and what people will think, but here goes nothing (no I'm not trying to get pregnant yet! LOL) I've created a new blog to kick off my new fundraising endeavor. I have been running again for several months and have decided to turn my new found hobby into a fundraising effort. I won't talk much about it here, as not to take away from Haley's blog and to constantly post about it here may annoy people who could care less about running. So, go check it out, this will all make more sense once you read it......and let me know what you think.