Sorry it took me a while to get around to posting about the conference. I have been super busy working this week trying to make up for lost work last week.
I don't even know where to start. I have to admit I was a little nervous going to the conference. As most of you know, I'm not a huge social butterfly like my husband is. I'm not great at meeting new people and was worried about having the right things to say to the other parents. Would it be hard to ask about their children, how they are affected, how and when the were diagnosed? But as soon as we walked in for dinner that night I immediately felt at home and all those worries went away.....every parent there had the same questions we had, no need for awkwardness!!! What a relief!!! No weird stares, no blank looks when talked about JS, no feeble attempts to console you and tell you she would be ok.
I won't go into details, but we quickly saw that Haley is very lucky, she could have much more severe effects from JS. But every single child there, whether severe or mild is so precious and so special and it is amazing to see the love pouring from their parents and willingness to do EVERYTHING possible for their child. We met a lot of wonderful families, and a few that are fairly close to us in TN.
The doctors and specialist there were amazing. Although the were all compensated to be there, it was still so nice of them to take time out of their busy schedules and be available to all of the parents. We had several private consultations which were very informative....for the most part. We met with the neurologist, who are considered the best in the business for JS. Drs Paretti and Bolthouser from Switzerland. They were very knowledgeable and very nice, but VERY scientific and not really into looking the hope and miracles involved in the prognosis of JS. Which I can't hold that against them, they are scientific minded after all, and there may have been a language barrier involved also. Dr Doherty was gracious enough to spend extra time with us and looked at Haley's MRI. He went through slice by slice and explained everything to us. No one had ever explained it so thoroughly to us. He said that her MRI is very classic for JS, which was not news to us, but was nice to hear a definitive diagnosis from someone who is an "expert".
Lots of research going on in JS. I won't bore you with the medical jargon involved but if you are interested in learning more visit http://depts.washington.edu/joubert/index.html and http://clinicalstudies.info.nih.gov/cgi/wais/bold032001.pl?A_03-HG-0264.html@joubert@syndrome . Haley had a skin biopsy done, which sounds way worse than it was. Holding her down for the procedure was way more traumatic for her than the actual collection itself. We were going to have blood drawn also, but didn't want to put her through two bad experiences in one day. We are also going to enroll her in a research project at the NIH (National Institute of Health) which is studying the kidneys and liver complications associated with JS. Only about 20% of kids with JS will develop kidney or liver problems, and so far Haley is not exhibiting any, but since there is a link, they want to study all kids with JS with or without problems. That will probably be done sometime this fall or winter. They will fly us up to MD for a few days and do a lot of different testing.
Of course I got some pictures, not as many as I would have liked to, I was so overwhelmed I forgot my camera until the last day or two.
Haley walking around in her Walking Wings, she loves to walk now.
This is a dress a friend of mine at "Little Chicken Designs" made and donated for the silent auction. Thank you Lani!!!! (Go check her out on Facebook, she is making some fabulous stuff for boys and girls!!!!)
This was the last night at the closing gala. We weren't able to stay, but I wanted you all to get an idea of how many kids were there.
And this is our little ham demonstrating an alternative type of therapy known as the Feldenkrais Method. No one in our immediate area offers this, we would have to go to Charlotte and insurance doesn't pay for it. But it is a very interesting therapy, we may consider it in the future.
As usual, more pictures are posted on Picasa. And I can't say it enough, thank you to everyone who helped us make this trip possible!!!! I also have to give a big thank you to the many volunteers and board members of the JSF who made the conference possible. They put so much hard work into making this a wonderful experience. I hope to be able to help out in some way at the next conference.
I will also me posting soon about a fundraiser coming up for the JSF. We had no idea the costs it takes to run a foundation until the conference. Without the generous donations from individuals the foundation would not be possible and without the foundation there would be no conference, less research, and no communication between families, etc. Be on the look out for fundraising updates, I'm beginning to feel like she is in school already with all the fundraising I'm doing.....bear with me, its all for a good cause!!!
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