Monday, July 27, 2009

New Fundrasing Opportunities for JSF

I have a couple new things to raise money for the Joubert Syndrome Foundation. First, I want to let you know about a fabulous friend I made when I first got pregnant with Haley. We met on an online mommy group (as corny as that sounds) and we have remained friends from the very beginning. Anyway, she is starting a children's clothing and accessories line, Little Chicken Designs. She donated that super cute little dress I gave to the silent auction at the conference.


Everything is custom made and 10% of all sales go straight to the JSF. She will be opening an Etsy store also when she gets a little more established, but you can put in orders via Facebook until then..... so stay tuned for that one.

And while you are on Facebook, if I haven't done so already, I now invite you to join the cause for the JSF. This is different than the JSF Facebook page. This one is to help recruit members to the cause and raise money. Once you are a member of the cause, pass it on to as many people as you can, even if we are just raising awareness and not getting donations.....that is important too!!!

And finally, every year the JSF as a whole does a "traditional" know like school aged kids do. This year we are selling Sally Foster. For those of you who haven't seen this stuff before its really nice wrapping paper and gift-y type things. I have a catalog with me for those of you who are local and want to order that way. But you can also order online just make sure to put in the code 0507095 for the "school group account number" I think they said up to 50% of those sells go back to the JSF. I know for sure those that order the traditional way via catalog will not get their orders back until mid November. The fundraiser goes from now until October 1st and all orders are placed and once and delivered back to me to distribute. I'm not sure about ordering online, if your order is processed immediately or with the other, I will check on that one.

Anyway, as you can see, I have really gotten into fundraising for the JSF. We are a relatively tiny group compared to other "causes" out there. We just don't bring in the same amount of money as these other diseases and disorders do because its so rare and unknown. But the research going on is equally as important as the research going on for the other causes, so I guess we just have to fight harder to raise the funds. Sorry if I sound like a broken record, but this has become my mission. I will be putting the "how you can help" button back up on the page so that this information is easier to find in the future. Thank you all for your support!!!!!

Thursday, July 23, 2009

so....about the conference

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 and . 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!!!

Saturday, July 18, 2009


We just got in about 2 hours ago from the conference. We are exhausted, overwhelmed, empowered, hopeful, and most of all thankful for our precious baby girl just the way she is. Just wanted to let you all know we made it back, I will try to post pictures and more on the conference in the next couple to bed.

Thursday, July 16, 2009

A Place to Belong

The JSF&RCD Conference is finally happening!!! We arrived yesterday afternoon and it has been non-stop ever since. We are learning so much and meeting such wonderful people. It is so comforting to finally be surrounded by people who truly understand what you are experiencing and feeling. Not that the support we receive at home isn't much needed and appreciated, but this is a whole new experience.

There have been several workshops and meetings so far. Last night presenters talked about new breakthrough research in JS. Today we heard from genetic counselors about testing and prenatal diagnosis, and also from a geneticist involved in research with the kidney/liver complications that can occur. A financial advisor also spoke (I made Will listen to that one, I can keep up with the medical jargon but money talk confuses me hehe!) We have so much in that area to learn and consider also! Having a special needs child complicates much more than medical care, your financial world is also turned upside down!

We are scheduled for several individual and private consultations with different specialists. So far we have met with the researchers from the University of Washington, Drs Glass and Doherty. They are so wonderful and knowledgeable. It is so nice to talk with medical professionals that have a true understanding of what is going on with our child. Tomorrow we talk with some neurologists from Switzerland and a behavioral specialist, then Saturday the kidney/liver specialist.

There are so many wonderful families here. It is hard to describe what it feels like to look around and see the other children affected by JS and how they are affected. There are families here from all over the world, Mumbai, the Netherlands, Australia.....and we thought we traveled a long way! LOL! I'm sure we are in the midst of making some lifelong friends and will have invaluable contacts from now on.

I can't thank the people who helped make this trip possible enough. This is the most wonderful gift Will and I have ever given ourselves and Haley. I just want to say thank you again!!!

I hope to get some pictures tonight and tomorrow. I have been so overwhelmed by just being here, I haven't even gotten the camera out yet.

Saturday, July 11, 2009

Greetings from DC

We are in DC this weekend visiting some friends. They have a little boy that just turned one. We've just been hanging out and the kids have been playing. Haley is enjoying all of G's toys and and they went for a wagon ride last night with G and his cousin. We went and played at the park a couple times next to the Potomac River, and this afternoon after nap time we plan to go for a boat ride......that will be interesting, its Haley's first boat ride. Will thinks it will scare her, but we'll see.