Jog for Joubert Syndrome

Inaugural J4JS Race planned for February 2013!

2012-02-07T15:04:00.001-05:00

Exciting news for J4JS! We are planning our first race event, Race for R.A.R.E, scheduled for late February 2013 to coincide with World Rare Disease Day. The race will take place in the Charlotte, NC area at George Poston Park and will be a 5k/10K trail race. So, if you are in the area, or visiting NC and would like to participate in this race stay tuned for more information. Online registration will be available shortly, but if you would like to be an early bird, you can send in a paper registration now! Also, if you would like to sponsor this event please check out our sponsorship brochure for more information. Any monetary or product donations are accepted to help support the race. Stay tuned for more information!

J4JS Re-launch! Its not just for runners!

2011-09-28T13:07:00.001-04:00

The history behind J4JS

Jog for Joubert Syndrome (J4JS) was created December 2009, out of the desire to turn a passion for running into a public forum to raise money and awareness for JS. J4JS is modeled after other running fund raising campaigns, where participants choose an event local to them and raise money while they train for that event. Participating in races can be successful fundraisers because you are making a HUGE physical sacrifice. Donors are often excited to cheer you on with a donation.

In 2010, J4JS raised nearly $6000 with just 2 small teams! With little to no upfront cost to the Foundation or participants, the funds raised were pure profit. 100% of the proceeds go directly to the JSRDF.

We chose this type of fund raising campaign because there are races all over the country, every weekend of the year, literally endless opportunities to race in the name of JS! J4JS has created team t-shirts participants can purchase and wear while training and racing. As a participant, we are very visible, helping raise awareness for JS. I can’t tell you how many people I have been able to educate about JS just because of wearing a simple shirt to a race! Our goals are met two fold…raising money and awareness simultaneously!

You don’t have to be a runner to participate!

So how can you get involved with J4JS? It’s extremely simple! Pick a race…any race! You can walk, jog, swim, cycle. You can do a local 5k, a destination marathon, a triathlon, anything….its YOUR choice! You can participate as an individual or form a team. You can also raise money in honor of someone else you know who is running a race and be their cheerleader!

We suggest picking a race approx 3-6 months in advance (depending on the distance and how much training you will need of course!) to give people the time and opportunity to donate during your training. To ask for donations, you can email or mail out the sample letter (found in the fundraising ideas tab), and collect cash or checks. Join the J4JS Cause page on Facebook (www.causes.com/jogforjoubertsyndrome) and post a request on your Facebook pages. Donors can very easily make donations directly through Facebook.

Ask early, ask often, and ask everyone! We are currently working on a J4JS fundraising packet to help you track and collect money. Email us if you would like a fundraising packet and we will send one to you once they are available. Visit the FAQ page for common questions about J4JS.

The future of J4JS

Our hope for the future of J4JS is finding ways to bring in more 3^rd party donors, people who have never donated to JSRDF. J4JS is working to help families plan and host “walk/jog-a-thons”. We are discussing the possibility of having a JS walk at our next conference. Eventually, J4JS hopes to be able to support and host our own races! But with new ideas and growth, comes the need for volunteer support and ideas. If you are interested in joining the J4JS planning committee or have ideas, please let us know at jogforjoubertsyndrome@yahoo.com.

As always, thank you for your interest and support in J4JS. Together, we can turn what was once a simple idea into a huge success for Joubert Syndrome!

Order Your J4JS Shirts!!!!

2011-09-20T14:16:00.000-04:00

If you are a runner or know someone who is, order a Jog 4 Joubert Syndrome T-shirt. Fall and Winter are soon approaching. Its time to buy your cold weather running gear! Show your support for the JSRDF and J4JS by getting a team shirt. Wear it during training, your next event or out on the town. These shirts are a "tech"material but feel like cotton. Which means they are perfect for running and will keep you comfortable and dry but have the soft feel of cotton! The price includes shipping, $19 for short sleeve, $21 for long sleeve (which is a GREAT price for a tech t!). You can choose any style from the "smarter basics" or "smarter heathers" collection (see below for suggested colors, our logo will not print on all colors) Please email us at jogforjoubertsyndrome@yahoo.com to place your order. We need at least 12 shirt orders before placing the next order.

Available colors:
Mens (SSO1): White, green, light blue, cream, sand, grass, sky, sun, crimson, denim and grey $19 (add $2 for XXL)
Men's Long Sleeve (SSO2) White, green, sky blue, grey, sand, grass, sky, sun, crimson, denim and grey $21 (add $2 for XXL)
Womens's Crew Neck (SW15) White, pink, light blue, green, butter, grey, sand, grass, sky, sun, crimson, denim $19
Women's V-Neck (SW06) White, green, grey, light blue, cream, butter, pink, sand, grass, sky, sun, crimson, denim $19
Women's Long Sleeve (SW07) white, grey, light blue, pink, green, sand, grass, sky, sun, crimson, denim $21
Women's Sleevless (SW09) white, grey, pink, light blue $19

Be Inspired to Get Out and RUN!

2011-05-13T12:54:00.001-04:00

Watch this video Madison as she speaks to a local news station in Texas about the struggles of Joubert Syndrome and how running helps her feel empowered. Awesome!

2011 Team Haley Cooper River Bridge Run 10K

2011-04-03T15:48:00.000-04:00

J4JS at the Gusher Half Marathon and 5K

2011-03-21T14:48:00.001-04:00

Team Kayden, headed by Kayden’s mother Ashley, participated in the Gusher 1/2 Marathon and 5K in Beaumont, TX on March 12, 2011.

The team held a spaghetti dinner the night before the race. Great carb loading guys!!!

The team sold team shirts and JSRDF bracelets at the race as part of their fund raising efforts.

The team had several runners who ran both the 5K and the Half Marathon.

Team leader, Ashley finishing a strong 5k with a PR!

Fellow JSRDF member and board member, Alison Smith ran the 1/2 Marathon with the team.

A BIG thanks and congrats to team Kayden for your wonderful efforts in raising awareness and money for Joubert Syndrome and the JSRDF!!!
If you would like more information about forming your own J4JS team, feel free to contact us at jogforjoubertsyndrome@yahoo.com.

News 3/7/11

2011-03-07T09:43:00.001-05:00

J4JS, Team Kayden in the News!

Check out the article published yesterday in the Beaumont Enterprise. The article was on the FRONT PAGE of the sports section. Way to go Team Kayden!

Mom raises awareness for daughter's disorder through Gusher Marathon

By David Henry

Published 01:40 p.m., Sunday, March 6, 2011

Ashley DuBose is running the 5K race at The Gusher for her 9-year-old daughter, Kayden.
On Saturday, Beaumont will hold the second annual Gusher Marathon, Half Marathon and 5K race. In this week's question and answer segment, reporter David Henry interviews Ashley Dubose, who is running the 5K race for her 9-year-old daughter, Kayden, who has Joubert Syndrome, a rare genetic disorder characterized by the underdevelopment of the vermis of the brain that affects approximately 350 people in the United States and roughly 650 worldwide. DuBose is seeking donations to go toward research for the disease, which is often misdiagnosed because of the lack of awareness.
Q: What exactly is Joubert Syndrome? How did you realize your daughter had it?
A: Since she was our first child, we didn't realize that she wasn't hitting milestones. At 6 months she wasn't rolling over or sitting up, at 12 months, she wasn't even trying to pull up, much less walk or crawl. Around 9 months I took her to the pediatrician because we noticed that she would turn her head past an object and then turn back to focus on it, and that seemed very strange to us. She was referred to a pediatric ophthalmologist, where she was diagnosed with ocular motor apraxia (OMA). … When the need for discipline arose, she fought me, pulling against me, kicking, screaming, hitting with her fists - before I had even attempted a spanking. When she was 6, I called my dad in tears over a disciplinary incident. I had reached a brick wall with her.
He suggested we see a pediatric neurologist. A family member worked there, so we got a fairly quick appointment. After an hour-long evaluation, the neurologist ordered an MRI of Kayden's cerebellum. It was then that she was diagnosed with Joubert Syndrome. The piece of her brain that grows off the brain stem, called the vermis cerebellum, is shaped like a molar tooth. … Kayden is on the lower end of the Joubert spectrum. Many other children whom I know with JS cannot walk or talk, some are not cognitive at all, and many are blind.
Q: Why did you choose the Gusher as a means for promoting awareness for the disease?
A: It's the most publicity I can get locally. There's not a bigger race around here. I'm trying to reach as many people as possible. There was a similar Jog for Joubert Syndrome in South Carolina.
Q: When did you decide you were going to do this?
A: June or July. A friend of mine asked. I had just run a 5K and decided to take on the challenge of a half marathon. I thought it would be a good way to reach folks. I'm doing the 5K, not the half marathon now though.
Q: How many people have you gotten to sign up so far?
A: 49 people. Some are doing the 5K, some are doing the half. Some are friends, some are friends of friends. Many go to our church (Dowlen Road Church of Christ). One mother from Clear Lake has two children with Joubert Syndrome and she has signed up.
Q: You mentioned Kayden is high-functioning. Is she going to run in the race?
A: She is very high-functioning. She walked at about 26 months. She walks just fine and talks normally. She won't run but she'll be there at the table handing out shirts.
Q: Why is raising awareness for this disorder important?
A: Without knowledge of this rare disease, these people may never get the help they need. There are many more parents out there with a child on Kayden's level that know something is wrong but can't figure out what. If I can reach just one parent who has a child like (Kayden) or knows someone with a child like her, then it would be huge.
Q: How does it motivate you while running?
A: It gives me something to shoot for. I'm not athletic. Without this, I would have written The Gusher off a long time ago. This doesn't come naturally to me. If I didn't have this to shoot for, I would have quit a month ago.
DuBose is selling T-shirts for $15 and performance dry-fit shirts for $19 that say Jog for Joubert Syndrome. If you are interested in donating or buying a shirt, email Dubose, dubose.ashley@gmail.com

News 2/23/11

2011-02-23T07:55:00.001-05:00

J4JS Team Kayden to run The Gusher Half Marathon and 5K
Team Kayden, headed by Kayden’s mother Ashley, will be participating in this year’s Gusher Half Marathon and 5K on March 12th in Beaumont, TX. Team shirts and JSRDF bracelets are on sale, proceeds will benefit the JSRDF. The white shirt is cotton and is $15 and the blue shirt is a “tech” tee and is $19. Ashley and her team are also still taking donations to sponsor their run. Please contact us for more information if you would like to make a donation or purchase a shirt. Stay tuned for more developments on Team Kayden, they will be featured in an upcoming article in their local paper, The Beaumont Enterprise! Keep up the good work Team Kayden!

Joubert Syndrome featured in the book “Uncommon Challenges; Shared Journeys”
Laura Buchanan was recently published in the book called “Uncommon Challenges; Shared Journeys”. She wrote about her family’s journey in dealing with Joubert Syndrome. The book is a compilation of personal stories in dealing with rare diseases. The book is for sale on Amazon.com, all proceeds will benefit the rare disorders featured in the book, including the JSRDF. Check it out today and pick up a copy! Also, visit Laura’s blog for more information about the book’s release.

2011-02-11T13:30:00.001-05:00

Jog for Joubert Syndrome stickers are now available. If you would like a sticker, please email us at jogforjoubertsyndrome@yahoo.com with your name and address. We have a limited of supply of stickers that were given to us by Buildasign.com. Available while supplies last and are free of charge, but a donation would be greatly appreciated! If you would like to make a donation, please do so via our Facebook page.

Team Carter August 2010

2010-08-11T15:16:00.000-04:00

The guys and gals with Team Carter up in Indiana participated in the second race of their 3 race series last Saturday. They are ROCK STARS!!!! Team Carter has WAY surpassed their original goal of raising $1000, and have surpassed $2000!!!! Here is a short race re-cap written by one of the participants and a couple photos from the event. I’m so proud of you guys, keep up the good work!!!

The I RUN FOR CARTER crew took part in such a wonderful race this past weekend. We had seven runners and at least 16 walkers take place in the Broad Ripple Personal Best 5. This was a 5 mile run and a 5K walk. 85% of the race was UPHILL!!! The foundation that was supported from this run was Anna’s Celebration of Life Foundation. This foundation was started by a family of a special child whom passed away 2 years ago. This foundation supplies families with equipment, such as wheelchairs, etc., for their special children. They are happy to say they celebrate the “specialness” in ALL children. The father who founded this foundation heard about our I RUN FOR CARTER team and came up to Carter’s daddy, Andy, and introduced himself and told him that if there is anything that he needs to please get a hold of him. A wonderful connection was made at this race, and now Carter may be able to get that walker that he needs even sooner than expected. Each of our runners improved their time, which is great. One of the Team members, Natalie, placed 7th overall female!! A lot of awareness for Joubert Syndrome was raised. We had several people during our walk ask about Carter and/or Joubert Syndrome. One gracious lady even walked with Carter’s mommy, Linda, the whole time and even pushed Carter part of the way, all to find out more about Joubert Syndrome. It was definitely an emotional day, on so many different levels. We cannot wait for our next I RUN FOR CARTER race on September 18.

Team Cater, July 2010

2010-07-04T15:19:00.000-04:00

The “I Run for Carter” team ran the first race of their 3 race series yesterday, the CarmelFest Freedom Run 4.5 miler. I haven’t heard about the race first hand, but snagged these photos off their Facebook page. Love the shirts!!! Looks like you guys had lot of fun!!!

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Team Haley 2010 Cooper River Bridge Run 10K

2010-03-28T15:10:00.000-04:00

Original blog post, written by Laura Buchanan

I was been trying to think of how to write this blog post on the way back from Charleston today and I have decided that there are really no words to describe the Cooper River Bridge Run….overwhelming, crowded, awesome, crazy, intimidating, fun? None of them seem to do the the Bridge Run description justice. But all I know is we all had a blast, we all ran the entire thing in and had not too shabby finish times and we all are already planning our return trip and want to make this an annual event. My goal was to finish in under and hour and I did, so I am happy!!!

The Bridge Run itself is a lot to take in and mix it with the fund raising efforts we have been working on for the Joubert Syndrome Foundation and the generosity of our donors…..well, its almost too much to comprehend. On top of the money raised on Facebook, I have had several donations come in over the past few weeks, and my other team members, Ashley and Meredith had quite an impressive collection to turn in. I hope to have some final numbers by the end of the week, but I am very excited about the money we all raised.

We also accomplished another important goal of raising awareness. The three of us girls and Will all had on our J4JS shirts with the Foundation name on it, and my parents were holding a J4JS banner on the sideline towards the finish. We had several people ask us girls about our shirts and even had a guy in Starbucks after the race recognize us (although we had jackets over our team shirts he still remembered the shirts!!!!) and ask what our shirts were all about. So we had lots of opportunities to raise some awareness.
So I guess you all want to get a race re-cap huh??? Ok, Ok……Well the weather was kinda iffy. On the way down it was sunny and beautiful, nice warm SC weather, but the forecast did a U-turn on us and called for some pretty frigid race day temps. I think it was supposed to be 40 or 39 at race time so we stopped at Walmart and got some $5 sweatshirts from the little boys department with the intention of shedding them and leaving them behind just before the race started. I know it sounds wasteful to throw again a perfectly fine shirt but we wouldn’t have survived without them, and there was no way I could run with it tied around my waist. We also picked up some Ascis arm sleeves at the expo….which we almost missed because of the horrific traffic on the way into Charleston. But come Hell of high water we were wearing our team shirts and cute skirts.

Our day started bright and early at 5am. We quickly dressed and headed for the shuttle buses to take us to the other side of the bridge to the starting line. It was crazy to see so many people out at that time of day.

Bright and and bushy tailed on the shuttle

Then it was hurry up and wait. Quick porta-potty stop then go get in line because it was really getting crowded. The race sold out at 38,000 something regular entries and I don’t know how many charity runner entries. When I registered way back in January I was scared to register in any faster pace group than the 1 hour and over because I was running around 11-12 minutes/mile. Will registered in the 45-60min group so we didn’t see him at all until after the race. So we lined up and this was the view in front of us…..

and the view behind us……..Literally a sea of people!!!! So we stood and shivered in the cold for over an hour, but we didn’t care we were too excited.

Brrr it was so cold!!!!

Then the gun went off, and the race started……..and we stood still……slowing inching up to the starting line……..8 minutes later!! Getting 40,000 people moving at one time just doesn’t happen instantly!!! Running is a mass of people like this is something I was not prepared for. At times we were barely jogging, and really could have just walked. But we bobbed and weaved through the crowd and made it to a more reasonably paced group of people. It was frustrating and I spent a lot of energy darting around from side to side. I was not entirely happy with my pace, but there really wasn’t much I could do about it.

I gave the other girls some rinky dink little digital cameras to take pics during the race, but I doubt they (as in the cameras) took very good pictures, I haven’t downloaded them yet. I had my Sony and got a couple pics while running

The bridge….my dreaded nemesis for the last 12 weeks, the thing I have trained for and worried about for countless hours in the end wasn’t too bad. Not nearly as bad as I had made it out to be in my mind. I’m not saying it was easy by any stretch of the imagination, but not horrific.

The bridge was a mile into the run and it started to spread out a little once we were on the bridge. I really can’t remember much from mile to mile, I was pretty obliviously as to the mile markers. I did hear over the PA system that the winner had crossed the finish line when we were about 2 miles into it. That was crazy!!! I was unsure about listening to music or not, but Pandora (the music I listen to on my phone) lost its signal about a mile in, but I really didn’t care, it was nice to take in the sights and sounds around me. I wish I could say I was able to take in the beautiful scenery from the top of the bridge, and I do remember having a euphoric “wow” moment, but I honestly don’t remember what it looked like. The crowd started to bottle neck once we were off of the bridge and back on the street. I had kept up with my girls for the most part up until this point. I could at least see them. But once the crowd got bad again, I lost them and didn’t want to waste my energy trying to find them. I passed some interesting people around this point. A guy in a full gorilla suit, Elvis, a homeless guy running topless who decided to be a race bandit and run with us, lots of walkers at this point, unfortunatley a guy who fell out for some reason and bleeding from the head ( I hope he is OK), people of all ages, sizes, shapes, just a great mixture of people. As we got closer to the finish line, the crowd of spectators got bigger and louder cheering us on. I never did see my parents on the sidewalk and they never did see me. As we rounded the corner headed to the finish line the whole crowd of runners picked up the pace pulling me with them. I remember photographers in the middle of the street, I posed for a couple, then there was the finish line. I was kinda tired by this point, thanking God the finish line was finally here, raised my arms for the classic finish line photo (we’ll see how those turn out!) and breathed a sigh of releif that I really did make it. I was a little emotionally spent, realizing I had accomplished something really big. Not only physically finishing the race, but accomplished my goals of raising money and awareness for Joubert Syndrome. I was about to get overly emotional, but them my girls found me, giddy with the excitment of finishing, and I pulled myself together…….now where was the food and water line?????!!!!! We were RAVENOUS!!!!!!! Our official finish times are:

Laura: 58:40
Will: 47:28
Meredith: 57:01
Ashley: 57:02

It was sooooo cold after the race that we really didn’t get to stay and enjoy the post-race festivities, but we met up with the others for some photo-ops and hung out with our families for a little bit.

Then we went back to the hotel and thawed out, hung out with Haley and our parents for a while and just enjoyed the rest of the day. Here are some shots of our shirts

I have a lot more pictures, if you want to see them check them out here.
I feel like I really can’t describe my experience fully, I am still on a high from the whole experience. It is something I will never forget!!!!

Thank you again to everyone who has supported us, volunteered their time, donated to the cause, or spread the word, we would not have accomplished any of this without you!!!! Even though the CRBR is over J4JS will continue on with our fund raising and awareness efforts. I don’t know where we will go from here. I know that I need to come up with a new “plan” on how to run things (no pun intended) I feel like my original plan didn’t quite work out, and spent a lot of time spinning my wheels, causing unneeded frustration. But in the end we were successful and that is all that matter! I think I will take a short hiatus from planning or actively raising money, but I will of course keep running, training, and blogging. I will keep everyone posted on our future activities and plans. Keep on running!!!!!

J4JS Chili Fund Raiser at UNC

2010-03-13T15:06:00.000-05:00

We are all exhausted but energized at the same time. The Chili Fund Raiser today was a great success. We started our day around 9:30 today transporting gallons and gallons of chili and setting up. We anticipated a huge turnout today because of the ACC tournament, but UNC was knocked out in the first round and being that we were in Chapel Hill, I think we were stuck in a cloud of dark depression. Poor little Tar Heels were in no mood to partake in a celebratory bowl of chili. (Can you sense I am NO UNC fan????). It was also spring break, so the campus was not a flutter like usual. We had a lot of chili left over, I think we just over estimated a tad.

All that being said, we still had a great turnout and raised at least as much money as we had hoped for….official numbers are not in yet because there are a few straggling donations coming in. I can’t thank our volunteers enough. Several of Matthew’s co-workers spent several hours helping us out. Well, actually they more or less ran the whole thing today while we tended to Haley. They were AWESOME!!!! And we were blown away by how many vendors stepped up and donated tons of great stuff, including several gift cards, Ipod, and Corning Ware just to name a few. Please take a second to look over the logos at the end of the post for all of our generous donors. And last but certainly not least, a HUGE thanks to my little bro’ Matthew for coming up with the chili sale idea and doing most of the leg work in organizing this. This has been one of the biggest fund raisers our family and Jog for Joubert Syndrome has had for the JSF, without his idea, this would have never happened.

We had a laptop set up with a slide show running of kids with JS

And the raffle and silent auction table

Our volunteers hard at work

The guest of honor (Haley, of course), was an absolute angel. She did a really good job helping “sell” for us. She is just so unbelievably adorable, people couldn’t help but donate to the cause. We also had many many great opportunities to explain what Joubert Syndrome is and raise a lot of awareness. And because this was held at the Cancer Research Center, most people there were scientifically minded, understood the medical lingo and jargon and we didn’t have to simplify the explanations. Also, something that I was very excited about, is that one of the labs here is getting very interested in studying ciliopathies, which (without getting too technical) Joubert Syndrome is classified as a ciliopathy disease. So we may have gotten our foot in the door a little with some new research in the future…here’s hoping at least.

Haley with some of the volunteers

So we accomplished a lot today, raised some money and most importantly got the word out about Joubert Syndrome to some very important medical research-y type of people. SCORE for Joubert Syndrome!!!! Now, lets see how well I run 7 miles tomorrow on a stomach that was stuffed full of Matthew’s “super hot” chili today…..UGGGHHHHH!!!!
Huge thanks to our sponsors

Ellah

2009-12-12T14:01:00.000-05:00

Ellah was born on May 13, 2008 weighing in at 7.8 lbs and measured 18.5 in long. She was born with no complications and we took her home from the hospital as soon as I recovered from my cesarean section.

When Ellah was 2 months old, we took her for her routine 2 month checkup and that’s when we were told that there may be a problem with her eyes. Ellah never had control of her eyes and would not make eye contact with us. At 2 months old, Ellah was diagnosed with oculomotor apraxia (unable to track side to side with her eyes causing abnormal head movements) and was ordered an MRI and a VEP/ERG test.

Ellah’s MRI came back as normal but her VEP/ERG test came back as abnormal. Because Ellah’s test was abnormal we were sent to see a Neurologist. Ellah’s neurologist ordered another MRI when Ellah was 19 months old. When we received those results back, we were told that Ellah had Joubert Syndrome.

Ellah’s symptoms of JS are developmental delay (she crawls but uses a walker to walk), severe speech apraxia (she makes sounds but not words), and she has some type of retinal dystrophy because of her abnormal ERG test results. Ellah’s occulomotor apraxia has improved dramatically and blinks or jerks her head to move her eyes from left to right. As far as Ellah’s vision, she can see the smallest things on the ground and can make out colors because she knows the difference between white and pink milk, and always prefers the pink milk.

Ellah goes to physical therapy once every two weeks and speech therapy three times a week. She pulls up to a standing position but cannot stand on her own. She crawls using her hands and knees and will crawl to her walker, stand up, and go. Ellah is learning sign language and knows the sign for “momma”, “eat”, “more”, and “bye-bye”. She attends a regular main stream daycare and her favorite thing to do is feed her dogs treats and to play outside.

Layla: (written shortly before her birth)

Even with knowing the risks involved of having another baby with Joubert, I am 36 weeks pregnant with our daughter Layla Jaynn St. Clair-Rumore. We decided to have another baby for our JS daughter Ellah who is 2 years old. We do have another child but she is 17 years old and we wanted a sibling for Ellah close in age. We wanted Ellah to either have a sister/brother that she can relate to with the same disability or that can stand up for her and will always be by her side.

This pregnancy has been more than anything we could have ever imagined. I have heard that having your second isn’t as exciting. Because you are so wrapped up with your toddler, you forget to document every week of movement and feeling of your second pregnancy. During this pregnancy that is true, Ellah keeps up extremely busy but the normal thoughts of my pregnancy are altered. Instead of worrying about what color eyes or hair she will have, we find ourselves wondering if she will walk, talk, or not be affected at all.

Being a same sex couple, we did have the option to choose a different sperm donor and lessen the 25% risk of having another baby with JS. We decided to keep the same sperm donor because although Ellah is different and has been diagnosed with JS, we couldn’t imagine her knowing that we decided to use another sperm donor because we didn’t want another baby like her. Maybe Ellah won’t ever speak or won’t ever walk but she will always know that we except her 100% and would not want her any other way but the way she was given to us.

This pregnancy has gone as perfect as described in a textbook. We have followed the protocol for diagnosing JS prenatally which was published by Dr. Doherty from the University of Washington.
At 22 weeks, prenatal MRI was done. The results were sent to Dr. Doherty at the University of Washington and a week later we received a phone call from Dr. Doherty. The phone call we received put me into tears for over an hour. I still tear up to this day remembering that phone call. My partner Casey got the call from Dr. Doherty, and he told us that he was 95% sure that Layla was unaffected. Because Layla has a 25% chance of having JS, I see a specialist and have had more ultrasounds that we can handle and can fill up a photo album of prenatal pictures of Layla. We have been asked to do an MRI on Layla when she is born but have decided not to have any tests done on her as long as she shows no signs or symptoms of JS. Although we have received positive information from Dr. Doherty we know that there is still a chance that Layla may be affected. We have decided not to have any more children after Layla is born but do not regret the decision we made to have Layla. If Layla is affected with JS, we still stand by our decision 100% and will accept her no matter her differences.

Luke

2009-12-12T13:58:00.000-05:00

Our son, Luke, was born on his expected due date, July 8, 2008 without any complications at all. We have another son, Nicholas, who is two years older. Over the next couple of months after Luke’s birth, we had no idea that he was anything other than a happy, healthy, handsome baby boy. The only thing out of the ordinary that he did was breath quickly with a nasally “N” sound for about 30 seconds at a time, which we thought was cute and probably him just wanting to get attention.

After two months, Luke went to his pediatrician for his check-up and the doctor expressed some concern about Luke’s eyes did not seem to be working together and they were misaligned. He referred us to a pediatric ophthalmologist, who we saw the next month. That doctor indicated that Luke was too young for him to tell us anything. My wife was not satisfied with that response, so she took him to another pediatric ophthalmologist, who ended up dropping the “you should be very concerned” bomb on us. Among a couple of other heartbreaking syndromes, she mentioned the possibility of Joubert Syndrome based upon his hypotonia and possible cortical visual impairment. She referred us to a pediatric neurologist who ordered the MRI.

Luke had his MRI in January, about 6 months after his birth. The neurologist reviewed the MRI and didn’t notice anything out of the ordinary. When we reported this back to the 2nd pediatric ophthalmologist, she called back the neurologist and asked her to look for the “molar tooth sign” on the MRI, and the neurologist found it. Our neurologist then called Dr. Maria, one of the pioneers in the study of JS, and asked him to look at the MRI. As it turns out, she knew of Dr. Maria only because she randomly interviewed for a job with him previously, and she had no idea that he was involved in the study of Joubert Syndrome.

While the next year became a dizzying flurry of doctor visits, counseling sessions and emotional breakdowns, we were very fortunate in that we had a good eye doctor for Luke and a stroke of luck with the neurologist’s random association with Dr. Maria. We have also found a group of excellent genetic counselors locally. Additionally, we are fortunate that Dr. Maria, who recently moved to a different hospital as an employer, loves the South.

Luke now goes to a school for special children and also a church daycare with the “normals” and his brother in the afternoons three days a week. He receives speech; physical and occupational therapy weekly at his special school, though we are also having him see a nutritionist and a developmental therapist. Luke also sees his ophthalmologist, genetic counselors, Dr. Maria, and his nephrologist on an annual basis.

Ironically, we named him after Luke in the Bible, who is the patron saint of doctors and surgeons. He certainly does get his share of time with those guys. Luke is starting to say a few words (Bye and Dadda), eat some finger foods, hold his bottle, and scoot around the house on the floor. He does get frustrated easily when his environment changes and will bang his head on the floor when he’s upset. Crawling, walking and talking are a very long ways away, but we are glad that he chose us to share his journey with him.

We are also very thankful for the love and support we get from our family and friends, as well as the JSRDF. Without the JS Foundation, and their efforts to promote awareness to the public and medical community, we would probably not have ever gotten the diagnosis and would still be wondering why Luke isn’t growing up in the same manner as other children. We are also grateful for the work that J4JS has done to raise awareness and money for the foundation. If you’re reading this, then you are helping all of the families affected by Joubert Syndrome and we’re thanking you for your interest.

Jake

2009-12-12T13:55:00.000-05:00

Jake’s mother Faith contacted me last month, interested in posting his story. Jake and Faith are from the UK and are part of the Joubert Syndrome Foundation’s sister foundation, JSUK, a similar support network for those affected by JS in the US. Here is Jake’s story as written by his mother:

Jake was born February 2000. Weighing in at a healthy 8lb 9oz. I had a normal delivery but there was a doctor on standby because of meconium in my waters, there was a fear he may have inhaled some into his lungs. We got the all clear and moved onto a ward.

Later on in the day Jake became distressed whilst trying to breast-feed (which had been hit & miss since being born) and his breathing sounded erratic a lot of panting and gasping, so he was transferred to the special baby care unit. After a lot of test's and a few puzzled doctor's faces nothing could be found to be wrong, the monkey like noise was put down to part of Jake's personality and we were allowed home. Life at home just settled into a new routine, with his four brothers around there was not much time for Jake being fussed over a lot! Jake had to be fed from the bottle as it became quite obvious that he couldn't manage breast-feeding, he didn't like to be cuddled, pushed in his pram or handled too much, his breathing was still erratic at times but worse on a night. We often gave him a nudge to get him breathing again!

After several trips to our local GP about this, I came away feeling like an over anxious mother. By 7 months I felt that something wasn't right with Jake, his progress was slow he had made no attempt to use his hands and arms or sit up and he appeared lazy. A routine monitoring visit with the health visitor on his 7 month check confirmed my suspicions and we were referred to the hospital. The consultant began tests and referred Jake for physiotherapy explaining that Jake was hypotonic (weak muscles) whilst the investigations were carried out.

A physiotherapy program began for Jake and at the same time he began to decline health wise. Frequent chest infections and difficulty feeding led to weight loss and at one point we were drip feeding him from a spoon. However things did improve over time and he has gone from strength to strength.

After various tests and a CT scan Jake received his diagnosis of JS when he was a year old . What a shock! However the doctor also threw me a lifeline and gave me the internet address of the Joubert Syndrome Foundation. What a blessing!

Jake is now 10 years old. He is non-verbal but sits unsupported and is able to stand and walk with adult support for small spells. Jake communicates well by body language, eye pointing and choosing from up to 4 symbols/photos. He uses environmental controls with switches to control his DVD player and other household items such as a fan and food mixer, he also uses switches to access a computer. Jake is now beginning to chew soft food and has a passion for both food and the outdoors. He is extremely stubborn but generally a happy boy preferring routine and a calm atmosphere.

Jake has progressed much further in his physical abilities than I ever thought he would do and continues to make very small but important steps of progression. He never ceases to surprise everyone with his little leaps of development and pure joy for the simple things in life. Jake is the best teacher I have ever had . All he wants is to be happy and content nothing more and nothing less . Some people don't learn that in a lifetime and some people do not understand that a physically or learning disability is not a poorer quality of life in fact its probably a richer life!

I can’t tell you how many families affected by JS comment on what a “lifeline” the JSF is for them. Because JS is so rare, you feel alone and almost as if you are drowning in a sea of unknowns. You are lucky if the diagnosing doctor has even heard of JS. I’ve said it time and time again, this is why I so strongly support the JSF and why they need our help, so keep throwing out the “lifeline” to those affected by JS. Thanks Faith for sharing Jake’s story!!

Shaan

2009-12-12T13:52:00.000-05:00

Shaan was a full-term baby and I had a pretty uneventful pregnancy. However, something seemed wrong soon after his birth. The pediatrician at the hospital thought at first that Shaan had some fluid in his lungs that would clear up fairly quickly. When Shaan's erratic breathing continued, a neonatologist was called in. By that time, Shaan had an episode where he desaturated and he seemed to be experiencing even more breathing issues. Shaan had what was later labeled as a Dandy Walker cyst, although the implications of that were unclear during those first few days.

Shaan subsequently was transferred to two different medical centers and underwent a battery of tests. He almost coded during a barium swallowing study that one hospital conducted. He spent two weeks in the NICU. I remember vividly sitting with him at the hospital in the middle of the night while Christmas music was playing in the background. At home, I refused to turn our Christmas lights back on our tree until Shaan was discharged. I'm not sure why I thought that would be bad luck, but I did. I remember also feeling strange when I had to pick up some things for him at the baby store, while he was still laying in the hospital. He was discharged just a few days before Christmas with the diagnosis of Dandy Walker Syndrome. One medical resident at the second medical center tossed out the idea of Joubert Syndrome while the neurology team was rounding, but for some reason, the attending physician felt Shaan had Dandy Walker Syndrome (possibly due to the cyst on his head).

We had high hopes for Shaan early on. His physicians, including his neurosurgeon, said that some individuals with Dandy Walker Syndrome appear quite normal and have normal lives. However, within a couple of months, I felt some of this optimism dissipate. Shaan was not meeting any milestones and his eyes were not fully opening. Some of the physicians downplayed the significance of this, apparently thinking he would catch up. I then saw a new neurologist when Shaan was about three months old who said that what he was displaying (and failing to display) was absolutely not normal.

When we moved to a new state in 2005, I immediately completed the paperwork for Shaan to receive early intervention services. He received then and continues to receive physical, speech, occupational and developmental therapy. He also now receives music and horse therapy along with being a student at a special needs preschool.

Shaan's diagnosis changed to Joubert Syndrome when he was approximately two years old. His MRI film from infancy was reviewed again and he underwent genetic testing, which confirmed which genetic mutation caused his Joubert Syndrome. Shaan was also diagnosed in 2009 with a progressive retinal disease, Leber's Congenital Amaurosis, common in some other individuals with Joubert Syndrome.
I would describe Shaan's Joubert Syndrome as very severe in some respects and mild (so far) in other respects. At five years old, Shaan is unable to speak, stand, walk, drink from a straw or eat solid foods. He also screams and thrashes when he is upset--sometimes multiple times per day--and has a lot of sensitivity to sounds, being confined in a car, etc. I wonder sometimes whether there is light at the end of the tunnel in this regard. Shaan is mild presently in terms of his health. He can eat pureed foods by mouth and has few medical issues. We know that this situation could change at any time, especially given that Shaan's Joubert Syndrome was caused by a CEP290 gene mutation; individuals with mutations in CEP290 are believed to be at an elevated risk of developing kidney disease.
Shaan faces many struggles each and ever day, but we are grateful to have him in our family and to be part of an amazing network of other families touched by Joubert Syndrome.”

Shaan’s sister, Shefali, also wanted to write about her brother:

“I have a brother named Shaan. He has a disability called Joubert Syndrome. He can’t walk, he can’t talk, he can’t see very well either. When he was born he had a little bit of yellow on his skin. He takes therapy, he also loves toy with light and sound and thats about Shaan. What makes me sad about him is I wish he didn't have Joubert Syndrome. What makes me happy about him is I know that when I see some body with a problem I care a lot."

Thank you all so much for your support and caring about our cause…..the reason we run!!!!

Haley

2009-12-12T13:48:00.000-05:00

Haley is a Leap Day baby, coming into this world a rare and unique child from the very beginning. Little did we know how unique she would be. My pregnancy was totally normal, nothing lead us to suspect anything would be wrong. Her first months progressed as any normal child’s would but deep down I began to suspect something was not right. I was constantly comparing her progress to my friend’s children’s progress and she was not measuring up, but our pediatrician kept reassuring us she was okay. Time went on, and I became more impatient. Haley was not rolling over, attempting to crawl or stand, or babbling by 10 months and I insisted something be done. Our pediatrician finally referred us to a physical therapist. At our first PT appointment, she immediately recognized something was wrong with Haley and very quickly got us referrals to our local Early Intervention program, an ophthalmologist, and neurologist. We had to wait a couple months to get in to see the specialists, but once we did an MRI was done and we received a diagnosis within a few days.
Haley receives physical, occupational, speech, visual, and play therapy Monday thru Thursday. She is a very busy girl. At 20 months old she walked with the assistance of a walker, learned to crawl efficiently, and started to pull herself up and cruise. She finally learned to walk unassisted just before her 3rd birthday. She is able to speak, but is not typically understood by strangers. She uses a lot of word approximations that those close to her can understand. She follows directions and understands everything we say to her. She can “count” to 5 with her fingers, holding up the right number of fingers when asked. She feeds herself and eats normal foods. She still has some head ticks which are cause by occular motor apraxia because she can not track with her eyes in a side to side motion so she has to turn her head back and forth to see objects around her. This may or may not get better and might affect her reading ability in the future. Right now she does not have any of the liver or kidney complications sometimes seen with JS. Haley is in the very mildly affected group of people affected by JS. The spectrum of severity of this condition is very broad. We won’t know Haley’s prognosis until she is about school aged, but because she continues to make progress we have no reason to believe that she will not lead a fairly normal life. This is a not a condition that can cause regression of skills.
Because JS is so rare, none of our doctors had ever heard of it. That was a scary feeling, we felt all alone. But we quickly found the Joubert Syndrome Foundation and saw a light at the end of the tunnel. When we received the diagnosis last April we felt the timing was pretty lucky because the bi-annual conference was coming up that July. We were able to meet other families affected by this extremely rare disorder and felt like we finally belonged somewhere. We are already looking forward to the next conference in Orlando next July. This is why the JSRDF is so very important to me and why I am passionate about my cause. The JSRDF serves to educate the public, health care providers and families affected by JS, provide a support system for families affected by JS, and to promote JS research. Thank you for your continued interest and support in my cause. You all ROCK!!!!!

*Updated 6/6/11