February 28th is Rare Disease Day! According to www.rarediseaseday.org, a rare disease/disorder is defined as rare when it affects less than 200,000 Americans at any given time. Joubert Syndrome is definitely considered a rare disease by that definition! The Joubert Syndrome and Related Disorder Foundation has less than 1000 individuals worldwide in their database. That doesn't mean that there aren't more- just means that this is the number known within the Joubert community. However, I'm quite certain that number isn't too much higher.
Rare Disease Day gives me a great opportunity to educate others about Joubert Syndrome and rare diseases/disorders/syndromes in general. Did you know that there are 7000 different type of rare diseases and that 1 in 10 Americans are affected by a rare disease? (source: Global Genes) Most likely you will run into different people throughout your lifetime with some sort of rare disease.
So, what is Joubert Syndrome?
The Joubert Syndrome and Related Disorders Foundation has on their website that Joubert Syndrome is diagnosed by an MRI of the brain. The MRI shows the "Molar Tooth Sign" which is absence or underdevelopment of part of the brain called the cerebellum vermis which controls balance and coordination and a malformed brain stem. The JSRDF states that Joubert Syndrome is "characterized by decreased muscle tone, difficulties with coordination, abnormal eye movements, abnormal breathing pattern and cognitive impairment. It is one of a growing group of disorders called "ciliopathies," caused by dysfunction of a part of the cell called the cilium. Disruption of cilium function likely explains the incidence of eye, kidney and liver problems in individuals with Joubert Syndrome."
Joubert Syndrome is not only rare but it also has a very broad spectrum not just with developmental delays but also with the health complications. For those of you who have FaceBook you can check out a Milestones survey that Joubert Syndrome Science (JSRDF Scientific Committee) put together. Some individuals are in wheelchairs their whole life while others walk by 2 years old. Some are nonverbal and others start talking when they are toddlers. Some require assistance 24/7.
It is very important for everyone to realize that Joubert Syndrome (and all diseases, disorders, syndromes, etc) affects each person differently. Take the time to educate yourself on the differences in order to learn more about the person and his/her disorder.
For those who want to learn more about Joubert Syndrome, check out the following:
- Joubert Syndrome & Related Disorders Foundation website. It is filled with a lot of good information and resources. Also check out who they chose as a cover photo on the main page.:)
- The TV show "The Doctors" had a segment on a family affected by Joubert Syndrome. There are 5 clips that you can watch online by clicking http://www.thedoctorstv.com/main/content/Joubert_Syndrome. This is a very inspiring story that is definitely worth watching!
- Below is a youtube video of pictures of Mackenzie and many of her JS friends done by a parent who has 2 children with JS.
It can be very difficult to have a child with something as rare as Joubert Syndrome. We have no other families near us who are affected by JS. Doctors, therapists, every day people know very little (if that) on Joubert Syndrome. But with that being said, it is a blessing that Mackenzie has something so rare. The Joubert Syndrome community is very close. A conference is held every 2 years, the FaceBook and Yahoo groups are very active and everyone gets to know one another, and the support is the best I could ask for. This past weekend we had the opportunity to meet a few other families affected by Joubert Syndrome. We went to the Race for R.A.R.E (or http://www.raceforrare.com/ if you don't have FaceBook). Mackenzie met 3 other children with JS and BJ and I were able to get to know other parents going through exactly what we go through. It was a great weekend! I had fun running a 5k in the pouring rain! Mackenzie definitely motivates me to do things I never thought I'd be doing! The best part of the weekend was running across the finish line hearing Mackenzie yell "Go Mommy Go!".
I will end with this: I have numerous people question me often on what Mackenzie's future looks like since she has Joubert Syndrome. I honestly don't know. Her health is very good but will she eventually have the kidney or liver complications? She is on the mild end of the developmental delays but what type of services/assistance will she need throughout school and then after school? Will she go to college and get married? I don't know the answers to any of these. But what I do know is that she is VERY determined. Even though there is a lot of uncertainty with her future, I know that she will accomplish so much in her life! BJ and I are extremely grateful for our wonderful and unique daughter!
