I posted some of the following information in last year's post ("What is Joubert Syndrome") from Rare Disease Day:
February 29th (February 28th on the years there isn't a leap year) 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 has a very broad spectrum and affects people in different ways. We were able to see this clearly when we attended the conference this past summer (Joubert Syndrome 2013 Conference) and met several of the JS families. 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. Joubert Syndrome also can cause health complications (two of the major complications being of the liver and kidneys). There have been numerous individuals to lose their lives to the health complications of Joubert Syndrome. 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.
How can you help?
We would not be where we are now if it wasn't for our JS family and the Joubert Syndrome and Related Disorders Foundation. The JSRDF is a wonderful support to all those who are affected by Joubert Syndrome. The foundation helps with research, conference expenses, outreach, keeping families connected, and so much more! If you are interested in supporting Mackenzie and her JS family then please consider making a tax-deductible donation by clicking on the following link: JSRDF Donate
Another helpful group has been the University of Washington Hindbrain Malformation Research Program (UW Research Website & UW Research FaceBook). At this past conference we were able to meet several of those on the research team. Mackenzie was accepted into this research program soon after she was diagnosed with Joubert Syndrome, and I have nothing but great things to say about UW. They work extremely hard in their research and provide families with an extreme amount of knowledge on Joubert Syndrome. If you would like to donate specifically to their research then you can donate through this link: UW Donate
Joubert Syndrome isn't something I ever imagined having to deal with as a family. I still receive questions from several people about Mackenzie's future, her health, etc., and I'm not really able to answer them. But what I do know is that she is a very determined girl who won't let anything get in her way. Although I wish she didn't have to struggle with JS, I am thankful for all of those we have come into contact with and the friendships that we have gained (and will always have)! The support of our JS family is like no other along with the support we receive daily from our friends and family. This isn't the life BJ and I imagined, but I wouldn't change it. Mackenzie has blessed us tremendously and I'm quite certain she will continue blessing us!
