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Monday, February 29, 2016

World RARE Disease Day 2016

World RARE Disease Day is an annual observance held on the last day of February. Today, Monday, February 29th, Chizuk Amuno Congregation staff wore "jeans" for genes to raise awareness for rare diseases and improve access to treatments and medical representation for individuals with rare diseases and their families. According to the Global Genes website, there are approximately 7,000 different types of rare diseases and disorder and 30 million people in the United States are living with a rare disease. This equates to 1 in 10 Americans or 10% of the U.S. population. In the United States, a condition is considered “rare” if it affects fewer than 200,000 persons combined in a particular rare disease group. Approximately 50% of the people affected by rare disease are children. Approximately 50% of rare diseases do not have a disease specific foundation supporting or researching their rare disease.

Living with a family member with a rare disease can be rewarding and challenging at the same time. Ian, is one of the 50% of children affected with a rare disease. You become the person with the most knowledge on the disease, more than any doctor. You become the person breaking grounds for others in the future. You know when calling the doctor, you will most likely be the one who comes up with the treatment plan. All of those becomes are rewarding and challenging at the same time. There is no support group for Ian’s disease, he is 1 of 6 known cases. We have gotten support over the years through family, friends, Chai Lifeline and Gilchrist for Kids. Having these groups have been a blessing, yet I wonder what it would be like to have a specific foundation for support or research.

It has been a while since I have explained about Ian's disease...today is the day I will re-education those on PCH1A, a mutation of the VRK1 gene or Spinal Muscular Atrophy with Pontocerebella Hypoplasia....to sum it up Ian has a progressive motor neuron disease which robs people of their physical strength by affecting the voluntary muscles that are used for crawling, walking, head and neck control, and swallowing (Spinal Muscular Atrophy, SMA). Pontocerebellar Hypoplasia (PCH) is a group of related conditions that affect the development of the brain. The term "pontocerebellar" refers to the pons and the cerebellum. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals between the cerebellum and the rest of the brain. The cerebellum, which is located at the back of the brain, normally coordinates movement. The term "hypoplasia" refers to the underdevelopment of these brain regions. 

Ian does not have SMA or PCH, but these two rare diseases are used to describe two clusters of symptoms caused by the mutation in the VRK1 gene. Both SMA and PCH are rare diseases on their own...PCH1A makes another rare disease. Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. When Ian was born, we knew things were wrong but the doctors were not able to determine what was going on with him. When he was a toddler, we were told he had cerebral palsy. At the time this made sense; the word cerebral means having to do with the brain and the word palsy means a weakness or problem in the way a person moves or positions his or her body. It was in July of 2009, when Ian started to show signs of regression, we knew he did not have cerebral palsy, as it is not a progressive disease. In April 2010, we traveled to Utah to see a specialists, to find out Ian had a neuromuscular disease. We were told that which ever one he had would be rare, extremely rare. It was the first time we heard "his disease is progressive, non-treatable and non-reversible".

A person's quality of life is affected by the lack or loss of function due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease. As Ian's disease has progressed, we have watched him go from the active toddler who was 95% independent to the pre-teen, who relies on other for 100% of his needs. All of Ian's medications are treating the symptoms to make him more comfortable not to cure him . As a family, we have become increasing isolated from friends and family as Ian is pretty much homebound. He is most comfortable in his four walls. Brian and I have been able to get some emotional and informational support though social media and groups for SMA and PCH, but we have come to rely on ourselves and our acceptance of his disease to get through things. We continue to take it one day and one step at a time with the help of all the people who are in our reality. 

As parents you want to give your child the world, our world for our children is just different. We don't want our family to be "just" a statistic. We want Ian's life to have meaning and to make a positive difference in this world. We will do whatever it takes to give him everything and anything he needs and deserves, just as we do for Becca. Awareness and education are things we continue to strive for, Becca has even started to get into the awareness aspect. 

We continue to watch our sweet boy rely on others for all of his needs. We continue to watch our sweet girl struggle with her brother's terminal illness. As our journey continues, we continue to treasure yesterday, dream of tomorrow and live for today.







These are photos take on December 25, 2015. It is hard to believe that Becca and Ian will be 13 on April 22nd. We know we are blessed with each day we have our family of four. 


Check out https://globalgenes.org/ to learn more about rare diseases.


1 comment:

Marci Scher said...

Stephanie Rabinowitz ❤ this and you. Great photos of the kids.
Marci Weinberg Scher We ♡ you!

Adena Baer Sweetest pictures!!

Alicia Katznelson Broth Your posts are so meaningful. Thank you fro taking the time. {{{hugs}}}

Lisa Shankman Scherr I'm sorry to hear

Jill Pelovitz Marci I love your blog and this post is no exception. You educate about a very complex and emotional subject so elegantly and realistically. Thank you for always sharing insight as your family travels on this journey. We are all learning from your experiences. Ian and your family are always in my prayers.