Tuesday, September 2, 2014

Be Aware

Our family is well aware that rare can be more common than you think.  Before Ainsley was diagnosed with Sotos Syndrome I was ignorant to the thousands of rare conditions that affect children every day.  Every new month brings new awareness campaigns.  The problem with this is that the campaigns receiving the most attention are the ones that most people are familiar with.  It is wonderful that so many people support these causes however, I would like to bring some attention to a few conditions that are not so popular.

September is National Childhood Cancer Awareness Month, National Food Safety Month, National Guide Dog Month, National Hispanic Heritage Month, National Honey Month, National Hydrocephalus Month, National Preparedness Month, National Suicide Month, Cranio-facial Awareness Month, Histocytosis Awareness Month, National Wilderness Month, National Prostate Awareness Month and Chiri Malformation Month. 

September is a busy month.  It is an excellent chance for us to take a few minutes to learn something new.  I have heard of most of the things listed above.  I was not aware of histocytosis or chiri malformation so I decided to do a little research and share what I learned. 

1 in 200,000 children are born in the US with histocytosis every year.  Histocytosis is a general naming of conditions that involve an abnormal increase in immune system cells.  It is mostly seen in children and the peak ages are 5-10 years old.   Histocytosis covers many different diseases.  Prognosis, treatment and follow up vary depending on which disease the person has. Some children live full lives while young children, especially infants, are more likely to experience body wide symptoms that result in death.

Chiri malformations are structural defects in the cerebellum, which is the portion of the brain that controls balance.  Chiri malformations affect females more than males and is believe to occur in 1 in 1000 births.  The rates are believed to be higher due to some people never developing symptoms therefore never being diagnosed. In most cases this condition develops while the child is in the womb but can also occasionally occur due to injury, infection and toxic chemical exposure.  There are 4 types of chiri malformations.  Type 1 is the most common while type 4 is extremely rare.  Treatment varies depending on the type of chiri malformation and symptoms.

Being a member of the rare disease family, I feel that we were blessed.  Ainsley has a higher rate of developing certain conditions but none of those are life threatening.  So many parents are thrown into this family out of the blue with outcomes much worse than Ainsley's worst case possibilities.  There are so many families that have lost their children to diseases that most of us have never heard of.  Increased awareness brings more attention to these conditions which results in additional funding, research and possibly a cure.  We never know when we will be thrown into the world of rare diseases. We all need to take a moment to say a prayer for all of the people affected by histocytosis diseases and chiri malformations.  We never know if or when these or another rare disease will find it's way into our lives.   If we were in the shoes of these parents we would do everything possible to make sure the world was aware and how to support finding a cure.

You can learn more about these and other rare diseases from the National Organization of Rare Diseases at www.rarediseases.org.  Let's all make a point to share awareness for 1 of these diseases with at least one person this month.

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