HDL2

Today is rare disease day. I haven't talked about it much to people outside of my family but my sister has a super rare disease (HDL2 - Huntington's Disease Like 2) that will shorten her life. Only fifty cases have been reported worldwide so not a lot of information is available. I don't know why some people are handed trials that are unbearably painful but I do know that families are forever and that her mind and body will one day be restored and perfect.

I'm including my dad's words about Camila that he had posted on his own blog.

Update on Camila

We were invited for a visit to Camila's doctor this past month in which they told us that the University of Utah research lab had found an abnormality in her chromosomes that identified the disease that has caused her declining health.  It is called HDL2, or Huntington Disease Look Alike. It creates excess protein to her brain that is killing her brain cells. This is a very rare disease that was passed to her from her mother, who also had a similar illness.  There is no known cure at this time.  However, it does confirm what we had suspected and gives us a better understanding of the reasons behind her declining health.  It also clarifies our expectations as to her future health as the disease progresses.  

This process of learning about Camila has occurred by many small miracles.  We were first contacted last year by her aunt, who had placed her in our home when she was 9 years old.  This contact had been facilitated by our previous stake president in Brazil who knew about our adoption.  He still works for the Church in Brazil and is responsible for the Membership records in Brazil.  One day when they were trying to contact this aunt, who had become less active and was in the address unknown file, she asked about Camila. Through subsequent contacts, I shared details with her about Camila's sickness and she shared her understanding about the similar sickness in Camila's mother and grandmother.  This prompted us to request testing for Huntington's Disease. When she came up negative, we were surprised, but the University of Utah was willing to continue research based on a research grant.  All this led to our eventual understanding and the diagnosis of her illness.

In retrospect we have been able to see how this illness had been attacking Camila for many years.  Where many, including us, were too quick to blame others or circumstances, we now understand what was going on.  It has also given me an amazing feeling of love for this special girl who has had so many challenges in her life.  I know that she will be returning to her Heavenly Father who will welcome her home with open arms.  She has been sent here to help each of us to learn and grow.  Her situation is difficult, but none of it is her fault.  We don't know how long she will continue to live as her brain cells deteriorate, but we want to help her to be as happy as possible while she is still on this earth.



I'm also posting some screenshots of pictures that I found on my dad's computer of Camila and how she looked before this disease started taking over her mind and body.