Sunday, January 19, 2014

15q24 Microdeletion Syndrome: We Will Not Let Fear Overcome Our Joy

I come from a family who's attitude has always been, "if we don't know, it doesn't exist" or "if you can't see it, it doesn't exist."  It drives me nuts!  I don't like to be in the dark.  The more I know, the better prepared I can be.  Throughout all of our doctors appointments, blood work, other testing, I told multiple friends and family I would be really surprised if "something" didn't show up on her genetics panel.  After all, how could Mila be so developmentally behind without reason.  Granted, would any diagnosis change our plan of care?

On January 8th, my phone rang.  As soon as I heard Dr. Spees identify herself, I knew she was calling to deliver news we might not want to hear.  "Something showed up on Mila's genetics test that I would like to discuss with you and Michael.  Unfortunately, I don't know anything about it, so I'd like to do some research before we talk about things."  She informed me I could call the front desk to schedule.  Did she think our conversation was over?  "Well, I can't get off the phone until you tell me what abnormality showed up," I replied.  She goes into a discussion about the 15th chromosome...a partial deletion of the "q" arm...it doesn't have a name...base pairs...blah, blah, blah...it's known right now as 15q24.  I don't even think we had hung up the phone before I was googling to find some truth.

I was sad.  I was not relieved.  I texted Michael immediately.  For a second I thought, it might have been better not to have an answer at all.  Is this microdeletion really going to change anything?  Awaiting Michaels phone call, I couldn't find any concrete information that bled black and white.  There's maybe 30 cases known in the states.  The spectrum was so wide.  Where will Mila fall on the spectrum?

I came across an article written by a non-profit organization called Unique:

http://www.rarechromo.org/information/Chromosome%2015/15q24%20microdeletion%20syndrome%20FTNW.pdf

It provides basic information that most can interpret.  It still wasn't black and white.  The spectrum remains very broad.  We have no idea what Mila's outcome will be.  We have our concerns with her speech delay and what her IQ could potentially be.  Will there be frequent vision, hearing, and dental visits?  Will she need a cardiac work up?  Is she at risk for seizures?  Letting everything sink in for a few days, I felt as if our new knowledge was taking away from the happiness we had been experiencing for the last few months.  Her genetic deletion isn't life threatening.  She has a full life expectancy.  Michael and I have never said "why us."  We have never felt sorry for ourselves.  If there is one thing we do feel, it is sadness for Mila.  We are sad that she isn't developing like other kids her age.  We are sad she could be viewed as "different."  Mila is a special soul.  Without her delays she would still be "different" because there is only one Mila!  She is a girl of many quirks and characteristics that set her apart from anyone else, and she is ours!  I WILL NOT let our fear of the unknown continue to strip the joy that Mila brings to our lives.  If I continue to dwell on the negative, I won't be able to enjoy what really matters.  I could not be any happier then where we are now and where we've come from!  My baby is motivated, stronger than she's ever been, and happy as can be!  

I was fortunate enough to come across an organization called, The Global Gene Project.  They bring awareness and support to all those dealing with genetic disease.  I submitted Mila's story to them with eagerness to become aware for myself, and also become involved with their movement.  The staff who has replied to my emails have been nothing short of wonderful!  They provided me with support group info, a contact name and number of another mom, and had Mila's story published in less than a week of submitting it.  Check out the great things The Global Gene Project is doing!

Mila Fights 15q24 Microdeletion Syndrome

Story Hero: Mila J. Young
Location: Colorado Springs, CO, United States
RARE Condition: 15q24 Microdeletion Syndrome
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Limp noodle, lazy bones, Mila bird, noodle bear…those were just a few nicknames we had for our sweet baby.
She loved music. She loved being talked to. She loved to be loved. Her head bopping received attention everywhere we went. It was her personal dance move. Once she could sit on her own, that is all she did.
Absent speech, crawling, walking, rolling over, brought grave concern at one year old. We sought early intervention and have been receiving amazing care from our therapists for almost four months. At almost 18 months old, my daughter, Mila, is just now beginning to crawl.
She doesn’t talk, but she makes the sweetest, most beautiful sounds. Her blue eyes sparkle for miles, and her smile is electrifying! After an MRI and a lot of blood work, her genetics panel came back with an abnormality called 15q24 microdeletion syndrome. What the heck does that even mean?
Unfortunately, it is a new found disorder that does not have a lot of supporting evidence. The spectrum of quality of life is so broad, we might have unanswered questions for years to come. It will be many months before we can meet with a genetics team.
I do not know where to even begin.
I need more answers.
I need more evidence.
I want to be involved.
I want to talk to other moms fighting this same fight.
I need to give Mila the best quality of life possible.
I will fight for her until I take my last breath. We have to fight. If we don’t, who will?