Thursday, August 22, 2013

A Sad Diagnosis

Last week I wrote a post about a woman who had recovered from Mesothelioma.  I mentioned in that post that there was something heartbreaking going on in my own family.  Yesterday, the news my sister Beth was dreading was confirmed.  Her youngest son Ben has Duchenne Muscular Dystrophy.  Let me start from the beginning and I will do my best to get through this without crying ten times.

Benjamin is three years old.  He is the sweetest, loving, most adorable little boy.  However, he has always been delayed in his motor skills.  My sister noticed it even when he was a baby and took a while to hold his head up.  At the time she thought it was just because of his big head.  Because the boy does have a big head.  A trait that my little sister Megan can tell you runs in our family, because she has the same noggin.  However, he took a while to crawl and walk.  I told her not to worry.   Remember, none of my girls walked until 18 months and he is the youngest, so what does he have to walk for?  He has a sister and brother to bring him whatever he desires.  When he wasn't showing any signs of walking by 17 months, Beth decided to get him assessed to try and get physical therapy for him.  

At the time he was diagnosed as having low tone.  That basically means it's a bit more difficult to activate the muscles and you have to work  harder.  Lana went through the same thing with physical therapy when she was a baby.  They were approved for state services and Ben received therapy to get him moving.  It wasn't until 22 months, but eventually he did walk.  

My sister was relieved, but it was short lived.  His speech wasn't where it should be and even though he was walking he didn't seem to be progressing to running, jumping, or climbing stairs.  She did get speech therapy for him as well, which has helped tremendously.  Still no running or jumping though.  Then when he turned three, the free services ended.  As far as the state was concerned he was walking and talking so that was good enough.  Beth knew something was off though and wanted him to continue getting the therapy he obviously needed to improve movement.  

At his three year old check up in July her pediatrician referred her to a neurologist to get him a more formal "low tone" diagnosis so he could again receive services.  My sister had no idea how her life would be turned upside down when she walked into that doctor's office.

The neurologist examined Ben and asked him to get up from the floor from laying down position.  When he did get up he used something they call a "Gower Manuver".  It basically looks like walking your hands up from a Downward Dog position in Yoga.  This is a classic sign of MD.  The neurologist immediately ordered a blood test and started talking to my sister about possible diagnosis, but didn't confirm anything.  He wanted to wait for the blood test before there was any further discussion.  

The blood test was to test Ben's CPK levels.  These levels in unaffected children will be under 300.  Ben's came back at 12,000.  By this point my sister had been on the Internet plugging in his symptoms and had all but diagnosed him with Muscular Dystrophy.  Of course going on the Internet to find out what's wrong with you is never a good idea.  I have a pain in my back that comes and goes, and according to Web MD it's either a pulled muscle or ligament or a tumor.  So you know.  I either need to stretch more or make out my will.  Not always a good idea to research those things.  Unfortunately, this time she was right about when she found.  

After his blood test came back, they were sent to have genetic testing done.  This will completely confirm the diagnosis.  However, genetic testing takes 4-6 weeks and my sister was losing her mind.  So she made an appointment with the Muscular Dystrophy clinic near them in Virginia, to have doctors who were experts in this subject examine Ben.  

That appointment was yesterday and even though my sister went in there praying for a miracle, she did not get one.  The doctors confirmed what she already knew and what the genetic testing will prove for sure in a month.  Little Benjamin has Duchenne Muscular Dystrophy.  

I'm sure none of you know what this is really.  Why would you?  We didn't know what it was.  To me, MD was a disease where kids were in wheelchairs and once a year Jerry Lewis did a telethon to help raise money for them.  I never paid attention it.  Why would I?  We don't see things like that until it happens in our own backyard.  Then we sit up and pay attention.  I'm paying attention now.  Here's what I know.  It is a fatal genetic disorder.  Boys with this disorder experience progressive muscle weakness.  When they reach about 8-12 they will lose the use of their legs and be in a wheelchair.  During the teen years, the arms will lose function and since the heart and lungs are muscles, they will eventually give out.  As of now men with Duchenne do not live past 25-30.  (Here is a video that explains it in more detail if you're interested.)

That is the part where I lose it.  Not live past 25-30.  Look, I know none of us are ever guaranteed another day here on this planet, for ourselves or our kids.  However to KNOW your kid won't make it past 30?  There are just no words.  The pain I feel for my sister is overwhelming at times, so I can't even imagine what she must be feeling.  This just plain sucks and it's not fair.  It's been really difficult the past couple weeks talking to her about this and trying to help her come to terms with it.  I still don't think she has fully done that yet.  Although, yesterday she did post about it on Facebook to let people know what they are facing and to eventually ask for donations to the cause, so she is taking steps toward acceptance.  I know if it was me I would be in denial for a while.   I hadn't said anything on here as well until we knew for sure, but part of the reason for me telling you this story is to ask all of you out there to help out.  

Next weekend is the MDA telethon.  They are going to broadcast it on ABC Sunday night at 9pm.  Please turn it on and call in to donate.   Even if it's $5, ANY amount will help.  My hope is that even though there isn't a cure for this now, perhaps with more research, they can find one or at the very least a better treatment.  One that will keep Ben moving and alive longer.  That is the hope that we have to hold on to for now.  The hope that with donations and science, progress can be made.  Years ago being diagnosed with HIV was a death sentence.  Now people are living 20, 30 years with HIV and not developing AIDS thanks to the research and drugs available.  

However, even though we should always hope for something better, my sister has to deal with her reality of the situation now.  Her family is facing a life long struggle with this.  Even if you don't have the money to donate, please say a little prayer or send good vibes out into the Universe for her family.  They need all the positive energy and good will they can get right now.  

Earlier this week, Sonya came home from school with a quote she has to memorize by Friday.  It fits this situation so well, I felt like someone was sending us a message.

"You never know how strong you are, until being strong is the only choice you have."- Bob Marely  

My family has to be stronger than ever for my sister and each other.  I will do whatever I can to help this little guy out,  because for some reason these diseases always affect the sweetest, most loving kids. Which is exactly who Ben is.  

1 comment:

Anonymous said...

Hi....I haven't read your blog in awhile (life happens), but checked back in for some updates and saw this. Also noticed there were no I wanted you to know I am praying for your nephew. I don't have a Google Account, thus the reason for my identity showing as "anonymous".
Kellie T.