Thursday, September 6, 2012

double appointments.

Yesterday was a busy day.  
We had double appointments; both with neurology and genetics.  This was our first set of appointments since getting a diagnosis over a month ago.  I wasn't nervous but I was anxious to see how this was going to play out.  After all, until now we have been on a quest for answers so every appointment was crucial to getting us closer to that goal.

We first met with neurology.  It was quick and easy  We walked away from it scratching our heads and saying, "So this is what it's going to be like..."
It was a wake up call to the fact that we are simply maintaining care for Mabel's life and we are no longer desperate for more than what's already being done.  I get to live with my little girl and focus on her for who she is and not what she may or may not have.
She has NCL.  But it is the furthest thing from my mind most days.

But then we met with our amazing geneticist, Dr. S and I'm reminded again at just how complex this world of rare really is.  He is still focused on pinpointing Mabel's exact gene that is affected.  This can be a really long process and could even end with us not knowing.  The truth is, we aren't as far in medicine as we could be.  We aren't as far as I believe we should be.  But all in all, it's perplexing to see a child like Mabel whose answers don't come in a cut and dry format.  Instead, it's a little more work and a lot more questions.  

For instance, although rare, it is possible to have a secondary disease.  It is possible to have a second gene affected somewhere.  This would bring up more questions and more testing.  It feels overwhelming because ultimately, when is enough really enough?
I suppose when a Dr. is looking at my child and suggesting that there is more to know than just what we do, I am on board with figuring that out.  We draw 3 ml of blood every 3 months for another test and we move on with our day.  It's not as if we are invasively testing her for things that are irrelevant.  It's a great possibility that we could discover things about Mabel that would help in future testing of other children.  

Again, it comes down to the fact that our little girl is here now and is doing rather well, considering.  While she is able to take part in any kind of testing or research, that is what we want.  We want answers and we want other families to NEVER have to live without them the way that we did.  It's a long shot, but my dream is that some day-whether 30 years down the line or 200 years from now, we will see a generation that is without rare disease.  We hope to help eradicate this community that has no answers and very little hope for their children.

So after another hour spent discussing and anazlying Mabel, we left that appointment feeling very strongly that we still have a long way to go.  I am so thankful to have a geneticist who is so involved in Mabel's care.  I am so thankful that he speaks reality and though it's hard to hear, we are at least given the facts of this disease and what to expect in days, months or years to come.  It's hard to understand and even harder to fully comprehend but at least I am able to try now, whereas before it wasn't even an option.

It still doesn't register to me that I have a child who is sick and will probably get sicker.  Dr. K, our neurologist, said that in 25 years she has only seen 3 cases of NCL, Mabel being her 3rd.  She also stated that she knows several families who, at some point, cannot manage their child's care at home.  Inside of myself I cringed knowing how difficult of a decision that must be for a family but promising myself that as long as I have breath I will do all I can do make sure this baby is cared for by the people who deeply love her, here in our home.  I knew it was going to look awful, and be extremely hard at some point down the line, but hearing her say that made me question why?  
What is it exactly that is going to change?  The disease presents so differently in every child and I'm just unsure what it will look like for us.  I suppose that's one of the scariest thoughts for me.

But I am fortunate in the disheartening fact that I was able to see Val take such good care of Stef and now Stevie.  I wasn't with them often (and I regret that deeply now) but I have heard of what Stef's disease did to her body in the end.  I can't imagine but I have accepted the fact that we may deal with something very similar at some point.  These diseases are ugly and horrifying.  They do things to these children that no one should experience or be able to comprehend.  Mentally preparing isn't an option because our brains step in and protect us from that kind of reality and heartache.  So, with full knowledge of how hard this may get, I will just have to take each day as it comes and do my very best.  I will pray and depend on God for the strength that I, myself, will never have enough of to make it through.

So with two big appointments behind us once again, I feel strangely lighter.  
So this is what it is like living in the 'known' and not the 'unknown.'  This is what it is like to maintain life and live it with ease and not question or worry.  I feel grateful that I have experienced both ends of this awful spectrum because my heart bleeds at every turn for parents who have lived what we have or who will have to in the future.  I now have an empathy I never knew existed. 
Which brings me to this...
If you are a parent of a child with special needs, who is undiagnosed, or diagnosed with a rare disease and you have stumbled upon my blog, I'm glad you are here.  You are not alone.  You are stronger than you know.  If you feel led, please email me:  I'd love to connect with you more.

I have a good friend who just got an official diagnosis of autism for her son yesterday as well.  I have yet to talk with her but if you feel led, please pray over her.  What you know in your heart and what is proved to be true can be wonderful but also heartbreaking.  She is strong and able but I  know that she would be thankful for the support and prayers.

1 comment:

Jessica Kramasz said...

I'm still keeping all of you in prayer. I canot imagine how hard this must be, and yet you are so strong.