Monday, April 12, 2010

I have a lot on my mind…

Oh where to start…I have been on a mission to get answers: answers to why insurance keeps denying medical necessities for our girl, answers to why Lucy can only take in so much food before she is obviously uncomfortable, answers to how to get your four year old to poop on a daily basis and then to do it on the potty, answers on how to get Lucy pooping on a daily basis too, answers to our genetics questions, answers to how we are going to get to Arizona for the National Mitochondrial Medicine Symposium in June, answers to how we are going to manage Lucy’s new feeding schedule…

I am currently staring at a To Do list that has me motivated to start crossing things off of it!  Unfortunately, at the top of my list is to write several letters of appeal to insurance for claims that they should be paying (insert profanity here, and add negative comment about our government nationalizing health care).  We are looking into getting a health advocate to help us with all of our insurance issues.  In theory this sounds ideal, but this will require me to tell this person all of Lucy’s issues, diagnoses, reasons for appointments…I am overwhelmed at the thought of doing this and having to keep this person informed of every aspect of our medical life.  I have a hard enough time keeping Drew up to date!  I also have to contact Medicaid to find a case manager to help us with all of the claims that our primary insurance denies.  My first attempt at this would have been more successful if I spoke Spanish.  After having written this, this process sounds a little like a cat trying to catch its tail.   I know that as time goes on it will only get harder, and we are not just talking about a few dollars in charges that insurance has denied, so… I will pursue it.   

Lucy’s GI nutrition appointment on Friday has my head spinning. Her growth is stalling and she needs more to meet her nutritional needs and to keep her hydrated.  So how are we going to do this?  Their answer -- She needs to have her bowels emptied everyday so that she has room to put in more volume.  My question -- How do you get her to poop everyday?  We already use Miralax on a daily basis, and this yields results every 4 to 6 days.  Before you drop your jaw, she used to only go twice a month, and at one time in her life she went as long as 28 days before she had a bowel movement!  We  have been dealing with this issue her entire life.  On Friday, after 24 months of this, they felt that this was a reason for her rate intolerance issues.  For those that do not know, constipation is a symptom of mitochondrial disease.  What you also need to understand is wanting/waiting for your kiddo to poop is worse than watching a pot boil, it’s just not going to happen when you need it too!  I have been trying to get Lucy, and Sophie for that matter, to have regular BM’s for over two years!   Increasing Lucy’s fluid intake with hourly boluses of water, trying to push her rate, increasing her Miralax dosing without making her too uncomfortable, trying natural laxatives, and putting her on an enema schedule is what we are going to try.  Whoever said, “S**t happens!”?

Enough said, new topic…

On Friday, after nearly a year, we received Dr. Shoffner’s final report from Lucy’s muscle biopsy.  In this report the tests that were still pending  when we received his preliminary report in July further supported her diagnosis.  Unfortunately, her genetics testing did not yield any result.  This is not because she doesn’t have a genetic defect (all mitochondrial diseases are classified as in-born errors of metabolism), but rather because genetics testing has not advanced enough for doctors to find it.  He made mention in the report that there will be a test for nuclear genetics coming sometime in the near future, I’ve heard this mentioned before.  Dr. S believes that Lucy has a nuclear gene defect(autosomal recessive) as opposed to a mitochondrial gene defect (maternally inherited), based on the types of mitochondrial defects he found in her testing.  Seeing it complete and in black and white with the words FINAL REPORT written across the top of it feels so…real, so… permanent.   

I mentioned in a previous post that I joined the UMDF in September, and no sooner did I attend my first meeting, I was approached and asked if I would join the board.  There is such a need for volunteers and to raise awareness for this disease, how could I say no.  I attended my second meeting yesterday afternoon, which happened to also be the first meeting for the new board.  A representative from the corporate office of  the UMDF was there to establish guidelines and help facilitate the planning process.  I have to admit that it has been a while since I have been involved formally with an organization of this magnitude, I felt a little rusty with the process.  I learned a lot about who’s who in the mitochondrial world locally in just the two meetings that I have attended.  I was also able to share a little about our experience with getting Lucy’s diagnosis  and hear about other’s experiences.  I am hopeful that our experience will help other families on their search for answers, that is what I have to offer.    

Once a year all of the “who’s whos” in the mito world gather for an international symposium on mitochondrial medicine.  This year the symposium is in Scottsdale, Arizona and we are bound and determined to go!  Drew and I JUST (ha ha)  need to sit down and work out all of the logistics of planning a trip of this magnitude.  Where there’s a will there’s a way! 

And this is where I will end for tonight.

2 comments:

Heidi said...

(((hugs))) Just sounded like you needed one! Sorry to hear about the insurance woes, a case manager can certainly make things easier once its in place.

The constipation thing is something I can relate to. This has been Jacks issues from early on, but I must admit he's never gone a month! Poor girl. The Miralax is the only thing that works for him. He's doing OK now, at 1-2 caps a day. It use to be more than that. But if you want a kid to get out of diapers, thats tricky when its all liquid! So its a balance act getting it just right so he can make it there without an accident. And thats not easy when you have weak muscles. I just wanted to let you know, Jack wasnt FULLY potty trained until last Sept, he was 6 1/2. Both Jack and our 15 yr old DD, with possible Mito continue to struggle with this. Hopefully this will improve for Lucy.

I hope Mito Symposium is a possibility for you this year. I also hope to make it since its much closer to us, this is definately the best year to gather the $$$ to go.
Continued hugs and prayers for your family--
Heidi & Jack

~plaid said...

Having read all that puts a lot on MY mind. I am waiting for the mtDNA results for our youngest, and your post has me putting myself back to reality that my hope for a result through that is not really likely.

Our insurance company assigned us a care manager (that's what they call them) and that has been an immensely important help for us. We don't have a diagnosis, but have all sorts of specialists and tests and procedures every year, so it gets to be too overwhelming for one mom with medically complicated children to cope with. I definitely think if your insurance isn't providing it, to get that set up. It will be worth it.

I started a new blog to explore our world of "suspected mito" because we haven't been able to get a diagnosis and the uncertainty of everything we've been through and are going through gets the best of me at times. I was thinking of posting links to families who also are facing testing, or who have and finally have a result. I'd call it something like "Mito Mates" or something like that. Would you mind if I list your blog there? I know I don't really have to ask permission with a public blog, but I just thought out of courtesy I'd check.

I've read about the symposium now on your blog and another, and saw it on UMDF's website. Would that be helfpul for a family who has a possibility of mito, but still hasn't been diagnosed? We currently don't have severe complications, but w/ two kids who died who "looked fine" overall, we never know if we'll have another crisis event suddenly or if things will continue to be mostly okay, with a few mild medical complications.

Anyway, thanks for sharing your insights. I'm definitely gaining a greater appreciation for families who are living with mito disease, even if it ends up that is not what is causing all our family's problems. You guys are amazing!