Let the appointments begin…again

Life has gotten in the way of blogging again.  I have written several posts that are works in progress, and I’m not sure if I will ever get to posting them.  I wrote one or two last week after THE MOST FRUSTRATING appointment we have ever had with Lucy’s metabolic doctor.  That’s saying a lost since every appointment with them has been frustrating!  Writing is therapeutic, but I am grateful that I chose to hold off on posting, as my emotions were all over the place last week.  A week later, still frustrated and angry, I am better able to describe why it is I am feeling what I am feeling.  We always leave those appointments with more questions than answers, and more confused than we were before!

Since our first meeting with metabolism they did not feel that Lucy “fit the profile” of a kid with a metabolic disease.  She had severe growth issues which led them to believe that she had GI issues, and endocrine issues, and neurological issues….the list goes on and on.  With every appointment we would come to them and they would say now she needs to be seen by this or that specialist, or she needs to have this or that done to rule out a diagnosis.  It was after several months of this, and the instinct that there were some things not normal about our little one, that lead us to seek a second opinion.  We are so grateful that we did, as many of you know, this second opinion gave us her diagnosis.  Metabolism at CHOP feels that they cannot comment on Dr S’s diagnosis since they “don’t understand his testing methodology”, I kid you not!  They also told us that it is against CHOP policy to contact Dr. S to discuss his methods of testing.  Oh yeah, we have heard it all!  They don’t feel it is necessary to “repeat her biopsy since they are certain that Dr. S preformed his testing on an adequate sample”.  REPEAT, the entire reason we went to Atlanta in the first place was so that we would NEVER question whether or not her biopsy was preformed correctly!   Just to make all of you want to jump out of your chairs and scream “what the ****”, they asked us to bring Lucy back in four months so that THEY could perform the new nuclear DNA sequencing that Baylor should have available by then.  Dr S will be performing this sequencing when it becomes available.   You should all be happy that I did not send out my first attempt at posting about this appointment :)

Finding a doctor who has any knowledge or experience with mitochondrial disease is a challenge.  We feel blessed to have multiple medical resources available to us.  Even with all of these resources, Drew and I have decided to take Lucy back to Atlanta in July for a follow up.  Our hope is to discuss in detail Dr S’s report and clarify any issues we have about her diagnosis.  Before we go, we have multiple appointments with many of Lucy’s specialists.  We made a conscious decision to keep Lucy out of the hospital/clinic setting this past winter and as a result we have a backlog of appointments.  This week we see neurology, diagnostic referral, and endocrinology.

Stay tuned for further updates.

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.

April 7th…

This morning Megan woke up bright and early, got dressed, brushed her teeth, and fixed her hair.  By 6:45am she was ready for the day. I asked her why she was up so early?  Her response was, “Mom, it’s my birthday and I don’t want to waste a minute of it!”

Today we celebrated Megan’s seven years of life!  Seven years ago we were blessed with a beautiful baby girl!

Megan’s spirit is amazing, you can feel it radiating from her very presence.  Our lives would not be the same without her! 

Megan is our “little mama”.  She is the quintessential big sister, looking after her little sisters and big brother too.  She is always ready on time or early.  Yes, I gave birth to a child who is forever early, coming from Drew and I know that sounds impossible, in fact she made her arrival five days before her due date.  It’s just a part of who Megan is.  She is our most responsible child, our biggest mess maker, oh so very loveable,  and almost always happy (unless she is tired or hungry).  She has the best gummy grin right now, and often looks at you over the top of her glasses…so cute.  She is really into jumping rope, bringing one with her wherever she goes…yeah, she loves it that much!  She loves playing dolls, Barbie's, Littlest Pet Shop, house,  hospital or anything that mimics our “real” life.  She and Sophie “escape” on the weekends into their various play plots, only making their presence known when their tummies are rumbling or if there is a disagreement in the land of  make believe.  Arts and crafts are her thing; that girl can do wonders with some crayons, markers, glue, scraps of paper, and a little tape.  She is a wonderful reader who loves reading chapter books or story books to Sophie and Lucy.  She loves shoes, in particular flip flops.  She even jumps rope wearing them!   She is our fruit lover and pasta connoisseur.  She loves school in particular lunch, recess, and gym.

(When a jump rope is no where to be found, a Hula hoop does the trick:)

Megan loves life… we feel honored to be living it with her!

Happy seventh birthday Meggie O! 

Happy Easter

Oh what a beautiful day….

 

 

Happy Easter!