Friday, April 30, 2010

Oh,What A Day!

(I wrote this late last night and am just now getting to posting this.)

I woke this morning feeling a bit panicky.  You see, Lucy slept through the night last night, for the first time in…well, I can’t even remember when.  Drew and I were getting the kids ready for school when I told him I was worried since I did not hear from or see our little night owl since she went to bed at 10:30pm the night before.  Yes, we are having some issues with getting her to fall asleep once we put her down(this topic could be a post all it’s own).  Drew joked with me and told me I should be feeling rested and relieved.  After all, this was the night I have been dreaming of (pun intended) for a long time, or maybe not? 

After sending Drew and the kids off for the morning, I quickly checked some e-mail, threw a load of laundry in the washer, and took a shower.  Lucy was still asleep when I got out of the shower, normally the shower wakes her up.  I kept listening for her on the monitor, but heard nothing.  My heart was telling me something was not right.  I went in her room to wake her for therapy at 9:40 am and I instantly knew she was in trouble, I could smell it!  Sometime during the night her feeding tube came disconnected and I found our girly covered in green bile and formula, this hasn’t happened to us since getting the Mic Key system.  After a frantic search for her glucometer and the phone, I stripped off all of her clothes and put her in the bathtub.  She was obviously floppy and bluish in color, not good signs.  I checked her glucose and found it to be 22, yikes!  I called Drew to tell him what had happened and that I needed to call her doctor, only which one?  You see, we are in the midst of establishing a new mito doc for Lucy.  On Monday, we had a very productive appointment with Dr. R at DuPont and he agreed to be her main DuPont doc and was very willing to work with our existing pediatrician.  I called our existing pediatrician to give her a heads up since she has dealt with us on these types of issues.  She felt it was best to take Lucy to the ER, but to give Dr. R call and let him know what had happened.  If only I knew Dr. R’s number without having to search for his card in the abyss of all of Lucy’s medical records.

In the meantime Lucy’s PT arrived minutes after all of this began.  I was frantic to get Lucy bathed, fed, and dressed, and Ruth was more than willing to assist me in whatever I needed.  I finally called Dr. R’s office and they had him paged.  I checked Lucy’s glucose again shortly after nursing her, bolusing her a feed, and hooking her back up to her feeds.  Her glucose level was much higher 63, but still below normal.  Dr. R and I discussed Lucy’s status, color, tone, etc… and current glucose level.   He wanted me to wait and see how she was tolerating her feeds and after an hour call him back with an update.  I expressed to him that this was not our normal protocol, normally we bring her in for some IV D10.  In all honesty I was happy that he wasn’t pushing me to bring her in, but I was a little worried that he doesn’t quite know our girly as well as we do. 

As if it wasn’t crazy enough this morning, Ruth had scheduled for an orthotist  to come during her session time with Lucy to fit her for a hip bracing system that she thinks could help Lucy strengthen her weak hips.  Ruth tried calling the orthotist to let him know what was going on but was unable to get a hold of him.  He showed up at the very end of our PT session when Ruth was leaving.  Lucy was still pretty floppy and just laid on the floor while they attempted to brace her and get her to stand.  Yeah, that was not going to happen today!  At this point I realized that I had to leave to pick Sophie up from preschool as it was 11:30 and she was done!  We wrapped up our not very successful PT session and left to get Sophie.  At this time I was surprise to see that Lucy was perking up a little, but still floppy. I checked her glucose one more time and she was now at 73, one number shy of being at the low end of normal. 

I picked Sophie up from school just a little late, and proceeded on with our day.  As long as Lucy was on her pump I thought we should go on with our normal Thursday activities.  Sometimes it’s easier if we are out and about when Lucy is on her pump, she likes to sit in her wheelchair and experience the world around her.  She is content to just sit, and that makes feeding her just a little easier.  After getting Sophie settled into ballet I called Dr. R back to give him a status update.  I told him that her glucose levels are up from the 22 she was at when I first checked her this morning to 73 at last check.  This is when he said, I thought you said her level was 63.  It was, when I called him, but it started out at 22.  His response, “Oh, 22 is low I would have had you come in for fluids right away!”  He congratulated me for getting her numbers up so quickly, and then said that he understood why I was hesitant about his lets wait and see plan.  He explained to me why Lucy was bluish in color, her cells were busy trying to keep her body running and they did not have enough energy to go around.  He also explained that the green bile was because her intestines were slowing down and that green bile is what happens.  Oddly I felt better knowing that he would have responded the way that I initially felt he should have.

Ironically, we had an appointment on Wednesday with Lucy’s endocrinologist and we discussed Lucy’s fasting intolerance and hypoglycemia.  We all agreed that now that we know we are dealing with mito, putting Lucy through a fasting study is not really necessary.  In the future we may want to see just how long she can go without food, but for now we are certain it is not very long!   

I am purchasing a bed wetting alarm system for Lucy that will alarm when it detects any moisture.  I have also gotten some great advice from some mommies of other tube feeders.  Apparently, there is an extension set that is better than the kind we are using for Lucy, they don’t disconnect as easily.  You can bet that I will be calling our HHC to get some of those babies shipped out to us first thing Monday morning! 

Sunday, April 25, 2010

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.

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.

Wednesday, April 7, 2010

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!”

P4045787

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

Archive 102503 082

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

P4075880

P4075879

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.

P3195719

(When a jump rope is no where to be found, a Hula hoop does the trick:)P2135565

P4075882

P4025743

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

Happy seventh birthday Meggie O! 

Sunday, April 4, 2010

Happy Easter

Oh what a beautiful day….

P4045818

 P4045836

P4045831

P4045842

P4045811

P4045804

P4045849

P4045808

 

Happy Easter!