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A little Q & A...

January 23, 2013
People ask questions because they are seeking knowledge, information, understanding...I fully respect and GET that.  I like to do the same thing, just ask any of our docs :).  We often get asked questions about this, that, or the other.  I thought I would share a few of these questions and answers with you.  Perhaps it will help you to understand, give you some incite, or possibly confuse you more.  Whatever, keep asking questions, knowledge is power.

Is Lucy a candidate for organ transplant?   I can't recall if I have ever written about this here.  The answer is no, Lucy is not a candidate for intestinal transplant, or any kind of transplant. There have been a few attempts at intestinal transplant in kiddos with mitochondrial disease, but sadly the success rate is extremely poor.  Even if it were possible, Lucy's mitochondrial disease is very progressed, she most likely wouldn't survive the immunosuppressant medications that are necessary to prepare the body for transplant.  Lucy has way too many issues stacked against her!  Mitochondrial disease is a disease that can affect everything in the body down to the cellular level. It is thought that even if transplanting her were an option, the newly transplanted organs would eventually become affected by the disease.

What about EPI743?  A while back I talked about a new study drug that has been tauted as "the newest med" for patients with mitochondrial disease.  EPI743 is a  relatively new study drug that Drew and I learned about at the Mitochondrial Medicine Conference in Chicago back in  June of 2011.  At that time the FDA had just granted orphan drug status to the manufacture of EPI743.  This allowed patients who did not meet the original criteria for the study drug to receive the study drug if they met other less stringent criteria for the med.  By less stringent, I mean that patients did not need to have a diagnosis of leigh's disease or confirmation of their genetic mutation to become eligible for the study med.  Rather patients had to meet other diagnostic criteria, one of which was being deemed ninety days to end of life.  Lucy met all of the new qualifications for the study drug, however was not a candidate to receive EPI743 because of the way the med has to be administered and absorbed.  EPI743 is a fat soluble enzyme that is administered via the GI tract with food.  In other words, it does not come in an IV form.  Lucy's intestinal failure and malabsorbtion issues disqualified her as a possible candidate for EPI.

What options do we have remaining?  Ahhh....this is the million dollar question at the moment.  The way I see things, and believe me there are many others who are looking at our girl and seeing things differently, but in the end the opinion that matters most is what Drew and I decide is best for Lucy.  Currently we have put all of our proverbial eggs in one basket yet again, that basket being the GI doc at Hopkins in Baltimore.  We are waiting to hear back from him to find out what options he recommends for trying to alleviate the symptoms associated with Lucy's cholestasis and reoccurring cholangitis.  We heard back from the GI doctor at Jefferson last week, his recommendation was  a maximally invasive surgery in which we would reconstruct Lucy's bile duct by bringing up a portion of her small intestine and attaching it to her liver.  This option would definitely get rid of her floppy bile duct, but replacing one failing organ with another failing organ will most likely create an entirely new set of problems that will more than likely shorten Lucy's life.   Here is what we do know, we cannot fix the dysmotility problem or stasis in Lucy's bile duct.  Her entire gastrointestinal tract including her biliary system lacks any motility or movement as a result of her underlying mitochondrial disease.  What we are hoping to be able to do is alleviate some of the things that are contributing to her pain and reoccurring cholangitis. Repeating an ERCP and placing a more permanent stent in Lucy's bile duct is an option that the GI doc at Jefferson is willing to consider, but expressed concern that it is not going to fix the underlying issue, and may not fix anything at all.  Like I mentioned, we understand that we are not going to be able to fix her underlying issues.  What we are hoping for are viable options that will alleviate some of the pain and discomfort associated with cholestasis and cholangitis.  Removing Lucy's gallbladder is something that our surgeon has been wavering back and forth on doing for our girl.  It will not fix her problems, but again could potentially alleviate some of the pain and discomfort that Lucy is experiencing.  Weighing the risks versus the benefits, that is what we have been doing on a daily basis.

What is Lucy's prognosis?  This is a very tough question to answer!!  She is being described as "end of life".  Mito is an unpredictable disease, and as such no two patients are the same or follow the same path for their disease.  Although there are similarities between patients, there are just as many, if not more, differences.  These differences are what make "the end" difficult to predict.  For Lucy it is predicted that there will come a point in time when we will no longer be able to treat her reoccurring infections, and as such we are faced with the unthinkable, how long and how far are we willing to go to keep her body alive.  The decisions we make will play a role in how long or short Lucy's time here on this earth will be.

Is Lucy comfortable?  Comfort has always been our goal for our girl.  I can not express to you how difficult it has been to find just the right balance of medications to keep Lucy comfortable.  Pain management has perhaps been the most frustrating component of Lucy's disease to manage.  Lucy metabolizes meds very differently than you or I, or anyone else that our medical team has encountered.  What we assume will work for her doesn't, and what we think will not sometimes does...that's just so Lucy.  We have a baseline level of pain control that is helping to keep her pain tolerable.  Tolerable is the best we can hope for at the moment until we are are ready to say to our team that we are willing to give her comfort at all costs.  Lucy never ceases to amaze us with her coping abilities, in particular how she has learned to cope with pain.  It is both heart breaking and astonishing to witness our little girl endure so much, she is our hero.

How are we doing?  This is such a difficult question to answer in one word, or even a few sentences.  We are overwhelmed with so many feelings and emotions.  There is so much uncertainty in our life at the moment that we are not sure what to say.  We are relying on our faith, family, and friendships to help guide us through some of these difficulties in our life.  Our focus is on our entire family, we are blessed to have one another no matter what the circumstances.

I know that there are many more questions that I could discuss, but I mentioned in the title that this was going to be "a little Q & A".  Feel free to ask more questions, it has always been my desire to share our story in hopes that by doing so our story might just help others.

Thanks as always for your thoughts and prayers, love and support.  We could never do this alone.
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Melody said...

My friend has an external bile duct drain. You all know best, but I didn't know that even existed until my friend got one.
Hugs and prayers!
:) Melody

Tammi VanderWal said...

Thank you for answering those questions. Your story is helping me. I am learning so much from you. My daughter also has mito, she is 15 mo and we are just in the beginning phases of things. I've said before that I pray for your little girl everyday. She is very strong and I truely admire her strength. May peace be with you!