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To sleep…

July 29, 2010

or not to sleep…

that is the question!

Currently Lucy and I are at the Hotel DuPont undergoing a sleep study, rather I should  say will be undergoing a sleep study.  Lucy that is, not me.  My sleep study will occur, not as scientifically I might add, over the next 24 to 48 hours when we see how long my body can go with little to no sleep.  I am sitting in the bed next to Lucy having a staring contest with her and typing this blog post.  It is 10:47PM, over one hour since they made her look like a teeny tiny mummy and plugged her into a very cumbersome electrical box, and…well…my girly is still awake playing with her covers, giving me the cutest eyes you ever did see!   I am hoping that if I continue focusing on my computer screen that she will grow tired of me not paying any attention to her and fall asleep so that we may actually get some results from her sleeping and not awake! 

It is freezing in this room, I took the blanket off of the bed I am sleeping on and laid it on top of her two blankets we brought from home.   Hopefully she will be more comfortable and fall asleep soon.  I on the other hand am freezing,  but will wait until she is sound asleep before I dare even open the door to get another blanket from the linen cart in the hallway.  Chalk this up to just another one of  the things a mom does for her kiddos!

Say a prayer that Lucy sleeps tight and that we get some results from doing this study.

As always, thanks for all of your love and support.

PS  I forgot my camera cord or else I would share some of the pics I took of her tonight. 


July 24, 2010

So how’s your summer going?

Ours has been busy to say the least, but we are making the best out of all that summer has to offer…


Sophie is loving it…


and Jack too!


Megan is just as pleased


and Lucy is too...


some of the time!


We have eaten our fair share of ice cream


and experienced our fair share of hot weather!


We have have spent many afternoons playing with friends


and soaking in the pool


We have ridden on planes, trains, and automobiles



Been to the desert…


and the World of Coke…


Where we allowed our kids their first taste of Coke…



some liked it…


and some did not!


I teased my husband and said, “Look where all our hard earned dollars have gone.”



We visited the Georgia Aquarium where we dreamed of swimming with the fishes in the deep blue sea…



We have been busy, having fun, and staying up way past our bedtime…


but hey, it’s summertime!

A medical update of sorts…

July 23, 2010


I’m a summer slacker; I admit I have not been the most diligent blogger as of  late. I have been spending most of my time with my kiddos, trying to keep up with daily living, and traveling from East to West and North to South. We just returned from Atlanta where we had our first follow up appointment with Dr. Shoffner’s physicians assistant Maureen Starns. We took the entire family in hopes of making it even more of an adventure. All in all it was a good trip, we spent some much needed time as a family (30 hours in the car brings new meaning to the phrase “quality time”), visited the spectacular Georgia aquarium and the World of Coke, ate our fair share of takeout and ice cream, and had a productive albeit overwhelming appointment about Lucy’s disease and what that means for her/our future. What we hoped to get out of our appointment was more clarity in regards to Lucy’s diagnosis, what that means for her in the future, and what we need to be doing for her now. Genetically we do not know where a mutation exists, and because we do not have this information we do not have a “definite” diagnosis.  Instead, Lucy is said to be “highly probable” of having mitochondrial disease, the closest definition of a diagnosis for having a mitochondrial disease when you do not know your genetic mutation. The criteria by which they diagnosis mitochondrial diseases are complicated, not  unlike the disease itself. All of this “highly probable” wording always had me wondering how likely it could be that Lucy has some other disease that could be causing her issues. They made it very clear to us that Lucy’s diagnosis is SOLID, biochemically and as well as clinically, there is very little doubt that Lucy has anything but mitochondrial disease and that it is most likely a primary defect.  Hearing this has helped us to process her diagnosis even further!  We were told that we can stop looking for what else it could be, instead we will focus on finding our genetic mutation.  In the next one to two years we were told there will be a new test which looks at 1000 nuclear DNA mutations, and they feel it is very possible that we will find our genetic mutation in this next generation of testing.  Knowing where a mutation exists will allow us to test our other children to see if they are affected with this disease.  We strongly suspect that Sophie is affected with a milder form of this disease, and only time will tell us what impact it will have on her body.  This just…sucks!  We had labs drawn on Sophie to see if she has any of the indicators of mitochondrial disease in her blood work.  

We also had labs drawn on Jack, for the last few months he has been “off”.  He has lost some weight, his energy levels are low, and he his appetite has been poor.  Honestly, we do not feel that he is affected with mito, but we would be remiss if we did not at least acknowledge that it could be a possibility.  Jack had some earlier testing done in June which indicated that his body was fighting off something, but we don’t know what exactly.  Jack had mononucleosis in kindergarten and his current symptoms are very similar.  We are keeping a close eye on him and are hoping and praying that he bounces back to the Jack we know and love so much!

Are we worried about Megan having mitochondrial disease?  No, not really, she is truly the picture of good health!    I would love to frame her growth chart as it is about as perfect as they come, she falls smack dab in the middle of the charts and follows the curve beautifully!   If we were suspicious that Lucy’s disease was as a result of a mitochondrial DNA mutation (mtDNA) then, yes, we would be more worried for Megan.  MtDNA mutations are only passed from the mother to her children.  Even though Megan is not symptomatic for having mitochondrial disease, she could carry the gene for mitochondrial disease and pass it on to her future children if Lucy’s disease were a result of a mtDNA mutation.  Lucy has had extensive testing done which examined her muscle and blood for any know mtDNA mutations, so far none have been detected.  I know I have mentioned this before, but the type of defects that were discovered in Lucy’s biopsy are more commonly found to be as a result of a nuclear DNA mutation.  So this is were we are focusing our genetic search.

In addition to having mitochondrial disease, Lucy also has a cerebral foliate deficiency(CFD) as deteced by  low levels of 5-methyltetrahydrofolate in her cerebrospinal fluid,  this is a neurotransmitter disease.  According to Dr Shoffner, ten percent of mitochondrial patients suffer with a CFD.  We started Lucy on Leucovorin, folinic acid, about a year ago per the urgent recommendation of Dr Shoffner.  CFD can be treated and its symptoms minimized with the the use of folinic acid.  Unfortunately, this disease is lifelong as well progressive.  There are numerous symptoms, “the onset of symptoms caused by the deficiency of folates in the brain is at around 4 to 6 months of age. This is followed by delayed development, with deceleration of head growth, hypotonia, and ataxia, followed in one-third of children by dyskinesias (choreo-athetosis, hemiballismus), spasticity, speech difficulties, and epilepsy(Developmental Medicine and Child Neurology March 2009).”  We also learned that Lucy’s dramatic change for the worse in her sensory processing could be as a result of her CFD progressing.  Unfortunately, the only way of retesting her levels of 5-methyltetrahydrofolate is to repeat a spinal tap.  Obviously, this is not something that we wish to subject Lucy to routinely, instead we are incrementally increasing the dosing on her Leucovorin to see if we can alleviate some of her symptoms.

Health wise, Lucy is holding steady!  Drew and I really believe that knowing what we are dealing with has helped us to stay on top of Lucy’s symptoms and be proactive in treating her.   Looking back on this last year, we can’t deny that feeding Lucy 22hr/day has helped to keep her body stable and has avoided metabolic crises.   Behavior issues are our newest concern, and because we know that the brain is a major organ of the body that requires a tremendous amount of energy, we are hoping and praying that by increasing her med dosing on her Leucovorin that we will see a decrease in her behavior issues.  We are also going to be more proactive and seek the knowledge and expertise of a behavior therapist.

We continue to have therapy three times a week in our home, and are going to be starting aqua therapy at DuPont in the next few weeks with a wonderful PT who has worked with Lucy off and on throughout her life.  We are still working with the augmentative communication specialist at DuPont and are learning A LOT about these types of devices and how they may help assist Lucy with her communication needs. Lucy is strong-willed and stubborn, qualities that no doubt  have gotten her to where she is today, but also make teaching her anything a bit of a challenge:).  

We started nursing care at the end of June and what a blessing it has been for us!  Our nurse just happens to be the nurse at our kids elementary school, we love her!  She has come into our home and taken on many, if not more, responsibilities than I ever thought possible.  She will be with us full time until the end of August when she will have to go back to being the nurse at our kids school.  We will soon meet our next full time nurse who will take over for Helen in September.  Helen has offered to fill in on the weekends if need be, and on the occasional Friday night so that Drew and I may have some much needed alone time with one another. 

My time is up as Lucy is screaming for me and the natives are getting restless in the basement.  I will do my best to update more regularly.

UMDF Symposium (Lengthy!)

July 1, 2010

I am going to do my best to recap all of the events from the 2010 Mitochondrial Medicine Symposium that took place in Scottsdale, Arizona at the JW Marriott Camelback Inn Resort, where yes indeed it was hot and dry.  I had an awful time trying to stay hydrated in spite of  the excessive amount of fluids that I was drinking.  By the second day, I was loosing my voice and developed a choking nagging cough that was very annoying not just for me but for those around me.  Sorry! 

Drew, Lucy and I boarded a flight to Arizona at 7:00 AM Wednesday morning, which meant that we left our home at 4:30 AM (nuts I know, but  we planned this on purpose hoping that Lucy would sleep for some of the flight)!  Three suitcases one solely devoted to our daughters medical records, one wheelchair, Lucy’s car seat and base, our laptop bag, diaper bag, feeding pump, one insulated princess lunchbox full of a days supply of  formula and medicines, three quart size bags of medicine for security to have to inspect, and our sanity later we were on our way.  Lucy did well on our flights thanks in part to her being buckled in to her car seat, and having a Vitamin Water bottle to play with.  Lucy loves to screw the lids on and off of bottles, don’t ask me why, she just does.  I left some of the purple water in the bottle for her to shake and swirl which entertained her for quite some time until she tipped it upside down and took off the cap.  We changed plans in Memphis where we also changed clothes and ran like the dickens to catch or connecting flight.  When we arrived in Phoenix we quickly learned that the airline had damaged Lucy’s wheelchair..ugh!  We suspect that someone dropped it on its side and bent the frame just enough to where we have to manually push it into place to lock it.  Her seat is heavy and weighs sixty pounds, one of the stipulations to getting her chair was whether or not I could physically lift it.   Delta was apologetic and had two of their mechanics look at it to see if they could fix it.  Admitting that they would probably do more harm than good they left it alone and agreed to pay for the damages when we take the seat back to our wheelchair clinic to be repaired.  I just need to add wheelchair clinic to my list of too many things that I have to do now that we are home. 

On Thursday Lucy woke us at sunrise, she was clearly on east coast time.  We spent the morning talking a walk, getting in some cardio, and briefly lounging by the pool.  Lucy is  suddenly more sensory averse to swimming, she has about a five to ten minute tolerance in the water before she starts screaming like she is on fire.  By 9:50 we were ready for lunch and nap time, unfortunately the pool side restaurant did not open until 11:00.  Oh well, we had a lovely brunch in the main hotel restaurant where they kept brining Lucy small boxes of Cheerios to keep her happy.  We took the hint loud and clear and ate quickly, as dining out with Lucy is truly an experience like no other.   Thursday afternoon after nap time we walked over to the main conference area and registered for the “ask the mito doc” segment of the conference.  We signed up to meet with a Dr. K from Huston who we had heard wonderful things about.  We also were invited by a member of the UMDF staff to meet with a geneticist from CHOP, Dr. F.  We were asked to share some our experiences with getting Lucy’s diagnosis with this doctor.  She was wonderful and offered to see Lucy in clinic if need be.  She raved about Dr. R, our newest go to Mito doctor at DuPont, saying that he is remarkable and that we are in very good hands with him on our team!  This meeting alone clarified so many issues for us and made us feel better about some of our experiences we have had on this journey.    Our meeting with Dr. K was interesting in that Lucy was an absolute cranky pants and showed off her very irritable side.  We were discussing Lucy’s irritably with Dr. K as it was such an obvious issue, when she asked us about Lucy’s ammonia levels.  She told us that increased ammonia levels in mito kids can cause irritability.  In her clinic they treat kids with elevated ammonia levels with Lactalose or L-arginine.  She told us that she has seen dramatic changes in some of her patients and encouraged us to look into this as a possible cause to our little one’s irritability.  We will discuss this with Dr. R when we see him in clinic.

Friday morning we were up bright and early again eager to attend the sessions on Clinical Trials in Mitochondrial Disease, Latest concepts in Mitochondrial Disease, and Palliative care, GI Issues and Dysmotility, Providing Nutritional Support, and Fundraising to Support the UMDF Mission.

There was a lot of discussion about clinical trials and the importance of participating in a clinical trial to help with the advancement of treatments for mitochondrial disease.  Currently there are NO FDA approved treatments for mitochondrial disease.  Clinical trials are the ONLY way for obtaining FDA approval.  FDA approval would mean that there would be a standard of care for mito patients, which in turn could lead to better insurance coverage for treatments.   They discussed three clinical trials currently taking place; one which is looking at the effectiveness of  CoQ10 as a treatment for mito patients, and the other two are specific for patients with MELAS.  We are looking at participating in the Phase III CoQ10 trials.

Genetics is a very confusing topic in mitochondrial disease and was a big part of the discussion on The Latest Concepts in Mitochondrial Disease.  Mitochondrial genetics are  inherited in one of two ways.  One is from your mitochondrial DNA which only comes from the mother.   The other way is from your nuclear DNA which are inherited autosomal recessively, meaning from both the mom and the dad.  This is the most common inheritance pattern.  There is genetic testing available for both mitochondrial and nuclear genetics.  However, there are limitations to how many known defects doctors can actually say for sure are mitochondrial disease related.  There are 16,569 mitochondrial DNA variants, but doctors know of less than 90 that are mitochondrial disease specific.  For nuclear DNA there are over 3 billion variants in the human genome.   Genetic testing which looks at the entire human genome will make it possible to compare the genetics of a patient with mitochondrial disease to a standard sample with no mitochondrial(nuclear or mitochondrial DNA) abnormalities,  thus making it possible to pin point where in ones DNA a mutation lies.  Scientists are very close to having this become available clinically, perhaps in the next four to five years.  Cost wise this type of testing is expensive; however, when you compare it to all of the tests currently used for diagnosing mitochondrial disorders it is comparable.  A researcher at St. Christopher’s Hospital for Children in Philadelphia is using buccal swabs( buccal epithelial cells from saliva from the cheek) and testing the saliva for mutations that are linked to mitochondrial disease with results that correlate with muscle biopsy results.  From what I understand, this type of testing can indicate a possible complex I or IV defect.  Treatments for mitochondrial disease are symptom related not usually mutation specific, but knowing where your genetic defect lies can be important on many levels.  Still, the “gold standard” for diagnosing mitochondrial disease is a muscle biopsy.  

We attended the seminar on Palliative Care and the director of Palliative Care from Akron Children’s Hospital Dr. Sara Friebert presented this topic.  She defined palliative care as “seeking to prevent or relieve the symptoms produced by a complex, chronic and/or life threatening medical condition or its treatment.  It  helps children with such conditions and their families live as normally as possible by addressing physical/medical, emotional/psychological, social practical, spiritual, cognitive/developmental, and educational/vocational domains of suffering. And provides them with timely and accurate information and support in decision making.”  Palliative care is not hospice care, but can include hospice care.  She specifically discussed palliative care and mitochondrial disease and made so many poignant points that I know we were wondering how we could benefit from it.  Afterwards, I learned that DuPont Children’s Hospital is going to be implementing a palliative care program sometime in the very near future. 

The topic on GI issues and dysmotility was one of the seminars I was most interested in since our little one struggles so much with this.  A geneticist from Children's Hospital of Los Angeles Dr. Richard Boles was asked to speak on the subject since every year that he has attended the conference he has mentioned the need to address GI issues.  He spoke broadly on the types of GI issues many mito patients suffer with: dysmotility, abdominal pain, and growth retardation.  He highlighted that there are few to no studies done on these issues, and that is not acceptable!  We need to advocate for more research on the subject!   There are varying degrees of GI issues and symptoms of those issues in mito patients that it was difficult to relate specifically to the information that he was giving. As a result he had several case studies which described patients with varying symptoms.  I think the subject of GI dysmotility could be an entire conference on its own!  I left the seminar feeling more concerned about our little one, mostly because she seemed to be the abnormal or the extreme in his descriptions of  the issues.  I did however meet several families who could relate to many of the same GI issues we are dealing with on a daily basis.  Even more valuable than hearing the experts discuss the issues, is hearing how real people are dealing with these issues!

The topic of nutritional support for mito patients was nothing I haven’t heard before.  Getting Lucy to grow has been the focus of our life for the past two plus years!  What I took away from the information was due to the varying degrees of GI dysmotility there are varying degrees to which mito patients are getting their nutritional needs met either orally, by g-tube,  or IV nutrition or a combination of these.  Again the subject material was informative but broad.

The Fundraising  to Support the UMDF seminar was positive .  Overall, the impression I received from the UMDF was one of hope and optimism that with our efforts we will be one step closer to finding a cure.  The UMDF has staff and information to help support anyone in their efforts to raise funds, and they are very willing to help you!  The Energy for Life Walkathon is being branded as THE WALK for mitochondrial disease.  The company that helped to make several of the top ten walks in the county so successful has donated their expertise to the UMDF to help our walk become universal and nationally recognized.  You can count on hearing more about the DelVal Energy for Life Walkathon in my future posts!

Saturday we attended the seminars on Exercise, Behavior Management, Screening, Evaluation, and Treatment of Mitochondrial Disorders, Hot Topics in Mitochondrial disease, and the Closing of the Family Program.

The seminar on Exercise by a Dr. Tarnopolsky  was very informative.  He had compelling evidence of the benefits of exercise for all people, but in particular patients with mitochondrial disease.   Lab mice with a know mitochondrial defect demonstrated that with endurance exercise at least three times a week for thirty minutes a day they were healthier, and lived longer than those mice with the same mitochondrial defect who were not exercised.  His recommendations were to exercise to your abilities and gradually increase the intensity and duration.  Patients with mitochondrial disease need to take extra time(10 minutes)  between sets in resistance exercise to avoid oxidative stress to the muscle tissue.  Exercise helps the mitochondria regenerate and fill in for the damaged mitochondria.  Dr. Tarnopolsky encouraged the website to read more about reputable published studies in the scientific community.  I found many articles published by him, but could not specifically find the lab mice study he described. 

The discussion on behavior management was broad reaching and informative.  It drove home the point that communicating  information with others about your child and their disease is essential in setting and achieving goals for behavior management.  Mitochondrial disease is often an invisible disease and is difficult for others to “see” the issues your child is experiencing.  What I really wanted was to take the speaker back home with us and have her explain to our daughters team the issues that having mitochondrial disease presents.   She was persuasive, but unfortunately from California not Pennsylvania.

  Hot Topics in Mitochondrial Disease focused on the idea of virtual medicine.  There are several clinicians/clinics in the country who will do second opinions and follow up appointments via the internet, Cleveland Clinic and Dr K. in Atlanta being a few mentioned.  Another big topic discussed was the Mayo Clinic Mitochondrial Disease Biobank.  The UMDF supports and encourages it’s members to consider contributing blood and tissue samples to the Biobank to assist in the research of mitochondrial diseases. 

In closing the UMDF has initiated a bill in the house (HR. 3502) and senate (S. 2858 “The Brittany Wilkinson Mitochondrial Disease Research and Treatment Enhancement Act”) that will establish an office of mitochondrial medicine with in the National Institutes of Health.  The bills will allow researchers to coordinate and share research pertaining to the mitochondria.  There is a HUGE need for more senators and congress people to support the two bills by the end of August!  The UMDF is encouraging everyone to go through their action center (so that they can tract the number of requests) and send your senator and congress person a letter to support the bills.  If we do not have enough support it will be two more years before we will have the opportunity again.  Two years that we can not afford to waste!

I wrote ALL of this so that I could share with many of you mito families out there that read our blog.  I wish all mito families could have the opportunity to attend the Symposium; so much information in one place and  at one time!   It was amazing to meet other mito families and connect with them on a personal level, as well as meet with many of the top docs in the mito world!  There was a lot of hope and optimism.  We are proud to be a part of the UMDF and look forward to doing our part towards finding a cure.