MITOCHONDRIALUNITED MITOCHONDRIAL DISEASE FOUNDATION NEWS A “Probable” Diagnosis and symptoms and fi t them together to make the CONTENTS most accurate picture possible. If mitochondrial Anne Juhlmann, RN and Mito Mom disease is the suspicion then the puzzle pieces, when put together, should look like a “picture” of Ask The Mito DocSM The following is adapted from Anne Juhlmann’s mitochondrial disease even if some pieces are 3 response to a frustrated parent whose child missing. The puzzle pieces are test results such as was diagnosed with a “probable” mitochondrial muscle biopsy, spinal tap, blood work, imaging (like Chapter Activities disease. Specifi c details have been changed for MRI), as well as signs and symptoms, etc. Depending 4 privacy reasons and to broaden its impact. on the test results and the signs and symptoms, more or fewer pieces will be added to the mitochondrial Fundraising Highlights First of all, I want to be clear that I am not speaking disease puzzle. 5-7 as a physician, but I can speak to how I understand Sometimes you can’t fi gure out if a puzzle piece the choice of the word “probable.” My understanding fi ts or not so you put it off to the side. But later, after Advocacy is that the physician feels it is very important not to you’ve connected a few more pieces, suddenly you 8 label something as X if we don’t know for certain it can see exactly where that piece fi ts. Using the word is X. This is not just a scientifi c exercise, although I “probable” is similar. It basically says that right now Adult Corner know some perceive it as such. it looks like the puzzle pieces, when put together, are 9 Remember that making a diagnosis of forming a picture of mitochondrial disease. It also mitochondrial disease is an integrative process. That recognizes that some pieces are missing or do not Announcements means there is not one test that makes the diagnosis. fi t. Sometimes a negative test result is the reason. 12 If a child has hemophilia B we can do blood tests Sometimes it is just because that information has not that defi nitely tell us the child has hemophilia B. But been obtained. (For example, my son could not have with mitochondrial disease, an MRI so his doctor did not dozens of things need to “I RECEIVED A ‘PROBABLE’ MITOCHONDRIAL have that piece of the be examined in order to DISEASE DIAGNOSIS. puzzle.) Usually by the get a good picture of what WHAT DOES THAT MEAN? WHY IS IT time the physician writes may be going on with the ‘PROBABLE’?” the fi nal report, the patient. reason for missing puzzle The way I think about it is that diagnosing these pieces is simply that we don’t have the scientifi c diseases is like putting together a puzzle. In fact I knowledge today to complete the puzzle. use puzzle pieces to teach this when I give hospital We have a long way to go towards understanding in-service seminars. When you think of a puzzle, the this group of diseases. Having said that, when I look goal is to fi nd all the right pieces so that in the end at how far the fi eld of mitochondrial disease has there is a picture. As you connect the pieces, even come in the ten years since my kids were diagnosed before they are all in place you can say, “Oh, that it is absolutely dazzling. We will continue to learn looks like a picture of Donald Duck.” Likewise, the more at an accelerated rate so that the puzzle pieces goal with diagnosis is to look at all the test results you cannot fi nd today may be found tomorrow. And (continued on page 2) HOPE spelled out in LEGOs at the Mito Walk and Family Fun Day held at the LEGO Campus in Enfi eld, CT on September 27, 2008. The event raised over $20,000! Volume 13 See pages 4-7 for Issue 4 more events and Winter 2008 fundraisers! www.umdf.org | 8085 Saltsburg Road, Suite 201 | Pittsburgh, PA 15239 | P 888•317•UMDF (toll-free) | P 412•793•8077 | F 412•793•6477 | [email protected] FROM PAGE ONE they may or may not fi t into the mitochondrial can. Think of mitochondrial disease as the working disease picture. diagnosis. Today, it is the most accurate description If your child’s diagnosis is “probable,” then it of everything seen to date. Today, the best way to sounds as if right now the majority of the puzzle treat your child is to do what makes sense for that pieces are forming a mitochondrial disease picture. working diagnosis - which is to treat your child as if Therefore, mitochondrial disease is the best way he has a mitochondrial disease. to describe “the picture” that the puzzle pieces are If your child’s doctor did not feel that a making. But you can’t complete the puzzle today. mitochondrial disease diagnosis was the most National Office Staff You may some day. You may not. Using the word accurate clinical diagnosis on which to base decisions and treatment, he would not put those “probable” allows you to remember that there are Charles A. Mohan Jr., CEO/Executive Director some missing pieces. From my perspective, it words on the report. So don’t let someone tell you [email protected], ext. 111 gives hope because you never know what pieces that the word “probable” means your child does not Mark Campbell, Chief Financial Offi cer you may fi nd some day. Once located, the missing have a mitochondrial disease. It means no such [email protected], ext. 110 pieces may change the picture. For example, thing. In fact, you can be assured it is currently the you thought your puzzle was going to be Donald most accurate diagnosis because mitochondrial Kara Strittmatter, Director of Member Services Duck. It is - but Daisy Duck is in the picture too. disease specialists tend to put puzzles together [email protected], ext. 114 Figuratively speaking, this might mean your child more carefully than many doctors. They fi nd puzzle Clifford Gorski, Director of Communications has a mitochondrial disorder but it is secondary to pieces others don’t fi nd, look at the pieces closely, [email protected], ext. 101 some other problem you did not know about. Or, and can see where they fi t (or don’t fi t) when others Carol Rush, PhD, Director of Development the pieces may not fi t into the mitochondrial disease cannot. If the test results and clinical signs and [email protected] symptoms did not suggest mitochondrial disease, a puzzle that you have had all these years. They may Jodie Tabano, Special Events Manager start a new puzzle. (It’s not a picture of Donald Duck mitochondrial specialist would not put those pieces [email protected], ext. 106 at all. It’s Daffy Duck.) It may turn out that your child into the mitochondrial disease picture. does not have a mitochondrial disorder but some I know the word “probable” upsets many people, Scott Precopia, IT Manager [email protected], ext. 118 other metabolic problem we did not even know and I understand that. Most of the time, people about in 2008. arrive at a Barbara Podowski, Administrative Assistant Now the hope mitochondrial [email protected], ext. 100 is that as more disease Janet Owens, Executive Administrative Assistant is learned over specialist’s [email protected], ext. 107 time, physicians offi ce after long Tania Hanscom, Communications Assistant caring for the months or years [email protected], ext. 112 patient on a of hearing “we Bethany Neumeyer, Member Services Associate don’t know what day-to-day basis [email protected], ext. 104 will continue is wrong” or to evaluate “nothing could Melinda O’Toole, Member Services Associate the situation, possibly be [email protected], ext. 103 checking to see wrong.” Being Donna Nameth, Data Entry Manager if the new pieces undiagnosed [email protected], ext. 109 they have found Anne’s children - Sam, Brittany, Abby and Zach is a nightmare Jean Bassett, Research Grants Coordinator fi t into the picture. all its own - I’ve [email protected], ext. 105 The reality is that some doctors do not think this been there during my son’s fi rst six years - and I Ryan Fisher, Development Assistant way. They become set on a diagnosis they make for was deeply sensitized to how hard that uncertainty [email protected], ext. 116 an individual and then refuse to consider anything is to live with. Try to remember that a diagnosis Don Gielas, Grant Writer else even when evidence suggests otherwise. Using is nothing more than an explanation. Your child’s [email protected], ext. 113 the puzzle analogy, they try to jam a puzzle piece doctor gave you an explanation for what is wrong into the picture where it really does not fi t. Or, they – a mitochondrial disease diagnosis. For today, Kylie Dunmire, Special Events Associate refuse to look at a piece of the puzzle that should be that is your child’s diagnosis and you can use that [email protected], ext. 108 examined. This deprives a patient and their family of explanation to decide on treatments and approaches better understanding and can even harm the patient. to care. As physicians, nurses, parents, or patients “Probable” simply refl ects the limitations of our ourselves, we all have to keep an open mind and understanding. We just don’t know everything we UMDF MISSION not become so convicted and certain that we know need to know today.