Our Mission

The Calliope Joy Foundation's mission is to support families, research, and improve care to children affected by leukodystrophy (pronounced \ˌlü-kō-ˈdis-trə-fē\). There are more than 60 forms of the disease, leukodystrophies damage the brain's white matter causing once healthy children to lose the ability to swallow, eat, walk, talk, smile, and see. We started out selling cupcakes for $1 each in a school parking lot, today we fund Cal's Care Packages for children facing extended hospitalizations, travel grants for families seeking treatment with specialists far from home, Cal's Wishes Fund, research fellowships and, on May 15, 2015, we celebrated the launch of the first Leukodystrophy Center of Excellence in the United States housed at the world-renowned Children's Hospital of Philadelphia. Learn more about us by listening to our co-founder Maria Kefalas and pediatric neurologist Dr. Amy Waldman's recent interview for NPR. The CJF is a registered 501(c)(3) with tax id no. 90-1005140. No one draws a salary for their work on behalf of the CJF.

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    Friday, June 19, 2015

    When Celebrities Suddenly Care about Rare Disease


    I have followed, in awe, the tireless efforts of families that have rare genetic diseases to raise awareness and funds.
    Bake sales and bike races, balls and raffles, exhausting and all-consuming. But these efforts pale when a performer or other famous rich person suddenly and explosively steps up to support such a disease, solely because someone they know has just been diagnosed. As if dozens of families haven’t already been trying to fund clinical trials for years. Last summer’s “ice bucket challenge” was the epitome of the power of viral social media, with the message about ALS lost in the excitement.
    When celebrities suddenly care about rare diseases, I wonder what my friends in the rare disease community think. They’re happy, of course, at the attention, yet perhaps a bit unglued by the power of the famous – but maybe afraid to say so.
    That happened recently for Batten disease, a devastating group of brain disorders that strike in childhood. And one family isn’t afraid to speak out.
    A hippo, Laura, and Taylor
    A hippo, Laura, and Taylor

    Two years ago and one year ago, DNA Science heard from Laura King Edwards, who has been running races in all 50 states in honor of her 16-year-old sister Taylor, who has Batten disease. This week, DNA Science borrows the blog posts of Laura and her mother Sharon King, responding to last week’s avalanche of concern for the disease that is taking Taylor away. Laura blogs at Write the Happy Ending and Sharon at Taylor’s Tale.
    LAURA KING EDWARDS: #CureBatten Forever
    Celebrities like Mark Wahlberg, Jennifer Garner and Megan Fox are rallying to save the lives of two young girls diagnosed with a rare form of Batten disease. The girls, Charlotte and Gwenyth Gray, are the daughters of Hollywood producer Gordon Gray. Gray is known for movies like “The Rookie,” “Miracle” and “Million Dollar Arm.”
    Now he’s trying to raise $10 million to save his kids.
    Batten disease has never been so squarely in the public eye. The Grays have A-list connections, and those connections have helped land the family’s story on CNN Health, Cosmopolitan, Good Morning America, People, Time, The Today Show, US Weekly and many others.
    Did I mention all of that happened in 24 hours?
    Taylor King.
    Taylor King

    On July 24, my family will have been fighting Batten disease for nine long years. I’m proud of what Taylor’s Tale has accomplished in that time.
    We’ve been a top funder worldwide for infantile Batten disease research, and nearly every dollar has been donated by an individual touched by our story. We’ve effectively increased awareness of Batten disease within and outside Charlotte. We’ve become rare disease advocates and played an important role in rare disease legislation, including a new bill in North Carolina that we initiated and which passed unanimously in the N.C. House this spring.
    In those nine long years, Batten disease has stolen almost everything from my little sister. Everything, that is, but her courage.
    Like my mom, it is difficult for me to feel excited about the Grays’ story. I knew and loved Taylor when she was healthy, and so it’s easy for me to see my sister in the Grays’ video that shows the girls laughing and smiling and playing. I read all I needed to know about the symptoms of Batten disease online in the moments after my mother called to inform me of Taylor’s diagnosis. But those words never really sank in until they became our reality – until we were forced to live them.
    Laura and Taylor
    Laura and Taylor

    Every new diagnosis is a tragedy, regardless of how much awareness or money it brings. I hate this disease with every fiber in my body and I hate watching it shatter the worlds of new families, as it shattered ours.
    The Grays can’t do anything about the fact that Batten disease is in their genes. What they can do is FIGHT it. What they can do is believe. I admire them for doing exactly that.
    Charlotte and Gwenyth have an extremely rare form of Batten disease, CLN6, that affects fewer than 10 kids in the world. It is a variant form of late infantile Batten disease (CLN stands for “neuronal ceroid lipofuscinosis.”) Batten as a whole affects thousands. The diseases are genetically distinct. Infantile Batten disease – Taylor’s form – is CLN1.
    While the efforts of the Charlotte and Gwenyth Gray Foundation to cure CLN6 will certainly help all of us indirectly, we still need to find treatments for ALL forms of Batten disease and save thousands of children worldwide – the children of today and the future Charlottes, Gwenyths and Taylors.
    If the Grays raise their $10 million, it won’t save the rest of us. Even if things are learned that can move the science forward for other forms, it won’t pay for that work. What they may do is prove that answers are possible, if funding exists.
    My challenge to you, if you’ve been touched by Taylor’s story or the story of Charlotte and Gwenyth Gray, is to stick with the Batten community. Regardless of how long celebrities continue to tweet photos and pleas for $1 donations, we’ll need you for the road ahead, and the science still has to work.
    My heart goes out to the Grays and their girls. I’ll be pulling for them!
    A question mark popped up in my inbox this morning, a friend wondering why neither Taylor’s Tale nor a member of Taylor’s family had responded to the recent release of a website and video from the family of Charlotte and Gwenyth Gray, two young sisters recently diagnosed with CLN6, a form of Batten Disease. The story flooded my Facebook feed yesterday.
    Here’s the easy answer: I’m still “processing it.”
    I cried watching the video. Change the faces, and it could be my family. The beautiful children, shock, fear…hope. It’s life repeating itself. It’s something that’s happened too many times since Taylor’s diagnosis.
    Taylor eating a brownieWhat makes the Gray family’s story different is that they have “connections” that can make a huge difference in raising awareness and the all-important funding to get to hope. We’ve been working for nine long years, spreading the word and providing whatever funding we could raise to propel research forward. I daresay the Grays will long surpass us in nine short days.
    How often have many of us in the Batten community thought, “If we could capture the media’s attention in a big way, we could move even more quickly to find treatments…and one day, a cure?” Now, one family’s high-profile celebrity connections have garnered valuable media attention.
    But there is no joy in having the Grays join our ranks. Their story has ignited awareness of Batten disease…but at what cost? I would rather the girls be healthy. As grateful as I am for what they and their friends are doing, my heart hurts because another family…more precious children…are battling the monster that is Batten disease. And that reality is not easy to process.
    Kudos to the Grays and the many other brave families we’ve met along the way for taking a stand – for their unwillingness to accept “no cure.” We took that stand the day Taylor was diagnosed with Batten disease, and we’ve never backed down. We still believe. Working together, we WILL win this fight.
    Staying power is important. As a community, how can we capture this momentum for the long haul, and for all of the kids suffering from the various forms of Batten disease? How can we make this story matter to the world tomorrow? The challenge now will be for the Charlotte and Gwenyth Gray Foundation, Taylor’s Tale, and ALL organizations fighting Batten disease and other rare disorders to:
    young Taylor• Capitalize on the awareness created by Charlotte and Gwenyth’s story
    • Transform new donors into repeat donors, advocates and storytellers for the cause
    • Support the work funded by the influx of new donations to ensure it translates into a treatment
    $10 million is an enormous amount of money, and the work will certainly inform progress in other forms of the disease. Therein lies our tagline, “A victory for one is a victory for all.”
    Ten million dollars won’t be enough, however, to reach clinical trials for all forms of Batten disease. Taylor’s Tale and other related groups will continue to need additional funding and your support to build a better future for children like the Grays’ girls, Taylor and so many others.
    (Taylor’s Tale is funding gene therapy research for infantile Batten disease at the Gene Therapy Center at the University of North Carolina. Thanks to Laura for sharing the family’s photos.)

    Wednesday, June 17, 2015

    The pool

    Pat and PJ with Cal (aka the mermaid) on Father's Day, 2015.

    Cal used to go the pool everyday but as the disease progressed, the drive in the car became unbearable.

     She could no longer sit in a car seat and the pool offered only momentary relief. Looking back, she was not eating enough then and was weak and the discomfort from the disease was not well managed by medications yet.

     It was astounding how quickly we became homebound and that the equipment we needed to get her out of the house stopped being effective as Cal lost neck and head control.  The head of the nursing service listed "going out" as one of our goals for hospice. I started to cry at the thought of how much Cal's illness at taken so quickly that now going to the store was something we needed to work toward.

    You never see these details in the movies where state-of-the-art wheelchairs magically appear without the hours in seating clinic or fighting with vendors and insurers on the phone that real-life equipment requires. The truth is wheelchairs need to be measured with care and precision  to work for children like Cal, and even with customizing, the equipment doesn't guarantee mobility since children may not want to sit in the chairs and resist using them. 

    One therapist told us to make Cal sit in the chair for longer periods of time each and "just work through" her crying and protests.  It made no sense to force Cal into the equipment if she wanted to be snuggled and be held.  It was not like Cal would ever really be able to manage her disability and live in the world of school, a job or her own life.  "Special needs" and "terminally ill" are very different things though well-meaning people would try to pretend they were interchangeable.

    I have seen families transport these children in homemade wagons. The truth is most families can't afford the sorts of wheelchairs people like Steven Hawking have. Even a used specially modified van will cost $20,000 . Once these children hit puberty, some families can't care for the kids anymore and, in the most dire (but not uncommon) situations they might move children into a nursing home and their parents will come to visit.  We are lucky Cal is still so tiny we can lift her up, but, one day, that may not be the case and then leaving the house will be impossible again.

    When Cal got her  G-tube  (a hole inserted in her stomach), the hospice nurses feared that submerging the stoma in water would put Cal at risk for infection.  So, we gave up the pool all last summer. No one ever said anything but no one was sure we would get to be in the water again. Cal is now in "overtime" with MLD given the age 5 life expectancy and the fact that one specialist at CHOP talked about these children living 3.5 years after disease presentation. In June it was three years since Cal got this diagnosis. Of course, as my late father was fond of saying: "the only thing you know about doctors and their predictions is how they will be wrong." The numbers have taught me to be very clear on my priorities and shown me how not to wast any opportunity for joy. The fact is that Cal is still here and the nurses said the G-tube was healed over enough to go in the water again. I would not waste another second.

    It has been a year since the mermaid had been at the pool, and when I asked permission from the manager to bring her back, he was tongue tied. He had thought Callie might have died but he had been afraid to ask. We had always been a sight going to the pool at the gym. Cal wrapped in  a towel, her long thin body being cradled in my or her nurse's arms the way fireman carry people in a rescue.  We would run from the car to the pool, pull off the towel, and just get her into the 90 degree water.
     This pool was the only one Cal could go because the salt water makes her float and the carefully regulated water mimicked the conditions at CHOP's therapy pool. 

    The gym pool is a place where older patients come to rehab, most of the people we see at the pool are coming back from knee or hip replacements, others are recovering from strokes or use the salt water to ease the aches and pains of MS.  Children would come to the pool, but only during the designated swim lesson times or during Mommy and me swim class. The former manager had allowed us into the pool when she heard how sick Cal was. Cal was non-verbal and could not thrash and make noise like healthy children so the rehab patients did not mind her presence. Many of the people who use the pool were grandparents and would ask about Cal and her disease. Back when Cal was first diagnosed, I didn't know how to explain leukodystrophy and answering these questions was a burden. 

    I would go to the pool and hold Cal and weep, pretending that no one noticed or thought my swollen eyes were from the salt in the pool. I would get angry at the parents who turned away and the healthy children who could learn to swim.

    So, on Friday, we were back at the pool. Many of the rehab patients were so happy to see Cal.  They were relieved that she had gotten through another hard winter and that she could have this time where she was clearly so contented. I was anxious Cal would not want to be in the water, I had been wrong to worry. Cal started laughing and lifting her legs when she realized where she was and as she entered the water she smiled and sighed with such pleasure that her nurse Peggy and I wept for joy.

    It was the sweetest welcome and all our friends came to talk and check on her. If people were alarmed by the disease progression they kept such fears to themselves. Or maybe, I am different with people, I have figured out how to be in the world. I am less angry and more grateful to be at the pool, wise enough to know that another summer with Cal is something to cherish. Even though Cal can't take swimming lessons, we get to be around other 5 1/2 year olds who do. It does not make me sad to be around the other children, my fury at MLD is not the only thing I feel these days. My grief is there it is just the most important thing.   Now, I know how to be happy with my mermaid in the water and that the joy of this is the only thing that matters. 

    In the pool, there is no past and no future, the water makes my heart slow down and all there is my Cal happy and in the water floating on her own. Cal still comes alive in the water and the magic of the mermaid endures.  In the water, there is nothing to fear because, in that moment, everything is as perfect as it can be. 

    This disease is not an orphan anymore, we have a home, we have hope.

    So many people have written to ask why there have been no blogs (the really crazy ones) in such a long time. The short answer is that I don't need to blog so much and my editor and agent remind me I should save something for the book about Cal. The truth is, I blog less because this is not about me so much.

    At the dinner, so many things changed, not just because we launched the Center. Don't get me wrong, that's been a game-changer. People in the rare disease community and  Liz Scott (of Alex's Lemonade Stand Foundation) have been impressed to hear about the commitment that CHOP has made. The cupcakes didn't raise the millions of dollars to launch the Center, what happened is that CHOP realized the time was right for the Center and the cupcakes and the fundraising connected the dots for the folks at CHOP. From newborn screening to gene therapy to the amazing families and children who have proven gene therapy has come of age because of the miraculous results in human trials: the time was right for this Center.  As one expert in gene therapy explained at the closed meeting for foundations announcing the LCE: "there are 9000 rare diseases and leukodystrophy is one we believe we can treat and cure."

    The cupcakes have inspired people and given us hope for helping our children.

    Gene therapy has changed everything, and it's hard to express my appreciation for the families who went to Italy and were a part of the first human trials.   In hindsight, it looks easy, but at the time, with was all unknowns and lots of media accounts of how gene therapy had not lived up to its potential and the first "successes"  in treating diseases causing leukemia to some of the first patients.  

    So much has changed so quickly. Cal was diagnosed three years ago, and I never imagined I would have met children with Cal's disease heading to first grade and kindergarten or that this rare disease would have a multi-million dollar center at the Children's Hospital of Philadelphia. 

    Just six months ago, far more experienced fundraisers and others in the business world expressed their cautious support for a gala.  Looking back, the plan was insane to have an event at The Rittenhouse with some vague plan to sell the tickets. Pat and I had many friends, but not that many who could purchase a $2000 table.  It was a gamble. Many galas struggle to break even much less make a major gift. And so, when Hall of Fame football players, politicians, reporters, and assorted movers and shakers come out  to support the event I don't think we fully realized the impact of what we had managed to pull off. 

    A few weeks ago, I confessed to Dr. Waldman that the gala had been a risky move, it could have bankrupted the foundation and made us look foolish and reckless. No wonder people were worried and hesitant to support us and write checks. And Dr. Waldman smiled, "Why are you worrying about how it could have failed now? It didn't fail, it was a huge success, now we have to get ready for what comes next."

    And lots of things have happened, we have been on the phone with people have been impressed by the Center and what the Foundation has managed to get done.  One of Board members observed, "People are not going to get involved with a charity, no matter how fine the cause if it is going to make them look bad. You have proven that you are a serious group of people capable of accomplishing great things. Now people will want to work with you." And so, some rather extraordinary conversations have happened. People return my calls and ask how they can work with us, there is none of the awkward silence and unanswered phone calls and letters from three years ago when Pat and I didn't know what we were doing.. 

    Plans are underway for the next gala, and the amazing people who pulled off this last event want to go bigger next time.  We think it is time to get a national media outlet to tell this extraordinary story.  The Center is already making an impact with appointments booked until the fall and plans to increase the number of clinics from once a month to twice a month and, most likely, once a week by next year.  The team in the LCE have been overwhelmed by the speed at which children are getting diagnosed and the improved care children get.

    And just last week, I got letters from a teacher of a newly diagnosed family asking for help, I received a note from a leukodystrophy family who wanted to tell the story of how the Center had been the most incredible experience for their child. Before, the family had felt like a ping pong ball, going from one office to another, and never moving forward.  With the Center, specialists came to them, listened to them, and helped make things better rather than just responding to a problem during a crisis.

    Families felt connected and supported and taken care of in a way that had not been possible before when one doctor was trying to care for a disease that requires all hands on deck. We provide bags and homemade pillowcases and food and coffee, all the things Pat and I know would have helped us when Cal first got sick.  

    This disease is not an orphan anymore, we have a home, we have hope. 

    Tuesday, June 9, 2015

    Advice for how to help a friend whose child has Leukodystrophy

    Photo of the meals provided by St. Luke's Greek Orthodox church parishioners when Cal was hospitalized in 2014.

    When a friend, family member or neighbor gets such terrible news about a child's diagnosis, we struggle with how to help. Many of us worry about intruding or saying the wrong thing. We want to help but don't know how.  The good news is that you can help and here are some tips for how to be helpful.
    1.  You are not intruding. When people get the worst news, they are not easy to be around and surely don't want to host a dinner party, but they don't want to be alone.  Just go to the hospital or their homes, and just be there. Get them to talk, ask questions, hold people's hands, let them cry and scream and yell. Text them and leave voice mail messages until you clog up the phone. Send cards. Get on a plane and help your friend or family member. Show up.
    2. You are not going to make anyone feel better. There is nothing you can say to make things better, it is horrible news and it can't be fixed. This family needs to know you are not running away and that you want to help.
    3. Don't tell people to call you if they need something. When your life is coming apart, it's hard to put together a list of things for people to do. Take the lead and drop off gift cards for the supermarket or a favorite restaurant. Bring their kids out to a movie and offer to do rides to basketball or piano lessons, hire a cleaning service or just walk into the house and do the laundry.
    4. It's not about you. In this crisis moment, it's not about you, it's about listening to the person in need.  There is a pecking order of sorrow. And in the scale of tragedies, finding out your kid has leukodystrophy ranks as the worst thing that can happen.
    5. Never say, "I don't know how you do this" or "you are so strong, only you could face this situation." This is not a compliment, it is just a reminder from someone who is not facing this how they are feeling grateful they are not you.  Say, "I love you," "I think of you guys all the time" or  "I am so proud to have you as my friend." 
    6. Host a fundraiser. There are so many costs for caring for a child with a serious illness from the time off from work to the expense of travelling to see specialists and staying in hotels. Host a bake sale, car wash, walk or put up a Go Fund Me account to support the family. Families will always need funds and they may be embarrassed or too exhausted to ask for help.
    7. If you want to be taken care of, stay away.  A friend who lost her only daughter to cancer warned me, "You will be amazed at who is great at tragedy and the people who aren't, and you find out who your true friends are."  I suppose most people reading this list want to be the finest sort of friends. So, if you are going to go to someone's house and cry and make this all about you and your feelings, then stay away. If you can be brave and listen and figure out what your friend or family members want or need, then get over to the hospital or their house right now. 
    8. You will be rewarded for courage.  I will never forget the extraordinary people who ran to our side to be with us at the hospital. I know it wasn't easy for them. At one point, my friends carried me across the room since I could not speak or walk.  But I know they are glad they were there, and others have apologized for "not being able to face it." This guilt haunts the people who turned away.   But, the people who were  there are blessed to know that they have grace and courage.   And, if anything happens, I will run to their side.  So many people have said to me how Cal has changed their lives and helped them be better people. It's true, these children will reveal the meaning of life if you let them. 

    Thursday, June 4, 2015

    Joe Biden- "I pray that one day sooner rather later, the memory of the one you have lost makes you smile before it makes you weep."

    Followers of this blog know about my obsession with Vice President Biden. When Cal got sick, I wrote him letters, wondering how he went on after losing his daughter and wife in a car accident. Though the circumstances were different, finding out Cal, Pat and my dad were sick within six months and facing the prospect of losing them in slow motion haunted me.  In 2012, I had been in six different hospitals for my dad, Cal, and Pat and  the next year I enrolled Dad and Cal in hospice....and all that time sleeping in hospitals made me face the normally hidden truth of human beings' profound vulnerability.

    Almost instinctively, I became a sociologist studying the patterns and cycles of  grief and loss.

     We all know the people who allow the void of grief to swallow them whole, the idea of being lost in grief frightened me as much as losing Cal, Dad and Pat.  So, I wrote to Joe Biden, I wanted to know how he could laugh and smile and go to work and have hope and look forward to anything ever again. Did he believe in God? How could could keep being a father to his boys when their mother and sister were gone? How could he celebrate Christmas when his wife and daughter had been killed while they were out buying a  tree? How could he drive a car and look at tractor trailers knowing the role all those things played in the end of the old life he had dreamed for himself? How often did he cry and visit their graves? How did he remember their birthdays?  In his dreams, were his wife and daughter alive?

    And, one of the things grief tricks you into thinking is that just when you have figured out how to tame it, which is the best thing any of us will ever do with it for the really big losses, like losing a child, you tell yourself you have maxed out on bad things happening to you.  It's like the world has given you your quota of sorrow and you are done.

    Of course, this is not true, but I tell myself a version of that all the time when I watch Pat head off to his check ups with his oncologist Dr. Hartner, "Pat is going to be okay, Pat has to be okay."

    So, it was so very distressing to hear that Joe Biden had lost his second child. This second child was a 46 year old man, with children of his own. To  Joe Biden, Beau was the child who could have died in a car accident but had survived only to be taken in his prime from something as God-awful as a brain tumor.

    Joe Biden is cursing God for making him endure this a second time.  Not all losses are the same and losing this child may feel like too much, but for it to happen twice makes this pain all the worse, there is nothing hypothetical about it, he knows how bad this will be.

    The only thing I know about Joe Biden, as I can hear his heart breaking even now as we are hundreds of miles apart and have never met, is Joe Biden knows how to live his life well and that he showed his son how to do the same thing.

     I know that Beau Biden accomplished so much and inspired such love and devotion in people because his father had taught him the transformative power of suffering. The fact that his son lived such a good life will be some some comfort.

    And Joe Biden also knows that his son has passed on this gift to his own daughters and his daughter-in-law who must now raise their children on her own.

    I also know that Joe Biden feels like he wants to die too for the pain of this loss is so massive that death may be the only thing to offer him relief. But I know Mr. Biden will look at his grandchildren, wife, son, daughters in law, brothers and sister and know he must go on. He understands  most people will believe he is being brave for his family, the truth is that the people he was supposed to protect and care for who will save him from grief's void.

     I hope Joe Biden continues to use his love of his son to help other families who have lost a child the way he has, the fight against cancer will have a mighty warrior in Joe Biden. But I have no doubt Joe Biden will honor his son in helping others, this is something I know Joe Biden has mastered.

    And I will offer Joe Biden the prayer  he gave to families of the fallen military... the prayer he offered to parents like himself...."I pray that one day sooner rather later, the memory of the one you have lost makes you smile before it makes you weep." (This is the link to Biden's moving speech to military families who have lost soldiers).

    Thursday, May 28, 2015

    What we have started

    Today was the first day doctors, nurses and therapists at  CHOP's  new Leukodystrophy Center of Excellence (LCE) saw patients, and because of everything we have been working towards for the last few years, Dr. Waldman insisted that Cal be among the first patients the Center's doctors see.

    We arrived promptly at 8 am, excited to learn what this new Center means for children and families.

    Our appointment was today but with the new Center, our visit had started days earlier with Erin, the Center's nurse practitioner, calling us at home.

     The hour long call on Tuesday was meant to eliminate the medical histories that require families to relive the details that are so very painful and exhausting to explain over and over again for typical doctors' appointments. For once, I would not have to spell out leukodystrophy over the phone.

    Erin also wanted to make sure that we were getting all the services we needed from hospice and Medicaid. Since launching the Center, Dr. Waldman's team had learned some families had "fallen through the cracks" and were not getting the medical supplies and support Medicaid provides to seriously ill children.

    Even Erin, who was new to the leukodystrophy world, was unaware of  the role of hospice in Cal's daily care since under Medicaid and the Affordable Care Act pediatric hospice (in Pennsylvania hospice provides everything from diapers to hospital beds and medicines at no cost. New research shows that people live longer under hospice since it is a program that provides home based care to patients not receiving active treatment for a life-limiting condition). Pennsylvania's coverage is so good that families had moved to get to get the services that nearby states don't provide.

      Erin was concerned to see how families spend hundreds of dollars a month on formula and other crucial supplies they didn't have to because they were afraid hospice would mean giving up on their child.  This is something the LCE will seek to address.  Erin believes the Pediatric Advanced Care Team (PACT) and hospice will likely be a part of all children's care plans until proven curative treatments become more widely available and given the great good such programs provide to improving the quality of life. I even suggested a way for Erin to  talk to the families about hospice, "think of hospice of the name of the program."

    When we arrived we were welcomed by Dr. Waldman who introduced us to the Center's  social worker, Sarah Stoney, genetics counselor, physical therapists, attending physicians from complex care, rehabilitation medicine, palliative care, and neurology. It was hard to keep track of all the new faces and names, everyone we met thanked us for helping make this program possible. How remarkable it was to see so many dedicated men and women who wanted to be around our children and learn more about this disease.

    Cal and all the other patients were presented with bright colored folders assembled by Sarah crammed with important phone numbers and other information. We even received a blanket handmade by one of the hospital's partner charities.  (Three years ago, when Cal was first diagnosed, a busy social worker in another department had handed us an empty folder which I never used and threw away because it was too overwhelming. How wonderful it was for Sarah to take this burden from moms and dads).

    Under the old system, you would run from office to office and doctors would try to answer questions while looking up notes on the computer. At the LCE, doctors came to Cal. No referrals, no making appointments for specialists...everything was done in one visit with doctors listening to us the parents and talking to one another.  When one doctor noticed something about Cal, he or she could bring in his or her colleagues and discuss what they both had observed that day in that moment.  There was a point when all the doctors gathered in a conference room to discuss the three leukodystrophy patients in clinic this morning on its first day of opening. It was a long day but in three hours we had compressed visits to the doctor that would have spanned over days, if not weeks, and Cal received the most comprehensive sort of care without the stress of repeated doctor's visit and the hassle of phone tag.

    Pat and I had come to CHOP over the years to see the best doctors and we had never really considered how the process could be streamlined and simplified to make things better for Cal and us and get the doctors working in such sync. It was a revelation.

    Dr. Waldman, who had clearly worked so hard to make this Center possible,  was so proud and generous in her praise saying that Cal's Foundation and the other families had made this possible.  She was rather gracious to give us so much credit since she was the one who had brought all these people together and built this center for children with this long-forgotten disease.

    Then, Pat and I spied another family.

    It was a young couple with a little boy, almost 2, just diagnosed with leukodystrophy.  The boy was there with two sets of grandparents.   The family had driven 2 hours from their home in northern PA to get this check up at CHOP.  The young parents were new to the leukodystrophy world, and I worried it was hard for them to see Cal given that she represented a frightening future.

    But, one of the grandfathers, a big burly man asked, "So do you like this hospital, and these doctors?"

     I grabbed Cal's hand and nodded,"I do."

     He explained that his grandson had leukodystrophy and they had only found out a few months ago. He didn't ask about Cal, I assumed he knew it was the same disease.

    His story was one I had heard before, the attending neurologist at the regional hospital near their home had dismissed the family's concerns and stonewalled his daughter.  The family had been told, "There is nothing wrong with this child" and a doctor told the fearful mom who kept returning to the hospital "to stop wasting my time."

    But, as the little boy got sicker and sicker, the family made the 2 hour trip to CHOP andthe doctors here, the man recalled, did not dismiss what the parents were observing. At CHOP, the "very smart" doctors performed the  MRI right away and solved the mystery in two days.

    The grandparents and parents were still processing the horror of the diagnosis, the man looked at the little boy and said, "he was doing everything and then it just stopped like a water faucet getting turned off. "

     "I was  a cop" he continued. "And I saw a lot of stuff, people who locked up their kids and made them use kitty litter, kids who are killing eachother over nothing. I wish we could take the children and some of the parents to this place to....they would think about the things they do...these boys wouldn't be killing eachother if they saw what it is like here."

    I remembered what Father Peter had told me almost three years ago about how if you have the courage to be around children like Cal they will teach you the meaning of life. This man had figured out this out too. I wanted to tell the story of Father Peter but then I realized that this man did not need me to tell him the truth.

    Even as the family struggled with how the little boy's disease had progressed and had taken his words and the ability to walk and crawl, the grandparents were so pleased to have help and answers and support.

    They were not alone anymore.

    Pat and I were overcome with how much things would be better for the children.

    Dr. Waldman believes that  the greatest gift of the LCE, even more than the money and the research and the streamlined treatment plans, is the realization for these families that they are not alone.  Dr. Waldman said people had called her and the staff to tell stories of how leukodystrophy had affected their lives and that they wanted to be a part of this new center.  One woman, whose son died of Krabbe disease decades ago, now wanted to help support the LCE.  Calls and emails like that had been  pouring in for weeks. Dr. Waldman said, beaming as she looked at Cal.

     "I don't even think we know quite yet what we have started." 

    Update: The response has been so overwhelming to the LCE that Dr. Waldman to increase the number of clinics offered each month very soon.  

    Monday, May 18, 2015

    Photos from Every Step Walk Philly and An Evening with Jim and Jill Kelly at The Rittenhouse

    Two years ago, when we started out, we were selling cupcakes for $1 each in a parking lot and we didn't have money to pay for a face painter at the first Challenge. Then, on Friday night, we got to stand in front of hundreds of people at the glittering Rittenhouse Hotel and share the news of a Leukodystrophy Center of Excellence at The Children's Hospital of Philadelphia. We introduced people to the amazing children who prove miracles are possible for this disease. Our supporters now include Thermo Fisher, Goodman Properties, Wawa, Wells Fargo, UTRS, Dreifuss Fireplaces, CBS Radio, Giant Supermarkets, The Vetri Foundation and The Philadelphia Eagles. Our guests for the evening included ESPN personalities and two NFL Hall of Famers.

     Thank you for everything our friends and partners have made possible. Thank you for being inspired by Cal and children like her.

    Jill, Erin, Camryn and Jim Kelly

    Our great volunteers Lisa Sonnenborn, Liz Scott, Mary-Ellen Schlaak, Jamie Amen and Gina Pinotti.

    Jim and Jill Kelly with members of the Vivian family.

    Jim Kelly clowning around with our junior volunteers Will Schlaak, Ella Fox, Hugh Shields and PJ Carr.
    Jill Kelly presents the Kelly Tough Inspiration Awards.

    We raised over $7000 with Jim Kelly giving guests the once-in-a-lifetime chance to catch a football.

    Ella Vivian with her mom Becky on left and friend.

    Recipients of the first Kelly Tough Inspriation Award, the Daniels Family.

    Co-founder of the Calliope Joy Foundation, Pat Carr, with Susan, Daniel and Daniel "Little D" Sullivan.

    ESPN's Sal Paolantonio kicking off the night as our master of ceremonies.

    Dr. Brenda Banwell and Dr. Amy Waldman announce the launch of the Leukodystrophy Center of Excellence.

    Eli and Ella Vivian, among the first children in the world to receive a gene therapy treatment for leukodystrophy, were among the night's very special guests and received autographed balls from the guest of honor, Jim Kelly.

    The Kellys leading the 600 walkers through Philadelphia's scenic Fairmount Park.
    Jim Kelly greets Zach, who has Krabbe disease leukodystrophy and received a cord blood transplant, at the Every Step Walk Philadelphia.