Our Mission

Calliope Joy Carr, age 2, August 2012, on the family's Make -A-Wish vacation to The Winnetu Resort in Martha's Vineyard. Photo by Audrey Le Tesson.



With the passage of Pennsylvania's Hannah's Law and New Jersey's Emma's Law, doctors will be able to save the lives of 66 children born each year with globoid cell leukodystrophy, or Krabbe disease.

With your help, doctors have the ability not simply to cure the disease, but to

ensure these children never become ill. Finding children before they lose the ability to swallow, walk, smile, breathe, and feed themselves is critical for treatment since once symptoms develop there is no way to reverse the damage to the brain.

The Calliope Joy Foundation is helping our partners at The Children's Hospital of Philadelphia save children from this devastating disease and become a national leader in the care of the leukodystrophy family of pediatric, neurological diseases. In 10 years, hundreds of children will be in school and celebrating birthdays

because of what we made possible.

Help us give children their childhoods and

change the world with cupcakes.

#EatCake & #HelpKids









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    Monday, October 27, 2014

    Olive Carr


    I am breaking a rule and writing about Pat and his family, but, since I cannot be at the wake or the funeral, here are my Olive recollections. But, I hope I get a pass from the Carrs since I have just come to realize Pat was right and I was wrong.

    My mother-in-law, Pat's mother, died last night. Pat had rushed home to be with her when a recent doctor's visit had revealed total kidney failure. She had been unwell for months, there was a bout with a respiratory illness that had left her homebound earlier this year.

     Olive had always been a sort of charming hypochondriac, regularly updating a "how are you?" with a detailed list of aches and pains. And, Pat knew something was wrong when he would call lately and she would say she was fine and sort of trail off.

    His instincts were right, the doctors would confirm how gravely ill she was a few days ago. So the trip to Ireland that was planned for December got moved up to this week.  Pat hated leaving the children for Halloween, his birthday, and PJ's big basketball game, but, he had to go home. Pat wondered if he should pack his suit, the suit he had worn to his father's funeral. I nodded, hoping he would get Olive stabilized and be home in a few days. Neither of us  believed it. Kidney failure is something people don't bounce back from....I live with nurses and that's how my dad died, it was just like last year with Dad all over again..

    So Pat packed his bags and left. He told the children his mother was sick, but not that she was close to death. He couldn't tell them about my father-in-law or my father, the same would be true with Olive.

    Pat was a devoted son, and Olive was an Irish mother.  Pat was the prince and his crown came with burdens only sons of beautiful women demand.

    Olive was stunning, and even until the very end, she got her hair done. She stopped eating and walking but her stylist came each week. My favorite photo of her is in my house, she is holding a two year old Pat's hand in the garden of their house at Peter Street. She looked like one of those sixties starlets with her hair in a twist and wearing a shift dress. She was a young mother with two children, but, even with the hard times of Ireland in the 60s, she stood out, you could see why Paddy had fallen in love with her. Her face was perfectly symmetrical and her eyes smiled in spite of the lingering sadness, like so many women of her time, she carried the pain of the child she had lost (a little girl who died from spina bifida) but since it was unseemly to speak of such matters, she mentioned this child only once to me.

    In  another time , I don't know if she would been a housewife. I think her temperament was more of a career woman. She loved clothes and jewelry and was always drawn to just a touch of sparkle and flash. When she picked out PJ's christening gown, I had assumed a linen cotton outfit would arrive in the mail, much to my surprise, she had selected a satin unitard with a surprising amount of embroidery.

    My favorite Olive story is about the day Pat and I went to Drogheda to tell his parents we were getting married. Pat and I had a huge fight on the day we were set to fly out of Boston because I was wearing this loose, empire waist dress and Pat said I shouldn't wear it because the cut of the dress made me look like I might be in the early months of pregnancy.  I burst into tears and was not sure whether I was upset because he thought I looked pregnant or that he believed his parents might think Pat had to get married.  Then, my father, came in, upon hearing the argument, and sided with Pat saying "well, that dress does make you look pregnant."

     My mother kicked Dad out and  I did change the dress, I am sorry to say. I was too young to appreciate how much fun it would have been to get the rumors started in Drogheda. How the tongues would have wagged.

    But, anyway, we arrived in Ireland, I was so young I didn't really understand what a big deal this was, to go to another country  and meet a family and then announce an engagement. It was hardly surprising Pat, who fell in love with America as much as he did with me,  would follow the great migration of Ireland's young and educated to America and England.

    But, marrying me meant his life in States was not a youthful adventure that would come to an end after graduate school.

    So, Pat took me into the kitchen where his mother was doing her morning routine of peeling the potatoes for dinner. Back in the Ireland of the 1990s, Paddy and Olive ate potatoes everyday, the only reprieve might be a meal of smoked salmon and with sliced brown bread.  But otherwise, there was never rice or pasta, always spuds covered in butter or that dreadful margarine that we all pretended was healthy until the world learned the ugly truth about trans fats.

    And hand peeling spuds on a cold Irish morning and is an unpleasant task, and Olive did it in such a way that I nicknamed her food preparation style: rage cooking.  She would stand over the sink, her cigarette trailing ash  as she peeled dozens of potatoes. Her hands were stiff and bloodless from the water and the damp Irish air, even in June. And, Olive was not a big eater, so all this food was for everyone else.  If the Greeks and West Indians view food as a stand-in for love and a source of their matriarchal authority in a family, for the Irish, especially Irish woman of my mother-in-law's generation, it was a symbol of the burden of a world that gave women more obligations than opportunity.

    So, Olive, stood over the kitchen sink peeling potatoes and Pat took a deep breathe and said, "I have something to tell you....[pause for effect and  to give himself the energy to get the words out]...Maria and I are getting married." 

    Looking back, I was too clueless to understand what these words meant....why Pat was so anxious. And what happened next counts as my favorite Olive story.

    In my house, as the oldest daughter who had not dated and who had seemed on track for a fulfilling single life as a college professor without kids  (minus the cats since I hate cats), the news of my engagement was met with unabashed relief from my father who loved Wellesley College but worried how this expensive education might have made his eldest daughter unmarriageable.

    Keep in mind, my sisters were engaged at age 20, and I was 25 when Pat and I met.

    But anyway, when Olive heard the news, she swooned and collapsed in a chair.  Somehow, and maybe this is my memory playing tricks on me, but the cigarette stayed dangling all the way through the move from the sink to the kitchen table across the room, even as one arm grabbed a chair and another arm fell across her chest.   Olive managed to pull it off with a grace and style that made me think she had used this choreography before.

    The message was loud and clear:  Pat marrying me was going to kill her.

     Olive had the heart and soul of an performer, or at least, one of those beautiful women who could make things happen just the way she wanted without ever saying a word. It was a power I admired and dreaded.

    Like I said, it was easy to forgive this since none of it was personal, Pat's previous girlfriends made it easy for my in-laws to appreciate me. The bar had been rather low.

    There were moments Olive would express her displeasure with minor things, but no huge blow-outs. Olive was more subtle, I understood that she needed her son and on what came to be known as "The Paddy and Olive tours of America" when they would visit us, I let her have her son back. Pat would fuss about his parents, make sure they had their cigarettes and an evening at a nice pub. I thought it was very Irish for Irish tourists to visit America and recreate Ireland somewhere else, and it was easy to do this in Philadelphia and Chicago.

    When Camille was born, and then PJ, and both children loved Ireland and their grandparents so very much, Olive was overjoyed. I might have been the American interloper, but my children,  her grandchildren, were beautiful and tied to Ireland and the family. She had won them over with magical Ireland and crisps and all the Cadbury chocolates she hid in her pantry. Olive  had fallen in love with the chubby Carr babies the moment they showed up at the house, they might live in America, but they fit in just fine in Drogheda. Cal was the only one not to make the trip to Ireland and stand on the beach where Pat had spent so much time as a boy. I often wonder if failing to bring Callie to Ireland meant she was not protected by the 500 years of the Carrs in Drogheda.  Did I mention Pat was the first Carr to leave Drogheda?

    All was well until Pat got the chance to go back to Dublin to be the Chair of the Sociology Department at the University College Dublin. The job would bring Pat home and provide Olive with endless bragging rights about her brilliant son and the impressive post. But, as a dual career couple, moving to Ireland was good for Pat but it was professional suicide for me. Pat had a great job at Rutgers, and the job at Dublin was a step down for me, I would be a trailing spouse with no job security.  Ireland was expensive and we struggled to find a school for the kids. The only thing good things about  Ireland was the stuff that would happen for Pat and his career, for the rest of the family, it would mean painful readjustment and struggle. So, I pulled the plug and made  the call not to move.

    In the long run, this choice was right.  The Irish university system would go into a free-fall with the economic crises in Europe, Pat would have gotten a paycut and they would have terminated my contract. Without an EU passport, an American who writes books about America would have been unemployable.  But, more than that, the long waits and cutbacks in the medical system there meant that Pat's cancer probably would not have been treated as quickly, or as successfully as it was at Abramson.  It took months for the doctors to confirm my father-in-law's cancer, and if Pat had spent weeks waiting to see specialists, he might not have survived, or at the very least, he would have ended up on dialysis.

    Pat begged me not to tell Olive about the job in Dublin. But, I liked Olive too much to keep such a secret.  It had been a long time since the Marlene Dietrich scene in the kitchen, two grandchildren would purchase good will.

    Surely she would understand. But, for Olive, not going to Ireland was a betrayal.  I had broken our arrangement over how we shared Pat.  She never spoke of the matter, but she was more distant and Pat took to visiting Ireland with the children and without me for the years that followed.

    My first real and sustained anger with Olive came when Pat refused to tell her about his cancer, and then, Cal's diagnosis.

     It made no sense to me that he could hide such huge parts of his life from his mother. The first thing I had done was call my parents with Pat's diagnosis and then Cal's. I was not sure they could do anything to help, and my parents didn't exactly rush to the hospital, they could not face Cal's illness. Daddy and Mom came down to help me when Pat got sick, but for Cal, they stayed away. Dad's cancer had progressed, but, more than that, Daddy couldn't face Cal's disease and mom was trapped between her dying husband with cancer and a granddaughter with a terminal illness. In fact, Daddy never saw Cal after her diagnosis. It is something that haunted him in his death and  the only moment in my life where my Dad let me down. I can forgive and understand why it happened, but, God help him, he was not there.

    But, I thought it was unfair for Pat never to give his mother the chance to take care of him with his cancer and share the sadness of Cal. I still don't fully understand why he didn't tell his mother, but given how my father dealt with Cal's illness, I now wonder if I made the right decision.  Pat's willingness to shield his mother made things harder for him but safer for Olive. My point was that not that Olive would make things better, but that she had a right to know.

     But there will be a cost to paid for this decision he made three years ago. And  now I fear Pat's grief over his mother will be much rockier.  He cannot say goodbye with the knowledge that there was nothing left to unsaid between them.   My father disappointed me one time when he did not come to see Cal after she got sick.  But, then again, as my father was dying he had visions of Cal as an angel who was waiting to take him to the other side. The dreams he shared with me about Calliope were his reconciliation with me and him asking for our forgiveness.

    But, as Pat mourns the beautiful and complicated woman who was his mother, I try to console him with the fact that Olive  knew he was the most devoted son, a son who took care of her until the very end. Even if he could not say goodbye to her yesterday, the truth is now out.  The fact is Olive  finally understands all the pain and love Pat must carry  forever because he longed to protect her.  

    Olive was keenly aware of how pain and love were inextricably linked.

     I might be Pat's wife, but Olive was his mother, and me marrying him never diminished his love for her in the way she had always feared.

    So, yesterday, PJ cried and begged for me to take him to Ireland so he could tell his Granny how much he loved her. And in the lovely Camille, Olive has a beautiful young woman, who  understands the pain and suffering love requires...has just a perfect amount of the  complexity and drama from Olive that will live on. 

    And now that Olive is gone, and Pat protected her from the knowledge of his cancer and Cal's illness, it feels right to let her go without knowing the pain of it.  It was a kindness and gift I could not give my own father, and, it seems to me, Pat understood his mother better than I understood my father.  And, God help me, but Pat was right and I was wrong. I wish I could have saved my father from the anguish of it all. 










    Friday, October 24, 2014

    a letter to a friend

      Sometimes, in my desire to help and endure all this , I just find myself running and I don't give myself time to be sad. I am afraid to be sad and cry. People mistake my mania for amazingness, but, for me, doing something is a great way to avoid facing all of it.

     For me grief feels like being possessed, an out of body experience that makes me wonder if all of it is a dream. So, this conversation was quite helpful. On April 9th and 10th the Leukodystrophy Alliance will come to CHOP to evaluate what the medical teams can provide to the care of children with leukodystrophies....from palliative care, integrated care, and gene therapy perspectives.  In all the excitement over Hannah and Emma's Laws,  I think I needed to remember that these treatments are still only successful  rarely, and that most of the children will not improve and some will die faster because of complications from the procedure.

    I am somewhat ashamed of myself for getting swept up in the intoxicating belief in miracles. I should know better.

     Our little Foundation now sends families to Italy and we send care packages to families when families lose a child or are having a tough time.   There is so much need, and it felt good to run away with Amy Waldman's enthusiasm because of newborn screening.  It is astounding to consider some children might be saved after decades of no hope or no options. But, it will take years before the new gene therapy treatments in Leukodystophies become available in the US and many children will die between now and then. I think the thing that has thrown me off kilter is to see the children Milan has helped. No one is saying they are cured, but, when I look at what Leukodystrophy has done to Cal and I see children who can open birthday presents and go to school, it is not a sense of guilt, but a belief that Cal's life has to mean something that consumes me. I want to believe I am supposed to do something to harness Cal's suffering and accomplish something. It is the only thing that makes me not check into a hospital and check out completely. I hear stories of the mothers who just go to bed and cry and give up, and I am frightened for them but then I wonder if I have ever given myself a chance to really feel what is happening. Maybe I have chosen the wrong path.  Maybe going to bed and crying all day is healthier, or more realistic, than  this superhuman mom trying to change the world path.

    So, anyway, the great news is that Cal is much better, though, we can't get her up to the number of feedings she had before the tube fell out.  But, her energy is good and she is doing better than she was at the Challenge. I fell down on Tuesday in an effort to start walking to work to get some exercise in and I tripped on some uneven pavement and because of the way I fell, tore a ligament.  Being at home all week keeps me alone with my thoughts a bit too much. Then, we just got word that my mother-in-law is in kidney failure and she is not expected to live very much longer. So, Pat is heading off to Ireland, missing and 
    his three month follow up Abramson for his multiple myeloma, and helping his mom after spending all week bathing and caring for Cal on his own since I can't hold Cal with my ankle all messed up from my unsuccessful attempts at exercising.

    It's been another crappy sort of week, and maybe I have no business planning fundraisers with Hunter's Hope, but, between holding Cal and crying and worrying about Pat's check ups and making sure my older children are as okay as they can be....a fundraiser with one of the greatest football players of the last three decades who wants to help kids like Cal ain't a bad way to get through the day.  Or, that's what I keep telling myself. 


    Epilogue: So here I am, freaking out, trying to figure out what the right thing to do is. And then, Vicki posts her speech in Harrisburg the day they signed Hannah's Law. Hope is not rationale, it is reckless and dangerous, but, this is all we have. And the alternative makes life unbearable...

    This is Hannah's mom, Vicki.....

    Saturday, October 18, 2014

    how am I doing

    I





    I ran into someone whom I had not seen for a very long time,  at least a decade, she was horrified at my weight gain and physical appearance.  People do this double take sometimes when they see me and when I look at photos from today and a few years ago, I don't blame them. No one ever says, "how well you look." Not even in that cursory way people do in response when you compliment them on their appearance.  Even Pat, the guy on chemo gets told he looks good far more often than I do.  But this old family friend,  all she could say was I looked like my Dad, (and God help me, all I could think was, "You mean the 70 year old Greek man with cancer and no neck. That's not good.)  

    The woman, like everyone else who hears our tragedy, wanted to know how I was doing, she had not seen a blog post in a long time. Some women do tragedy with beauty and stoic grace: think Jackie Kennedy. Though, some people manage this facade with pharmaceuticals (think Jackie), I am more into the blubbery crying and Oreos. Even Jackie married a rich and over the top Greek because she could only do that serene sadness for so long. Though, after three years, I do find it's much harder to cry.  There are only a few things left that can push me to tears, and I have them carefully cataloged in my brain and my heart and you can probably guess what they are so there is no need to list them out here.

     To be sure, I have never been one of those women who was going to burn off my stress on a jog like they do in the movies when a bag of peanut M and Ms was at hand. It's hard to look good when you haven't had a good night's sleep in three years and I don't believe I will ever be happy or content in the way I once was when I had three healthy children and a healthy husband. It's been three years since my life was normal and comfortable and secure enough to be taken for granted. I look like hell because even if I am doing great, this is hell and I look like how I feel, even if my actions suggest to neighbors and friends I am just fine if not goddamn amazing. To be sure, the reason for less blogging was that I felt like I was starting to repeat myself, it's two years in, and in the world of leukodystrophy I am like a senior statesman: I have published three articles, including a piece for a palliative care journal, what else do I have to say?  But, here's my most succinct response to what has been on my mind of late.

    The photo on top is Callie from the Cupcake Challenge and the other photo is of a child with Cal's disease.  They are the same age and the only difference between them is that the boy received a gene therapy treatment only available in Europe. There is no newborn screening for MLD so the only way the doctors knew to look for MLD was because the boy's older sister had MLD, the MLD took this other child last year. But this little boy is a miracle, he has no symptoms of the disease, and there have been no dangerous side-effects. Even if this is not a cure, the treatment is a success. But there are  some experts want more time to consider what this treatment is. There is still some skepticism and a good deal of professional territoriality.

    You might be surprised how much I ponder this photograph of another child. This is no longer about just Cal, there are so many children now I know about and mourn. But I treasure these photos of this boy because, while I force myself never to dream of what was or what might have been for my daughter, I do get to enjoy what is possible for this child. I never resent this family or this child for any of it. I never would never want this mother to go through more than she has already endured.  Let me be quite clear here.  More and more, My anger  is reserved for medical bureaucracies and professional egos that keep miracles from getting to all children.  I have a Ph. D. and know US Senators and university presidents, and yet, no one has explained to me with any satisfaction why people must travel to Milan to get a treatment that would save a child from what my daughter has endured. I have no idea why we don't have millions of dollars raised to bring this breakthrough to the best children's hospital in the US. I am not sure why a bunch of mothers and grandmothers, not a doctor among us, must scream so loud to get people's attention.  I don't understand why the people who are are overreacting to Ebola won't help us change the future for these children in way that a peer reviewed journal in Science proved to be effective. I wish people who keep dumping buckets of water on their head would write letters to the FDA. I want to know why 60 Minutes and a documentary film crew have not showed up at my door demanding to tell this story.  I am not sad or amazing today, I am furious and determined….and so angry. So, today, that's how I am doing, holding Cal all snuggled up next to me and staring at a photo of the little boy who has the chance Cal never did.   




    Friday, October 10, 2014

    A letter from Kipper's creator


    This beautiful letter from the author and illustrator Mick Inkpen, the creator of Kipper, arrives.  I wrote to him about how much Cal's love of Kipper has fought off MLD  better than any medicine. Her enjoyment of Kipper is one of the only pleasures of childhood that remain. With Kipper, the Cal before MLD returns to us.


    Thursday, October 2, 2014

    Recovery

    When I run into people they ask me the same question, they want to know if I have "recovered" from the Cupcake Challenge.  Not at all.  The Cupcake Challenge was only just recently cleared out of my living room. And, over dinner the kids offer suggestions about what we can do better next year.  To celebrate the end of our most successful event, I went out and purchased a new moleskin notebook since after two years, the other one is running out of room. 

    Pat and I are behind in grading and letter-writing for tenure folders and evaluations because of all that had to be done in the first few months of classes.  It's hard for me to concentrate on Marx and Durkheim when my mind has been so preoccupied with cupcakes for nearly a year.

    But, the other thing is that extraordinary things have happened in the wake of the cupcakes.  You see, CHOP has organized several meetings to build a center of excellence for the care and treatment of leukodystrophy. Spark Therapeutics and CHOP now want to be the first American team to treat leukodystrophy with amazing new gene therapies that have proven to be miraculous in terms of eliminating all the symptoms of the disease.  There are children with Cal's disease, who were diagnosed when Cal was, who are walking, talking, attending school, and showing no deficits at all. The cupcakes have made CHOP shift course and become part of this cutting-edge work. 

    And so, Pat and I (with the help of Cal and the cupcakes) get to bring together Jim and Jill Kelly, Hunter's Hope, researchers in Italy, families who have been treated in Italy with CHOP and the neurology division, the mothers, grandmothers, and aunts behind New Jersey's Emma's Law and Pennsylvania's Hannah's Law. Our kickstarter grant has done just that, made things happen in conjunction with the newborn screening laws which will mean that children in New Jersey and Pennsylvania will be screened for one of the most common forms of leukodystrophy: Krabbe Disease.

    We estimate 33 to 66 children will be diagnosed  annually with Krabbe, and because of what Callie has inspired, and so many people have done, CHOP will be ready with state of the art treatment and care and research.

    Then it occurred to me that that in the next few years means we could host a cupcake challenge with more than 100 children who get to have a childhood because what we are a part of through selling cupcakes.

    How can I go back to normal when I can now dream of a Cupcake Challenge with all the children the doctors and all the extraordinary people  and children who have suffered so much?

    On July 5th, 2012, Dr. Waldman had to tell us the worst thing a parent will ever hear and the worst thing a doctor has to say.  Now, just two years later, Dr. Waldman will be able to offer hope to families that would have been impossible two years ago. "The whole world has changed." And because of Callie, we will do more than cure this disease, we will prevent children from becoming sick.  Imagine not simply curing cancer, but never letting it happen. That's what my Cal and the cupcakes have done.

    And when Cal was diagnosed, I promised Dr. Waldman that all I wanted to do was live long enough to see the children she could save from Cal's fate.  To be honest, I didn't know if I would live long enough to see them have a meaningful treatment for leukodystrophy.   I never thought I would get to meet the children the doctors had saved.  And here we are, just two years later, seeing that wish come true. At the cupcake challenge, I met two children the doctors have saved. I spoke to a little girl who smiles and walks and talks even though she has Cal's disease. 


    Our Cal will do just what those marketing campaigns for CHOP have long promised, giving hope, giving children childhoods, and making miracles happen. 

    How wrong I was, and how incredible it feels to have been so very, very wrong.

    Saturday, September 27, 2014

    CHOP's official statement on TCJF's first major gift

    On August 31, 2014, The Calliope Joy Foundation, named for 4-year-old Bala Cynwyd resident Calliope Carr, who was diagnosed in 2012 with late-infant onset metachromatic leukodystrophy (MLD), made a gift of $22,000 to The Children’s Hospital of Philadelphia. The funds are earmarked for the Division of Neurology, to build a center for the treatment and care of children with leukodystrophies. The leukodystrophies are a family of degenerative, progressive neurological diseases that destroy myelin, the fatty sheath that insulates the brain’s circuitry. Historically, children with late infant onset MLD did not live beyond the age of five, although many are surviving into the second decade of life with supportive medical care.

    The myelin sheath, the main component of white matter, is extremely complex. Myelin is the protective covering of the nerve axons and acts like insulation surrounding an electric wire. Myelin is made up of thousands of bio-chemicals, each of which affects the myelin sheath in some way. Various leukodystrophies are caused by a deficiency of one of these chemical substances. There are 43 known leukodystrophies, and researchers are continuing to identify more forms of the disease.

    The funds given by The Calliope Joy Foundation will help researchers re-evaluate patients with suspected cases of leukodystrophies and collect more data to better characterize the leukodystrophies that do not have a recognized genetic cause or enzyme deficiency.  Identifying the genetic causes of the disease is an important driver of research and patient care. “Right now, there are some leukodystrophies that don’t have a recognized cause,” explains Dr. Amy Waldman, a neurologist at CHOP. “Sometimes, we can’t give patients a name for their disease, which can be incredibly disheartening to families who are left without a clear treatment plan. This gift makes it possible for us to collaborate with other physicians from around the world to move the field forward. Once we identify the genetic cause or enzyme deficiency, then treatment strategies can be developed. To be able to give a name to a disease, tell families what to expect, and puzzle out the genetic code behind these disorders will allow for us to move towards cures for these individual diseases.”

    Translating cutting edge research into tools for doctors represents a fundamental first step in making CHOP a national leader in the care and treatment of leukodystrophies. The timing of this gift is critical now that New Jersey and Pennsylvania will join Missouri and New York in screening for one of the most common leukodystrophies: Krabbe disease. Finding presymptomatic infants is so important, says Waldman, since there are no current therapies to slow the progression of the disease once children begin to show symptoms. There is also no way to repair the disease’s damage to the brain. With Emma’s Law in New Jersey and Hannah’s Law in Pennsylvania, CHOP’s nationally renowned doctors expect to see more newborns with the disease. Their hope is to give those children — who
    would lose the ability to smile, talk, walk, and feed themselves —a chance to go to school. “This is an extraordinary time for research in leukodystrophies,” says Patrick Carr, Calliope’s father and the co-founder of The Calliope Joy Foundation. “We are so pleased to be a part of the first steps in creating a medical database, transforming research into treatment, and getting CHOP ready to save the lives of the children we will be finding through newborn screening.”

    Newborn screening of Krabbe disease and ALD (the disease Lorenzo Odone, the inspiration for the 1992 film "Lorenzo’s Oil," suffered from) have been championed by Buffalo Bills Hall of Fame Quarterback, Jim Kelly and his wife Jill Kelly. The Kellys’ only son, Hunter, died of Krabbe disease in 2005 and for the last decade, they have devoted their time and energy to make newborn screenings for Krabbe disease mandated in each state.

    By the spring of 2015, CHOP’s doctors will start seeing presymptomatic infants from New Jersey and Pennsylvania will follow soon afterward. And, in the words of Dr. Waldman, “We need to be ready.” Over the next several months, CHOP neurologists Drs. Brenda Banwell, Gihan Tennekoon, and Amy Waldman, as well as Hunter’s Hope and other stakeholders, will gather to form a plan of action to prepare for the presymptomatic children they will be treating. Given the resources, the team has a vision: to create a database of all the leukodystrophy cases, expand cord blood and bone marrow transplant programs for treatment at CHOP, monitor children, train post-doctoral fellows as specialists, and support families and patients as they face diagnosis. In New York, newborn screenings have given children who would not have survived beyond the age of 2 a chance to go to school and play and sing. New York’s Aidan’s Law has found 12 presymptomatic adrenoleukodystrophy newborns in seven months of screening.

    Calliope’s mother, Maria, says, “There is no doubt in my mind that CHOP has an integral role to play in the treatment and care of leukodystrophy patients, particularly with newborn screening laws in New Jersey and Pennsylvania. We are committed to making CHOP a global leader for leukodystrophy care and treatment, and giving hope to the children and families who come after Calliope. We want to share in these families’ miracles.”