ISMRD

3rd International Conference for Glycoprotein Storage Diseases 2012
2012-07-28 08:00 - 2012-07-29 17:00 (America/New_York) | Charleston, SC, United States
ISMRD’s penguin family again migrated from around the world to attend the 3rd International conference for Glycoprotein Storage Diseases held in Charleston, South Carolina USA. The meeting was jointly hosted by ISMRD and the Greenwood Genetic Center (GGC).
Natural History clinics for 30 patients were also held at GGC’s Charleston office on July 27th and 30th.
We would not have been able to present this meeting without the very generous support of the National Institute of Neurological Disorders and Stroke, The Everylife Foundation, Mercy Medical Airlift, Zymenex, Rock4Dakatah, Genzyme and Ultragenyx.

Welcome Reception

The welcome reception was full of excitement as old friends gathered together and new friends met for the first time.
Saturday
The morning sessions were a combined Scientific/Family meeting with Richard Steet opening the meeting with a presentation on an Overview of Glycoproteinoses followed by Emil Kakkis who spoke about Effective treatments for rare diseases – How do we get there.
After lunch the meeting split in two with the families moving onto their program that looked at the pathway to treatments, understanding neurological symptoms and signs. There were topics looking at dental care, eye issues, exercise for individuals with disabilities and two families gave their experiences of Bone Marrow transplant and Dental care in ML II.
To see the full conference program and abstracts click here.
A Memorial Service was held in loving memory of all those who have lost their lives to one of these diseases. The service was followed by the balloon release. All eyes were glued to the sky until the very last balloon was out of sight. The presence of so many professionals, caregivers, friends, families and their children to honor those gone before us was amazing, a very touching end to the first day.

Life Time Achievement Award
Life time awards are not something that are given out lightly – rather they are recognition of the dedication we see in those that we regard as special because they have given their life and talents to trying to seek a cure for these rare and debilitating diseases.
ISMRD was very proud to present its very first Life Time Award to Dr Jules Leroy for his dedication to Mucolipidosis through-out his whole working life.
Jenny Noble New Zealand, Sylvia Webb Australia and Nila Coley USA all spoke of his dedication, his love and the time he so willingly gives to families over the years.
Dr Leroy being a very humble man thanked ISMRD for the award and dedicated the award to those that have challenged him through out his working life, and to the families who very generously allowed him to meet and spend time with their children.

Sunday
The family program for Sunday was full of interesting topics such as, managing seizures, feeding and nutrition issues for those affected with a genetic disorder.
There was an interesting presentation on Palliative care. The presentation talked about how pediatric palliative care has forged new frontiers by recognizing that early referral and extended care by an integrated palliative care team can enhance the quality of life for children and their families when a cure is not possible. It also looked at the burdens placed on those caring for the affected patient.
Another interesting topic was Transition from from Pediatrics to adult health services and transition into the community. This presentation talked about how important it was to build a team of health professionals and community support people around the affected person so that the transition is smooth and does not cause undue stress to the family and affected person.
Lucia Horowitz talked about psychological testing and went on to explain what it all means and the how this kind of testing is useful when making important life decisions.
The meeting closed at 11.30 with the families joining the scientific meeting for final discussions.
Mark Stark President of ISMRD presented ISMRD’s future plans for supporting research and Jackie James Board member talked about how important it was for ISMRD to have support from families to raise funds so that we can support research met our administrative costs and host conferences as examples of where ISMRD needs funding support.
The meeting closed with a shared lunch.

Scientific Conference
Report for the International conference for Glycoprotein Storage Diseases – Charleston, South Carolina, USA 28th-29th July 2012 by Dr Sara Cathey
The Third International Workshop on Glycoproteinoses was held July 28 and 29, 2012 at the Crowne Plaza Hotel in N. Charleston, South Carolina. Concurrent scientific and family sessions were held during this two day meeting co-hosted by the Greenwood Genetic Center and ISMRD, the International Advocate for Glycoprotein Storage Diseases. The primary goal of the scientific meeting was to bring together rare disease experts from various disciplines. This was accomplished, and the conference achieved an unprecedented level of scientific expertise focused on the glycoproteinoses. Dr. Richard Steet (Biochemistry and Molecular Biology, University of Georgia Complex Carbohydrate Research Center) set the bar for excellence, launching the conference with his presentation “Overview of glycoproteinoses, old and new questions – looking to contemporary research for answers”. Dr. Steet described the complex cellular and molecular pathogenesis of the glycoprotein disorders, challenging us to broaden our view of these diseases. We need to focus not only on intracellular lysosomal storage but also on critical secondary effects in the extracellular matrix arising from inflammatory cascades, oxidative stress, altered calcium homeostasis, and autophagy. Dr. Emil Kakkis (EveryLife Foundation for Rare Diseases) gave an eye-opening presentation about regulatory processes and the hurdles that must be overcome for rare disease therapies to reach the marketplace. Mark Haskins (Center for Comparative Medical Genetics, University of Pennsylvania School of Veterinary Medicine) presented the latest developments from his area of expertise, therapy for human genetic diseases in large animal models. These first three talks built the framework for many discussions, all with the ultimate goal of answering this question: How can we treat these diseases?
Pathogenesis of the glycoproteinoses and the implications for therapeutic interventions were further explored by eminent scientists. Stuart Kornfeld (Washington University School of Medicine) explored mannose 6-phosphate dependent trafficking from the molecular level of the critical phosphotransferase enzyme. Roberto Zoncu (Postdoctoral Fellow in the laboratory of David Sabatini, Whitehead Institute for Biomedical Research) discussed the lysosome as a key organelle for metabolism and presented his research of the mTOR complex 1 protein kinase, a master growth regulator activated by amino acid signals from within the lysosomal lumen. Peter Lobel (Center for Advanced Biotechnology and Medicine, Rutgers University) discussed lysosomal proteomics, explaining both the “disease to protein” and “protein to disease” approaches for disease discovery and development of protein-based therapeutics. William Sly (Endowed Chair in Biochemistry and Molecular Biology Saint Louis University) presented the topic of targeted therapeutic proteins. He discussed glutathione receptor targeted liposomes to deliver drug to the brain and maintain the neuroprotective function of the blood-brain-barrier. David Bedwell (University of Alabama at Birmingham) presented nonsense suppression therapy.
Jon Davids (Shriners Hospital for Sick Children, Sacramento) talked about the skeletal manifestations of the glycoproteinoses and set the stage for two talks exploring the bone disease of mucolipidosis II and III. From the patient bedside perspective, Jules Leroy (Former Professor and Chairman of Pediatrics Ghent University, Belgium) covered prenatal, early and late skeletal features of ML. From the laboratory bench perspective, Dr. Steet discussed the role of excess cathepsin K in cartilage defects in a zebrafish model of ML II.
Troy Lund (Pediatric Hematology, Oncology and BMT, University of Minnesota) presented a comprehensive overview of hematopoietic cell transplant in the glycoproteinoses. Rosanne Taylor and Jessica Fletcher presented the pathophysiology of fucosidosis and enzyme infusion therapy in canine fucosidosis. Dr. Taylor’s work on fucosidosis dogs led to the first bone marrow transplant for human fucosidosis. Alessandra d’Azzo, (St. Jude’s Children’s Research Hospital) presented the status of gene therapy for galactosialidosis and the post-doctoral fellow from her lab, Shai White-Gilbertson, discussed the role of neuraminidase 1 in lysosomal exocytosis and disease pathogenesis. Line Borgwardt (Copenhagen University Hospital, Denmark) presented the early results of European trials of enzyme replacement for alpha-mannosidosis. Miao He and Ali Pervaiz from Emory University discussed high resolution urinary oligosaccharide analysis by MALDI-TOF mass spectrometry and the use of this testing in the diagnosis of aspartylglucosaminuria in one of their patients. Tim Wood (Biochemical Genetics Laboratory at Greenwood Genetic Center) explored the very rare disorder known as Schindler disease and the unique properties of alpha-N-acetylgalactosaminidase (NAGA enzyme).
All presenters and attendees benefited from the thoughtful discussions and questions inspired by the conference. Prior to closure of the conference, the timing of the next International Workshop on Glycoproteinoses was discussed with the entire group. The expectation is that a similar meeting will be useful and necessary within three years.
Third International Workshop on Glycoproteinoses Speaker List
David Bedwell, Ph.D. – University of Alabama at Birmingham, Birmingham, Alabama
Line Borgwardt, M.D. – Copenhagen University Hospital, Denmark
Nila Coley – Cedartown, Georgia
Alessandra d’Azzo, Ph.D. – St. Jude Children’s Research Hospital, Memphis, Tennessee
Ron R. Davids, M.D. – Shriners Hospitals for Sick Children, Sacramento, California
Jessica Fletcher – The University of Sydney, Australia
Mark Haskin, V.M.D., Ph.D. – University of Pennsylvania, Philadelphia, Pennsylvania
Miao He, Ph.D. – Emory University School of Medicine, Decatur, Georgia
Lucia Horowitz, Ph.D. – Greenwood Genetic Center, Greenwood, South Carolina
Emil Kakkis, M.D., Ph.D. – Every Life Foundation for Rare Diseases, Novato, California
Stuart Kornfeld, M.D. – Washington University School of Medicine, St. Louis, Missouri
Dawn Jacob Laney, MS, CCRC – Emory University School of Medicine, Decatur, Georgia
Jules Leroy, M.D., Ph.D. – Greenwood Genetic Center, Visiting Senior Scholar from Belgium
Peter Lobel, Ph.D. – Rutgers University, Piscataway, New Jersey
Troy Lund, Ph.D., M.D. – University of Minnesota, Minneapolis, Minnesota
Marc C. Patterson, M.D. – Mayo Clinic, Rochester, Minnesota
Muhammad Pervaiz, M.D. – Emory University School of Medicine, Decatur, Georgia
Joseph B. Ryan, Ph.D. – Clemson University, Clemson, South Carolina
Carlos F. Salinas, D.M.D. – Medical University of South Carolina, Charleston, South Carolina
Ida Vanessa Doederlein Schwartz, M.D. Ph.D. – Federal University of Rio Grande do Sul, Brazil
William Sly, M.D. – Saint Louis University School of Medicine, St. Louis, Missouri
Richard Steet, M.D. – University of Georgia, Athens, Georgia
David M. Steinhorn M.D. – Ann and Robert H. Lurie Children’s Hospital, Chicago, Illinois
Ronald Teed, M.D. – Children’s Eye Specialists, Charleston, South Carolina
Rosanne Taylor, Ph.D. – The University of Sydney, Australia
Melinda Whetsell, MS, RD, LD – Greenwood Genetic Center, N. Charleston, South Carolina
Shai White-Gilbertson, Ph.D. – St. Jude’s Children’s Research Hospital, Memphis, Tennessee
Tim Wood, Ph.D. – Greenwood Genetic Center, Greenwood, South Carolina
Roberto Zoncu, Ph.D. – Whitehead Institute, Cambridge, Massachusetts

Children and Youth Program

On Saturday the activities got under way early! By 8.30am our young men and women had gathered in front of the hotel, awaiting the charter bus that would take them to the South Carolina Aquarium.
A short ride brought us to the Aquarium, which sits right on Charleston’s harbor. We split into two groups and the fun began. The 4D movie experience took us to the Arctic from the view of the sea life. We were misted with water, “things slithered around our legs’ and punched our seat backs, and there was even a bit of a stinky fish smell!
Afterwards, we were given a tour of the Turtle Hospital, which has almost a dozen ‘patients’ in small rehab tanks. The whole group then toured the Aquarium proper; fish, reptiles, amphibians, and birds!
One of the major highlights of the day was the classroom time. The wonderful Aquarium staff brought out turtles, lizards, snakes and even a small alligator for everyone to see and touch.
By mid day stomachs were grumbling so it was time to stop and have a great deli lunch (some even ate two!!).
The day wasn’t over as we headed to the Children’s Museum for a short visit. Most of the group enjoyed the hands-on experience there, while others were happy to sit and socialize with each other.
Soon it was time to return to the hotel. With Kevin, Carl and the driver Mike handling the loading/unloading duties, the tired but happy group was soon back at the hoteleager to tell their families about their exciting day’s experience.
We mustn’t forget all the wonderful volunteers who came to support our children and adults during their activities. Without this very generous support we would not have been able to provide such an exciting program. Thank you everyone who assisted us.

Personal Reflections

Three days before the conference I felt an emotional Tsunami engulfing me (by Trish Adkins, Mucolipidosis II Parent- USA)
My son Jamie was diagnosed with I-Cell disease in 1975 and gained his wings May 22, 1977. I have lived in a cocoon ever since. Having tried twice to join support groups for grieving parents, I never made it past the first meeting. I have never met or spoken with, much less interacted with, a family who had a child with Mucolipidosis until I found the I-Cell and ISMRD groups through Facebook. When I read of the ISMRD conference in South Carolina, I quickly booked my room and registered months in advance to attend. Three days before the conference I felt an emotional Tsunami engulfing me, so I considered cancelling my trip. However, having committed to Jenny Noble to photograph the conference, I knew deep down that backing out was not an option; attending this conference was about more than me. Two days before the conference began, I checked in and skirted the motel avoiding those I recognized from pictures I’d seen on the ISMRD Web and Facebook pages. The night before the ISMRD board’s luncheon, which I had been invited to attend, a picture was posted on the ISMRD Facebook page. There they were, everyone I had seen but not spoken to, sitting in the motel restaurant having dinner. I knew it was now or never. I picked up my camera, headed downstairs, walked up to the table, and took my first photo. With one click of the shutter I began the most incredible four days of my life.
Families and speakers registered Friday night and the excitement began as old friends reunited and new friends met. The enthusiasm continued Saturday morning as most of the children were paired with a Buddy and loaded onto a bus headed out for a day of adventure at the Aquarium and Children’s Museum.
As the buses pulled away, the sessions began. Everyone in attendance — professionals, parents, family members and friends — had one objective: to share and gather as much information as possible about Glycoprotein Storage Diseases. Between the Scientific and the Family Programs, over thirty topics were presented covering a broad range of subjects. During the breaks one could feel the synergy as conversations continued. Doctors and other researchers made themselves available to converse with all, especially parents.
The Memorial Service followed by the balloon release was a loving remembrance of the children who have gained their wings. Eyes were glued to the sky until the very last balloon was out of sight. The turnout was amazing. The presence of so many professionals, caregivers, friends, families and their children cannot be put into words for those of us who no longer have children with us.
For me the highlight of the conference came after the conference was officially over. I was sitting alone in a remote corner when Dr. Jules Leroy, known for being the first to describe the more severe form of Mucolipidosis and naming it I-Cell disease, approached and asked if he could join me. For the next ninety minutes we shared life experiences and laughs with most of our conversation revolving around Mucolipidosis. Taking as much time as I needed, he answered my questions in layman terms and explained the broad range of differences and similarities of ML II, MLII/III and MLIII. As he told me of other children, it was if they were his own, “one child from Spain”, “another child from Japan.” He seemed disconcerted that my son was one of the first to be diagnosed with I-cell but that his medical information (as far as he could remember) had not been forwarded to him. Emphasizing over and over the importance of family studies and data collection, he was genuinely interested in all aspects of my child’s life, from birth weight to our skin grafts to everything in-between giving me a list of medical information he would find useful to add to his data collection. There I sat thirty-five years after my son’s death and his life mattered.
On the way to the conference I had wondered – would I have put myself and my child through the family history study where he would have been poked and prodded, stuck with needles, and forced to be examined by numerous professionals? Could I have withstood the endless questions about my child and his limited abilities? Was it possible for me to endure four days with families I had never met and do more than shed tears? Would I be able to understand any of the topics being discussed?With every picture I took, session I attended, person I met, balloon I released, and tear I shed, I slowly began to break through the cocoon I had been in for thirty plus years. I have emerged as someone who not only believes in the importance of Family History Study and medical/family conferences, but also as one who wants to do my part in assisting the medical field to find a cure for all Glycoprotein Storage Diseases.

Thank you ISMRD (by Adian Trestianu Mucolipidosis II Parent – Italy)

In the first place I want to thank ISMRD for what they have done for us. I am very very grateful for the help you gave us to attend the ISMRD conference.
The conference means a lot for us. It was a great opportunity to learn more about my daughter’s disease and about how to manage her health. Dr.Cathey and her team are the most wonderful doctors that I have ever met. They are very good specialists and they teach me so many things. Dr. Leroy was great, a great name of the medical world. With their help I started to know better my daughter’s disease and I am feeling better prepared in fighting with ML2.
I have trust that someday these great doctors will find a cure for this destructive disease.
I have met so many wonderful people and families there and made so many connections and life long friendships. Now I know that I am no longer alone and that there are great people around me, even if we are so far apart. Thank you so much ISMRD for your very generous support in getting us to Charleston.
It was beautiful there in South Carolina and I am very glad that I could attend to this conference.

Isolation Broken (by Birthe and Truls Roll Mucolipidosis III Parents – Norway)
It is not easy to describe the impressions and the feelings we are left with having participated in our first ISMRD conference. As many of you already know, it is all pretty new to us, as Pernille was diagnosed in late march this year. We are still getting used to the idea and the fact that Pernille’s future will be different, challenging, and also painful and hard for her.
Since there are no other people with ML III diagnosed in Norway or Scandinavia – that we know of, the knowledge in this field in the healthcare system and among doctors here is very poor. We all had to go online and read as much as we could find. As a family we were very unsure of what we would hear and see as we began our long journey to Charleston this summer.
After coming home again and processing all of our information and impressions, we are left with a greater understanding about this disease. We learned so much about ML some of it good and some of it not so good. We now have knowledge and understand more about what is happening in Pernille’s body. We know that her development will be slow and understand the future challenges she and we together will face. Although each child with this disease is unique and the disease may and often does proceed differently from person to person, there are a lot of things we see in common.
With the knowledge we now have, we can inform our doctors here at home about what will happen and what areas they need to follow carefully. This will help her future. Besides the knowledge and ability to meet with the premier experts in this area we also established good friendships with other affected children and their families which we truly appreciate. Being able to talk with others who have been in this position longer than us and who can provide advice and support is just overwhelming and fantastic. We would again like to thank Jenny Noble for inviting us to this conference to meet the rest of the ISMRD family and to thank everyone for welcoming us in. We hope to keep in touch through email and facebook. We will see you all again at the next conference!
With Love, Birthe and Truls Rolls

First conference of this kind for me (by Julia Taravella Aspartylglucosaminuria Parent USA)
I got my kid’s diagnosis a month before the conference and was pretty devastated. The conference was very beneficial for us to understand the disease and to connect with other families.
It was great to meet and talk to doctors, exchange experiences with families and discuss option and hopes for rare disease treatments and cures. The conference was very well organized, the location was great, and overall it was a great success.
Unfortunately there are not many resources available for rare diseases. This was the main contributing factor in my struggle to get the children’s diagnosis that lasted over 15 years. Conferences, natural history clinics, interactions with medical professionals will all help future families identify and deal with these diseases.
It was very good to see people from different countries that visited the conference. It is only working and collaborating together will we be able to find a cure. There are several similar organizations around the world putting together conferences for Lysosomal storage disorders, all of them presenting highly valuable information. Three of them were organized within one month. That would be my suggestion for the future is to co-ordinate conferences in the different parts of the world and spread them apart in time.
Julia Travella

Loneliness broken by ISMRD family (by Smith Lambert, Sialidosis affected adult)
To the ISMRD family,
There are no words to depict, distinguish, draw, identify, or even describe the help that ISMRD facilitated for me. You have no idea the place of loneliness I felt with this disease. And no, I am not talking self-loneliness because I feel loved by family, friends, and especially my wife everyday. However, to know that you had the mobility to do whatever you pleased and for it to be vanished from you without knowing why or the reason, it is sadly heartbreaking. What was even more heartbreaking, not only did people not know of the disease in my circle of doctors but they didn’t care to do much about it.
I actually started losing hope and started accepting the fate I would face in the upcoming years. Even if that meant me being disabled from head to toe, losing my vision, or even worse. I was starting to accept my fate and accept what God would present me in life. I hate comparing diseases cause none are the same. But if I can make a comparison some days and some nights I felt like I had stage four cancer and was just waiting the the day. I had really reached that point.
However, ISMRD made me feel like I had HOPE. ISMRD made me feel not alone anymore. ISMRD made me feel I had another family, and with that, I honor that with great gratitude. And with that great gratitude, I am taking a new approach. I will fight this disease to the bitter end. I will not let it defeat me, destroy me, or put me down. I will now only rise to the occasion knowing I am truly blessed. More importantly, I feel like I need to fight this disease for all the other families suffering from this rare disease. I think it all starts with one person and I feel like now, why cant that one person be me.
ISMRD you are truly a blessing and you have no idea how much. From the ISMRD board, researchers, doctors, and the families suffering – YOU ARE INCREDIBLE. I BOW DOWN AND APPLAUD YOU FOR EVERYTHING YOU HAVE DONE!
Smith Lambertson – Sialidosis affected adult.

2nd International Conference on Glycoprotein Storage Diseases 2007
2007-07-26 - 2007-07-27 | Michigan, United States
The second International Conference for Glycoprotein Storage Diseases was held in Michigan, USA July 26–27 2007. The conference was sponsored by the National Institute of Neurological Disorders and Stroke, The Office of Rare Diseases and the National Institutes of Health.
ISMRD is very grateful to the following organizations who also sponsored the conference: Amicus Therapeutics, Genzyme, GOLD (Global Organization for Lysosomal Diseases), Novartis, The National MPS Society, Sigma Tau Pharmaceuticals.

Crossing Oceans for a Cure 2005
2005-04-22 - 2005-04-23 | Ann Arbor, MI, United States
Crossing Oceans for A Cure Family Workshop & Fundraiser was one of the largest events undertaken by ISMRD. Families that had never been exposed to others whose children had the same very rare diagnosis were afforded the opportunity to meet. These same families were tutored about Glycoprotein Storage Diseases, Mucolipidosis and Mannosidosis by eminent professionals from across the globe. On Saturday everyone witnessed and participated in ISMRD’s first Walk-Run Fundraiser, which raised more money than any single event to that time!
None of this would have been possible without the untiring efforts of Terri Klein, Jenny Noble and their crew of volunteers. Above all, it could not have occurred without the support of corporate and individual donors, whose faith in ISMRD resulted in the overwhelming success we enjoyed!

ISMRD gratefully acknowledges the following organizations that sponsored much of our walk run and conference costs in April 2005, and have helped us make a difference for families affected by Glycoprotein Storage Diseases:
The National MPS Society | Colorbok | Aeschliman Equipment | Avita Artesian Water | Home Inspection Professionals | MPS Australia | Insurance One Agency | All Sewn Up! | FM Global | Adair Printing | Sky Promotions | Genzyme | Care Bags Foundation | John Adams Mortgage | Webers Restaurant & Hotel |Diad Design | Cathy & Harry Johnson, Caterers
Thank you for making a difference to our families!
“Out of all the conferences Kevin and I have attended this was by far the most informative and useful. Speakers were outstanding and the chance to talk with each one individually about concerns and needs was incredible!”
“We always came away from conferences being glad we went because we learned something, yet always felt our needs were not being met. Not this time, though. The doctors were all great!
“This weekend was a wonderful memory for all of us to cherish and hope to achieve again someday!”
“Congratulations on the fantastic result!! This is simply amazing and shows what can be accomplished by dedicated people committed to a cause.”
“I came with little knowledge and left with alot, mostly new friends. The sharing of information and being part of a big family has been fantastic!”

1st International Scientific and Family Conference on Glycoprotein Storage Diseases
2004-04-01 - 2004-04-04 | Rockville, Maryland., United States
An historic four-day event for Glycoprotein Storage Diseases occurred April 1-4, 2004 in Rockville, Maryland.
This event witnessed the first professional and family conference on these diseases held anywhere in the world. On April 1 & 2 the National Institute of Neurological Diseases & Stroke (NINDS) sponsored a rare disease workshop titled The Glycoproteinoses: An International Workshop on Advances in Pathogenesis & Therapy. The program for professionals was put together by a committee including Steven Walkley, Alessandra d’Azzo and Leena Peltonen and involved almost 50 invited experts from around the world. From April 1-4 ISMRD simultaneously sponsored its first Family Conference, which featured a day-long program led by many of the scientists involved in the Workshop, disease focus groups for families affected by similar diagnoses and a Sunday strategy session for attending parents with the ISMRD Board of Directors. Other highlights included a Children’s Program involving games and activities while parents attended various meetings, a Thursday evening reception for scientists and families and a Gala Dinner Friday night. At the dinner, Christopher Llewellyn Reed premiered his forthcoming documentary film about Taryn Murphy and Alpha-Mannosidosis.
This conference enabled scientists and clinicians to share the latest techniques and strategies for furthering understanding and eventual treatment of all nine diseases. For families it was a rare chance to meet other parents and children affected by these diseases and to talk one-to-one with many of the participating scientists. Children who attended had more fun than the adults, thanks to a superb program developed by Children’s Program Coordinator, Sandy Miller. For ISMRD’s Board of Directors, it was a special opportunity to finally meet the constituency its serves and to share ideas that will make ISMRD a more effective advocate for all of them.
Reflecting the true global reach of these diseases, despite their very rare nature, attending families (like the scientists involved in the Workshop) came from diverse locations. Among the countries represented by our families were Canada, New Zealand, Australia, England, France, Norway, Latvia and the United States. Though language was quite a challenging obstacle for some, it did not prevent them from enjoying an overall exhilarating and informative experience. All of us were especially affected by children like Paul Grégoriadès of France and Stanislav Sovetchenkov of Latvia, whose smiles belied their inability to communicate in English!
The conference could not have taken place but for the dedication of several key people, who worked diligently for almost a year prior to April 1. Among those we would like to single out for our deep appreciation are the following:
Steve Groft, Director of the Office of Rare DiseasesDanilo Tagle, Ph.D., Program Director for NINDSThe Organizing Committee comprising Dr. Steven Walkley; Dr. Alessandra d’Azzo and Dr. Leena PeltonenDr. Emil Kakkis, Senior Vice President of BioMarin PharmaceuticalsSandy Miller and Debora Murphy and Gretchen Oswald of ISMRD.These individuals gave willingly of both their commitment to the ideals of this conference, as well as their time, sacrifice and support!
This first conference on Glycoprotein Storage Diseases is but the end of one journey that ISMRD embarked upon when it formed in March 1999. We now face a future of continued challenges for these diseases, but one of great potential whose ultimate goals will be the realization of effective treatments and therapies for all.

ISMRD Family Conference
There were so many highlights to our conference, many not readily interpreted into words, that we cannot possibly fit them here. We owe much to the families who traveled long distances to join us, and to the professionals who gave their time and expertise, so that we might leave more knowledgeable and empowered than when we arrived. Above all, thank you to the Office of Rare Diseases for supporting conferences on rare diseases such as this!

Children’s Program April 2-4:

Not to be outdone by their parents, children who attended ISMRD’s Family Conference were given special focus through a wonderful program of activities Friday to Sunday.
Thursday & Friday, April 1-2:

Day One and Two of the NIH Scientific Conference was one filled with difficult and technical information for families. Families were invited to observe these all day sessions as part of their conference registration, and gave many their first opportunity to see and hear those who have been or are considering studying their diseases. At the conclusion of the Workshop Friday afternoon, ISMRD President Paul Murphy led a group of parents and children to the podium to personally thank the Workshop participants for their involvement. Late afternoon Friday featured focus groups for families with similar diagnoses.
Thursday evening ISMRD sponsored a reception for families and scientists and Paul Murphy presented Dr. Steven Walkley with a special plaque in recognition of his crucial part in this conference. Friday night ISMRD sponsored a gala dinner, at the conclusion of which Christopher Reed premiered his film documentary about Taryn Murphy and Alpha-Mannosidosis.
Saturday, April 3:

A day-long series of presentations from professionals marked Saturday’s events. The day was divided into two parts: What Is Known and What Can Be Done. It began with a humorous, delightful and understandable overview of Lysosomal Diseases by Dr. Kelley Moremen. Other presentations looked at the molecular mechanics of Glycoprotein Diseases; the role animals play in research; the clinical impact on patients and how to manage the symptoms; potential therapeutic remedies in the future; global cooperation among Lysosomal Disease organizations, science and the biotech industry and, finally, blood and tissue banking as a way to accelerate understanding of these diseases. At the end of the day we were all tired, but full of questions and ideas!
Sunday, April 4:

Families met for four hours around a large combination of tables, facing one another and sharing their hopes for the future. This hope was manifested in concrete ideas for ISMRD’s mission, which Board Member, Gretchen Oswald, recorded on large flip-chart pages. The meeting commenced with a brief summary of Newborn Screening developments from Dr. John Hopwood, which all felt was an important area for early and accurate diagnosis of these and other Lysosomal Diseases. Following this parents shared their common experiences and then participated in a free flowing exchange of ideas about how ISMRD can more effectively carry out its mission.
All parents present were resolute in their desire that Glycoprotein Storage Diseases take a more prominent place in global research projects. Each one attending left with new friendships and a common desire to ensure the continued momentum of the conference’s accomplishments.

ISMRD Children's Conference

Image: Sandy Miller, Children’s Program Coordinator, with Anna James.
Since beginning our planning for the ISMRD Family Conference back in April 2003, we had looked forward to the opportunity for attending children to meet and interact with others similarly affected and their siblings. For many, this would be the first time they had ever met another child with the same diagnosis or one similar to theirs.
As the conference date approached, it became clear that the children’s program had taken on a life of its own! To enable parents to attend the Workshop and Conference sessions, the planning committee decided professional caregivers would be needed instead of parent volunteers. We also knew that it required someone extremely talented and versatile to develop and manage both the activities and the caregivers we needed to find.
After receiving no responses from postings on a Maryland Nonprofit volunteer website, I contacted the principal at my daughter, Taryn’s, school for help. She emailed ISMRD’s “volunteer opportunity” for a Children’s Program Coordinator to the school staff. After about a week (a very long week!), I was approached by one of the school Social Workers who wanted to know more about the position. She expressed that she was probably not qualified, having not done anything like this before. We talked for a few minutes, I gave her the best pep talk I could muster, yet she was still unsure and wanted to think about it. I did not want to leave without getting a commitment, however. After all, here was someone who was interested in a job that, until now, no one had wanted, and a job that desperately needed to be filled. This was a “moment of truth” when all pride goes out the window and one must do what needs to be done!
Therefore, in the busy foyer of St. Elizabeth School, with students running to their busses and staff mingling about, I got down on my knees and begged Sandy Miller to take the position of ISMRD Children’s Program Coordinator. Sandy was mortified! She begged me to get up off of my knees, but I told her I would do so only if she agreed to take the job. Sandy agreed and the rest is history.
I believe all those who attended our conference would agree with me that Sandy was not only qualified for the job, but developed a program that emphasized our children’s talents, recognized their different ages and abilities and provided a safe and loving environment for them to interact. I call Sandy a Godsend. Thank you, Sandy Miller, from all of us!

Glycoproteinoses: An International Workshop on Advances in Pathogenesis and Therapy, by Steven U. Walkley, V.M.D., Ph.D
This scientific workshop was led by Drs. Allesandra d’Azzo and Steven Walkley and attended by approximately 50 scientists from North America, Europe and the Pacific, all with interests and experience in the study of glycoprotein storage diseases. Many family members also attended the scientific sessions.
The meeting began with a series of lectures on how proteins are glycosylated (Dr. S. Kornfeld), how they are eventually degraded in lysosomes (Dr. B. Winchester), and what happens when defects occur in lysosomes which block this normal degradation (Dr. M. Patterson). In Session 2, mechanisms by which the inherited defects in lysosomes actually cause cell dysfunction and disease were explored. Dr. D. Marks, from the laboratory of Dr. R. Pagano, and Dr. S. Walkley spoke of the importance of secondary sequestration of cholesterol and glycosphingolipids and its potential consequences in lysosomal diseases. Dr. A. Cuervo discussed the degradation of cytosolic proteins in lysosomes and of the overall mechanism of chaperone-mediated autophagy. Drs. E. Neufeld and R. Proia discussed their studies on the importance of microglia and brain inflammation as participating in lysosomal disease pathogenesis, as well as possible significant differences between different types of disorders in terms of the microglial-mediated response. Dr. A. d’Azzo spoke of mechanisms contributing to neuron death in the lysosomal disease, GM1 gangliosidosis. Sessions 3 and 4 were focused on discussions of many available animal models of glycoprotein storage diseases as well as molecular mechanisms contributing to individual diseases. Included here were reports of glycoprotein storage diseases in mice, guinea pigs, cats, dogs, goats and cattle, and presentations by Drs. M. Haskins, A. Jalanko, J. Hopwood, D. Schindler, A. d’Azzo, P. Lobel, and W. Sly. There were also 2 sessions of speakers focused on therapeutic strategies in lysosomal diseases. Included here were reports on enzyme replacement therapy in alpha-mannosidosis by Dr. P. Saftig, mechanisms by which microglia may transfer enzyme to diseased neurons by Dr. K. Dobrenis, the use of cord blood and Hematopoietic stem cell transplants by Drs. M. Escolar and C. Peters, respectively, and the use of adenoviral and Lentiviral vectors for gene therapy by Drs. M. Sands and J. Medin, respectively. This session ended with a remarkable report on the use of an adenoviral vector for the treatment of brain disease in an animal model of alpha-mannosidosis by Dr. C. Vite.
Several new investigators to the field were also invited to attend the meeting and present their findings on lysosomal diseases, including Dr. Y-P Wu (mechanisms of inflammation in storage diseases), Dr. C. Tifft (surrogate markers of lysosomal disease progression), Dr. K. Ohmi (the role of gliosis in storage disease), Dr. M. Ellinwood (a newly discovered model of mucopolysaccharidosis type IIIB), Dr. M. Yoshimitsu (the use of Lentiviral vectors in gene therapy), Dr. G. Yogalingam (the use of PPCA as therapy for sialidosis) and Dr. D. Wang (enzyme replacement therapy in sialidosis and galactosialidosis).
The meeting closed with a roundtable discussion of pathogenic mechanisms, animal models, treatment strategies, future research priorities and research collaborations, and funding strategies, chaired by Dr. S. Kornfeld and addressed by Drs. M. Haskins, J. Hopwood, L. Neufeld, D Malm, and W. Sly. Consensus emerged on several points. Firstly, one of the major areas where our knowledge of glycoprotein storage diseases was believed most limited was in the actual mechanisms by which lysosomal dysfunction leads to cell and organ failure, particularly for brain as well as for bone and cartilage. Secondly, the availability of animal models of lysosomal diseases was viewed as a major research resource for both understanding issues of pathogenesis and for evaluating potential therapies. The one notable omission in terms of disease models was of a mouse model of fucosidosis, which many felt would be a major resource that should be developed as soon as possible. Finally, all agreed that the meeting had successfully brought together key leaders in the field, and that many new collaborations had been established and that additional substantial progress in understanding and in treating the glycoproteinoses could be anticipated.

Personal Reflections

The Longest Journey Begins With the First Step (by Jenny Noble, Mucolipidosis III Parent)
Mucolipidosis has taken a leap into the future and found a home! I want to thank Paul Murphy and his team of conference organizers for including ML II and ML III as part of ISMRD’s focus on the Glycoprotein group of diseases. The conference in Rockville was a truly amazing experience, the simplicity of the information given at the Family conference was just wonderful. Never in 17 years of diagnosis have we heard an explanation of how the enzymes get into the Lysosome explained so simply or in our case how the messages are missing on some of the enzymes. It is incredibly exciting seeing ML families finally uniting, sharing information and just supporting one another. During the conference we became known as the Stalkers, a group of parents crying out for information and answers. We used the weekend well to sow many seeds. Those poor Doctors must have wondered what they were up against, but it was a wonderful opportunity to spread the exciting results of Pamidronate treatment in ML2 and 3.
Our Journey with Pamidronate is a long one based on our efforts to firstly discover why Hayden and Sarah had so much pain and why conventional drugs didn’t work, but our involvement began when we started asking questions of all our International Experts, such as:

Why do these children have such high levels of pain?
Why don’t anti-inflammatory drugs work?
If they don’t have arthritis what are we dealing with?
We must be missing something there has to be an answer?

While attending an MPS meeting in Australia my husband, Paul, and I convened a medical meeting which consisted of one UK Dr, two Australian Drs, and New Zealand’s metabolic nurse. We were determined to come away from this meeting with a plan of action if not a possible treatment. The UK Dr had given a presentation about a list of drugs that help with some of the problems that MPS patients have. He mentioned a group of drugs called Bisphosphonates, which are useful for pain control. Finally a mention of a group of drugs that we had never heard of.
This possible treatment was discussed at our meeting, but it was thought that Bisphosphonates would only work for chronic pain and bone diseases and unless Sarah had either of these conditions it would not be worth considering, but being parents who don’t take no for an answer we pushed ahead and asked our many questions. This lead to Sarah being seen at Westmead Children’s Hospital in Sydney for a completed medical work up. For us that meant going home to New Zealand and making arrangements for us to travel back to Australia, which we did and so began a week of intensive testing for Sarah to come up with a diagnosis of osteopenia now known as Secondary Metabolic Bone disease.
The recommended treatment for bone disease was PAMIDRONATE! Finally this looked like something that would make Hayden and Sarah’s live more bearable. After 6 months of treatment we saw incredible changes in pain, sleeping and over mobility and well being. Our Pediatrician decided that we really needed to document what we were seeing and suggested that we start forming the basis of a Medical paper that would have several Authors. I suddenly found myself pulling data for the Drs. proof reading and supplying correct dates and stages that Hayden and Sarah went through prior to treatment and of course all the changes that happened during the 15 month study.
Since the ML3 study Prof David Sillence has carried out a study on ML2 in Australia and this has now been submitted for publication. Here in New Zealand we have a patient who has Maroteaux-Lamy using Pamidronate, with results of well being, no pain, sleeping, wanting to get out and about. The questions being asked now are Is this a possible treatment for other Lysosomal Patients? It certainly needs to be considered and researched. How can ISRMD help? We need and International bone study which requires funding and co-ordination. We need to look at other Lysosomal diseases and discuss the options of Pamidronate. We need to get these case studies out into the world of Lysosomal Diseases. We would like to leave you all with this thought: “the longest journey starts with the first step”

Postscript: Jenny gave voice to the quest she describes by becoming a member of ISMRD’s Board of Directors following the conclusion of the conference. She is also Secretary for Lysosomal Diseases New Zealand.

A Piece of Bad News… and A Piece of Good Luck! (by Sonja Woolley, Alpha-Mannosidosis Parent)

My name is Sonja Woolley and I live on the outskirts of London in the UK with my husband Martin, our five year old son Reuben and our daughter Saffron (Saffy, Princess Peach or Nutjob – according to behaviour) who has just turned three.
We took a body blow in late February of this year when Saffy was diagnosed with Alpha Mannosidosis. Whilst we were reeling from this news my sister Paula, more pragmatically, found the wonderful ISMRD website, learned about the forthcoming conference and started correspondence with Paul Murphy. Challenged by her commitment that if we didn’t travel to Rockville she would do so on our behalf, we booked our tickets and prepared to educate ourselves in a disease that very few doctors had any knowledge of.
It should be stated that our biological, or for that matter scientific, knowledge is extremely scant. For my part I had never even heard of the lysosome and had to raise a quizzical eyebrow when a local health professional commiserated with me on my daughter’s metabolic disease – I had no idea she had one!
A quick glance at the agenda for the conference ensured us we would gain a swift and expert introduction to the specifics of Saffy’s condition, but for us the greatest pull was the chance to meet the other Alpha Mannosidosis children and their families. The state of Saffy’s glue-filled ears made a pressurized cabin quite out of the question, so we reluctantly left the children at home.
Conference Highlights
Moments of hope

Charles Peter’s presentation on the positive effects of BMT’s on Alpha Mannosidosis children felt like someone had just turned the lights back on. Learning that the mental deterioration had been halted and some of the physical symptoms lessened amongst his patients started a dream which still gets me out of bed every morning.
Emil Kakkis’ presentation about the fantastic results of Enzyme Replacement Therapy in MPS kids gave great hope for the future ….. and brought home just how important having money is, even where it should matter least.
Meeting Danielle Forsman, whose daughter has Alpha Mannosidosis, is a year older than Saffy and is now over 6 months post transplant. Danielle was a fantastic source of information and inspiration!
Morton Cowan gave a presentation which simplified the bone marrow process and then had the generosity to sit with myself and Martin for over two hours while we fired questions at him.

Moments of awe

Being told that the gathering of 16 parents/relations/carers of Alpha Mannosidosis children was the largest ever in the world was staggering. Our 5 week thirst for knowledge paled into insignificance by the stories we heard of misdiagnosis, bungled opportunities and misplaced advice.
Marc Patterson and Dag Malm giving brilliant presentations to the family conference on the more practical issues of actually dealing with our children’s diseases day-in and day-out.
Kelley Moreman being smart enough to make us all think understanding storage diseases isn’t that hard!

Moments of mirth

Following the first morning of advanced bio chemistry we were able to assure the French mum, Anne Grégoriadès, sitting behind us that her lack of English may not be the barrier she anticipated – we hadn’t understood a word that had been said either!And finally, and undoubtedly at the forefront of my mind John Forman serenading myself and Martin in the Doubletree bar with an unmatchable edition of “You’ll never walk alone” – ably accompanied by the giggles of Jenny and Paul Noble! Thank-you John!

Our recent diagnosis, Saffy’s age and relatively mild symptoms to date all put us in a unique position at the conference. We had come seeking the answers to many questions and we had found them. We had boarded the plane to Washington D.C. considering ourselves unusually unlucky and very isolated by the rarity of Saffy’s condition. Six days later (and with considerably more luggage courtesy of Toys-R-Us) we started our trip home feeling that the hard work of the scientific and medical professions meant that we had options to vastly improve Saffy’s life. Mainly we knew that the commitment and dedication of a group of parents in realising this conference, some that have been cruelly denied our options by time alone, had left us with a debt we will never be able to repay.

How Could I Not Attend? (by Bill Skojec, Sialidosis Parent)

I am writing to share my experiences regarding the first ever International ISMRD conference which addressed the genetic lysosomal storage disorders that plague families like mine who were gathered together. I was there on behalf of my son, Alexander, who has Sialidosis Type II. Alex was not able to attend the conference as a result of illness. In fact, I was contemplating not attending the conference, as I was also ill at the time and had actually called in sick to work the first morning of the conference. However, as I sat in bed that morning weighing if I should go or not, some very clear thoughts came to me. First, and foremost, was the thought that my son had sacrificed so much to this disorder and remained an inspiration to me and all of those who work with him. How could I not attend? The second thought was that I would be missing the opportunity to meet with some of the people I have corresponded with via the internet and telephone for some four years now. Again, how could I not attend? My final thought was that I would be missing the most important research in this area by some of the greatest minds in the world today. I could not pass up such an opportunity so I did attend the conference and the experience was among the most valuable to me in my entire life. I would like to tell you why this had such a profound affect on me.
The conference was a huge success in my eyes because it brought families like mine together with each other and also with the dedicated, hard-working researchers trying to make a difference with these disorders. I felt a strong bond with the other families as we sat and shared our stories. Many of these families had traveled great distances to attend this event. It was especially meaningful to me to meet Zeny Christian, who had the strength and inner fortitude to attend the conference despite having lost her granddaughter to Sialidosis. We shared our experiences and looked hopefully to a future where families would not have to face such loss. I was also happy to have the opportunity to see Ida Ryan, Perry Huneault, and their son, Tyler, again. Tyler has Sialidosis and was born two weeks apart from my son Alexander. We have tried to catch up with each other every year at Dr. Suleiman Igdoura’s laboratory in Hamilton, Ontario. Dr. Igdoura is also researching possible genetic therapies for Sialidosis.
There were many researchers present who offered us some hope and optimism that there would one day be a cure for these disorders. None more relevant to my son, than Dr. Alessandra d’Azzo, who took the time to spend an afternoon with the families like mine who had children afflicted with Sialidosis. Her dedication and devotion to finding a cure for this disorder were as apparent as her warmth and compassion. I was moved by the fact that she understood the pain we all carried and did not just stick with research findings in detached manner. We are truly lucky to have persons like her involved in this research.
My final thoughts about the conference concern Paul Murphy, the president of ISMRD, and the other board members who devote their time to these disorders. I had contacted Paul four years before when my journey with Sialidosis began. He was one of my first contacts in those days and was instrumental in helping me find others to talk with and share my experiences. He also created Alexander’s Hope – a webpage that continues to be part of the ISMRD site. This webpage with our story has put me in contact with people from all over the world who have children diagnosed with Sialidosis. Until I met him at the conference, I had no idea how much time and hard work he devoted to ISMRD. His efforts regarding these disorders afflicting our children are truly amazing and I would like to tell him how grateful I am for all he has done. I would take part in another conference without reservation and look to the future with hope and optimism that one day a cure will be found.

A Home at Last! (by Brenda Haggett, Mucolipidosis III Parent)

Well, where to begin? My name is Brenda Haggett and my husband John and I have a little boy named Zach who was diagnosed with Mucolipidosis type III, or Pseudo-Hurler Polydystrophy, just about a year ago. Getting a diagnosis was not a surprise to us, as we had been told the morning we were to leave the hospital with our newborn baby that there was speculation that something was seriously wrong with him. We were robbed of the genuine happiness our first born should have given us. Instead, we were enveloped with fear as to what might be wrong with this seemingly beautiful and quite perfect little boy we had waited nine long years to welcome into the world. We had been thrown into parenthood on guard and on defense from day one. So began the several years long journey to finding an answer.
It was May 2003 and my little trooper was now 2 years old, and making incredible strides with the daily visits from Early Intervention therapists. They quickly became the support and confidantes that John and I so desperately needed! It was they who exalted and delighted in the triumphs Zachie made, albeit much later than all his peers and our peers children, but equally amazing and triumphant in our eyes!!!! We were so sure that he would persevere no matter what the doctors came up with. So it was at this point. having finally became comfortable with the fact that our son was only “globally delayed” for unspecified reasons, that we had our bi-annual visit to the Genetics clinic. For 3 years, both John and I attended each and every visit together and heard nothing but the same: “well, he looks great so go home and we’ll see you again in six months.” Today was the first time I had ever come to a visit alone, as John had a conflict at work. Of course, this had to be the day I was told that they saw significant changes in Zach and needed to do some lab tests to confirm what they believed to be a diagnosis of MPS (Mucopolysaccharidoses).
I was utterly shocked and terrified to say the least! We went through the gamut of blood tests and urine samples only to hurry up and wait two very long weeks. Of course after sharing all of the gory details with my husband, the first thing we did was submerge ourselves into internet research of this “MPS” title. Anyone who has any knowledge of this cruel and unwaveringly incurable disease, can no doubt understand how unbelievably shocked and mortified we were to learn that our baby had this deadly disease. The days and hours couldn’t go by any slower. Just a week after the labs were sent out, my husband had an out of town business trip for three short days that just also happened to be Mother’s Day weekend. The mere thought of my child having such a life threatening illness immediately put every little thing in life into perspective. To this day, I have to thank God for at least allowing me to see these truths so as to be able to truly cherish every single moment that we share with each other. I couldn’t have enjoyed every moment of that Mother’s day more except maybe if John had been there to enjoy it with me. The following day it was back to business as usual and we were in the midst of physical therapy when the phone rang and I the heard the worst set of words in my life. “Mrs. Haggett we have the results from your son’s labs and he has a lysosomal storage disorder. The good news is that it is one of the milder ones, not MPS, but ML.” I remember them wanting to set up a meeting the next day and telling them I couldn’t have one until my husband returned which was not for several days. When I hung up the phone, the first day of the rest of our life began.
Life had never been sadder or more depressing than the next few months. We immediately did what I suspect just about every other parent does when newly diagnosed, assumed the position of fight or flight! In our case it most definitely seemed to be Fight! We became members of the National MPS Society and received all the information we could and searched nightly on the internet for everything ever published about Mucolipidosis (which we sadly we discovered was not very much)!! I made contact with another ML parent who was the first person that had any clue of what ML was! She was truly a lifeline for both of us. She helped us address our fears and feel as though we were not alone. Even with that one contact, however, we were alone in our own city where not even our doctors had experience with ML. This is not surprising, as there are probably less than a dozen affected children here in our country, and maybe a little more than that around the entire world. I must give credit to the MPS Society for having the bulk of information available to newly diagnosed families in search of answers. I must also be honest when I say that I really did not find much in the way of family support, due to the mere fact that there are so few children affected by ML.
To which I can now say my husband and I have finally found!!! All in part to ISMRD!
I do have to thank the MPS society for making our connection to the ISMRD possible. I received notice that the ISMRD would be broadening their organization’s umbrella to encompass more rare genetic disorders, and to our astonishment, that included both Mucolipidosis II (I-Cell Disease) and Pseudo-Hurler Polydystrophy. I couldn’t get to the ISMRD website fast enough to find out more! I then received the brochure informing us of the upcoming first ever conference. It promised the latest information on current research from professionals from around the world. After nearly a year of searching high and low for some sort of promise in the area of research and not being able to get a straight answer out of anyone in our immediate care, it took us all of maybe three seconds flat to decide we WERE coming!!!!
April couldn’t come soon enough and the idea of actually meeting other families with ML couldn’t be more exciting! When we first inquired about how many ML families might come we were told maybe three. Well, that was two more than we knew right now and was the best news we had heard in almost a year! So we were off, and after nine long hours in the car with a very exuberant three year old we were ready for sleep. Luckily enough we were blessed with having the company of our family “Rock”, John’s mother, who came with us so we would not have to worry about Zachie while we were in sessions. We began the next morning registering and getting our agendas for the next few days when to our delight, Paul Murphy pointed us in the direction of our new “family!”
There they were: the ever experienced couple with two adult children with ML and the mother of a little boy a few years older than Zach, a beautiful little girl and a handsome young boy who all looked almost identical to our son, all equipped with pictures and hugs to match. It was instantaneous. The wall we had spent a year sheltering ourselves behind from even our closest friends came immediately tumbling down. They know, they understand, they are us!!! I can’t tell you how amazing it was to finally be among someone that truly new my life! It was astronomical. The comparisons were shared, the fears were validated and the bond had been forged!!!! We spent the next four days inseparable with one another trying to learn every morsel of information and looking for any small light of hope from these scientific individuals who most certainly dedicate their souls to this work. After the initial “fish out of water” feeling, we began to understand the medical jargon with almost ease and actually felt ourselves compelled to push them even further. I am most confident that some of these doctors had second thoughts when the newly formed clan of ML families besieged them with our thoughts, ideas and concerns concerning research and possible treatments for our children. I think the most wonderful moment was when I realized that these people did not get upset with our anxiousness; they were actually refreshed and possibly even moved by our steadfastness and love for our children. They wanted to be here to meet with parents and see our children. This has never been the experience with any doctors prior to this. I have never been in the same room with so many people that actually wanted the same for my child as I myself do: a cure, nothing more, nothing less. This is by far the most incredible and moving feeling I think any parent of a child with special needs, much less a rare disorder, could possibly experience.
There were so many moments like this, though, throughout the conference. As we sat awaiting the topics that applied to our disease, we got the opportunity to learn about other rare diseases and realize just how similar the feelings of hopelessness and drive toward a cure are among each of our equally rare disorders. This may be the most defining point of the entire conference in that we all share the desire to find a cure for these innocent children and the only hope they have is what evolves from our drive to find the answers! This is what I myself brought away from this wonderful experience: that we can defeat these disorders, maybe not in time for our own children but possibly the next generation of those afflicted. This can be done if we work together for the sake of all of our children and stand as a united front against these disorders. I really am so honored to have been given the opportunity to express my concerns and hopes for the future and feel very united with not just the ML families but all the families we met at the conference.
Upon leaving this conference, full of so much hope and promise for my son’s future, I couldn’t wait to attend the next conference and visit with all of our new allies. Since returning home, we have kept in touch with all of our new family members almost daily thanks to the Penguin Café on the ISMRD website. This website has quickly become a daily ritual in our household and even more than that a feeling of community with the capability of becoming a way to become more involved in what I believe is truly where my heart is destined to be. We have the resolve to be globally connected and become an even stronger voice within the research community, if we can all just work together and do our part. I hope that everyone will take a few minutes to check out the Café and see just how much it has changed and how much support it can offer your family. I truly feel that we can achieve great things through ISMRD, which to me is a vehicle of hope and future flight for all of our beloved penguins!
