ConnectING FAMILIES
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PO Box 2866

Bala Cynwyd PA

19004 USA

info@curemld.com

We are grateful for the support of our friends and partners:

Support for Cure MLD comes from an unrestricted grant from Orchard Therapeutics. 

© 2019 by Cure MLD | Proudly created by CAZ Media Design

Where can I get medical care for MLD?  

We strongly encourage you to contact the doctors at the Leukodystrophy Center of Excellence at the Children’s Hospital of Philadelphia (CHOP) to enroll in the MLD Natural History Study.  The team at CHOP has specialists committed to the care of children and adults with MLD and this natural history study is an excellent (and no cost) way for you to access these specialists. Patients from around the world can participate in the MLD natural history study. Click here to learn more.

 

There are several hospitals where you can work with specialists dedicated to patients with MLD.

 

Our friends at INVITAE are providing FREE LSD testing, and that includes MLD for patient families.

Find out about free testing for MLD!

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Who are the specialists who can help me with my loved one's care?  My local doctors have never heard of MLD, I feel I know more than they do.
 

While doctors with expertise in MLD cannot contact your local doctor, they can be invited to consult   with your doctors.  Here is a list of specialists from around the globe with expertise and research experience in MLD.

 

Phsyisicians and researchers with expertise in MLD:
 

  • Dr. Laura Adang, Children's Hospital of Philadelphia (CHOP), Email: adangl@email.chop.edu

  • Dr. Alessandro Aiuti,  San Raffaele Institute for Gene Therapy HSR-TIGET,  Milan, Italy, Email: alessandro.aiuti@hsr.it

  • Dr. Patrick Aubourg, Hôpital Saint Vincent de Paul, Paris, France, Email: patrick.aubourg@inserm.fr

  • Dr. Alessandra Biffi, Professor of Pediatrics, University of Padua and Chief of the Pediatric Onco-hematology Unit of Padua Hospital, Email: alessandra_biffi@dfci.harvard.edu

  • Dr. Annette Bley,  Neuropediatics and Palliative Medicine University Children’s Hospital University Medical Center Hamburg, Email: abley@uke.de 

  • Dr. Josh Bonkowsky, Bray Presidential Chair in Child Neurology, Chief Division of Pediatric Neurology
    University of Utah,  Email: joshua.bonkowsky@hsc.utah.edu

  • Dr. Timothy Cox - Addenbrooke's Hospital/University of Cambridge, United Kingdom. Email: jbg20@medschl.cam.ac.uk

  • Dr. Christine I Dali, University Hospital Copenhagen, Rigshospitalet, Department of Clinical Genetics, Denmark, Email: christine.dali@rh.region.dk

  • Dr. Florian Eichler - Department of Neurology/Leukodystrophy Program, Massachusetts General Hospital, Boston, MA, Email: feichler@partners.org

  • Dr. Maria Escolar - Director, Program for the Study of Neurodevelopment in Rare Disorders (NDRD), Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center: Email: maria.escolar@chp.edu

  • Dr. Francesca Fumagalli,  San Raffaele Telethon Institute for Gene Therapy (SR-Tiget), Milan, Italy, Email: fumagalli.francesca@hsr.it

  • Dr. John Hopwood, Adelaide Women's & Children's Hospital, Lysosomal Diseases Research Unit,, South Australia 5006, Australia, Email: john.hopwood@adelaide.edu.au

  • Dr. Krzysztof Kałwak,  Department of Pediatric Hematology/Oncology and BMT Wroclaw Medical University, Wroclaw, Poland, klin@pedhemat.am.wroc.pl

  • Dr. Ingeborg Kraegeloh-Mann, Eberhard Karls University Children Hospital Tübingen, Germany

  • Joanne Kurtzberg MD, Professor, Department of Pediatrics; Chief Scientific Officer, Robertson Clinical and Translational Cell Therapy Program, Duke University Medical Center, Email: kurtz001@mc.duke.edu

  • Dr. Paul Orchard - University of Minnesota - Inherited Metabolic and Storage Disease Bone Marrow Transplantation Program, Email: orcha001@umn.edu

  • Dr. Marc Patterson, Pediatric Neurologist, Mayo Clinic, Rochester, MN  

  • Dr. Vinod Prasad - Duke University, North Carolina - Pediatric Bone Marrow and Stem Cell Transplant Program, Email: prasa004@mc.duke.edu

  • Dr. Maria-Grazia Roncarolo - Chief of the Division of Pediatric Translational and Regenerative Medicine and Co-Director of the Institute for Stem Cell Biology and Regenerative Medicine, Stanford University, Email: mg1@stanford.edu

  • Dr. Tony Rupar, Director of the Biochemical Genetics Laboratory & Scientist Children's Health Research Institute, University of Western Ontario Canada, Email: Tony.Rupar@lhsc.on.ca

  • Dr. Maurizio Scarpa, MD PhD - Director of Institute for Rare Diseases at the Department of Pediatrics of the Horst Schmidt Klinik, Wiesbaden, Germany Email: maurizio.scarpa@brains4brain.eu 

  • Dr. Caroline Sevin - Pediatric Neurology and Endocrinology, Hôpital Saint Vincent de Paul, Paris,France, Email: caroline.sevin@inserm.fr

  • Dr. Martha Solano - Department of Neuropediatrics Fundacion Cardioinfantil - Institute of Cardiology Pediatric Hospital, Bogota Colombia Calle 163 AN° 13B-60 Bogota C/marca, Colombia - Sur América Expert center: (571) 3078118 

  • Dr. Paul Szabolcs  - Professor of Pediatrics and Immunology; Chief, Division of Blood and Marrow Transplantation and Cellular Therapies, Children's Hospital of Pittsburgh of UPMC  Email: paul.szabolcs@chp.edu

  • Dr. Jakub Tolar, University of Minnesota, Director, Stem Cell/Gene Therapies - Blood and Marrow Transplantation. Email: tolar003@umn.edu

  • Dr. Adeline Vanderver, Director of the Children's Hospital of Philadelphia Leukodystrophy Center, Jacob A. Kamens Endowed Chair in Neurologic Disorders and Translational Neurotherapeutics at Children's Hospital of Philadelphia (CHOP), Email: vandervera@email.CHOP.edu

  • Dr. Keith van Haren, – Child Neurologist and Assistant Professor of Neurology, Stanford University, Lucille Packard Children's Hospital, Email: kpv@stanford.edu

  • Dr. Amy Waldman,  Medical Director - Children's Hospital of Philadelphia, Leukodystrophy Center of Excellence, Email: waldman@email.chop.edu

  • Dr. Esko Wiltshire,  Metabolic Paediatrician, University of Otago, Wellington NEW ZEALAND  esko.wiltshire@otago.ac.nz

 

Special thanks to the MLD Foundation for this information.  

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What does it mean that MLD is a leukodystrophy (LD) and a lysosomal storage disease (LSD)?

There are 50 forms of leukodystrophy and 50 types of lysosomal storage diseases. Only a few disorders including MLD, Krabbe disease, Multiple Sulfatides Deficiency (MSD), and GM1 are considered both leukodystrophies and lysosomal storage disorders.  

 

Leukodystrophies are inherited neurological disorders that cause damage to the brain’s white matter (or myelin), while lysosomal storage diseases are inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body's cells as a result of enzyme deficiencies. There are nearly 50 of these disorders altogether, and they may affect different parts of the body, including the skeleton, brain, skin, heart, and central nervous system.

 

Combined together, LDs and LSDs impact 1 in 5000 people, making them more common than ALS or cystic fibrosis.  

Our doctor has recommended a feeding tube, this is so frightening, why do we need a feeding tube?

For late-infantile and early juvenile onset MLD patients,  the disease impacts the swallowing and eating first. MLD patients may have difficulty swallowing, suffer from gas, GERD (acid reflux) ,constipation, and ailments associated with the gallbladder which can impact digestion.

 

Because families are fearful of G-tubes,  they may put off this surgery. However, MLD families who put off using a G-tube typically regret the decision since G-tubes are an important tool for keeping their loved one healthy and effectively managing MLD.

 

Most medical teams recommend the use of G-tubes early in the diagnostic process.  G-tubes are an important tools for families since they help young patients receive nourishment and fluids,  avoid choking hazards, and ensure they receive their medications. Having a G-tube can avoid hospitalizations.  

 

  • G-tubes all will make it easier to care for your loved one and give you the flexibility to travel and attend school without the time spent slowly feeding a child who may not want to eat or struggles with swallowing.

 

  • G-tubes are surgically inserted into the stomach and you should work with your surgical team or home care nursing team to manage and care for G-tubes.

 

Check out this link to learn more about the care of G-tubes.

Can physical therapy help fight the disease and delay symptom onset?

Occupational and physical therapy can be important parts of living with MLD. However, MLD is not the sort of condition that can be delayed with such therapies.  Physical therapy, rehabilitative medicine and occupational therapy can help manage symptoms. However, for untreated patients, it will not be able to slow down the demyelination that causes the loss of mobility or speech.  

 

That said, MLD families report great success with aqua therapy. Being in the warm water, patients find they can move more comfortably and enjoy quality time with family members and caregivers. If you have access to the pool or an aqua therapy program, this is something to consider as part of your care plan.

Adult patients, on the other hand, will see the disease progress more slowly.  The impact on mobility, speech, breathing, and eating is usually much more gradual. To ensure that adult patients maintain their mobility and independence, occupational and physical therapy can be crucial for maintaining core body strength, preserving mobility, and assisting with communication.

 

Since MLD is a degenerative disease, it is difficult for therapists to write goals that satisfy insurance companies and it is challenging to access occupational and physical therapy. Alternative therapies could be personal trainers, aqua therapy, and horseback riding.  Adults with MLD say that it can be quite helpful to focus on therapies that allow them to interact with others and aid them with challenges in socialization/social interactions.

I would like information about treatment options and clinical trials. 

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This photograph of Oscar and Phelix Scott of Attleborough, Norfolk (United Kingdom) was taken on their 4th birthday in June 2019. The brothers were treated with gene therapy as part of the Orchard Therapeutics clinical trial in Milan, Italy. They were diagnosed at birth because of their older sister, Paige, who passed away from MLD in 2017.

How quickly will the disease and symptoms progress?

Each patient’s experience with the disease is different. 

 

The earlier the onset of symptoms, the more fast-moving the disease. Because the majority of MLD patients are young children, the disease progresses quickly for periods of time, impacting speech, the ability to walk and control their body and swallow.  After these periods of progression, the disease may stabilize for months, if not years. Typically, once patients show symptoms, this is a challenging time because the disease will impact the patient dramatically, and it is difficult to see a loved one who seemed healthy now struggle to do things they once did without effort.  

 

In juvenile and adult-onset MLD patients, the disease presents with psychiatric issues. It can be upsetting to realize that the behavioral problems were actually a genetic neurological disorder.

 

Generally speaking, once an MLD patient loses the ability to walk, speak, or move their hands, these abilities are not likely to return. While physical therapy is a crucial tool for maintaining the health and well-being of a patient, occupational and physical therapy will not alter the course of the disease for the untreated patient.  

 

Many families have found that is important to take advantage of a period of relatively good health in the early stages of the disease to travel and enjoy family activities together since, over time, as the disease progresses travel and other activities may become more challenging. In the US, for eligible families, (children diagnosed with MLD between the ages of 30 months old to 18 years old) may be eligible to work with Make A Wish. You can work with your hospital’s social worker to submit an application to Make A Wish.

 

Adult patients, on the other hand, will see the disease progress more slowly.  In the beginning, there may be changes in personality and behavior. Symptoms include loss of interest in normal activities and trouble doing schoolwork or managing tasks at work. Then, there are periods of stabilization. But, over time, the disease impacts cognition, memory, and relationships may become more difficult to manage. Some patients may abuse alcohol or drugs. It is important to work with a counselor or therapist to manage the psychiatric symptoms of MLD in adolescents and adults.

 

Over time, as communication and the ability to focus on tasks will be impacted, it is important to develop strategies to help patients stay connected socially and deal with these challenges pro-actively to help patients maintain a high quality of life.  Over time, adult MLD patients will see their mobility impacted, particularly a loss of balance and so dealing with the risk of falling is crucial.  

My loved one seems uncomfortable and the medical team has suggested so many medications. What should we do?

Given how quickly the disease progresses in younger patients, here are the typical list of medications leukodystrophy specialists suggest when managing the neurological symptoms of the late-infantile and early juvenile forms of the disease.

 

Adult patients may be more focused on therapies that help with cognition, memory loss, behavior, socialization, managing work and school. See guidance for Adult-MLD patients

 

  • Prilosec, Gas-X or other similar medications to treat GERD (or gastroesophageal reflux disease), and gas.

  • Gabapentin for nerve pain.

  • Baclofen for spasms, nerve pain and seizures

  • Valium for muscle tone and seizures

  • Senna for motility (to get the gut moving)

  • Keppra for seizure activity

  • Culturelle (an over-the-counter probiotic) to aid digestion and maintains balance of good bacteria in the intestine)

  • Hyoscamine reduces stomach cramps

  • Miralax, enemas, and suppositories for constipation and moving bowels.

  • Avoid opioids unless absolutely necessary since they cause more constipation.

 

Many families report that working with a nutritionist and medical team (including a complex care pediatrician) can ensure your loved one is getting proper nutrition, hydration, and moving their bowels regularly. Nutritionists who work closely with MLD families have had success using MCT oil, adding it to your loved one's diet can help with energy and weight gain.   Managing a healthy gut is crucial for MLD patients, you should also have your medical teams check your loved one's gallbladder checked regularly. It is not uncommon for doctors to remove the gallbladder because of polyps and other complications.

 

When your loved one vomits or has trouble keeping down feed, it is tempting to assume the problem is caused by the food they are eating. In fact, many “gut” issues are caused by constipation and gas. As one mom explained. “I was focussed on what we fed our daughter but when we worked with our nurse and nutritionist, we found she was so much better when we did a daily suppository, ensured she got lots of fluids, had her electrolytes managed, and just pooped every day. I was giving her valium and other medications and what she needed to do was poop and stay hydrated.”


 

We have not included CBD oil in this list. While some families believe CBD oil is helpful, at present,  there is no published medical research to suggest its effectiveness with MLD patients. Doctors report concerns about how CBD oil will interact with other medications and damage the brain when the disease is already doing so much harm to the myelin.  However, many MLD families work their medical teams to use CBD oil even though its effects are still not well understood.

What do I need to enroll in Medicaid? (For US families)

If your loved one is diagnosed with MLD, it is important for you to review your health insurance and what sort of care and services are covered.  Take note whether it is possible to see patients who may be “outside the system.” Pay attention to whether occupational and physical therapy will be covered and how to order medical equipment.  Be sure to work with a primary care physician who can help you write letters of medical necessity to justify the cost of such care to your insurance company.  In many cases, a leukodystrophy diagnosis will make you eligible for Medicaid or supplemental health insurance. Once an MLD diagnosis is confirmed, you should contact your state’s Department of Welfare to determine eligibility and apply for Medicaid.  States vary widely in Medicaid coverage and it can take some time to apply and get the supplemental insurance approved.  For families with earning below a certain income, you may be eligible for SSI or Social Security.  Some larger hospitals have a social worker who can help you with this paperwork. Cure MLD can offer some resources and support to assist you.

 

As you navigate the Medicaid journey it can be useful to work with a complex care pediatrician or primary care pediatrician who works with medically complex children to help file the proper paperwork.  To learn more about advocating for your child and Medicaid, you might find it useful to go to Family Voices and learn more about resources in your state.  Be prepared to be diligent, applying for Medicaid will be challenging.

 

Since each state has different policies and procedures for applying to Medicaid, check out the  website Kid Waivers to learn about the guidelines for your home state so you can get started.  States purposely make it challenging to enroll in Medicaid as a policy to discourage applications and save money.  It may take months to get enrolled.   Some families may even consider moving to a different state to get better coverage, this is not uncommon.  You can learn more about Medicaid by watching this video produced by Vox tilted "Why it's worse to be sick in certain states?

Our medical team has referred us to palliative care and hospice, why are they giving up on our loved one?

Palliative care and hospice programs are available to support the care of medically complex patients with life-limiting conditions.  For MLD patients, hospice and palliative care means you can receive nursing care and support in the home that is free to your family.  MLD families have spent years receiving such services. Be assured, your involvement in such programs does not mean your loved one is facing the end-of-life.

 

Watch this video to learn about how palliative care is an important resource for many MLD families like the Carr family.  (Trigger alert warning: If you are a newly diagnosed family, you may not want to watch a video featuring an untreated MLD patient in the advanced stages of the disease).

What is enzyme replacement therapy?

Enzyme replacement therapy (ERT) has shown tremendous promise in treating a number of lysosomal storage disorders like Pompe, Gaucher, Batten and Fabry diseases. Remember, MLD is a leukodystrophy and lysosomal storage disorder.  ERT is used to treat genetic disorders just like MLD where there is an insufficient amount of enzyme is produced. For the ERT, a functional enzyme is produced in the laboratory by cells that have been genetically modified. The cells are then harvested and the enzyme is purified before being given to the patient.  The treatment requires weekly infusions and a surgical procedure.   

 

The clinical trial - The Embolden Study- is an enzyme replacement therapy overseen by doctors at several locations in the US and overseas. At this writing, there is a site opened at Lurie Children's Hospital in Chicago, IL, and we expect more sites to open at the Children's Hospital of Philadelphia and the University of Utah, among other locations. Stay tuned for updates.  The treatment is not expected to be a cure. However, researchers hope it can slow down the disease’s progression and help patients preserve function and stabilize patients.   

Why is it important for my loved one to participate in the MLD natural history study?  

One of the most important things you can do to help the MLD community, advance research, and improve care for your loved one is to enroll in the MLD natural history study at the Children’s Hospital of Philadelphia. There is no cost or travel required, just fill out this short survey and you will grant permission for your loved one’s medical records to be shared. More than 100 patients are enrolled and our goal is 200.  Being in the natural history study is going to help you because it gets you access to some of the finest leukodystrophy researchers and doctors in the world. Fill out the survey form and someone will be in contact with you very soon.  

Will we be able to have more children? 

Yes, but we strongly recommend you consider using preimplantation genetic diagnosis or PGD.  PGD is a technique that enables couples with a particular inherited condition to avoid passing it a disease like MLD  to their offspring. PGD is similar to in vitro fertilization (IVF), with an extra step to check whether embryos are affected by a serious genetic disease.   To learn more, contact NYU’s Langone Fertility Center. The costs for PGD may not be covered by insurance, but, increasingly, payers recognize the importance of this technique to ensure the health of children within families impacted by MLD.  

You are not alone, please contact us and we will have a family ambassador contact you.

We will also send you and your loved one a special care package that includes Loie’s Disease, a children’s book to explain leukodystrophy to children, and the “Living with Leukodystrophy” medical resource guide.

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