There are over 50 forms of leukodystrophy and 50 types of lysosomal storage diseases. Only a few disorders, including MLD, Krabbe disease, Multiple Sulfatase Deficiency (MSD), and GM1 are considered both. Leukodystrophies are inherited neurological disorders that cause damage to the brain's white matter (myelin), while lysosomal storage diseases are inherited metabolic diseases characterized by an abnormal build-up of toxic materials in the body's cells due to enzyme deficiencies. When you add them together, LDs and LSDs impact 1 in 5,000 people, making them nearly as common as ALS or cystic fibrosis.

For late-infantile and early juvenile onset MLD patients who have symptoms, the disease impacts swallowing and eating first. MLD patients may have difficulty swallowing and suffer from gas, GERD, constipation, and gallbladder-related ailments which can impact digestion. G-tubes 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 struggle with swallowing. G-tubes are surgically inserted into the stomach. Work with your surgical or home care nursing team to manage and care for them.

Yes. MLD patients develop precancerous polyps and the disease damages the gallbladder, so most MLD experts recommend the gallbladder's removal. Your specialist team can advise on timing.

If your loved one is diagnosed with MLD, it is important to review your health insurance and what care and services are covered. Once an MLD diagnosis is confirmed, contact your state's Department of Welfare to determine eligibility and apply for Medicaid. States vary widely in coverage and it can take time to get approved. For families earning below a certain income, you may be eligible for SSI or Social Security. Many hospitals have a social worker who can help with this paperwork. States purposely make it challenging to enroll in Medicaid — it may take months to get enrolled. Some families even consider moving to a different state for better coverage. Be prepared to be diligent.

Occupational and physical therapy can be important parts of living with MLD. However, for untreated patients, therapy will not slow the demyelination that causes loss of mobility or speech. That said, MLD families report great success with aqua therapy — patients find they can move more comfortably in warm water and enjoy quality time with family and caregivers. Adult patients will see the disease progress more slowly. Occupational and physical therapy can be crucial for maintaining core body strength, preserving mobility, and assisting with communication. Alternative therapies such as personal trainers, aqua therapy, and horseback riding can also be helpful. Adults with MLD say therapies that allow interaction with others and aid with socialization are particularly beneficial.

No. Palliative care and hospice programs support the care of medically complex patients with life-limiting conditions. For MLD patients, palliative care means you can receive nursing care and support in the home, free to your family. MLD families have spent years receiving such services. Your involvement in palliative programs does not mean your loved one is facing the end of life.

When your loved one vomits or has trouble keeping down feed, it is tempting to assume the problem is caused by food. In fact, many "gut" issues are caused by constipation and gas. Many families report success working with a nutritionist and complex care pediatrician to ensure proper nutrition, hydration, and regular bowel movements. Nutritionists working closely with MLD families have had success with MCT oil to help with energy and weight gain. Managing a healthy gut is crucial for MLD patients.

To learn more about our support groups and resources, sign up here and a representative of Cure MLD will reach out within two business days. We host support groups for families led by trained professionals. Cure MLD also hosts our annual MLD Community Meeting at the United Leukodystrophy Foundation Family Symposium in Chicago each year.