Golisano Children’s Hospital of Rochester

Core Team

About the Center

The LCC at Golisano Children’s Hospital in University of Rochester Medical Center (URMC), our goal is to provide personal and excellent care to families touched by inherited leukodystrophy disease. For some this might be a Newborn Screen that only requires follow up testing, for others it may be the appearance of worrisome symptoms or an atypical finding on an MRI that needs further, specialized diagnostic testing.  Still others may already have a diagnosis and are looking for providers who are familiar with these rare conditions and can help manage symptoms, anticipate things you haven’t thought of yet or navigate the healthcare, insurance or education systems to meet your child’s needs.

To that end, we work as a multidisciplinary team. Within Child Neurology, where the LCC is housed at URMC, the core team includes a Child Neurologist (with special interest in leukodystrophy), a Neurogeneticist, a Pediatric Nurse Practitioner, a Registered Nurse and a Social Worker. Beyond that, we work in concert with other specialty practices at our institution specific to your child’s needs. This may include Pediatric sleep specialists, pulmonologists, feeding team, speech therapists, endocrinologists and others to ensure your child receives the care s/he needs. We are interested in maintaining your child’s ability to live as healthy and engaged a life as possible and we are here to help you achieve that – whatever it entails and however it changes over his/her lifetime.

Lastly, being a certified member of the Leukodystrophy Care Network you can rest assured that we are part of a larger, world-wide team of healthcare providers and researchers that seek to provide state of the art care to families facing the challenges of leukodystophy. As a broader group, we are actively working to establish and improve care guidelines and build a body of information on these rare conditions that will help guide treatments and care into the future.

Conditions Treated

Clinical care will be provided from initial concern, throughout childhood and until transition to adult care is completed.

The disorders the UR LCC follow include but are not limited to:

• Alexander Disease
• Canavan Disease
• Metachromatic Leukodystrophy (MLD)
• Krabbe Disease
• X-linked Adrenoleukodystrophy (X-ALD)
• Pelizaeus-Merzbacher Disease
• Vanishing White Matter Disease
• Megalencephalic leukoencephalopathy with subcortical cysts (MLC)
• Undiagnosed leukodystrophies

Appointments

Healthcare Providers seeking an urgent referral concerning a child in their care should call the office at 585-275-2808 and request to speak with either Nicole Walsh, NP or Dr. Robert Thompson-Stone. If for any reason they are unavailable, the referring physician should request to speak with the on-call attending. For non-urgent referrals of children to our Leukodystrophy Care Center, providers may fax referral information to our office at 585-275-3683. Please note on the referral that the concern is for a leukodystrophy or white matter disorder.

Patients and Families of children diagnosed with a leukodystrophy who would like to be followed in our Leukodystrophy Care Center can request a referral from their pediatrician and have their information faxed to our office at 585-275-3683. In addition, the patient or family may call our office at 585-275-2808 to let us know that a referral is being requested so we may follow up in a timely manner.

Location

Clinic Location
200 East River Road
Rochester, NY 14623
Phone number: 585-275-2808
Fax : 585-275-3683

Hospital Location
Golisano Children’s Hospital
University of Rochester Medical Center
601 Elmwood Avenue
Rochester, New York 14642

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