Lysosomal Storage Disease Program

Overview

The Center for Personalized Genetic Healthcare (CPGH) provides genetic counseling to individuals with a personal and/or family history of lysosomal storage diseases (LSDs). Our interdisciplinary team for children and adults with LSDs is dedicated to improving diagnosis, management and treatment of these disorders. 

What are Lysosomal Storage Diseases?

LSDs are caused by an accumulation of certain substances (called substrates) in a part of the cell called the lysosome. Lysosomes use proteins called enzymes to help break down or recycle many different substrates in the human body. If one of these enzymes does not work properly or is missing altogether, substrates are not broken down and accumulate in the lysosome. Over time, the excess storage of substrates damages the affected organ or body part, and LSD symptoms will occur.

Although there are more than 50 types of LSDs, these disorders are very rare and are often misdiagnosed or diagnosed many years after symptoms begin. Not all of the LSDs currently have good treatment options, but with research advances occurring all over the world, more and more treatment options are becoming available for these diseases.

What are some examples of Lysosomal Storage Diseases?

• Cystinosis.
• Gaucher disease.
• Fabry disease.
• Pompe disease (Glycogen Storage Disease type 2).
• Mucopolysaccharidoses.
• Lysosomal Acid Lipase Deficiency.

Our commitment to patients

Cleveland Clinic’s LSD team is devoted to practicing leading-edge medicine, providing comprehensive treatment and compassionately caring for all patients with these rare disorders. The team consists of healthcare providers of almost every medical subspecialty who are experienced with LSDs and understand that patients with LSDs often experience a long journey to establish the correct diagnosis. Because multiple organ systems are affected in LSDs, patients often see many different healthcare providers, which can be confusing and time consuming.

It's our mission to:

• Make the correct diagnosis with minimal delay.
• Start treatment (if available) as soon as possible.
• Provide comprehensive care under one roof.
• Provide genetic counseling and testing to people at risk to be a carrier for an LSD and patients affected with one.
• Communicate well with our patients and each other.
• Optimize care and make it easier for patients to manage their disease and to navigate the healthcare system.
• Provide access to ongoing research in the LSD field.

Our LSD team at Cleveland Clinic is devoted to practicing leading-edge medicine, providing comprehensive treatment and compassionately caring for all patients with these rare disorders.

Our Team

Pediatric Providers

Genetics

• Amy Shealy, MS, CGC

Cardiology

• Kenneth Zahka, MD

Gastroenterology

• Kadakkal Radhakrishnan, MD
• Vera Hupertz, MD

Hematology

• Rabi Hanna, MD

Nephrology

• Raed Bou Matar, MD
• Xiangling Wang, MD, PhD

Neurology

• Gary Hsich, MD
• Sumit Parikh, MD

Ophthalmology

• Elias Traboulsi, MD, MEd

Orthopedics

• David Gurd, MD

Pediatrics

• Julie Corder, CNP

Adult Providers

Genetics

• Angelika Erwin, MD, PhD
• Amy Shealy, MS, CGC

Cardiology

• Wael Jaber, MD
• Michael Faulx, MD

Pulmonary

• Loutfi Aboussouan, MD

Hematology

• Alan Lichtin, MD

Nephrology

• Richard Fatica, MD
• Xiangling Wang, MD, PhD

Neurology

• Ken Uchino, MD

What to Expect

Obtain a Physician Referral

Prior to requesting an appointment, you will need to obtain a physician referral. If you are a patient outside the Cleveland Clinic health system, please have your physician complete a referral form and fax it to 216.445.6935.

• Download Cleveland Clinic Referral Form

Collect Your Medical Records

Before your visit, please make sure to have a copy of the medical records from each healthcare facility where you/your child have undergone treatment, testing, evaluation, surgery or any other medical procedure. You may arrange to have medical records faxed (30 pages or less) to our department at 216.445.6935 or sent by postal mail to:

Amy Shealy, MS, CGC
9500 Euclid Ave., R4
Cleveland, OH 44195

• Release of Medical Information Form

It's also helpful to bring a list of your/your child's local medical providers to ensure that medical records from your Cleveland Clinic appointments are sent to the providers you would like to receive a copy.

Traveling to Cleveland

• The Medical Concierge service at Cleveland Clinic can assist out-of-state patients with their travel needs, including hotel recommendations, car rental, and other services.
• Other Lodging Information
• Maps and Directions

At Your Visit

We will provide personalized expert genetic evaluation, including counseling and education to you and your family. During your visit, you will see a genetics expert (genetic counselor and/or clinical geneticist) for a genetics evaluation. You may also be scheduled with, or referred to, other Cleveland Clinic or Cleveland Clinic Children's providers during your visit depending on your medical needs and physician availability.

Our comprehensive method for genetic evaluation involves:

• Diagnosis of a genetic condition through review of family and medical history, examination by a clinical geneticist, and if appropriate, genetic testing.
• Education about your specific diagnosis and any associated health risks if known.
• Suggestions for future medical care to optimize your health.
• Discussion of health risks to family members.
• Recommendations regarding genetic testing for at-risk family members and coordination of testing, if desired.
• If genetic testing is indicated, blood can sometimes be drawn on the same day following your appointment.

After Your Visit

It may take anywhere from a few days up to two weeks for your clinical appointment notes to reach the healthcare providers that you requested to receive a copy. We are also glad to communicate with your healthcare providers about your case as needed. You are always welcome to follow up with us with questions regarding your visit.

Locations

To schedule an appointment, please call 216.636.1768 or 800. 998.4785.

Main Campus

Center for Personalized Genetic Healthcare
Desk T10 (1st Floor)
View main campus map
Driving Directions

Costs & Insurance

Genetic counseling and testing are billed as two separate services:

Genetic Counseling

There currently is no charge for genetic counseling visits. Please note this policy is subject to change. To confirm the cost of genetic counseling visits, contact us at 216.636.1768.

Genetic Testing

If genetic testing is indicated, your genetic counselor will discuss costs and insurance coverage during your appointment.

Some patients are concerned that their genetic information may be used against them. To learn about your patient rights and protections in place to prevent genetic discrimination, read our article on the Genetic Information Nondiscrimination Act (GINA).

To learn more about billing options and financial assistance, review our billing and insurance information.