What are Lysosomal Storage Diseases?
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, substrate 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 Disorders?
- Gaucher disease
- Fabry disease
- Pompe disease (Glycogen Storage Disease type 2)
- Lysosomal Acid Lipase Deficiency
Our Commitment to Patients with Lysosomal Storage Disorders
Our interdisciplinary team for children and adults with LSDs is dedicated to improving diagnosis, management and treatment of the disorders. The team consists of health care 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 health care providers, which can be confusing and time consuming.
It is our mission to:
- Make the correct diagnosis with minimal delay
- Start treatment (if available) as soon as possible
- Provide comprehensive care under one roof
- 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.
- Amy Shealy, MS
- Amy Shealy, MS
- Alan Lichtin, MD
- Fran Bistrica, RN
What to Expect
Referral for Genetic Counseling
If your doctor has not already referred you for genetic counseling, please have them order a consult to genetic counseling if they are within Cleveland Clinic. If you are being referred from outside Cleveland Clinic, please have your doctor’s office call us at 216.636.1768 or complete a physician referral form and fax to 216.445.6935.
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 send a completed copy of the authorization for the release of medical information from other healthcare facilities to each facility and ask them to send records by fax (if 30 pages or fewer) to 216.445.6935 or postal mail to:
Amy Shealy, MS, CGC
9500 Euclid Ave. NE50
Cleveland, OH 44195
It would also be helpful to have a list of your local medical providers available to give the clinicians you are seeing so that your medical records from your appointments in Cleveland are sent to everyone you would like to receive a copy.
Traveling to Cleveland
To schedule an appointment, please call 216.636.1768 or 800. 998.4785.
Costs & Insurance
Cleveland Clinic has experience working with a broad range of insurance providers. We strongly recommend that you contact your insurance company prior to your appointment date to verify coverage. We are happy to write letters of medical necessity as needed to help you obtain coverage for visit costs.
Many insurance companies will cover 96040, which is the CPT code for genetic counseling. However, we do ask that you check with your insurance company to verify that your plan does cover the cost. If your plan does not cover 96040, please contact us at 216.636.1768 and we can discuss the proper payment arrangements with you.
If genetic testing is indicated, your genetic counselor will discuss costs and insurance coverage during your appointment.