For Patients & Families
The information in this section is designed to provide information for patients with choroideremia and/or their family members.
What is the CHM Registry
The Registry is a collection of names and some basic contact information of all the men and women around the world who have CHM.
How Long will Sign-up Take?
Less than 5 minutes!
Will My Information be Shared?
All of the information provided will be treated as confidential and that under no circumstance will personal information will be shared with any other source, or third party.
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Free Genetic Testing through Project CHM
The Choroideremia Research Foundation is happy to announce that for a limited time, FREE genetic testing is available to anyone who has received a clinical diagnosis of CHM but has not undergone genetic testing. This has been made possible through funding by the CRF and a generous donation by PTC Therapeutics (www.ptcbio.com). Anyone interested in being part of a Clinical Trial or eventually being treated for CHM must have a Genetic Test confirming their CHM diagnosis.
To have free genetic testing performed through Project CHM, you can follow the following steps:
- Download the Project CHM Genetic Testing Voucher. The completed form will be sent with your patient’s blood sample.
- Complete the online request form at Carver Lab for your patient. For method of payment, select “Voucher”.
- Have a blood sample drawn and sent to the Carver Lab including the voucher.
- In an effort to increase insurance reimbursement for genetic testing, we are asking all Project CHM participants to submit their testing to their insurance company. Patients will receive an invoice from the Carver Lab marked PAID and should file this with their insurance carrier upon receipt.
- CRF is also asking all Project CHM patient participants to register with the CHM Patient Registry by clicking on your preferred language to register English, French, German, Portuguese, or Spanish– the Patient Registry takes less than 5 min to complete.
Physicians should receive results from the genetic testing within 3 months to share with their patients. If results have not been received within 3 months, please follow up with the Carver Laboratory.
If positive results are confirmed, as CHM is an inherited retinal disease, other family members should also be considered for testing.
Please note that the voucher expires on December 31, 2019. Subject to available funds, this program may be extended so feel free to check back after this date.
Project CHM is a collaborative program between the CRF and the Carver Laboratory at the University of Iowa to provide genetic testing for those affected with CHM. The Carver Laboratory is a certified non-profit laboratory that offers low-cost genetic testing for people with retinal diseases like CHM, and the CRF is proud to partner with them to assist people affected with CHM to complete genetic testing.
If you have diagnosed any patients with Choroideremia, it is important to have the diagnosis confirmed through genetic testing. A genetic test is typically performed on a blood sample and identifies the specific genetic mutation in the CHM gene. A positive genetic test with a mutation in the CHM gene provides confirmation that your patient has CHM and not another similar retinal disease. Genetic testing is mandatory for those who want to be enrolled in a clinical trial or other research study on CHM.
Free Genetic Testing through My Retina Tracker
Blueprint Genetics in partnership with the Foundation Fighting Blindness and InformedDNA offers the My Retina Tracker Program®, which is an open access, no-cost genetic testing program for individuals living in the United States with a clinical diagnosis of an inherited retinal degeneration (IRD). The program provides individuals with an IRD access to a 285 gene panel targeting relevant genes associated with IRD, including the difficult to sequence RPGR gene. As part of this program, there is no-charge genetic counseling through InformedDNA, the leader in counseling individuals and families affected by IRDs. Although it is not required for participation, this program offers an easy opportunity to join the My Retina Tracker Registry, which provides individuals the opportunity to contribute to research and the option to be contacted from the Foundation Fighting Blindness about relevant clinical trials. To get started, please talk to your doctor about the program.
The Choroideremia Research Foundation is a member-based organization – Membership is FREE, and open to any interested person. Membership is by household and covers all adult (18+) members of your household
Please join us today – we will keep you informed of recent updates in research and other news related to CHM. Information shared with us is confidential.
Patient & Family Support
For those living with CHM, whether it be parent, spouse or affected CHMer, there are several ways you can receive free support services. These are all great resources for you to get information and input from people who are walking the same path you are. To speak with another patient or family member directly, call or email the CRF at 800-210-0233 or email@example.com and we can connect you with a peer.
Email Support Group
To subscribe to the free email support group, send an email to: firstname.lastname@example.org
There are several closed Facebook Groups that may offer ways for you to connect with others in similar circumstances.
Please note: These links are provided for informational purposes. The CRF does not monitor content of these groups.
Choroideremia (CHM) https://www.facebook.com/groups/Choroideremia/
Choroideremia CHM for Understanding (International) https://www.facebook.com/groups/1388456481446308/?ref=bookmarks
Choroideremia Norway https://www.facebook.com/CHMNorthNorway/
Leben mit Choroideremia (German) https://www.facebook.com/groups/606431343168032/about/
Choroideremia Research Foundation Canada https://www.facebook.com/crfcanada/
Choroideremia Greece https://www.facebook.com/greecesopranochoroideremia.greece
Choroideremia Awareness https://www.facebook.com/Choroideremia-Awareness-133138336739037/
Choroideremia Moms https://www.facebook.com/groups/978428405667029/
Spouses of Choroideremia https://www.facebook.com/groups/784934478268986/
Coroideremia (Portugese) https://www.facebook.com/Coroideremia-164001050760710/
Asociación de Afectados por la COROIDEREMIA (Spanish) https://www.facebook.com/coroideremia/
CHM Moms for Each Other https://www.facebook.com/groups/334819910042088/
Living with CHM’s progressive vision loss brings with it challenges that can be mitigated or lessened by adopting some basic lifestyle changes. Below are some tips regarding choroideremia eye health and daily living that have been assembled by medical professionals and fellow CHMers. In this Toolkit, we will provide tips on:
If you would like to contribute a tip, please click here to email us.
Below are links to products that some of our members have found useful. This list is provided for informational purposes only. CRF does not endorse any of these products.
Cocoons Eye Wear https://cocoonseyewear.com/cocoons-polarized-fitovers
OrCam Wearable Assistive Devices https://www.orcam.com/en/
Solar Comfort Eye Wear http://solarcomfort.diopticssunwear.com/shop/solar-comfort-sunglasses/
Eschenbach Filters & Magnifiers https://www.eschenbach.com/products/absorptive-filters.asp
Freedom Scientific Low Vision Products https://www.freedomscientific.com/products/lowvision/
Humanware Accessibility Software http://www.humanware.com/en-usa/home
Computers for the Blind https://www.computersfortheblind.org/
Council of State Administrators of Vocational Rehabilitation https://www.csavr.org/stateagencydirectory
Retina International http://www.retina-international.org/our-members/