Although I rarely mentioned about my skin disease progress and pretty lazy to apply moisturiser to soften my flaky skin. Doesn’t mean I’ve given up and just let It be I still hope & pray for miracles to happen on me. Except praying of course I take some action. Frequently google about my skin disease name that G.H doctor given me to see any new research founded or any experiment Is undergoing. Last 3 month medical check up at G.H. My doctor ask to take some blood samples and also some photo to send It to Singapore. Too bad the specialist in dermology I used to see her have shifted to SJMC so I kinda stuck with a newbies.
Sent few email to some doctor US. Here’s their reply:
Dear Ms. Tan,
You recently sent an e-mail to the Genetic and Rare Diseases (GARD) Information Center. You said that you are 21 years-old and you were born with a rare form of ichthyosis. Your doctors suspect it may be bullous erythroderma ichthyosiformis congenital of Brocq. You wonder if we could provide insight into your diagnosis and treatment options.
We are very sorry to learn of your skin and joint condition. We understand your desire to learn more about your condition and to find effective therapies. Because the Information Center is not staffed by physicians, we can not provide diagnoses or make recommendations for medical management; only a health care provider can provide this type of information. Still, we have identified information resources that you might find helpful. Also in response to your inquiry we have updated the bullous erythroderma ichthyosiformis congenital of Brocq disease page with information and resources. We modified your original question and removed any personal identifiable information. Our response is now posted on the GARD Information Center Web pages.
Visit the link below to view our response to your question.
http://rarediseases.info.nih.gov/GARD/Condition/1039/QnA/26132/Bullous_erythroderma_ichthyosiformis_congenita_of_Brocq.aspx
Visit the following link to view resources related to this condition.
http://rarediseases.info.nih.gov/GARD/Condition/1039/Epidermolytic_hyperkeratosis.aspx
In addition, the following information may be helpful as you seek a diagnosis.
Are there research programs available for people without a diagnosis?
Yes. If your health care providers and specialists have not been able to make a definitive diagnosis so far, participating in a research study or clinical trial may be another option. See below for a description of some of the National Institutes of Health (NIH) research programs that are going on now:
- In May 2008, the NIH launched the Undiagnosed Diseases Program, a clinical research program that aims to provide answers to patients with mysterious conditions that have long eluded diagnosis. This trans-NIH initiative focuses on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Maryland, by physicians across the nation. For more information about the Undiagnosed Diseases Program, go to: http://rarediseases.info.nih.gov/Undiagnosed. Physicians and patients with additional questions may call the NIH Clinical Center clinical information research line, at 1-866-444-8806.
- The National Library of Medicine at the NIH has developed ClinicalTrials.gov, a database accessible to the public through the Web. This database provides patients, family members and members of the public with current information on clinical research studies. You can search ClinicalTrials.gov for research studies looking at general categories of diseases and accepting individuals with out a diagnosis with the research goal of making a diagnosis. You can also contact the Patient Recruitment and Public Liaison (PRPL) Office at the National Institutes of Health (NIH). We recommend calling 800-411-1222 to speak with a specialist, who can help you determine if your are eligible for any clinical trials.
How can I learn more about clinical trials?
If you are interested in enrolling in a clinical trial, you can find helpful general information on clinical trials at the following ClinicalTrials.gov Web page
A tutorial about clinical trials that can also help answer your questions can be found at the following link from the National Library of Medicine:
Resources on many charitable or special-fare flights to research and treatment sites and low-cost hospitality accommodations for outpatients and family members, as well as ambulance services, are listed on the Web site of the Office of Rare Diseases (ORD), part of the National Institutes of Health.
Where can I find out more about how to find a diagnosis and cope with my undiagnosed condition?
To learn more about how to deal with genetic or rare conditions that have no definitive diagnosis, see:
Learning about an Undiagnosed Condition in an a Adult
Are there any advocacy groups for people with an undiagnosed condition?
Yes. See below for additional information and supportive resources for individuals with an undiagnosed condition and their families.
In Need of Diagnosis (INOD) provides help and support to individuals with undiagnosed conditions.
In Need of Diagnosis (INOD)
P.O .Box 536456
Orlando, FL 32853-6456
Toll-free: 888-894-9190
Telephone: 407-894-9190
Fax: 407-898-4234
E-mail: Meg@INOD.org
Web site: http://www.INOD.org
The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. The NORD Web site includes information on medication assistance programs and networking programs, a resource guide, and links to other online resources. You can get this information through NORD’s Web site or by calling or writing the NORD offices.
National Organization for Rare Disorders
55 Kenosia Avenue
PO Box 1968
Danbury, CT 06813-1968
Toll free: 800-999-6673 (voicemail only)
Telephone: 203-744-0100
TDD: 203-797-9590
Fax: 203-798-2291
E-mail: orphan@rarediseases.org
Web site: http://www.rarediseases.org/
The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals.
Who should I speak to if I have financial concerns?
It can sometimes take many years of specialized appointments and testing for a condition to be diagnosed, and this affects many individuals and families financially.
The Patient Advocate Foundation is a non-profit organization that serves as a liaison between families and their insurer, employer or creditors to resolve insurance, job retention and/or debt crisis matters related to their medical conditions. You can contact the Patient Advocate Foundation for further information.
Patient Advocate Foundation
700 Thimble Shoals Boulevard
Suite 200
Newport News, VA 23606
Telephone: 800-532-5274
Fax: 757-873-8999
Email: help@patientadvocate.org
Web site: http://www.patientadvocate.org
Are there organizations that can help with the cost of travel?
Yes. Traveling to specialized centers for testing and diagnosis can be costly; the following organizations help organize free travel for patients, once they are within the US.
Air Charity Network
4620 Haygood Road
Suite 1
Viriginia Beach, VA 23455
Phone: 877-621-7177
Online e-mail form: http://aircharitynetwork.org/ContactUs/tabid/201/Default.aspx
Web site: http://aircharitynetwork.org/
National Patient Travel Center
4620 Haygood Rd, Ste. 1
Virginia Beach, VA 23455
Toll-free: 800-296-1217
Phone: 757-512-5287
Fax: 800-550-1767
E-mail: mercymedical@erols.com
Web site: http://www.patienttravel.org
I hope this information is useful to you. We maintain an online resource page containing many of the tips provided above. You can check this site for regular updates by visiting the link below.
http://www.rarediseases.info.nih.gov/GARD/TipsForAnUndiagnosedCondition.aspx
If you have any other concerns, please contact us again.
Sincerely,
Sarah Church
Information Specialist
The Genetic and Rare Diseases Information Center was established by the National Human Genome Research Institute and the Office of Rare Diseases at the National Institutes of Health to provide responses to public information requests. Information Specialists are available Monday through Friday, 12:00 p.m. to 6:00 p.m. Eastern time (excluding Federal holidays), to respond to questions about genetic and rare diseases.
Telephone: 888-205-2311
TTY: 888-205-3223
Email: GARDinfo@nih.gov
Fax: 202-966-5689
Mail: PO Box 8126
Gaithersburg, MD 20898-8126.
Even If I really can’t find a cure In this life time.. I’ve doing my best to live life to the fullest.
Wish me luck on getting a good news In future… Hope miracle happens to me again…
