FIRST & Foremost: Are You Ready to Meet with Your Rare Disease Doctor?


So, you’ve finally scheduled an appointment with a medical specialist that has specific expertise in your disease, but you have no idea how to prepare (or even that you needed to!) Our ichthyosis medical experts encourage us to tell our members that it is important to come to their appointment prepared. There are few doctors that specialize in rare disease, and they have a great interest in ensuring that when patients leave their office, they are equipped with everything they will need to cope with their disease from day to day.

At the FIRST National Family Conference in Indianapolis this past June, we sat down with Drs. Keith Choate and Philip Fleckman, two ichthyosis medical experts that are closely associated with FIRST, and asked them how patients could best prepare for their appointments. Here are some critical steps they discussed, that would not only apply to those affected with ichthyosis, but to those coping with any type of rare disease.

• Educate yourself as much as possible, beforehand. For those with ichthyosis and related skin types, the FIRST website is a wonderful resource with abundant information on both the clinical and emotional aspects of many types of ichthyosis and related skin types. Many rare diseases have advocacy groups or nonprofit organizations with online resources.
• Bring the affected person to the visit only and leave the rest of the family at home, if possible. This will help with concentration, focus, and ensure that you cover all your areas of concern. The more relaxed you can remain, the more effective the visit will be.
• Discuss the situation with your spouse, or family members, that will not be at the doctor visit. Write a list of their questions and your questions, so you don’t forget anything, and bring it with you.
• Write a summary, journaling what your experience has been since you or your child was diagnosed. Reach out to the doctor before the first visit, by either mailing, emailing, or discussing it with them over the phone. Let them know the exact genetic diagnosis if you have that information, symptoms, concerns, and specifically how your disease is affecting your lifestyle. Writing it down may also take some of the emotion out of the story, so you can remain focused, and also help the doctor to better prepare for the visit.
• Bring all blood test results, physician reports, photographs, etc. – anything that has been medically recorded from any doctor visit.
• Always remember there is a difference in what you read on the internet, and what the average experience might be. Many times the internet is filled with “worst case scenario” stories. At your visit, discuss the things that scare you with your doctor. He or she will be able to discern medical fact from hype and sensationalism, and provide more supportive stories, people and resources.

When it comes to this important and long awaited doctor appointment, don’t hold back on discussing anything that comes to mind, particularly issues that have made you uncomfortable. This visit is an opportunity to educate yourself and to give yourself peace of mind.

Learn more about Maureen and FIRST here.

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