Advocating for yourself can be challenging. We are here to help.
Females with X-linked conditions face barriers to high quality health care. One barrier is that many medical professionals don’t know enough about X-linked conditions. They also might not know that females can have symptoms. When this happens, females with X-linked conditions often have to self-advocate (or speak up) to get the care they need and deserve. This experience can be frustrating and lead to poor health care outcomes, and oftentimes females are left with gaps in their care.
We’ve developed a guide to help you with these challenges. We hope to help you understand some of the obstacles you may face, provide tools to communicate your needs and concerns when speaking with your health care team, and empower you to speak up when you feel like your symptoms or concerns are not being addressed.
Facts & Stats
Historically women and girls haven’t been taken seriously in the doctor’s office and still today face barriers in accessing proper care and getting their symptoms recognized. For females with X-linked conditions, this issue can be compounded because most X-linked conditions were long thought to only impact males. Here are some facts and stats on health literacy, genetic literacy, gender bias, and our own survey results.
Our Survey Data
In a 2023 survey, our community said they feel overwhelmed (41.4%) and nervous (31%) when they meet a medical professional who doesn’t know enough about their condition. They also felt disappointed (31%) and unsatisfied (27.6%) with their care.
1 in 5 American women say they feel medical professionals ignore or dismiss their symptoms.
Latina and Black women report a higher chance of being discriminated against because of their gender.
9 out of 10 adults struggle with health literacy.
People of all races, ethnic backgrounds, and genders can have limited health literacy.
In a 2019 survey of primary care doctors, 10% said they have no or little knowledge of basic genetic concepts, and 61.5% said they have no or little knowledge of how or when to use genetic information when caring for patients.
These resources were created to help you explain your needs and concerns to your health care team. They can be accessed multiple times and downloaded and printed for your next visit.
This form can help you prioritize what you want to bring up to your health care provider. Use this to guide your appointment and help your health care team understand how your X-linked condition may affect you.
This form can help explain your symptoms to your health care team. Describe what you think is causing your symptoms, how you feel, what you know, and how you'd like your health care team to help.
This form can help you remember what to ask during your health care visit and help your health care team focus on what matters most to you. Note down your concerns of your X-linked condition.
Letter From MAB
This letter was written by our Medical Advisory Board members to be given to your health care providers to give context that females with X-linked conditions can have symptoms.
Speaking up to health care providers can be overwhelming. Using a number of common concerns and frustrations females with X-linked conditions face, we developed scenarios on how to approach conversations with your health care team.
“My doctor keeps telling me that my symptoms are not caused by my X-linked condition or that I am ‘just a carrier.’ What should I do?”
First, we want you to know that you are not alone. Many people in our community say this has happened to them, too. Second, there are a few reasons to explain why this may happen.
One reason is that medical professionals are trained to look for the most common cause of a person’s symptoms. When they think they have found this, they sometimes stop looking for other causes.
Another reason is that medical professionals use their education and research to help them make decisions. Unfortunately, they may have learned in their medical training that X-linked conditions only affect males. Also, medical research does not always demonstrate the ways X-linked conditions affect females. So, your health care provider may not know that your symptoms could be caused by your X-linked condition.
Either way, your provider should be willing to read more about your X-linked condition and consider it as a possible cause. They should also be willing to explain to you why they think it is not the cause of your symptoms. If your provider does not have a reason to give you, or you still disagree, it may be time to seek a second opinion.
“Medical professionals often tell me they do not know much about my X-linked condition. When this happens, it seems they expect me to teach them about it. How can I handle this?”
It can be frustrating when a medical professional has not heard of or does not know much about your X-linked condition – especially when you are in need of their care. One way you can handle this is by first thanking them for being honest. Then, you can firmly state what you would like to be done about the issue. For example, you may direct them to a specific resource. Or, you may ask them to read more about it before beginning your appointment. Here is an example: “Thank you for being honest. Please take a few minutes to read about it before we begin.”
"I'm nervous because I always feel like I say the wrong thing during doctor’s appointments."
Talking to health care providers can make people feel nervous, especially if they have had negative interactions with medical professionals in the past. Please know that it is okay to tell your provider if you feel this way. It is also okay to ask for more time to talk about what matters most to you. Some people like to take a trusted friend or family member with them to their health care visit. You may also want to write down your questions and concerns before you go.
"My doctors never believe me when I share my symptoms."
You may be experiencing something called “medical gaslighting”. This is when a person’s symptoms are downplayed or dismissed by a health care provider. It can also be when a health care provider tries to convince you that your symptoms are not as bad as you say they are. Here are a few tips that may help if this is happening to you:
- Trust yourself. You know your body better than anyone else. If you feel that something is not right, please know that you have the right to speak up.
- Speak up. Let your health care provider know that you feel unheard or dismissed. Simply stating your concerns may cause your doctor or nurse to reevaluate the way they are communicating with you.
- Keep a symptom journal. Write down the symptoms you experience in a notebook or journal. Be sure to include the date and what you were doing when your symptoms started. Try to describe your symptoms in as much detail as possible. It is also a great idea to write down how your symptoms affect your daily life.
- Seek a second opinion. If you still feel ignored or like your health care provider does not believe you, it may be time to seek a second opinion. Here is an example of what you can say to ask for a second opinion: “I am uncomfortable with the plan of care. I would like to be referred to a specialist or seek a second opinion.”
“My doctor asked me where to find information about my X-linked condition. Is there a website I can send them to?”
Yes! In fact, there are several websites that can support you and your health care team. One helpful website is the Genetic and Rare Diseases Information Center. It is run by the United States government. This website has up-to-date information on many rare diseases. And, if your doctor or nurse needs more information, he or she can speak with a Rare Disease Information Specialist through this website.
The tips below were provided by females with X-linked conditions from our Remember The Girls Facebook group. We recognize that all patients and health care providers are unique. What works for one person may not work for all. If you’d like to, you can submit your own tip.
Miranda McAuliffe, ALD
“The first step for me was finding my ‘go-to’ resource to keep bookmarked and printed. For me, it’s a clean and concise [web page] coming from a credible source. I print a copy, bring it with me to the doctor, and refer to it when mentioning my diagnosis.”
Beth Bauer, Myotubular Myopathy
“Treat it like a job and act like a professional even if you don’t feel like it. Someone who goes in and cries and sobs and says they’re overwhelmed is not going to get what they are looking for. If you want them to take you seriously, you have to act serious.”
Olivia Viola, ALD
“I come prepared to my doctor’s appointment with my family history. We think it started with my grandmother. I also mention my other relatives living with ALD as asymptotic carriers, those who currently have ALD/AMN, and those that passed from the disease.”
This project is sponsored by Horizon Therapeutics.
Connect with others like you in our Facebook support group.
Remember The Girls runs a private Facebook group with over 1,300 members impacted by more than 40 X-linked conditions and from more than 30 countries in the world. Join our online community of females impacted by X-linked conditions to seek and provide support, ask questions, find resources, and learn how to advocate.