Rare Disease Diagnosis: Years of Searching and a Sense of Loneliness

A rare disease diagnosis can come after years of searching. Guidance for patients and families on relief, grief, not being believed and feeling alone.

For some it is five years, for others ten, for others a search that has gone on since childhood. Files carried from one doctor to the next, from one city to another; sentences like "Your test results are clear," "It might be a bit of stress" or "They'll grow out of it." Then one day, perhaps after a genetic test, perhaps thanks to the careful eye of a doctor who knows the condition, the symptoms are given a name. For most people, receiving a rare disease diagnosis is both an ending and a beginning: the end of the search, but the start of a road they know nothing about. In this article I look at the marks a long diagnostic process leaves behind, the mixed feelings at the moment of diagnosis, the loneliness of "there's nobody like me," and how families can offer support along the way. The medical follow-up of the illness and all treatment decisions should always be made together with the doctors who look after you; what we will talk about here is the emotional side of this journey.

The Long Road to Diagnosis: The Marks Uncertainty Leaves

Many rare diseases can go unrecognised for a long time because their symptoms resemble more common problems. The emotional mark this leaves on a person is often as heavy as the illness itself.

Experiences that are common during a long diagnostic process include:

• Not being believed. Hearing "There's nothing wrong with you, you're overthinking it" again and again shakes a person's trust in their own body and perceptions.
• Being labelled as psychological. When unexplained symptoms are brushed off as "stress" or "anxiety," the person is left alone and also made to feel ashamed of asking for help. Of course psychological factors can affect the body; but this explanation should not replace medical investigation.
• Running out of hope and energy. Every new appointment brings hope, every inconclusive test a disappointment. When this cycle goes on for years, at some point a person may start to be afraid of hoping.
• Financial and time losses. In Turkey, travelling back and forth to specialist centres in the big cities, taking time off work and paying for travel and accommodation also strain a family's budget at a time of high living costs.

With rare diseases that begin in childhood, it is often the parents who carry this load. There are many mothers who say, "Everyone told me the child was just fussy, but I knew something wasn't right." The experience of not being believed that these mothers go through is not easily erased, even after a diagnosis has been made.

What Do People Feel After a Rare Disease Diagnosis?

The moment of diagnosis can bring far more complicated feelings than expected. Many people feel relief at first: "So I wasn't making it up." This relief is often mixed with guilt: "Why did I feel relieved at such bad news?" Yet relief is a very natural feeling at the end of years of uncertainty. The person is not glad about the illness; they are glad to be seen and understood at last.

After the relief, or at the same time, the following feelings may come:

• Grief. Learning that an illness is chronic means rethinking part of the future you had imagined. This is a loss, and it can be grieved.
• Anger. It is understandable to feel anger about the lost years, at doctors who did not take you seriously, at loved ones who said "You're exaggerating."
• Hunger for information, and overwhelm. Researching for hours as soon as you learn the name of the illness, and then becoming even more anxious with everything you read, is very common. I discuss this separately in the article on researching an illness online.
• A new uncertainty. With rare diseases information may be limited; even the doctor may say "We don't know" to some questions. Coming out of one uncertainty only to enter another can be exhausting.

None of these feelings is "wrong." Feeling glad one day and devastated the next is part of learning to live with a diagnosis.

Let us imagine a woman in her thirties who, after years of joint pain and fatigue, is diagnosed with a rare connective tissue disease. On her way out of the hospital she phones her mother and cries; but within that crying there is both fear and the relief of "I was right." The following week she struggles to go to work, because she now interprets every ache as the illness progressing. The ups and downs in this fictional example show how confusing the first weeks after a diagnosis can be. In this period, rather than making big decisions, many people find it helpful to break the day into small, manageable pieces.

"There's Nobody Like Me": A Sense of Loneliness

One of the feelings people who receive a rare disease diagnosis mention most often is loneliness. With common illnesses such as diabetes or heart disease, there may be someone nearby who has had a similar experience; with a rare disease, people are often met with blank looks when they say the name of their condition.

This loneliness is felt on several levels:

• Medical loneliness. There may be few doctors who know the disease well. Sometimes a person has to explain their own illness to a doctor.
• Social loneliness. Remarks such as "What does that mean?", "I've never heard of it" or "But you look well" make the person feel they have to explain themselves every single time.
• Loneliness within the family. If the family struggles to accept the illness or adopts a "let's not talk about it" stance, a person can feel alone even among those closest to them.

Meeting people or families who have received a similar diagnosis can ease this loneliness considerably. Patient associations and online communities give a sense that "there's someone who knows what I'm going through." Still, if the heavy stories shared in these communities are hard for you, limiting your participation or taking a break is also your right.

Having a rare disease does not mean you have to be alone; it only means it may take a little longer to find the people who are like you.

Rare Disease Diagnosis at Different Ages

When the person diagnosed is a child

Young children are interested less in the name of the illness than in the changes to their daily life: "Why are we going to the hospital again?", "Why can't I eat this food?" Short, concrete and honest explanations are enough. A sentence such as "One part of your body works a bit differently, and the doctors are helping you so they can understand it" is more reassuring than long explanations. Teaching the child the name of their illness also makes it easier for them to express themselves later on.

When the person diagnosed is a teenager

For teenagers, being "different" is already a sensitive matter. A rare disease can raise the question "Am I my illness?" at a time when a young person is forming their identity. Giving them the chance to learn about their own illness, to decide how much to tell their friends and to speak to the doctor themselves supports their autonomy.

When the person diagnosed is an adult

A diagnosis made in adulthood raises new questions in areas such as work, relationships and parenthood. If the disease is passed on genetically, worries about children and siblings also come up. Turning to medical resources such as genetic counselling for these questions helps manage anxiety with information rather than guesswork.

When the person diagnosed is older

Receiving a diagnosis in later life can sometimes deepen the hurt of "Why did nobody find this in all these years?" At other times an older person may prefer to brush the diagnosis aside rather than accept it. Instead of loading them with information, it is important to ask what they want to know and to respect their decisions.

What Should Family and Friends Say, and What Should They Avoid?

If you want to support someone close to you who has received a rare disease diagnosis, sentences like these can help:

• "If there were times over the years when I didn't believe what you were going through, I'm sorry. Now I want to listen to you."
• "Would you like to tell me about your illness? I want to learn from you."
• "Going to appointments must be exhausting. Shall I come with you next time?"

Sentences like these, on the other hand, can hurt without meaning to:

• "I'm always tired too, everyone's tired."
• "But you don't look ill at all."
• "I read online that this illness ends like this."
• "Try this herb as well, it did wonders for the neighbour's daughter."

Another common trap is constantly putting the patient in the role of "expert." People with a rare disease can grow tired of explaining their illness over and over to those around them. If you are curious, first getting some brief information from a reliable source and then asking, "Is what I read right? What's your experience of it?" reduces the load on the other person.

There is a particular sensitivity for parents too. A family whose child has received a rare diagnosis may often hear questions from relatives such as "Who did it come from?" or "What did you do while you were pregnant?" These questions deeply hurt parents who are already carrying guilt. A mother faced with such a question can steer the conversation by saying, "This is nobody's fault. The only thing we need right now is support."

Every decision about treatment and follow-up is made together with the doctors monitoring the illness. When relatives offer alternative suggestions about these decisions, it can leave the patient and the family confused.

Practical Suggestions for Living With a Rare Disease Diagnosis

Building a new routine after a diagnosis takes time. The following steps can make this process a little easier:

1. Create your own health file. Keep test results, reports, the names of your doctors and important dates in one place. This file eases the burden of explaining yourself all over again to every new doctor.
2. Go to appointments with a list of questions. With rare diseases, appointment times may be short and the questions many. Writing them down in advance reduces the regret of "I should have asked that too" once you are home.
3. Limit your time for looking up information. Doing your research from reliable sources at a set time of day protects you from the anxiety that midnight searching creates.
4. Allow yourself to grieve the lost years. Writing down your anger and hurt, or talking about them with someone you trust, stops these feelings from building up inside you.
5. Protect your identity outside the illness. Your hobbies, relationships and interests remind you that you are part of a bigger story than your diagnosis.

I discuss the general psychological load of living with long-term illness in a wider frame in the article on the psychology of chronic illness.

When Should You Seek Professional Support?

Sadness, anger and anxiety are expected reactions after a rare disease diagnosis. However, seeing a mental health professional may be helpful in the following situations:

• Deep hopelessness lasting for weeks, being unable to enjoy anything
• Constant checking, researching and building catastrophic scenarios about your health
• Anger about the lost years noticeably affecting your relationships and daily life
• Avoiding medical appointments or neglecting treatment follow-up
• Communication in the family breaking down because of the illness

Sometimes years of exhaustion can turn into thoughts such as "I don't want to live any more." If thoughts like these are going through your mind, do not carry them alone; share them with someone you trust, and in an emergency call 112 (emergency services). If depressive symptoms are marked, an assessment by a psychiatrist is also important.

How Is the Rare Disease Journey Addressed in Therapy?

Psychological support does not replace the medical treatment of the illness; but it can help in working with the marks left by the long road to diagnosis and with the process of adjusting afterwards. Topics commonly addressed in therapy include the hurt and mistrust created by not being believed, grief for the lost years, skills for living with uncertainty, and the balance between the illness identity and the rest of the person's identity.

Within a cognitive behavioural therapy (CBT) framework, automatic thoughts such as "Nobody will ever understand me" or "My life is over" are examined, and more balanced perspectives that fit the person's real experience are developed together. Behaviours that increase anxiety, such as excessive researching or avoidance, are also worked on.

In sessions with the family, parents' guilt, siblings' sense of being neglected and how the illness is talked about within the family can be addressed. Working with children through age-appropriate means such as play and drawing helps them express their questions and fears about the illness.

For adults, individual therapy offers a space where both the patient and the caregiving relative can make room for their own feelings. For people who live far from specialist centres or find frequent travel difficult, sessions can also take place online.

Frequently Asked Questions

Is it normal to feel relieved about getting a diagnosis?

Yes, it is very normal. After years of uncertainty, having a name put to your symptoms brings the relief of being seen and understood. This relief does not mean you are pleased about the illness.

Will the anger I feel towards loved ones who didn't believe me for years pass?

Anger usually softens over time, especially when your loved ones acknowledge what you went through. Rather than suppressing this feeling, expressing it at a suitable moment by saying "Not being believed hurt me deeply" can help repair the relationship.

How can I explain my illness to the people around me?

It helps to prepare a short explanation of your own choosing: "I have a rare illness, and on some days my energy is very low." You decide how much detail to go into depending on the person in front of you.

I can't find anyone with a similar illness, what can I do?

You can ask your doctor or the hospital's social work unit about patient associations. For some rare diseases there are national or international online communities. Until those connections are made, a loved one who listens to you or a mental health professional can also ease your loneliness.

• #rare disease
• #diagnostic journey
• #chronic illness
• #patient psychology

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Eda Erkan Alapala

Klinik Psikolog. İstanbul Kent Üniversitesi Klinik Psikoloji Tezli Yüksek Lisans mezunu; bilişsel davranışçı terapi, çocuk merkezli oyun terapisi ve çocuk-ergen psikoterapisi alanlarında eğitimlerini tamamlamıştır.

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