Findings from the recent Rare Barometer Voice Survey, conducted by EURORDIS as part of regular surveys aiming to gather data on rare conditions through lived experiences, included important information from families living with FXS. 

Here is a report from FraXI based on the data collected from the survey. 

Demographic

9591 people living with rare conditions and their families were interviewed for the survey, representing 1643 rare conditions in 43 countries. Among them, 52 respondents were parents of children living with FXS (the majority were parents of sons). This report is on the FXS data collected.

First Signs and Diagnosis

Respondents reported that they first noticed ‘something’ before their child attained 2 years of age. On average, it took them 2 years to receive a diagnosis and nearly twice as long if the child was a girl. Respondents had to go, on average, to 2-4 doctors before a diagnosis was delivered. 

Genetic Testing, Referral Rate, and Accessibility 

Two out of three of all respondents required additional testing before receiving a diagnosis. While 80% said that unavailability was not an issue to access genetic testing, 36% said that they were not able to undergo genetic testing because healthcare professionals were reluctant or not sufficiently informed. Based on the data it can be said that there can be more than one reason why a family is unable to undergo genetic testing. 

On a positive note, however, the referral rate to specialised rare condition diagnosis or care seems to be increasing. More than half of the respondents said that their situation gradually improved after diagnosis as they had access to appropriate care and treatment. An overwhelming majority said that compared to previous years, general understanding of the rare condition had improved. 

However, the rate of referral differs depending on the region – the highest referral rate (70%)  came from Western Europe while Northern Europe had a referral rate of 30%. 

Misdiagnosis

Experiences with misdiagnosis were common: 7 out of 10 families said that they were given a wrong diagnosis at least once. Concerningly, all girls in the survey were misdiagnosed. It was also voiced that misdiagnosis deeply affected families’ emotional and psychological wellbeing, making them feel ignored and isolated. This also led to the delaying of proper care for the person affected with FXS. For some, misdiagnosis delayed eventual access to care; but for others, it went as far as making proper care impossible to access. 

Family History 

In FXS, it was found that having a known family history of the rare condition reduces the diagnostic time frame by an average of nearly 2 years. However, not knowing of a previously diagnosed family member not only delayed diagnosis, but also made it less likely for families to join advocacy support groups. As far as FXS is concerned in this survey, 75% of diagnosed girls came from a family with a history of the gene. 88% of diagnosed boys came from undiagnosed families. 

Supporting Families with FXS

The information gathered on the wellbeing of families living with someone diagnosed with FXS show that there is very little psychological support after diagnosis. Over half of the respondents felt that this impacted their perception of the diagnosis; many took the diagnosis in a negative light and this in turn affected their social lives. They also felt that the longer the diagnostic journey, the more neglected they felt. 80% of females in the survey reported that their psychological needs were not met. 

60% of the respondents received no financial support and all respondents said that even if they were given some financial relief, it was nowhere near enough to support females. Misdiagnosis was found to be linked with the increased lack of financial support. 

Discussion 

FraXI recognises this survey and others which offer families living with FXS a platform to raise their voice as crucial drivers of change in research and policy development relating to the condition. We now know that many families struggle with the journey to diagnosis and beyond. While obtaining a diagnosis is a hurdle in itself, there is also an additional obstacle of misdiagnosis. As the results show, the consequences of misdiagnosis come to light gradually and hinder access to proper healthcare and diagnosis while also affecting families’ emotional wellbeing. According to the opinions presented in the survey, those who had a family history of FXS experienced a shorter diagnostic journey and higher referral rates. Regional inequities further add to accessing effective diagnosis and treatment. Alarmingly, the diagnostic journey and access to care for girls appears to be more challenging than it is for boys. Financial support and psychological help offered to females and their carers were not sufficient. Although more and more individuals and institutions in FXS healthcare and research are educating themselves on the condition compared to previous years, there is still a lot to be done in terms of ensuring faster and more accessible diagnosis and equitable care and support. 

The Rare Barometer publication on all of the results of this survey on diagnosis is هنا.

FraXI encourages its members and their families to take every opportunity to use their voices in similar surveys which are recognised by the global community in rare conditions research. Life with FXS is understood best as a lived experience, and we need you to share yours with the world. Your viewpoint and individual experiences will be part of a transformative change in future FXS research and policy development. Your involvement in this change will guarantee that FXS is viewed in medicine, education, and policy as a condition that affects individuals simply because our world is structured in a way that ignores their needs, and not because they live with needs that are different to others. 

You can access the new Rare Barometer Survey, on What Helps People Live With A Rare Condition, هنا. The survey is available in 25 languages, worldwide, to all people living with a rare or undiagnosed condition and to their family members. It takes about 25 minutes to fill and closes on November 16th. It includes questions such as how people cope with daily stress, which support they can rely on, or how they manage to learn, work, and contribute to their community while living with a rare or undiagnosed condition.