We are a family living with Fabry disease, a rare lysosomal disorder. I was diagnosed with Fabry when I was 50 years old. I had never even heard of it. We were offered genetic counseling and decided, as a family, that it was important to find out if any of our boys had the disease. This decision was made because there was an effective treatment available — had there not been a treatment then we may have made a different decision. And so after genetic counseling, blood tests and several weeks’ wait we got the news that our two youngest sons did indeed have Fabry disease.
Once the diagnosis was made, we were all referred to the Metabolic Team at the nearest specialist hospital unit. At the time of their diagnosis my sons were aged 15 and 19 years old. Jon (15) was at school, and Cal (19) was at University. Both struggled during these key years.
I do believe that the Specialist Teams do a good job overall — but they have limitations. What is severely lacking, in my opinion, is integrated mental health support, and support with living life once you have that rare diagnosis.
Numerous research reports have outlined the lack of support and the impact it has on individuals in the rare disease community. One such report from Rare Disease UK indicated that “only 1 in 7 respondents felt they received sufficient psychological support.” This same report highlighted that 56% had their education affected by their rare condition and an even higher 66% of respondents indicated their rare condition — or caring responsibilities — affected their ability to hold paid employment.
The transition from pediatric to adult care
Child Life Specialists, trained in the developmental impact of illness, provide valuable support and improve experiences with pediatric care. In the UK, children can access multiple kinds of care through pediatric services, but when a teenager or young adult transitions across, or enters directly into, adult services the extra help afforded to children is often missing. This, in my experience, is a particular issue for older teenagers and young adults.
From observing my own kids, and from discussions with other rare-disease parents both in the UK and across other countries, a few themes have emerged. In the rare disease community, older teens and young adults have to deal with the extra difficulties of learning to live with and manage their rare condition independently, as well as navigating the many issues of adolescence and developing maturity, too often without any extra resources.
So what can be done?
It is heartening to see some positive movement in the area of support for older teens and adolescents:
- A number of Specialist Centres in the UK are beginning to look specifically at this age group to see what extra services are needed.
- A number of groups have been set up by young people themselves to try and fill the gap in services, including Generation Patient and Rare Youth Revolution.
- The issue of mental health support is one that is taken seriously across the rare disease community with patient advocacy groups working tirelessly to improve services for all people with rare diseases.
- Some high-level changes are taking place at a policy level. For example, the UK Rare Disease Framework was published in January 2021 and outlined key priorities for rare disease diagnosis and management across the UK. Mental health support was highlighted within a section on wider policy alignment. This is a huge step forward for how rare disease is seen within the UK and it is reassuring to see the focus on the importance of the patient voice, shortening the journey to diagnosis, better access to treatment and the emphasis on research. However, whilst it is positive to see mental health mentioned, it is unfortunate that it is seen as separate to, rather than intrinsic to, Priority 4: Improving access to specialist care, treatment and drugs.
The issues with support for young people and for anyone with a rare disease are clear: When help is needed it is usually needed immediately. Time just increases the issues and these issues, just like the rare disease, do not go away. There is hope, however, that improvements in support for teens and young adults, as well as integral support for mental health, will improve with all the fabulous work going on within Patient Advocacy Groups across the world, as well as switched-on clinicians and policy-makers.
According to research, rare disease patients are at increased risk for mental health issues like depression and anxiety. Because this is known, care for rare diseases should treat this risk like any other associated risk and integrate it into care. In the case of a diagnosis of Fabry disease, mental health support should be incorporated into a care plan just as dates for your Enzyme Replacement Therapy (ERT) are scheduled in. In addition, upon diagnosis, resources for your school, college or employer should be readily available, along with information about patient advocacy groups that can provide invaluable support and connection.
Older teenagers and young adults should have their own additional services. These should directly address issues around school, exams, employment, friendships, puberty — basically any issue that would normally be faced by a young person, but with a particular emphasis on a young person with a rare diagnosis. Movements toward underscoring the importance of mental health, especially in patients transitioning out of pediatric care, have gained traction in recent years, but more work remains to be done.
Loretta MacInnes can be found @LorettaMacInnes and @MyFabryDisease. Her website is myfabrydisease.com