In 2023 I was a runner-up in the beacon for rare diseases and Medics4RareDiseases' Student Voice Prize competition. Through the patient pairing scheme I was linked to Cavernoma Alliance UK (CAUK) and had the pleasure of speaking to Charlotte, a patient advocate from the charity. Through Charlotte’s story I learnt about the uncertainty that people with rare conditions experience and the diagnostic odyssey they go on. Fast forward to Rare Disease Day 2026 and I am still in contact with Charlotte and we both continue to be involved in CAUK.

A brief recap on cavernomas:

Cavernomas are raspberry-shaped capillary malformations occurring in the blood vessels of the brain and spinal cord. When these press on the brain, or bleed, people experience a variety of neurological symptoms including seizures, headaches, and focal neurological deficits such as blurred vision, weakness and numbness [1,2]. Symptomatic cavernomas are rare, experienced by only 1 in 2,700 people [3]. 80% are sporadic, and the remaining 20% are familial (caused by a mutation in cerebral cavernous malformation (CCM) genes: CCM1, CCM2, and CCM3) [3].

Treatment is largely focused on the medical management of symptoms, however there are cases in which more invasive treatment options, such as neurosurgery (which Charlotte underwent) and stereotactic radiosurgery, are utilised.

Involvement with Cavernoma Alliance UK (CAUK):

Cavernoma Alliance UK (CAUK) is a small charity supporting those with cavernomas and their families by running a helpline, offering a buddying/mentoring scheme, providing information about important topics such as driving with a cavernoma, and funding research.

Since the Student Voice Prize competition, Charlotte and I have joined the CAUK advisory board and continue to be involved in CAUK’s important work. This includes reviewing the patient information support available on the website which covers a range of topics from flying with a cavernoma to weighing up the options of medical versus surgical management.

The challenge in deciding whether to proceed with surgery was particularly pertinent to Charlotte at the time that she opted for surgery:

“Charlotte’s surgeon had performed cavernoma surgery twice. For one patient the surgery was successful, however the other patient was left with significant morbidity.

Charlotte only had two options: undergo the operation and risk uncertain complications and cavernoma reoccurrence, or do nothing and continue to ‘live’ with poor quality of life and deteriorating mental health.”

To help support people in this decision making the ‘Cavernomas: A Randomised Effectiveness (CARE) Study’ was completed and published in The Lancet Neurology [4]. This pilot study aimed to establish whether treatment of brain cavernomas with medical management and surgery (using either neurosurgery or stereotactic radiosurgery) reduced the risk of a stroke compared to medical management alone [4]. The pilot study showed that it would be feasible to run a randomised controlled trial comparing surgery and medical management with medical management alone [4]. This is one example of the important research being supported by CAUK, with other areas of research in this field including the possibility of a gene therapy as a potential treatment in familial cavernomas [5].

An update from Charlotte:

Not only has Charlotte almost finished her PhD, but she is also supporting the Cavernoma Ireland voluntary support group and is a mentor on the CaverBuddies programme (a voluntary scheme led by CAUK where members give and receive peer-to-peer support, sharing their personal experiences and providing advice to newly diagnosed members or those in need of additional support).  

Patient Advocate Groups

My experience with the Student Voice Prize highlighted the importance of patient advocate groups. Not only do these groups drive forward research through funding and public and patient involvement, but they also provide invaluable support to those with rare conditions through the availability of peer-reviewed information and peer-to-peer programmes. Furthermore, these organisations are a useful source of information and support for clinicians and researchers.

Below are links for CAUK, Cavernoma Ireland and the European Cavernoma Alliance.

https://cavernoma.org.uk/

https://www.cavernomaireland.ie/

https://sites.google.com/cavernostangiomsverige.org/eca/home

 The Student Voice Prize is an excellent opportunity to learn about rare diseases through the lens of patient advocates with lived experience. 

 References

1. Flemming KD, Lanzino G. Cerebral cavernous malformation: What a practicing clinician should know. Mayo Clinic Proceedings. 2020 Jun 27;95(9):2005–20. doi:10.1016/j.mayocp.2019.11.005.
2. Tournier-Lasserve E. Orphanet. 2019 [cited 2026 Feb 22]. Orphanet: Familial Cerebral Cavernous Malformation. Available from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=221061&lng=EN
3. Cavernoma Alliance UK. Cavernoma Alliance UK. [cited 2026 Feb 22]. What is a Cavernoma - Cavernoma Alliance UK (CAUK). Available from: https://cavernoma.org.uk/what-is-cavernoma/
4. Eriksson M, Hayat R, Kinsella E, Lewis K, White DC, Boyd J, et al. Medical management and surgery versus medical management alone for symptomatic cerebral cavernous malformation (CARE): a feasibility study and randomised, open, pragmatic, pilot phase trial. The Lancet Neurology. 2024 Apr 18;23(6):565–76. Available from: https://doi.org/10.1016/s1474-4422(24)00096-6
5. Cavernoma Alliance UK. Cavernoma Alliance UK. [cited 2026 Feb 22]. Gene Therapy Research - Cavernoma Alliance UK (CAUK). Available from: https://cavernoma.org.uk/gene-therapy/