Ikwu ọdịnaya

Mmemme Ndụmọdụ mkpụrụ ndụ ihe nketa

Genetic counsellors play a crucial role in guiding families through a genetic diagnosis and understanding how genetic conditions may impact their lives. We believe this role is incredibly beneficial for the EB community, as well as for both current and future genetic counsellors. Through this research, we aim to increase awareness of EB among genetic counsellors and address gaps in knowledge.

We were proud to support three students from Cardiff University in their research at the end of 2024 – March 2025, covering important topics where knowledge gaps exist. Input from our members has not only informed these projects but to also help improve support and resources for individuals and families affected by EB. Thank you to everyone who contributed to these research projects! Your insights have been invaluable in helping us better understand the needs of the EB community. These opportunities are now closed for participation, but we are excited to share the results with you soon.

Onye ndụmọdụ mkpụrụ ndụ ihe nketa nwere ogologo ntutu isi na-acha aja aja na isi isi awọ na-amụmụ ọnụ ọchị n'ihu mgbidi brik na-acha ọcha.

Helen Shepperson explored the experiences of young people with EB in UK educational settings, such as school, college, or university. To better understand how living with EB has impacted their educational journey, the different challenges and concerns faced, and what helps to overcome them. Helen managed to interview 8 different members to understand their own experiences.

Otu nwanyị yi uwe na-enweghị aka ojii, onye na-arụ ọrụ dị ka onye ndụmọdụ gbasara mkpụrụ ndụ ihe nketa, na-amụmụ ọnụ ọchị ka ọ guzo n'ime ụlọ n'akụkụ mgbidi.Catherine Silk explored how adults with EB manage multiple medications and how this impacts their daily lives. The study provided valuable insights into medication routines and challenges, and interviewed 6 members to understand their experiences. 

Onye nwere ogologo ntutu isi ogologo, ikekwe onye ndụmọdụ gbasara mkpụrụ ndụ ihe nketa, nọ ọdụ n'otu ụlọ oriri na ọṅụṅụ dị n'èzí nwere windo ugegbe, yi uwe elu na-acha ọcha.

Mia Keatings research explored how having a family member with EB influences the family planning decisions of the extended family, aunts, uncles, and cousins. Mia interviewed 4 members to understand their experiences.

A Huge Thank You!

We were able to engage with 18 participants in total who generously shared their experiences, helping to shape the future of EB research and educate the new generation of genetic counsellors.

 

Gịnị bụ Next?

We are currently analysing the results of these projects and look forward to sharing key findings with you soon. Member involvement has played a crucial role in shaping these studies, and we appreciate your time and commitment to advancing EB research. Stay tuned for updates! If you have any questions, please feel free to reach out to us.

We’re also excited to share that in the second half of 2025, we’ll be supporting another Genetic Counselling student on a new project! Stay tuned for updates as we continue to foster innovation and learning in the field.

Logo nke DEBRA UK. Akara ngosi ahụ nwere akara ngosi urukurubụba na-acha anụnụ anụnụ yana aha nzukọ ahụ. N'okpuru, mkpado na-agụ "The Butterfly Skin Charity.
Nzuzo Nzuzo

Ebe nrụọrụ weebụ a na-eji kuki ka anyị nwee ike inye gị ahụmịhe kachasị mma ọrụ. A na-echekwa kọntaktị na ihe nchọgharị gị ma na-arụ ọrụ dịka ịmata gị mgbe ị laghachiri na weebụsaịtị anyị yana inyere ìgwè anyị aka ịghọta akụkụ nke weebụsaịtị ịchọtara mmasị ma bara uru.