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28th February is Rare Disease Day 2019, which is a day to raise awareness and improve knowledge of rare diseases. In Diagnosis: The Journey Ahead Part One, I discussed my son receiving a diagnosis of a microduplication of chromosome 16p11.2.
Information and Support
“Before receiving a rare disease diagnosis, patients felt they were not given enough information or support.” (Rare Disease UK. The rare reality: an insight into the patient and family experience of rare disease. London: Rare Disease UK, 2016)
Furthermore, EURORDIS: About Rare Diseases highlighted that:
“There are more than 6,000 known rare conditions. The vast majority of which have a genetic component.” (accessed 11th February 2019)
Care and Research
Firstly, it was exhausting repeating myself at appointments and local healthcare services. Secondly, the whole process was mentally demanding. Thus, I believe that rare disease patients need coordinated care and support.
I feel that I am a vital driving force in coordinating my son’s care. We have experienced a lot of back and forth within his care and uncertainty of who he should fall under. In addition to my son having a rare chromosome diagnosis, he is also autistic. Because of this, I must emphasize his chromosome diagnosis, stating that he is not only autistic. (diagnosis overshadowing)
Reading genetic case studies, flying to Switzerland for research when initially there was none conducted in the UK. Later, as my son grew older, I found out that there was a research project in the UK. Furthermore, a research team from Cardiff visited my son and conducted research.
Attending the Cambridge Science Festival and learning about the genome and genetic sequencing; and participating in over the phone research to America. (Well, no one can say that my life is boring). The research on my son’s chromosome diagnosis is well coordinated between the countries, but research projects need ongoing funding.
Living with a rare condition has an impact on mental health:
“95% of respondents with a rare condition had felt worried or anxious. 93% had felt stressed, and 90% had felt low.” (Rare Disease UK. Living with a rare condition: the effect on mental health. London: Rare Disease UK, 2018.)
I have made referrals, (in the past) to acquire mental health and well-being service support for my child. Thus, I would like to see priority and straightforward access to mental health services for people living with a rare condition.
Rare Disease Day Reception at Westminster
As a registered member of Rare Disease UK, I had the opportunity to attend the Westminster Rare Disease Day Reception.
People living with rare diseases and organizations who advocate for patients attended the event. This day was about coming together and being able to share an appreciation of each other’s experiences. I became more aware of other rare diseases such as Idiopathic Intracranial Hypertension (IIH). In addition, Guillain-Barre Syndrome (GBS) and undiagnosed genetic conditions.
One of the guest speakers, Mishal Dattani shared his experience of receiving several misdiagnoses. This was in the lead up of being diagnosed with Budd-Chiari. He also highlighted the mental health aspect of living with a rare disease.
Baroness Nicola Blackwood, (Parliamentary Under Secretary of State at the Department of Health and Social Care) spoke so elegantly about her diagnosis of Ehlers Danlos Syndrome (EDS). The Baroness highlighted a need for coordinated care, and empowering patients to be at the forefront to guide the UK Rare Disease Strategy.
Baroness Nicola Blackwood spoke about the 100,000 Genomes Project. This project consists of sequenced genomes from participating NHS patients with a rare disease and cancer patients. (Helping to pave the way for a new genomic medicine service).
Click on the following link to view the Rare Disease UK Rare Reality Report: Illuminating-the-rare-reality-2019.pdf (raredisease.org.uk)
If you would like to donate to Rare Disease UK, please follow the link below:
*This blog is for information purposes, and to raise awareness on Rare Diseases, (As part of the Rare Disease Day 2019 Campaign). I am a patient member of Rare Disease UK. I received no payment or any other commission for this post. It is at your discretion to donate.