Rare Disease Day

*This post is for information purposes and to raise awareness on Rare Diseases as part of the Rare Disease Day Campaign. I am a patient member of Rare Disease UK. I received no payment or any other compensation for this post.

 

Today, 28th February 2019 is Rare Disease Day, a day where people with rare diseases are celebrated as well as raising awareness and improving knowledge of rare diseases.

A Microduplication of Chromosome 16p11.2

Before my son was diagnosed, some people thought that I was over exaggerating about my son’s behaviour. Some presumed that it was just me not coping with being a parent. With my son being my first and only child, I fell under the category of you are a first-time parent so do not have a clue what you are talking about.

In my previous blogs: Diagnosis: The Journey Ahead Part One and Part Two, I discuss my son’s journey of being diagnosed with a microduplication of chromosome 16p11.2.

“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)

EURORDIS. About Rare Diseases highlights that: “There are more than 6,000 known rare conditions, the vast majority of which have a genetic component.”  (accessed 11th February 2019)

It took nearly a year to see a geneticist from my son’s initial diagnosis. During that time, I felt afraid as uncertainty is a scary place to be. A lot of support with regards to his chromosome disorder came from Unique.

Care and Research

It was exhausting repeating myself at appointments as the local healthcare services had no information on his disorder. I am actually surprised that it took me as long as it did to have a nervous breakdown. The whole process was mentally demanding. There definitely needs to be more coordinated care and support both for the individual and family after diagnosis.

I feel that I am a vital driving force in coordinating my son’s care. We have experienced and still are experiencing a lot of back and forth within his care and uncertainty of who he should fall under. In addition to my son having a chromosome disorder, he has a diagnosis of Autism Spectrum Disorder. Because of this, I have to emphasize that he has a chromosome disorder to ensure that whenever he is being assessed, everything is not labelled under ASD. It is also essential to focus on the duplication.

I am just a mother, not a doctor or a scientist. Reading genetic case studies, flying to Switzerland for research when initially there was none conducted in the UK. Later on, as my son grew older, I found out that there was a research project in the UK. 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 now participating in over the phone research to America. (Well no one can say that my life is boring). The research on my son’s disorder is well coordinated between the countries, but I have to outline that research projects need funding so cannot necessarily be ongoing.

It is through advancement in technology that my son’s duplication was identified. Without this, it would have been undetected. Furthermore, as more people are diagnosed with 16p11.2 duplication and his chromosome disorder will no longer rare, I will still raise awareness on rare diseases as I understand the journey it took in getting a diagnosis.

I want him to live photo

Mental Health

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.)

Previously and very recently I have made referrals to acquire my son support through a mental health and well-being service for children. My son sometimes feels like he is inferior to his peers, feeling as though he is not good at anything. He has said before that he has a stupid brain while hitting his head. I have difficulty in writing this, but it is necessary to raise awareness of the reality of the situation.

I do not want him feeling as though a shadow is overhanging him. There is so much to him as a person, and I do not want him to strive to be anyone but himself. Throughout his life, I have never seen him as a burden but a blessing. He has so much to offer this world, and I want him to understand that being different is ok. It is heartbreaking knowing that he is struggling internally. He has overcome so much adversity.

Yes, he has this diagnosis. It is a part of him but does not define him as a person. He deserves to be happy.

I would like to see priority and straightforward access to mental health services for people living with rare diseases.

Rare Disease Day Reception at Westminster

As a registered member of Rare Disease UK, yesterday I had the opportunity to attend the Westminster Rare Disease Day Reception.

People with rare diseases and organizations who advocate for rare diseases attended the event. This day was about coming together and being able to share an appreciation of each other’s journey. Through networking, I was able to become more aware of other rare diseases such as Idiopathic Intracranial Hypertension (IIH), Guillain-Barre Syndrome (GBS) and undiagnosed genetic conditions.

One of the guest speakers Mishal Dattani shared his experience of receiving several misdiagnosis 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). Her speech was so inspirational. The Baroness highlighted a need for coordinated care and empowering patients to be at the forefront to guide the UK Rare Disease Strategy.

A photo of Baroness Nicola Blackwood speaking at the Rare Disease Reception
Baroness Nicola Blackwood speaking at the Rare Disease Reception

Baroness Nicola Blackwood spoke about the 100,000 Genomes Project, which 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.

Let’s celebrate Rare Disease Day together. Here’s to the future!

Click on the following link to view the Rare Disease UK Rare Reality Report:

https://www.raredisease.org.uk/wp-content/uploads/sites/7/2019/02/Illuminating-the-rare-reality-2019.pdf

Audio Transcript:

Donation:

If you would like to donate to Rare Disease UK, please follow the link below:

www.raredisease.org.uk/donate/

 

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