One of the key facts of Inherited Metabolic Disorders are that they are inherited and part of your genetic makeup. When you discover that you or your child has an Inherited Metabolic Disorder, you may look into genetic testing to see if you’re a carrier of the condition and how this might have an impact on a future pregnancy. Here we’re giving a quick introduction to Genetic Counselling and how you might benefit from this.
What is Genetic Counselling?
Genetic Counselling is a service offered to people who are, or who may be, genetically linked to an inherited condition, including:
- Anyone diagnosed with a rare genetic disorder and their families.
- Expectant parents undergoing prenatal testing.
- Adults looking to learn more about their risk of inheritance.
Genetic Counselling is available prior to genetic testing as well as during and after the test, to ensure that the process is fully explained and understood, and to provide a safe place to discuss feelings, thoughts and ideas. When accessing Genetic Counselling, everyone is different. Each person has their own worries and concerns, their own reasons for attending, and different family dynamics to consider. The Genetic Counsellor will provide empathy and understanding, and remain impartial throughout the process, to enable you to discuss your emotions as you learn more about the tests available, the risks of inheritance, and any results and their implications.
What should I expect from my appointments?
During a Genetic Counselling session, the Genetic Counsellor will try to gain an understanding of your family history, including any history of medical problems and specific conditions within the family, which will help identify the risk of inheriting a condition. This section also helps the Genetic Counsellor understand your relationships with other family members.
The Counsellor will discuss any current understanding that you may have about inheritance. You will be introduced to the Genetic Counsellor’s interpretation of your family’s medical history, and inheritance patterns may be explained to you through drawings or diagrams, to help you understand the facts. They will answer any questions and concerns that you may have as well as 
discussing how you may feel about this information.
They will discuss any genetic testing that may be available and will fully explain the process to you. A genetic test inevitably causes anxiety and can be stressful, especially whilst waiting for results. The Counsellor will discuss your feelings with you and help you make sense of your thoughts and concerns. They will also signpost you to any resources which may help you.
If you receive a positive result, the Counsellor will talk through your reaction to this news, explore your feelings, and discuss this with you. They will provide you with plenty of information and support to empower you to make informed choices and feel able to talk to other family members. If your result has shown that you are likely to develop the condition later in life, the Genetic Counsellor will help you adjust to this and make sense of any required steps to monitor and manage the condition.
It is the role of Genetic Counsellors to ensure that you have fully understood the inheritance patterns, genetic testing process and the result, and that they provide a safe space to discuss concerns and worries. At the Metabolic Clinics, you will often find Genetic Counsellors who specialise in Metabolic conditions, and who work as part of the multidisciplinary team involved in your, or your child’s, care.
This video from the Genetics Education Programme at Health Education England provides an introduction to the role of Genetic Counsellors: https://tinyurl.com/y4t4ueqe
If you would like more information on Genetic Counselling or some advice on whether it would be beneficial to your care, please contact our Core Services team on contact@metabolicsupportuk.org or 0845 241 2173.
Musgrove Park Hospital in Somerset to Guys St Thomas’ Hospital in London by the Children Acute Transport Service (CATS) team. It was a very distressing time for the whole family and we were told to prepare ourselves for the worst, as they honestly didn’t think Tayla was going to pull through. We were there for 3 weeks until one doctor came on duty and ran some tests for a Urea Cycle Disorder, and that’s when we were given the news that she had 
Tayla even decided she wanted to go as the word medication for World Book Day, so she could show all her friends exactly what she needs to keep her liver working properly.”
community in their local areas, enabling us to reach many more patients and families. They are also helping us spread the word by raising awareness and fundraising.
Our 
marathon runners and their commitment to train, run and fundraise in support of Metabolic Support UK, whatever the weather!
“There’s no doubt, I was born to be a runner. I enjoy it. I like the thrill of getting out with the dogs in the crisp winter air, feeling invigorated as I pilot new running routes around the Cotswolds. The only thing, which really frustrates me, is when my Garmin has no signal, causing me to jump frantically up and down like a frog on a lily pad, so I don’t lose momentum. Yes, admittedly, I am now one of those people, who I used to look at and despise. This was usually from the confines of a pub, watching the vibrant streak of lyrca whizz pass the window
marathon runners and their commitment to train, run and fundraise in support of Metabolic Support UK, whatever the weather!
Who 
of London for the London Marathon! We are always in awe of our incredible marathon runners and their commitment to train, run and fundraise in support of Metabolic Support UK, whatever the weather!
community together to fundraise for Metabolic Support UK and to celebrate the life of Anna, their daughter, who very sadly died of GM1 Gangliosidosis, aged 1. They organised a classical concert music, which proved to be a huge success, as Sarah, Anna’s Mum, explains.
The concert was a rip-roaring success both from the turnout and from the feedback given on the night and since the concert. With family and friends spread far and wide, we knew not all would be able to come. So, alongside the concert, we also ran a Just Giving page to provide an opportunity for some of them to contribute. This was a brilliant idea! We raised £660 through our Just Giving page alone! With the money raised on the night and other donations received, we have raised a staggering £3,018.22! As a family, we couldn’t be prouder of this achievement and all for a cause so close to our hearts.
5. Do you have a favourite running route?
of London for the London Marathon! We are always in awe of our incredible London Marathon runners and their commitment to train, run and fundraise in support of Metabolic Support UK, whatever the weather!
We hope your training continues to go well Mike!
2. Raise Awareness
Connecting People
