Support with Genetic Counselling
At Alex TLC we can provide support to those experiencing difficulties sharing a diagnosis with their family. We understand the challenges and issues faced when having to communicate a result that may have a negative impact on loved one’s lives. We can use the information you give us to proactively develop a plan together for sharing a diagnosis. We can provide emotional support and advice throughout this time. There are numerous ways we can help you, which can include:
- support via email or zoom
- an explanation of the role of a genetic counsellor and how to be referred to see one
- being there to support you when you tell your family
- an easy-to-understand explanation of Leukodystrophy
We are there to support everyone, not just the person who has had the initial diagnosis. Although we cannot interpret genetic results, we can provide emotional support and advice alongside your consultant and genetic counsellor, if involved.
Alex TLC commissioned a study conducted by Jonathan Wells, an MSc Student in Genetic and Genomic Counselling, from Cardiff University School of Medicine. The study was to confirm the perspective of our community on the challenges of sharing a diagnosis. Although these findings were of parents with children receiving a diagnosis of ALD and men affected with AMN, the experiences would be similar for other types of Leukodystrophies.
There were three themes that were often associated with an individual receiving a diagnosis of a Leukodystrophy. These are:
The significant impacts of diagnosis: All participants recounted the diagnosis of Adrenoleukodystrophy (ALD) to be a life changing experience. For many it was the point at which their world turned upside down and their goals and priorities changed. The diagnosis was described as a period of compounding stressors which took participants to their lowest point. Taken together, feelings of shock, denial, guilt, fear, uncertainty and loneliness produced a scenario of almost overwhelming grief.
Negotiating new roles and responsibilities: Despite these feelings, participants described having to negotiate the new roles and responsibilities that had been bestowed upon them. As the first recipient of new genetic information within their family, they often took the lead on informing their relatives of the diagnosis and protecting them from its potential impacts. However, most found this to be both a difficult and daunting task, and a range of factors influenced how they approached the situation.
Changing relationships: Following a diagnosis, relationships with friends and family often changed. For some, the period of adversity fostered growth and connection, while for others, the weakening of existing relationships added to the overall stress of the situation.
You can read the full findings of this study by clicking on the link: A qualitative study exploring family communication following a diagnosis of ALD
We can support you at Multi-Disciplinary Team (MDT) meetings, which are sometimes called Team Around the Family meetings.
At these meetings we help to ensure you are receiving the correct amount of support from the statutory services (Social and NHS provided services). We can also help with input into the Education Health and Care Plan (EHCP) for your child.
Our Support Services team can also help to advocate for you to ensure you receive the correct and appropriate amount of care and respite, ensuring that this is worked out on a needs-led basis rather than a generic Care Package.
We can advise you on the different benefits that are available and how any changes may affect you. We provide help and support in completing these often-complex forms. Disability Rights (hcan help you further and are experts in this area.
We can arrange to visit you at home. This can be very helpful, as a face to face meeting provides support and reassurance whether you have just been diagnosed or need some extra help after having been diagnosed for some time.
Visiting you at home can be especially useful if you have any problems knowing which equipment can best meet your needs. We can arrange to meet your Occupational Therapist and or physiotherapist at the same time.
Finding a Specialist
We can help you to find a specialist who knows about your condition. We have a panel of experts who we work alongside to ensure you can access the most appropriate medical care.
Equipment & Services
We have compiled information about the equipment and services you may need to care for yourself or your loved one. There are two sections, one for those with symptoms and one for people without.
We can help you get the most appropriate education for your child, this may be due to your child being newly diagnosed or when your child is moving to a new school or starting college. We can provide help and information to the school or college to help them understand your condition and how best to give support.
We can run workshops for school staff to help them to understand the condition and how it affects the person’s daily life.
We often find that when people are diagnosed with a rare disease the unknown can be difficult for those who care for your child in a wide range of settings. Giving providers easy to understand information with a chance to ask questions can be beneficial to all involved.
Transition to Adult Services
This can be a very difficult and scary time for families, as relationships and trust you have built up with doctors and children’s services will change. We provide advice, information and support through the transition from child to adult services.
Transitioning from Children’s services to adult should start around the age of 14 and all professionals involved with the care and support of the young person should start thinking about how to smoothly transition. In healthcare this transitioning normally takes place at the age of 16, however some doctors will continue to see the young person until they are 18, this should be checked with the individual doctors and hospitals.
For those still in education the transition to adult care services is at the age of 18. Most County Councils have a team who support transitions and is included within the 0-25 framework, this is to provide continuity between children’s and adult services.You can find out more about transitions from the National Institute for Health and Care Excellence (NICE) who have produced a guideline (detailing how transitions should work.