New diagnosis – what next?
After a diagnosis with a genetic condition such as CLCN4 it is normal to feel a whole range of emotions and parents often find adjusting to a new diagnosis a very challenging time of their lives.
It is important to know that you do not need to walk this journey alone. You can link up with other parents of children with CLCN4 through our Facebook support group so that you can share stories, and learn what has helped other children and their families.
Don’t walk your CLCN4 journey alone
It is also very important to know that although we don’t have a cure for CLCN4 right now, there is professional support available which will make a huge difference to your child’s future health, development and wellbeing. Early interventions such as speech, physiotherapy and occupational therapy will help with your child’s development and it is important that these are started as soon as possible. Therapies are available for many of the complications, such as epilepsy and mental health difficulties, that might develop. Early control of epilepsy can make a huge difference to your child’s development in the long run. To access the best advice it is important to find the right team of doctors and specialists to support you and your child: this may include such specialists as a neurologist, ophthalmologist, psychiatrist and orthopaedic specialist as well as a clinical geneticist.
Your First Step
As a first step connect with your GP or paediatrician and provide them with the link to this website and to the professionals page on our Human Disease Gene Webseries site: where they can directly connect up with our clinical and scientific specialists, Dr Emma Palmer and Dr Vera Kalscheuer.
Join our patient registry
CureCLCN4 has been set up to help support medical research to get better treatments, support and ultimately cures for all individuals with CLCN4. A key first step in helping us achieve those aims will be getting as many families with CLCN4 around the world as possible to sign up for our patient registry.
Patient registries can benefit people with rare genetic conditions like CLCN4 for three main reasons:
1. Patient registries can improve patient care.
We are building a secure, modern, digital patient registry where you will be able to tell your, or your child’s story. You will be invited to complete surveys that systematically capture the history, timing and impact of symptoms, and the impact of any treatments. Researchers will be ready and waiting to analyze that information and feed this back to our community, to help us learn together more about which treatments get the best results and in which situations. The more we share, the more information will be available to ultimately help our children and others to come.
2. Registries amplify your voice.
Our registry will also ask you to give your point of view on important matters about you or your child! For example, asking for your view on which symptoms are most important to find treatments for, or which existing treatments you wish there was better information on. Sharing your point of view is extremely powerful, because it helps research funding agencies, pharmaceutical companies, regulatory agencies and our patient organizations learn how to best meet your needs. Requiring researchers to listen to and serve the interests of the patient is becoming more and more common before funding can be won, or drugs can be approved.
3. Registries improve chances of drug development.
There is no way around it, drug development is hard, time-consuming and expensive. Drug companies are much more attracted to develop new therapies for rare disorder communities that already have rare disease registries with useful data. For example, we will ask if you would like to opt-in for information on new clinical trials, because knowing this will save drug companies a lot of time and money. Data and statistics from registry research are needed by drug companies in order to get government approval and funding for drug development, and eventually approval for new therapies.
We therefore encourage you to register your interest in our patient registry, which is currently being developed, and to opt into receiving information on future clinical research and trials here.