Practical advice

Introduction

Many people reading this page will have recently received a diagnosis of KDM5C disorder from their geneticist. This section is intended to be a practical guide, based on the experiences of others.

Few doctors will have seen another patient with KDM5C disorder before so tell them about this website. No one is a clinical expert in KDM5C disorder (yet) and as a rare genetic disease, there is no cure available at present. Each individual is impacted differently by the condition so, from a clinical perspective, the focus should be on managing the particular set of symptoms presented.

It is important to get the right developmental help as early as possible and all the treatments and therapies that are known to work - this website aims to signpost what these are.

Medical interventions

and therapies

For an infant, the journey towards a diagnosis of KDM5C disorder usually begins with a referral to a general paediatrician because some developmental milestones have been missed and / or the parents are concerned that something is not quite right. From an early stage, there may be some subtle signs, such as abnormal responses to reflexes or stiffness in the limbs, however, there are examples where parents' initial concerns were dismissed as excessive parental anxiety and they were told to adopt a 'wait and see' approach. The advice in this situation is to trust your instincts and, if necessary, seek a second opinion. Eventually the developmental delays become too pronounced to be ignored and further investigations take place. For example, delayed speech may lead to screening for hearing loss. When no obvious cause can be found, a diagnosis of unexplained global developmental delay may be made. The lack of a definitive diagnosis can be problematic when seeking medical, educational and social support, as well as leaving parents with many unanswered questions.

Enlightened medical professionals will turn to genetic sequencing to see if there is a mistake in a gene that could conclusively explain the symptoms. Initiatives such as the Deciphering Developmental Disorders and the 100,000 Genome Project have been at the forefront of this approach and have diagnosed KDM5C disorder in both infants and adults.

To provide an indication of which professionals may need to be involved in the care of an individual with KDM5C disorder, the following list is based on feedback received from families in the KDM5C Support Group Facebook group:

• General Practitioner
• Developmental Paediatrician
• Clinical Geneticist
• Child Psychiatrist / Mental Health Nurse
• Speech and Language Therapist - alternative forms of communication such as Makaton, see www.makaton.org and Mr Tumble, PECS and AAC devices may be of benefit to some.
• Occupational Therapist - a therapist trained in Sensory Integration may be needed
• Neurological Physiotherapist / Physical Therapist
• Consultant Ophthalmologist
• Consultant Neurologist - there is NICE guidance for the diagnosis and management of epilepsy
• Consultant Endocrinologist
• Sleep Consultant - in the UK there are several special sleep clinics, including the Evelina, London. Slenyto is a new slow-release melatonin formulation for treating insomnia in autistic children.
• Special Needs Dentist - in the UK the NHS operates community dental services for people with learning disabilities.

The level of special educational support needed will vary greatly between individuals. From a practical perspective, the level of challenging behaviour is likely to be a major factor in determining which educational setting is appropriate. Families with experience of extremely challenging behaviour have reported positive outcomes with schools that follow the ABA approach. Accessing special educational support can be a battle. In the UK, sites such as Special Needs Jungle and IPSEA are good sources of information for navigating the system.

Social care

Caring for an individual with KDM5C disorder can be physically and emotionally draining, especially when there are siblings involved. Some families will require social care assistance and in the UK, public bodies have certain duties to provide this. As the first step towards obtaining help, a social care assessment should be requested from the local authority. This podcast by Sinclair Law provides practical tips for parents when approaching social services. Charities such as Cerebra and Carers UK publish advice about what assistance is available and how to access it.

How to help with research

Scientists researching KDM5C disorder are keen to get in touch with families affected by it. The Iwase Lab at the University of Michigan operates the KDM5C Patient Registry to support research into potential treatments - please consider registering with this. Also please consider joining the KDM5C Support Group Facebook group as this provides a means for researchers to invite families to participate in surveys, studies and events. Also consider registering with sites such as MyGene2 and Unique.