87% of children with our rare disease face challenges with speech, language and communication.

On top of this, parents/carers are commonly also managing cardiac concerns, developmental delay, incoordination, decreased muscle tone, autism spectrum disorder, seizures, hypoglycaemia and attention-deficit/hyperactivity disorder.

When children fail to develop sufficient verbal speech for daily communication, caregiving becomes more challenging.

WHAT WE WANT TO DO

Our target goal of £16,000 will fund research focusing on understanding the speech and language abilities of children with this rare genetic disorder.

Your donation will:

• DELIVER inclusive and globally accessible gene-specific speech and language research.

• SUPPORT parents/carers and clinicians with clearer diagnosis, prognosis and treatment planning to help with the substantial impact on learning, education, social interaction, self-esteem, mental health, and daily living.

• INFORM speech and language outcome measures for future clinical trials.

• ADVOCATE widespread sharing of the research to maximise clinical impact worldwide.

Globally, no studies have examined speech and language problems for our rare disease using consistent methods or formal tests to clearly differentiate between various speech and language issues.

As a result, we don't clearly understand the difference between speech problems caused by issues with the muscles used for speaking (like speech apraxia) and those caused by problems with thinking and language skills.

With your help, our research can inform early intervention with the correct support empowering parents and clinicians, targeting specific speech and language therapies, and improving communication skills and overall quality of life.

Without accurate diagnoses, parents and clinicians remain unsure about which therapies to implement.

Your support gives a voice to these children struggling to communicate.

To learn more about our rare disease and its impact please visit https://timothysyndrome.org