
Our Rare Story – FoxP2
Receiving a diagnosis can help bring clarity. In our recent blog we hear about a daughter who has been diagnosed with FOXP2 related speech and language disorder. We learn about the challenges that comes with this rare condition, and about the advancements in research and incredible organisations that are around to support people with this conditions.
FOXP2, literally one in a million!
My daughter was diagnosed with FOXP2 related speech and language disorder in 2017, age 9 years. That’s when the jigsaw pieces came together and we could finally begin to make sense of the variety of symptoms and challenges that this rare condition brings.
For us, the FOXP2 diagnosis explained three seemingly unrelated areas
- The low muscle tone (hypotonia), and inability to sit or fully crawl as a baby
- The poor eye contact and divergent squint
- The limited babbling as a baby, and speech that was unclear, even to immediate family, with no obvious reason for it
This ‘de novo’ or new genetic change in our family – a seemingly random genetic occurrence – has had life changing consequences for us all, and particularly for my daughter. Early intensive physiotherapy intervention resulted in fantastic progress, although her speech remains the significant challenge. The only treatment for Childhood Apraxia of Speech (CAS), confirmed at nearly 6 years of age, is high intensity Speech and Language Therapy following principles of motor planning, with repetition, repetition, repetition. CAS is a lifelong neurological speech condition.
Communication
Makaton was used to try and help with communication, along with a communication book. Now that she’s at a specialist high school, she has access to an AAC (Augmentative Alternative Communication) device, but she would still prefer to use her voice to communicate. She’s now had over 13 years in speech therapy.
Speech is ‘automatic’ for so many of us, and yet it is SO complicated. Childhood Apraxia of Speech (CAS) is a ‘disorder of speech motor programming or planning that affects the production, sequencing, timing, and stress of sounds, syllables, and words. All individuals with CAS – whether caused by an alteration of FOXP2 or of an unknown cause – have difficulties in automatically and accurately sequencing speech sounds into syllables, syllables into words, and words into sentences with the correct prosody’. (1)
The mental health impact from all the years of not being understood is evident. In our case, CAS also affects literacy, with a whole word approach used to aid learning to read. Spelling is still a struggle.
Yet, despite the challenges to communicate, I have never met a more determined young person who will endeavour to find a way to get their message across. The hours spent practising speech, to strengthen the neural pathway and automate speech, the willingness to have a go. You’d never guess at the physical challenges overcome if you saw her today.
Receiving a genetic diagnosis has given us the opportunity to connect with a wonderful team from The Murdoch Children’s Research Institute and University of Melbourne, which led to some significant speech progress for my daughter when combined Rapid Syllable Transition Treatment (ReST) and The Nuffield Dyspraxia programmes (NDP3) were trialled.
Research
Research has identified that CAS is a red flag for genetic cause, with 1:3 being due to a genetic change. Whether due to genetic, trauma, or unknown cause, there is relatively little known about CAS, with only 1:1000 of children in speech therapy having CAS.
FOXP2 was the first causative gene of CAS to be discovered in 2001. Incredibly, research over the last three years has identified over 30 genes that are responsible for CAS. (2)
Finding support groups online has put me in contact with amazing advocates; Mikey’s Wish and other families, who are working tirelessly to raise awareness of CAS in the UK. Support from Unique, who have free disorder guides on their website and a closed Facebook group for families.
Resources and support
#14daysofDVD, co-produced with The RCSLT and The Dyspraxia Foundation led up to Apraxia Awareness Day on 14 May in 2022. It is an exciting time in the UK for CAS.
Mikey’s Wish has hosted his second family conference this year. Mikey also co-hosted a parliamentary event with his MP Saqib Bhatti, The RCSLT, and Chris Kamara in October 2022 which was attended by Apraxia Kids, the leading charity on CAS. In 2024, Apraxia Kids set up a Facebook group for the UK.
The RCSLT have just published their updated position statement on CAS, which replaces the previous UK term of Developmental Verbal Dyspraxia. I hope this paper will bring positive change in our country for families with CAS. (3)
On Rare Disease Day, and beyond I would love other families and clinicians to ‘dare to think rare’, and be aware that a speech condition can be part of a bigger picture, and could even be part of a rare condition.
References
(1) NLM Citation: Morgan A, Fisher SE, Scheffer I, et al. FOXP2-Related Speech and Language Disorders. 2016 Jun 23 [Updated 2017 Feb 2]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Bookshelf URL: https://www.ncbi.nlm.nih.gov/books
(2) Molecular Psychiatry; https://doi.org/10.1038/s41380-024-02409-8
Genetic architecture of childhood speech disorder: a review
Angela T. Morgan 1,2,3✉, David J. Amor1,4, Miya D. St John1,2, Ingrid. E. Scheffer 1,5 and Michael S. Hildebrand 1,5
© The Author(s) 2024
Bio
- Parent of a child with a rare condition, FoxP2.
- Co-produced #14daysofdvd with The RCSLT and The Dyspraxia Foundation 2022
- Contributed to The RCSLT updated position statement on CAS, as a parent voice
- Patient Ambassador for Medics for Rare Diseases 2024