The Department for Health and Social Care (DHSC) has been collating information and input from different sources with regards to the guidance that will come with the Down Syndrome Act. As the author of the Act, Dr Liam Fox has changed his rhetoric several times on whether or not this piece of legislation will include other conditions.
Several charities, including ourselves and Unique; have consistently asked for clarity. The DHSC has recently made the claim that “there are differences in the specific health, social care, and housing support needs of people with Down syndrome, compared to those with another genetic condition or a learning disability”. We all knew this to be untrue, so I decided to write a letter to Mr David Duguin MP (Chair of the 22a11 Syndromes APPG) and Lord Farmer, who have been championing against this law; about these so called differences in relation to Down syndrome and Cri du Chat syndrome.
The letter below was circulated to the coalition and from there it has been forwarded to Baroness Pauline Neville-Jones who thinks the points I made should be emphasised, especially on the point of discrimination, which Dr Liam Fox previously said “It is not about discrimination against those without Down’s syndrome; it is about the protection and promotion of those with Down’s syndrome” (March 12th, 2021).
Re: Down Syndrome Act, specifically, the claim from the DHSC that “respondents felt that there are differences in the specific health, social care, and housing support needs of people with Down syndrome, compared to those with another genetic condition or a learning disability”.
Dear David Duguid MP, Lord Farmer and all key stakeholders,
The quoted claim above, provided by the DHSC is wholesomely inaccurate. I enquire as to what medical professionals with a speciality in genetic conditions has actually consulted on this.
Cri du Chat syndrome, ironically discovered by the same Dr who discovered Down syndrome, can be used as one example where the similarities vastly outweigh the differences. It needs to be accepted by the DHSC and their stakeholders, that both these conditions, and many other genetic conditions and learning disabilities, operate on a spectrum of severity. These individuals must have bespoke care plans as a person with a severe Cri du Chat syndrome diagnosis will need vastly more care than someone with a mild Down syndrome diagnosis.
Health
Both syndromes may lead to developmental delay and an intellectual disability. Speech and language, mobility, growth, heart and other critical organ, continence, respiratory and gastrointestinal difficulties.
While Down syndrome statistically has a higher risk of leukaemia and Alzheimer’s disease, Cri du Chat syndrome has a statistically higher risk of seizures and respiratory infections.
In fact, individuals with Down syndrome have a milder form of intellectual disability than those with Cri du Chat syndrome.
They cannot state that those with Down syndrome have a shorter life expectancy than other genetic conditions because that number varies depending on the severity of the condition on that syndrome’s spectrum. Whereas advancement in medical care and treatment in Down syndrome has improved those the lifespan of individuals to 60 years of age compared to 47 in the 1980’s, the same medical advancement has only improved individuals with Cri du Chat syndrome to their early 40’s compared to only expected lifespan of 10-15 years of age.
Social Care
In order to support individuals with Down syndrome and Cri du Chat syndrome, there has to be a carefully curated support system of medical professionals. You will find that both syndromes require the support of a Paediatrician, Geneticist, Cardiologist, Endocrinologist, Ophthalmologist, ENT (Ear, Nose, Throat) specialist, Speech therapist and Physio therapists.
In fact, those with Cri du Chat syndrome tend to also need the support from a Neurologist and Otolaryngologist (a senior and vastly more experienced ENT specialist because individuals with Cri du Chat syndrome are at a higher risk of hearing loss, ear infections and sleep apnoea).
Housing Support
As a child, those with both Down syndrome and Cri du Chat syndrome may require housing support in the form of a special sleep quarters such as a safestyle bed, educational health care plans, counselling, social services, CAMMHS and a Team Around the Family. Individuals with these syndromes will typically be educated in a SEND school, although there is a larger percentage of those with Down Syndrome in mainstream education.
As adults, individuals with both syndromes may require employment support, especially with training, mentorship or financial. They need living and life skill support with both syndromes having a varying number of individuals able to live independently. Both require support getting to, and being involved in, social and recreational activities. In fact, statistically, more individual adults with Cri du Chat syndrome require the support of behavioural therapists and mental health support.
Furthermore, I have often spoke out about the legality of the Bill, never mind the Act. At the beginning, Dr Liam Fox brought forth a bill that is in direct violation of the Equality Act (2010), which reads: “Discrimination means treating a person less favourably than another person because of a protected characteristic that the person has or is thought to have or because of an
association with someone who has a protected characteristic.” (Section 13, Paragraph 1, Sentence 1).
By making the claim that a person with Down syndrome should have priority access to healthcare services, he has deliberately treated all other genetic disabilities and learning disorders less favourably even though they require the same, equal access to the services he is demanding, and as written in my letter here, in some cases a person with Cri du Chat syndrome may actually benefit from the priority care over a person with Down syndrome.
Mr Duguid MP, Lord Farmer; there was not enough debate in the House of Lords, nor Parliament, with regards to this Act and the ramifications it could have on others. I insist that you and your APPG take on board what I have written and use it to benefit the argument that at a minimum, the guidance that follows this act is inclusive of all genetic disabilities and learning disorders because empirical research and medical professionals clearly disprove the DHSC’s claim.
Thank you for your time, it is greatly appreciated by all.
Sincerely,
Martin E. Roberts
Chairman Cri du Chat Support Group
Sources:
- Balendra, R., & Cheetham, T. (2014). Down syndrome and ageing: implications for clinical care. Postgraduate medical journal, 90(1071), 463-467.
- Startin, C. M., Hamburg, S., Hithersay, R., Davies, A., Rodger, E., Aggarwal, N., … & Strydom, A. (2020). The development of a healthcare passport for adults with Down syndrome in the UK. Journal of Intellectual Disabilities, 24(2), 223-23
- Maini Rekdal, C., & Metcalfe, K. (2017). Health issues in Cri du Chat syndrome. Journal of community genetics, 8(4), 261-271.
- Maini Rekdal, C., & Metcalfe, K. (2019). Screening for health issues in Cri du Chat syndrome: A review of the literature. European Journal of Medical Genetics, 62(3), 190-195.
- Ballard, T. M., Acar, D., Connolly, J., & Flinn, J. (2013). Life expectancy of people with Down syndrome and its determinants in the UK: Analysis of the UK Medical Research Council’s General Practice Research Framework. The Lancet, 381, S57.
- Yang, Q., Rasmussen, S. A., & Friedman, J. M. (2002). Mortality associated with Down’s syndrome in the USA from 1983 to 1997: a population-based study. The Lancet, 359(9311), 1019-1025.
- Michaud, J. L., Lachance, M., Hamdan, F. F., Carmant, L., & Lortie, A. (2017). Cri du Chat syndrome: putting the pieces together. Expert review of rare diseases, 2(3), 131-146.
- Mainardi, P. C., Perfumo, C., Calì, A., & Coucourde, G. (2000). Clinical and cytogenetic characterisation of 13 new cases of 5p deletion syndrome. Journal of medical genetics, 37(3), 195-201.
- Startin, C. M., et al. (2020). Ageing in people with Down syndrome: a systematic review and meta-analysis. Journal of Neurodevelopmental Disorders, 12(1), 38.
- Cuskelly, M., et al. (2017). The transition to adulthood for people with Down syndrome: a review of the literature. Journal of Applied Research in Intellectual Disabilities, 30(5), 743-769.
- El Chehadeh, S., et al. (2020). Long-term outcome of Cri du Chat syndrome: a 36-year clinical and molecular retrospective study. Genetics in Medicine, 22(2), 408-415.
- Air, E. L., et al. (2019). Health Conditions and Care Needs of Adults with Cri du Chat Syndrome: A Case Series. Intellectual and Developmental Disabilities, 57(1), 33-44