Part One: An ‘incredible difference’: how research can improve lives

For World Down Syndrome Day, we are introducing a 3-part blog series about the lived experience of a parent in the Down syndrome community. Living with three generations who have special health needs, Marie is a passionate advocate for the difference that research can make.

Marie has an older brother who has a congenital syndrome, and a three year old daughter with Down syndrome. Marie’s mother developed Alzheimers about five years ago, and Marie began to care fulltime for both her mother and her older brother.

In Part One, Marie speaks about the positive effects of research for her daughter, and how her daughter is defying expectations.

Part One: An ‘incredible difference’: how research can improve lives

When people hear that ‘research improves lives’, it sounds abstract. What does that reality look like in your family’s story?

Research is important and life-giving, and for me, it hits particularly close to home because of my sweet brother. He has a lifelong disability that affects him physically and intellectually. For years I have been in the dark about what my brother needed, although I was trying to advocate for him for a long time. It took another experience to open my eyes, helping me find tools that could make a difference.

I discovered at my daughter’s birth that she had Down syndrome, and I was devastated. In the moment I was replaying my brother’s life in my mind, worried that we would go through the frustrations and unknowns all over again. However, it has turned out very differently. It’s clear that she is not going to have the same level of challenges that he had, not by luck, but due to the research-based insights and interventions that are available now.

Does research actually improve everyday life for you and your family?

I am so encouraged by the difference it makes. Simply look at the life expectancy increase for children with Down syndrome: it has skyrocketed. Life expectancy used to be around 10 years at the start of the last century. Now it’s up to about 60 years old. That’s an incredible difference, and it happened through better knowledge and improved practices.

When I took my three week old daughter to the cardiologist to check her heart, the cardiologist reassured me that ‘now is a good time in history to have Down syndrome’, which was very comforting. Heart issues may be common, but health professionals usually know what to do to fix these problems. The cardiologist ran a number of tests to make sure that my daughter’s heart was okay, and after that she told me, ‘I never have to see you again: her heart is perfect’. My daughter is super healthy, and we are lucky that she doesn’t have heart problems – and we are also fortunate to have the peace of mind that comes from ruling out potential problems.

Recently my other two kids were sick, and my daughter with Down syndrome had a few symptoms, but amazingly, because we are focusing so much on her health and wellbeing, she actually does not get sick like the rest of the family. We don’t take that for granted: this year, many children with Down syndrome have been in hospital for respiratory issues recently. It is out of the ordinary that her health is so robust, and we think it is because the health interventions that we are adhering to are very effective.

She’s on a regimen of supplements, but they’re not blanket-prescribed. We give her specific supplements according to the results that show up on her blood labs, guided by research that shows what will be most effective for children with Down syndrome.

She has hypotonia but it’s minimal because she’s taking CoQ10 and supplements that help with muscle activation. She has a good working memory. A lot of speech issues are due to vitamin deficiencies, so we are being pro-active to help her speech development.

She just turned three years old and people are constantly amazed by her development, even compared to her peer group. She is defying many of the limitations that people would have set on her, given that she has Down syndrome.

All my daughter’s therapists have been extremely impressed by her, but we know there is a reason she is developing so well. We have been following the Doman Method and doing targeted stimulation exercises from the very beginning. When she was a little baby we did vestibular exercises, like swinging her around in different directions, pulling her around on a pillow, doing various exercises for balance, and it has really paid off. However, the therapists never directed us to do that, and I don’t know why, because the research on the effectiveness of these techniques has been out there for a while, and the Doman Method has existed for a very long time.

At this moment, at just three years old, my daughter can run, can do cross-country skiing, she can walk across a balance beam, she can swing from a bar – she has excellent balance, equal to a typically developing three year old. Many of her skills are age-appropriate for someone without Down syndrome, and she is ahead of her peers among those who have Down syndrome. Neurologically she is very close to her chronological age.

Amazingly too, she can read a lot of words! We were taught some techniques that have allowed her to begin recognising words from an early age.

Her occupational therapist told me that in 40 years of her being an occupational therapist, my daughter has made the quickest gains that she has ever seen made by anyone. She will teach her something one day, and the next day my daughter will remember it and be able to do it. I completely attribute that to the supplements that her doctor has given her for her brain and her cognition.

However, if this growth wasn’t happening, or if, for example, balance problems were showing, it probably wouldn’t be viewed as a red flag, because very few people would expect that it could be different. The baseline would be set much lower than she has shown she can actually achieve in reality. As a parent, I would probably have accepted a lower baseline too, without all the support I have received from people who have proven that the ‘normal range for Down syndrome’ is set – and then maintained – way too low. If I didn’t have all the resources I’ve been given right from the beginning, and if I wasn’t connected to the right people to inform me, I wouldn’t know any different.

My daughter is really happy and she’s thriving.  Knowledge is key: we know that she definitely has some issues that could be major setbacks, but the crucially important thing is that we also know how to intervene.

Do you find that the medical profession is aware of the recent research on Down syndrome?

Unfortunately, there is very poor general knowledge among medical practitioners about how Trisomy 21 can affect the body, which limits the likelihood of professionals diagnosing issues or preventing problems. We have been incredibly lucky to find a doctor who is diligent in following up on the most recent research. In our first appointment and at every subsequent one, through whatever we were dealing with, Dr Erica Pierson had links to published recent research articles to back up what she was recommending for us. She never glibly gave a vague or generalised solution: her recommendations were all evidence-based, on the back of research studies.

For example, with my daughter, it was identified that she has a specific issue that we need to monitor. She has very poor detoxification pathways, and has heavy metal toxicity due to the pH that is created within her body. She also has an alternative metabolic pathway that breaks down tryptophan into quinolinic acid, which is a neurotoxin. So, her body is creating a neurotoxin which would cause massive cognitive decline. This issue was identified by our doctor and we started counteracting the problem. If we didn’t have a doctor who was doing this research and aware of all the recent findings, my daughter’s cognition would be in decline, and I would never know what was causing it.

Many things that we write off as ‘Down syndrome’ are metabolic issues and biochemical issues, which can affect many typically developing people too. The good news that people often seem to be oblivious to, is that these issues and imbalances can be treated before they lead to serious problems. However, generally if a child starts to decline cognitively, most doctors currently still tend to conclude ‘we can’t stop that, because she has Down syndrome’.

As I think about the quality of my daughter’s life, it brings me to tears. If she did not have a doctor that took this research seriously, she would have a very different outcome. I know our actions now have prevented issues further down the line, and I’m so grateful to have access to this knowledge.

Upcoming: Part Two: “It could have been different”: advocating for more access to research

Legacy Giving: ‘Remember a Charity’ Week is 8th to 14th September 2025

This week, we’ll be putting legacy giving in the spotlight. ‘Remember A Charity’ Week is a great opportunity to think about the charitable work you support, and the causes you want others to know more about.

We would love if you would consider supporting the Down’s Syndrome Research Foundation UK, as gifts like this make a huge difference to the Foundation and allow us to continue our work.

For ideas on practical steps you can take, we have put together some information that you may find helpful. Another great resource, giving answers to Frequently Asked Questions on leaving a gifts in your will, can also be found here.

We are linking with Remember a Charity to promote this way of supporting charities. They have some excellent practical tools:

• You can write your will for free online using their partner’s services.
• Further, we can also share a benefit available to our supporters in this week: you can register your will for free this week at the National Wills Register using the code: RACWeek2025. Registering your will helps safeguard your final wishes.

You can also read some inspiring stories of people who have helped us in the past.

Together, we can truly achieve remarkable things (like launching the world’s first Down Syndrome and Sleep Research Network) – and we cannot do this kind of work without your support. Leaving us a gift in your will truly makes a difference.

Thank you for your help, in every way, big and small.

An open letter to MPs about the Assisted Dying Bill
from a parent in the DS Community

We have been encouraging people to write to their MPs about the Assisted Dying Bill before they vote on it for the final time, as it is quickly moving towards becoming law in the UK. The next debate at Report stage is due Friday 13th June. The 3rd reading vote is likely to be 20th June or even into early July.

When writing to your MP, your personal stories and insights matter more than you might know. A supporter who is a mother of a child with Down syndrome has shared this moving letter with us, which we are posting here. We hope it will inspire you to share your own story too with your own MP.

“Dear [Member of Parliament],

I am writing to you about the Terminally Ill Adults (End of Life) Bill introduced by MP Kim Leadbeater, and am asking urgently that you vote against this bill. I would like to share with you why it matters personally to me, and what worries me most about the direction we are headed in with this Bill.

When my daughter was born with Down Syndrome I was uncertain of what our lives would look like going forward. But I was certain that despite the surprise and adjustment of having a diagnosis at birth, it was better than having a prenatal diagnosis. Maybe I could have prepared better, or taken supplements proven to help babies with DS prenatally if I had known. But I also would have faced enormous pressure about the value of her life. The medical community proves over and over that it does not want people with Down Syndrome to live. A staggering percentage are not given a chance at life because they are aborted. The first thing expectant mothers are offered when they receive a prenatal diagnosis is an abortion.

This is a population of people that light up the world with their smiles, their joy, their kindness. Yet they had to beat the odds just to be born. But if they are lucky enough to be welcomed into their very lucky families, they are not welcomed so readily into society. I have to fight for my daughter to receive adequate medical care … there is nothing wrong with her, but the biochemistry of individuals with Down Syndrome is unique, and doctors often don’t want to take the time to research or educate themselves on the best care for this vulnerable population.

Now this precious group of people who actually survived past the womb despite persecution are facing the same persecution in adulthood. It is naive to believe that the very same medical community that is so reluctant to let them to be born wouldn’t be empowered by an assisted dying bill to do away with them when it’s convenient.

My little daughter is the heart and soul of our family … at two years old she has been fighting daily to make her milestones with the support and encouragement of her siblings. Her whole life she will have to work hard to keep up with her peers. But no one will surpass her in joy, in kindness, in generosity. But she should not have to fight at every stage of her life because of laws that make her vulnerable rather than protect her.

It is incredibly worrying that we are seeing a bill that doesn’t have any safeguards designed to protect people with Down Syndrome, and it doesn’t seem accidental. I am writing to ask you for the sake of many others like her, please do not give your support to this Bill. Please vote against it, because it will surely become another threat to the lives of people like my daughter.

Your sincerely,

Marie G.”

You can find out who your local MP is here:

https://members.parliament.uk/members/commons

Live Researcher Chat
Dying and End-of-Life Care Planning

We are delighted to announce that we will very soon have the opportunity to speak with guest researcher Professor Irene Tuffrey-Wijne, the world’s first professor of Intellectual Disability and Palliative Care (Kingston University London). We welcome you to join us on Wednesday 5th March at 6pm GMT for this live discussion between Professor Tuffrey-Wijne, and our Chair, Dr Elizabeth Corcoran.

End-of-life concerns are a sensitive subject, presenting realities that can be hard to think through and plan for. Very little research to date has been carried out in this area, especially with regards to people with Down syndrome and other intellectual disabilities. However, there are signs of change through some wonderful initiatives like the Victoria and Stuart Project, a pioneering program investigating how to help people with intellectual disabilities make their own choices at the end of life. The project aims to make sure that people with learning disabilities get the right care and support when they are ill and going to die, working with lots of people to try and get this right. The Victoria and Stuart project is named after two people who inspired the initiative through the example of their own plans for end of life care.

Prof Tuffrey-Wijne leads a team of researchers, including members who have intellectual disabilities. This team has created a toolkit together with people with learning disabilities, families, learning disability support staff, and healthcare professionals, including resources and approaches to support staff with end of life care.

We look forward to hearing much more about this project and how resources like this can help the Down syndrome community in planning for end of life care.

You can watch live at the link below on Wednesday 5th March at 6pm GMT: http://www.facebook.com/DSRFUK/live_videos/

We look forward to joining you then!

Recruiting Now- the Rest-Ed Study on sleep in children with DS

WATCH THE FACEBOOK LIVE HERE!

Many children with Down syndrome (DS) experience sleep problems that can affect both their health and the wellbeing of their families. These issues may be due to breathing difficulties during sleep (like sleep apnoea) or challenges with settling down and staying asleep.

The Rest-Ed Team are inviting families to participate in a new study aimed at improving sleep for children with DS, aged 6 months to 5 years. This research will help us find out if a simple parent education package—including an MP4 film, booklet, and brief talk – delivered online in a small group setting to parents/carers can improve sleep and quality of life for both children and their carers.

How the Study Works:

• Families will have a sleep study done at home.
• Children will be assigned to one of two groups to receive the parent education package.
• Parents will complete short questionnaires about sleep and quality of life throughout the study.
• All aspects of the study are performed online/remotely.

This research is being conducted by NHS Lothian and the University of Edinburgh, with support from Down’s Syndrome Scotland BUT they are now pleased to announce they are recruiting across the UK!

Want to Take Part? If your child is aged between 6 months and 5 years and has DS, you may be eligible to join.

To learn more, please contact the REST-Ed team at loth.rested@nhslothian.scot.nhs.uk
Speak to the lead investigator, Dr Florian Gahleitner on 0131 312 0453

Please share the poster to spread the word! 

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Pioneering Change: Why We Must Support the NC34 Amendment for #EqualityAt24 Weeks

At the Foundation, our vision extends beyond research and into the heart of societal equality. We are at a critical juncture where your support can make a monumental difference. The new proposed NC34 amendment seeks to challenge and change how our laws differentiate between fetuses diagnosed with Down syndrome and those without after 24 weeks of gestation.

The Issue at Hand

Under current UK abortion law, the rights of a foetus without a disability are protected beyond 24 weeks of gestation. However, a foetus diagnosed with Down syndrome can be legally aborted up to birth. This distinction not only undermines the value of those with Down syndrome but perpetuates outdated stereotypes and discrimination.

The NC34 Amendment

The NC34 amendment, proposed by Sir Liam Fox MP, aims to rectify this inequality by ensuring that foetuses diagnosed with Down syndrome are afforded the same protections as their peers beyond 24 weeks. This amendment is a vital step toward equality and reflects our values as a society that respects and upholds the rights of all individuals, regardless of their genetic conditions.

Why It Matters

Supporting the NC34 amendment is not just about changing a law; it’s about affirming the inherent dignity and worth of every individual with Down syndrome. It challenges misconceptions and combats the stigma that has long surrounded this community. It aligns with our commitment at the Foundation to advocate for the human rights of people with Down syndrome and their families.

A Call to Action

We urge you to join us in this crucial campaign. Reach out to your MP and express your support for the NC34 amendment. Advocate for #EqualityAt24 weeks to ensure that our laws reflect our principles of fairness and equality.

Your voice can drive change and encourage lawmakers to stand on the right side of history.

Conclusion

The passage of the NC34 amendment would mark a significant milestone in our ongoing fight for the rights and recognition of individuals with Down syndrome. Together, we can ensure that future generations will look back on this decision as a pivotal moment when equality was rightfully extended to all.

Join the Conversation and Act Now:

Now that our MPs are back in Parliament for the new session can we ask you to copy the text below and paste on your Social Media pages at 7pm tonight to get their attention about this important issue?

I support the #EqualityAt24 campaign – Dr Liam Fox MP’s #NC34 amendment which attempts to address an outdated and discriminatory practice associated with Down syndrome. If successful, it would mean that pregnant women will no longer be offered abortions after 24 weeks or later stages of pregnancy purely on the basis that the baby has Down syndrome.

Engage with us on social media, share our message, and encourage others to act. Visit our website to learn more about the NC34 amendment and how you can make your voice heard in this vital cause. Your support and activism are crucial in helping us bring about transformative change.

More details:

ndspg.org/equalityat24/

Major Achievement – Down Syndrome Inclusion in the School Census

We are overjoyed to bring you a momentous update, a triumph achieved through the collective dedication of our National Down Syndrome Policy Group, the All-Party Parliamentary Group on Down Syndrome, and advocates like you. Beginning in January 2025, Down syndrome will officially be recognized as a separate category in the School Census.

What is the School Census?
The School Census is a data collection process conducted three times annually, involving primary schools, secondary schools, special schools, maintained nurseries, academies, and pupil referral units. This process is carried out electronically, and it’s important to note that private schools are not part of this data collection.

Why does this matter?

This achievement holds profound significance for our community in education provision and planning but will extend its reach even further. It also has the potential to enhance the health and well-being of children with Down syndrome.

This development provides a robust foundation for better support and resources for students with Down syndrome within educational settings. The unique learning profile of people with DS is well researched and documented by world leading experts. Many countries now have education guidance, for example DSEi and NDSS recent guideline release.

Importantly, it may also indirectly benefit their health in the following ways:

1. Informed Healthcare Planning: Accurate data on the number and distribution of students with Down syndrome will contribute to more informed healthcare planning. This can lead to better access to specialized healthcare services, including early interventions and therapies that can positively impact the health of children with DS. Especially those with dual diagnosis, hearing and/or vision issues.
2. Tailored Health Programs: The availability of precise data will enable the development of tailored health programs. These programs can address the unique health needs of children with Down syndrome, potentially leading to improved health outcomes.
3. Increased Awareness: The inclusion of Down syndrome in the School Census raises awareness about the specific health challenges faced by these children. It can encourage healthcare providers to prioritize early screening, diagnosis, and intervention of other issues, all of which are crucial for managing potential health issues.
4. Research Opportunities: Having accurate statistics can also spur research initiatives focused on improving the health and well-being of individuals with Down syndrome. This could lead to advancements in healthcare practices and therapies.

We invite you to join us in spreading this momentous news on social media today.  Show your support by also following @APPGDS and @NDSPolicyGroup on Twitter and Facebook, and use the hashtag #DownSyndromeAct to amplify our message.

We extend our heartfelt gratitude to all the groups, individuals, and professionals who have been steadfast supporters of our cause. Your ongoing support continues to drive our mission forward, benefiting not only education but also the health of children with Down syndrome.

Thank you for being an integral part of our journey.

Down Syndrome Task Force- Free Online Conference and DS Act Update

Down Syndrome Act Guidance Update

Down Syndrome Innovation Conference 2023 -Special Offer for UK followers

We have partnered with the host of this conference, Down Syndrome Options, to invite parents and professionals interested in supporting individualised paths for optimal growth and development for children with DS, without discrimination or breaking the bank. It will be available via Live Stream with a discount code for our UK followers (discount code: UK100) book here.

What time is it showing in the UK?

Watching the Livestream of the conference will start at approx 12:45pm UK time until 22:00… but don’t worry you will have access to watch the conference live and later at your convenience as it will be recorded.

Who is speaking?

Rory Feek, Parent, Singer-songwriter
Rachel Coleman, Creator & Host of Signing Time!
Carol Brown, Executive Director, Equipping Minds, Cognitive Development Curriculum: a Foundational Tool for Learning
Lois Laynee, Founder, AZ Sleep Apnea Center, Optimizing Growth & Development with Cranial Nerve Integration
Dr. Theron Hutton, Parent, Pediatrician, Practicing Common Sense
Linda Kane, M.CND, Parent, Neurodevelopmental Therapist, Hope and a Future, Exploring Neurodevelopmental Therapy
Darcy Day, Parent, Spell to Communicate Practitioner, Hope for the Struggling Communicator

Dr. Erica Peirson, Parent, Naturopathic Physician, The Importance of Optimizing Gut Health.  She has lectured nationally and globally sharing with others the many ways to optimize the health of people with DS. She sees patients from all over the world through her private, telemedical practice. She is also the proud mother of a healthy, thriving 15-year-old son who has benefited from her expertise.

Alissa Hodgson, Certified Functional Diagnostic Nutrition Practitioner, Board Certified Holistic Health Practitioner, Targeted Nutritional Intervention: the Science & Practical Application

Sarah Wilkinson, Parent, Chiropractor at Holistic Healing and Chiropractic Center, Synchronizing Options to Maximize Reflex Integration
Jane Winans, MA, Parent, Educational Coach, Victory Lap Mindset, Minimize (Parental) Meltdowns, Avoid Bankruptcy, & Find Humor in this Wonderful, Challenging Opportunity Called Life
Lydia Winans, Young Adult Self-advocate, Taking Charge of My Own Health & Fitness

Andi Durkin, Parent, Executive Director, Down Syndrome OPTIONs, Navigating through Crisis to Connection for Action

What if I want to go to the event in person?

The event is being held in Tennessee in the town of Columbia.  Come to Homestead Hall, a charming refurbished farm at Hardison Mill, to hear dynamic practitioners, therapists, educators, and advocates share inspiration and innovative solutions to improve the health, cognition, sleep, and development of individuals with Down syndrome. Plus, enjoy heart-warming entertainment from our DS community including music from Rory Feek and a short, awarding-winning film, For Paloma written by April Aguilera, parent of a child with DS.

For those attending in person the conference will be from approximately 8 AM-5:30 PM on Friday and Saturday with lunch provided. Elyse Mundelein, Zumba instructor/adult with DS will lead us in fun movement breaks. You’ll also have plenty of time to check out the booths in the exhibit area that support these innovative strategies.

View the Facebook live video of Foundation chair Dr. Corcoran with Andi Durkin from Down Syndrome OPTIONs to discuss the upcoming 2023 Down Syndrome Innovations Conference on Feb. 24-25th which will be held in Columbia, TN but can be watched via Live Stream!

To book don’t forget the discount code for our UK followers (UK100) book here.