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Healthy living with functional medicine

  • petrabuchanan

World Down Syndrome Day 03.21.2022

Today, on March 21st is "World Down Syndrome Day" - a day that I am now experiencing for the 8th time. Before my daughter was born with trisomy 21, I didn't know it existed.

To this day, on March 21st, I have mixed feelings - my daily work in my practice focuses on treating Down syndrome as a metabolic disease, optimizing oxidative stress, reducing chronic inflammation, compensating for nutrient deficiencies (zinc, selenium, vitamin D, etc.), improvements in the neurotransmitter ratio, support for mitochondrial dysfunction, and other important issues that contribute to avoiding the sequelae commonly associated with trisomy 21.

If I recognize Down Syndrome as a neurodegenerative disease, how can I celebrate World Down Syndrome Day with a clear conscience?

Every day in my practice I see children and adults with Down syndrome who would have needed the support functional medicine offers much earlier. And it's not always easy to stay positive.

But I also see my daughter Elise, who at the age of 7 is a normal school child. She has potential and can use it. By far not all days are easy with her - nevertheless I can always say clearly that my two boys are not easier either!

Elise had a difficult birth, with premature placenta loss and lack of oxygen, followed by open heart surgery at 5 months- the first year was very difficult for our family. Nevertheless, she always had a lot of motivation and perseverance. Whether it was crawling, crawling, running, she wanted to do it.

We have supported her development a lot (physiotherapy, occipational therapy, speech therapy, horseback riding therapy, Tomatis hearing therapy, etc.) and invested a lot in her health (functional medicine and TNI, nutrition and gut health). Today Elise rides her bike and scooter, she speaks two languages, she goes to an inclusive school and is well integrated there.

Photo: Megan Crown

I love my daughter with all my heart and certainly no less than her two brothers. While I do not like to celebrate World Down Syndrome Day, it is an important day to raise awareness - that our children exist and how much they are worth!

Nevertheless, I wish that our society would be so inclusive that this would no longer be necessary.

What makes my daughter special:

Her open and positive character that brings joy to other people.

Her love for dance and music, with which she never fails to impress us.

Her incredible perseverance- if she wants to achieve something, she does.

Her sense of humor and her acting talent.

Her love for us as parents and for her brothers and family members.

Whether this is simply part of her or is due to the extra chromosome does not matter to us.

21 facts about Down Syndrome
  1. Down Syndrome is found worldwide in all social classes- the occurrence is about 1:700 births.

  2. There are many typical features, such as the 4-finger crease, sandal gap, certain facial features, etc. Not all children have all of these changes.

  3. The risk of spontaneous abortion is high, estimated at 30-50% of pregnancies. The children that are born have what is called a “super genome”. This means that only a few harmful DNA changes occur genome-wide.

  4. Down syndrome occurs incidentally, but there is evidence that mothers of children with DS have changes in folic acid metabolism that increase the risk of chromosomal abnormalities and other diseases (e.g. MTHFR mutations).

  5. Down Syndrome is also an immune system disease – immune dysfunction and chronic inflammation are important features.

  6. There are three copies of chromosome 21 in DS, which is why it is also known as trisomy 21.

  7. Chromosome 21 is the smallest of our body cells and contains only about 1-2% of the total DNA.

  8. There are a good 200 genes on chromosome 21, only some of which lead to the development of "Down syndrome". The exact composition of this "Down syndrome critical region" is not yet fully understood.

  9. In trisomy 21, the extra chromosome causes more free radicals (oxidative stress), which is the reason for the degenerative character of the disease and premature aging.

  10. The risk of developing Alzheimer's dementia early is over 97%.

  11. There is a functional deficiency of folic acid and vitamin B12 due to the additional genes, and thus a limited methylation capacity in the cell.

  12. The risk of developing autoimmune disease is increased by changes in the immune system and increased oxidative stress (e.g. celiac disease, Hashimoto's thyroiditis and Graves' disease, rheumatic diseases, type 1 diabetes, psoriasis and alopecia).

  13. Sleep is often compromised, on the one hand by the tendency to obstructive sleep apnea, on the other hand by the lack of serotonin.

  14. Our brain uses its own lymphatic system at night to cleanse and regenerate. Due to the above-mentioned suboptimal sleep, the glymphatic system is only functional to a limited extent.

  15. The power plants of our cells, the mitochondria, are damaged by oxidative stress and are not reproduced. Muscular hypotonia can be positively influenced by supporting the mitochondria.

  16. There is lack of acetylcholine, an important neurotransmitter. This affects growth, the emptying of the intestines and bladder, tooth development, coordination, language and memory, as well as the hormone system. An optimal setting can only be achieved through a holistic analysis and treatment.

  17. An underactive thyroid is common, even without autoimmune disease. It is worth looking at the nutrient supply (zinc, iodine, selenium, iron, B vitamins) and the oxidative stress.

  18. Early and frequent treatment with antibiotics is not uncommon (due to organic changes with corresponding surgeries and immune dysfunction), and with it a change in the gut microbiome. The gut-brain axis can have powerful effects on behavior, communication, and sleep.

  19. People with trisomy 21 can achieve a lot with the right treatment and support, they are able to read, write and do arithmetic, can graduate from school, some are now studying and there are more and more adults who can live independently or in shared accommodation.

  20. Life expectancy in Europe has risen from an average of nine years (1929) to around 60 years (2004); some are reaching their 70th birthday today). Therefore, premature aging and the early development of Alzheimer's is a serious problem.

  21. Contrary to the opinion of conventional medicine, it is worthwhile not to wait, but to intervene and provide support at an early stage. Because only through a holistic treatment can we maintain the health of our children.

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