I have been using Functional Medicine (FM) testing in practice for 2 1/2 years now and I find it an invaluable tool for assessing a persons metabolic status.
Its important to understand that these are not conventional medical tests that your Paediatrician or GP will order for you. Unless they are practising Functional Medicine, they won’t understand what you are requesting, so save yourself the effort. You can be referred for these tests via a Naturopath or Integrative Practitioner.
Below I have listed my personal favourite FM tests which I find relevant to treating Trisomy 21. Other practitioners may recommend tests from different companies. In an Initial consultation I make suggestions about which of these tests are relevant to your child’s condition, after I have taken a comprehensive health history and understand their health weaknesses.
What is a Functional Medicine approach?
You may have noticed the term Functional Medicine (FM) becoming more common. In the last 2 decades many Drs and Practitioners realise that a comprehensive approach to healing the human body is optimal. FM is quickly replacing the conventional approach which is disease orientated, with one medication prescribed for everyone with the same symptoms. FM is moving towards a patient centred, holistic approach which looks at the underlying cause of disease, and biochemical individuality with a preventative approach in mind.
A Nutrigenetic protocol is a preventative approach to treating T21 and our goal is to avoid the development of disease associated with ageing in this population. Now we are refining the protocol by employing practitioners to focus on biochemical individuality so that people with T21 have access to the full range of testing and treatment for optimal growth and development.
How does Functional Medicine work?
“The functional medicine model is less concerned with what we call the dysfunction or disease and more about the dynamic processes that resulted in the person’s dysfunction.”
An example is when your GP gives your child a diagnosis of ‘hypothyroidism’ based on an elevated TSH and puts them on medication. A FM approach would be to look at what dynamic processes are occurring in the person’s body to cause the TSH to elevate.
We understand from science that many things can drive a high TSH such as stress, low iron, poor mineral intake or absorption, microbial imbalances and FM testing can identify what these dynamic processes are.
Functional medicine testing looks for the root cause of a health issue. It makes sense that when you address the root cause, you can experience total wellbeing rather than a ‘bandaid’ approach.
Testing
The tests I recommend support a more encompassing, functional medicine approach to health. I have found the following six tests invaluable for viewing a ‘full metabolic’ picture of your child’s health.
I recommend getting tests done in this order, (unless you have a gut issue which requires stool testing initially):
Hair Mineral Testing (HMT)
https://www.traceelements.com/docs/Graph.pdf (Trace Elements sample report)
https://www.doctorsdata.com/resources/uploads/sample_reports/Sample%20Report%20Hair.pdf (Doctors Data sample report)
HMT looks at the excretion of minerals and metals in hair tissue over a period of three months. We can see dynamic processes occurring in the body, in contrast to blood testing which looks at minerals and metals at a moment in time. We often get a very different picture from a HMT. The reason this test is so valuable is that 1) while a blood test might show normal serum levels of Zinc, HMT may reveal that while the body is able to maintain normal serum zinc levels, rapid excretion is occurring in hair tissue which over time would lead to mineral depletion if not addressed.
In addition HMT gives us information about iron status, thyroid, adrenals, sulfur metabolism, blood sugar levels, electrolyte status, lithium levels, mitochondrial energy and importantly toxic metals. Toxic metals can disrupt cellular metabolism by preventing mineral absorption, and the Glymphatic Detox can be used to transport metals out of the cell, and improve mineral levels in the body.
2) Urine Amino Acids (UAA)
https://www.doctorsdata.com/resources/uploads/sample_reports/Sample%20Report%20UAA.PDF (Doctors Data sample report)
Urine Amino Acid testing gives us information about amino acids, the building blocks for proteins in the body. UAA’s are useful for determining methylation status as several amino acids are associated with methylation cycle function including homocysteine, methionine, taurine and cysteine. The level of amino acids alert us to the activity of associated nutrients and snps in pathways which affect methylation function.
An example is low methionine, indicating a need to examine the availability of Vitamin B12 and folate, as well as phosphatidylcholine and DHA (short route methionine nutrients). Often we need to look at what is affecting the absorption of Vitamin B12 and folate rather than increasing supplements.
3) Comprehensive Stool Analysis (CSA)
https://www.gdx.net/core/sample-reports/gi-effects-2200-sample-report.pdf (sample report Genova GI Effects)
https://www.doctorsdata.com/resources/uploads/sample_reports/Sample%20Report%20CSA.PDF (sample report Doctors Data)
A CSA identifies the organisms, normal and pathogenic, present in your gastro-intestinal tract. There are two types off CSA tests available which I have found to be excellent quality:
Doctors Data CSA (DD CSA)
DD CSA is a culture based test which allows organisms to grow without limitation but isn’t sensitive to slow growing or oxygen sensitive microbes. It shows organisms growing in a given amount of time, useful for detecting non-optimal species in your gut. In addition DD CSA looks at yeast, digestion and absorption, inflammation and intestinal permeability, short chain fatty acid production, and effective natural treatments. You can test parasites if you order the CSA + parasite test.
Genova GI Effects (GGIE)
GGIE uses a combination of culture plus DNA detection of microbes and parasites. In addition to growing microbes in the cultured method described above, it uses a DNA probe to detect small numbers of slow growing organisms, however this is limited to a certain number of organisms. This combination which includes culture as well as DNA analysis provides very comprehensive data.
In addition GGIE tests for yeast, parasites, digestion/ absorption markers, inflammation/ immunology, short chain fatty acids with the option for additional tests such as Helicobacter Pylori.
4) Food Sensitivity Testing (FST)
https://immufood.com/wp-content/uploads/2018/09/ImuPro_Basic_90_Foods_sample_report_.pdf (Immufood sample report)
The reported incidence of food sensitivities in the T21 population is relatively high. Food sensitivity testing measures the IgG antibody response to foods, indicating immune system activation when certain food enters the gastro-intestinal tract. If intestinal permeability is suspected, identifying food sensitivities is essential for gut barrier healing to occur. Intestinal permeability is the precurser to autoimmunity, common the the T21 population.
This test is easy to interpret without practitioner guidance, but is more effective when used with a complete gut healing program.
5) Organic Acids Testing (OAT)
https://static1.squarespace.com/static/560ac814e4b067a33438ecea/t/5ac3917e352f533cbdd56a5c/1522766208767/New+Oat+Sample+Report+April+2018.pdf (Great Plains sample report)
OAT testing is the last, but certainly not the least important test on this list. The reason I recommend doing this test last, is that it will improve following gut treatment. So, the sequence of treating the gut first means that once we get to OAT testing we are really fine tuning your child’s biochemistry.
OAT testing gives us information about nutrients necessary for certain biochemical pathways in the body to function efficiently. Important methylation nutrients such as folate and Vitamin B12 can be detected via FIGLU and Methylmalonic acid metabolites. The methylmalonate marker on the OAT test is apparently more accurate than on a blood test.
In addition the OAT looks at the turnover/ breakdown of neurotransmitters such as dopamine and serotonin which are associated with neurological issues such as depression, obsessive compulsive disorder, mood instability and the need for extra neurotransmitter support.
OAT testing generates data about energy production and mitochondrial function, which are affected by gene over expression in T21. Mitochondrial energy production is necessary for proper levels of minerals such as lithium and potassium, as well as healthy organs such as heart function.
The OAT test detects overgrowth of Candida and Clostridia as well as exposure to fungus and mould toxicity. Markers for carbohydrate metabolism reveal whether the body is using sugar efficiently or converting to ketosis; an inefficient source of energy in T21.
ADDITIONAL TESTS
6) DNA Testing (DNAT)
https://www.23andme.com/en-int/ (23andme DNA test)
https://livewello.com/genetics (Livewello raw dna data analysis)
The idea of DNA testing is to have an idea of underlying genetic susceptibility. With this knowledge you can then do biochemical tests (above) to detect imbalances and address those imbalances using natural supports and dietary choices.
DNA tests are designed to interpret the typical profile of genes associated with 23 pairs of chromosomes. We can use DNA tests to evaluate regular genetic mutations which have been identified in the typical population, which people with T21 also have.
In the absence of DNA tests, regular biochemical testing lets you know where you are at and what supplements can make a positive impact for you. DNA testing identifies underlying genetic weaknesses, while biochemical testing provides you with feedback on how well your nutritional support is working.
Unlike DNA testing, biochemical testing can be done routinely to check the supplements you are using are actually making a difference.
There are many other functional tests available, but the ones I have listed above are, for me personally, the most valuable for people with Trisomy 21. All tests recommended above are non invasive and can be done at home. In addition you can run blood tests from your GP to support these tests.
Please note, I recommend all tests to be done while on a Nutrigenetic protocol. This allows us to see which nutrients/ pathways/ microbes need to be addressed with genetic support in place. The exception to this is when a test requires you to stop a supplement for a period of time before the sample is taken ie. for stool testing you are required to stay off probiotics between 3 days – 2 weeks prior to taking the sample.
Its important to understand that none of these tests are designed for a client with three copies of chromosome 21 (T21). Interpretation of the above mentioned tests is effective with knowledge of T21 biochemistry and the T21 disease process.
