Wednesday, July 3, 2013

Get the lab work done!

Each child with DS is different, just like any other child.  You have to get the appropriate lab work done to see what is actually affecting your child.  While supplements are great and giving something is better than nothing, but you truly need to get lab work done to show you what is in excess and what is deficient with your child.  I often hear the term "I treat them just like my other typical children".  In some ways, that is ok, but when it comes to helping them be their best and keep them healthy and growing, you should really find out what your child specifically needs.  It is called "special needs" for a reason. 

Presley just turned two years old last month, and we have done blood work every six months.  We have monitored her thyroid levels as they have gone all over the place.  Obtaining it once would not have shown the trend of it slowing increasing.  We also found her iron level was decreasing rapidly, but we caught it before it caused an iron deficiency anemia.  Correcting it quickly straightened out the strange sizes, shapes, and immaturity of her red blood cells (morphology).  Again, we are trying to stay ahead of any issues.

Recently, we began using a new practitioner.   I waited until Presley was turned two, so it was time to update her lab tests.  We were already ordering the usual anticipated tests like: CBC (complete blood count); thyroid panel of TSH (thyroid stimulating hormone), free T3, iodine, and free T4; and serum iron level, ferritin (iron stores), and retic count to assess where we were after six months on Floradix.  (See previous post: to learn more about iron deficiency) With the help of the local genetic clinic to order labs, we also included zinc, Vitamin D, selenium, folate, MTHFR and urnary neurotransmitter levels. 

Our results indicated her iron levels had been replenished, and we could decrease to once a week maintenance dose now.  The other vitamin levels came back at the upper limits of normal, so we knew our supplements were working and at an appropriate dosage.  Iodine level was good, which is necessary to support normal thyroid function.  Her TSH has been creeping up each time we look at it, however in the past 6 months, Presley's core body temperature has been 96-97 each morning and her height had just dropped below the 50th percentile.  She has always been around 65-70th percentile on the typical chart.  So, it is obvious to us where this was heading.  We would rather begin a small dose of thyroid support now in lieu of waiting until the TSH falls within a range of what endocrinologists consider appropriate for treatment. 

Presley came back as heterozygous for the genetic mutation C677T.  This is one you shouldn't ignore.  It is recommended to test the rest of the family, but we haven't done this yet.  See this website:  to understand more about how this affects your health and the important methylation process.  If your are positive, you do not need any folic acid, but you do need folinic acid and methylfolate.  (Very important if you are of child bearing age since everyone just generically takes extra folic acid during pregnancy).  I was glad to know some things we were already doing as seen in the basic protocol (  Not everything is right for Presley or for DS, but here are some examples of what you can do:

Here are the common recommendations for supporting those with C677T MTHFR mutations:
  1. Limit ingestion of folic acid in fortified foods as you cannot process folic acid well.
  2. Limit or cease taking supplements or drugs with folic acid in them. Talk with your doctor before stopping.
  3. Avoid folic acid blocking drugs such as birth control or Methotrexate.
  4. Avoid drugs which increase homocysteine such as Nitrous Oxide (most used in dentistry)
  5. Avoid antacids as they block absorption of vitamin B12 and other nutrients
  6. Begin understanding which of your symptoms may be related to the C677T MTHFR mutation.
  7. Measure homocysteine levels – properly!
  8. Inform your family members so they can also test for the MTHFR mutation
  9. Find a doctor who is knowledgeable about MTHFR or is willing to learn
  10. If you are pregnant, find an OB/GYN or midwife who is knowledgeable about MTHFR.
  11. Eliminate Gluten from your diet – especially wheat.
  12. Eliminate or reduce Dairy from your diet. If you must have dairy, use Goat milk.
  13. Sauna or sweat somehow (epsom salt baths, sports, yoga..) at least once to three times a week.
  14. Limit intake of processed foods
  15. Increase intake of whole foods and home-prepared meals
  16. Eat the Rainbow of colors from fruits and vegetables – daily
  17. Castor Oil Packs over your abdomen daily during times of pain, soreness, cramps
  18. Vegetable/Fruit Juice Diet with Chia Seeds during times of pain, soreness, cramps
  19. Limit intake of high methionine-containing foods if homocysteine elevated
  20. Coffee Enemas during times of detoxification or pain
  21. Filter chlorine from your drinking water, shower and bath.
  22. Drink at least two liters of filtered water daily mixed with vitamin C and electrolytes.
  23. Eat smaller, but more frequent meals, throughout the day with some form of protein.
  24. Limit protein intake to approximately 0.7 grams protein per kilogram of body weight.
  25. Remove mercury amalgams and root canals with a trained biological dentist.
  26. Avoid cooking, drinking, storing and heating in any type of plastic container.
  27. Use an air purifier in your home and office
  28. Eliminate carpets from your home and install low VOC wood or tile flooring.
  29. Eat grass-fed beef, free range, hormone free and antibiotic meats and eggs
  30. Cook with electric stove and oven and remove gas stove and oven.
General Nutrient Recommendations for C677T MTHFR mutations:
  • Methylfolate
  • Methylcobalamin
  • Betaine in the form of TMG
  • NAC
  • Glutathione
  • Pyridoxal-5-phosphate
  • Riboflavin
  • Curcumin
  • Mixed tocopherals (vitamin E)
  • Silymarin (Milk Thistle)
  • Phosphatidylcholine
  • Nattokinase
  • Vitamin C
  • Vitamin D3
  • Comprehensive multivitamin/multimineral
  • Probiotics

Next was the neurotransmitters results.  The company that runs the test stated that it isn't unusual for children to have high levels due to their general higher level of activity.  Children with DS have even higher elevations though.  Presley was no exception, all the levels came back uncomfortably elevated. You need to know which one is elevated with your child so you know how to counteract them. Presley's glutamate level was worst and came back 4 times the optimal level.  Glutamate is  one of the main excitatory neurotransmitters in the brain and is mostly inside the cells.  If the cells are over excited, they can spill their contents and die.  We need to quiet the cells and protect the brain.  We were recommended some specific supplements to counteract the elevated levels.  There are many different supplements specific to counteract which neurotransmitters are elevated the most.  

I can not emphasize how important it is to get the lab work done to see what is biomedically different about your loved one.  Maybe there is something you could do to increase or preserve their cognitive function, prevent the early onset of Alzheimer's disease, enhance their health, and strengthen their immune system. All of these may enrich the quality of their daily lives, and yours.   You will not know if you do not look.  Be prepared, it can be a roller coaster of emotions again when you see the results.  I wasn't pleased to see in writing that Presley has legitimate medical issues, but I am happy to know that I am able to say that I am doing everything I can to help her be the best she can be.  Let the lab work guide you. Blessings, Robin


  1. Are you referring to the ONE test that you have to collect morning urine?? I have had this test sitting here for a year since Dr. Peirson ordered it and am so hesitant to try after reading about how hard it is to get sample. Any tips??

    1. We initially did just the urinary neurotransmitters. The ONE test wasn't covered by our insurance and would cost us around $500 so we have yet to do it. I find the same tests that are covered by insurance and order them separately. The ONE is definitely the better way to go with detailed information though. For the first morning urine, we used a small training potty and leaned it really well and as soon as she moved that morning, I placed her in it and placed her feet in a pan of warm water and she went no problem. Good luck! Blessings, robin