Monday, October 17, 2011

Medical Update on Sam Mayer!

I'm convinced that Sam just doesn't want me to get bored or possibly God is testing me or it's a combination of the two. Sam has had an increase in hip pain and is walking less instead of more. We headed back in to see his orthopedic surgeon and the x-ray unfortunately showed that we still don't have any bone regrowth in his left basically Sam still does not have a functional hip on the left side. Along with that concern is the chance that Sam has increased inflammation in the hip. It was suggested that we give Sam Tylenol and see if that calms the possible inflammation. So we gave him Tylenol but he continues to walk less and have a worse limp. Sooooo....we are headed in on Wednesday for a CT scan of the hip.

We are also considering a trip to Baltimore to have a one on one consult with Dr. Shawn C. Standard, a Perthes Specialist. I just want to make sure we are doing everything we can to give Sam a chance at having a functional hip, less pain and more mobility. Honestly...I just wish someone could fix it.

At the same time, Sam recently had blood work that showed his Vitamin D level was again well below the average. He has had two illnesses coming into the fall season which again raises my concerns about his compromised immune system. I have wanted to find someone that could do extensive testing and could figure out what is happening with Sam metabolically. Sam has so much going on that my gut keeps telling me that we have to figure out what Sam is over expressing, what he is lacking, how much yeast is he dealing with, what heavy metals does he have in his system, what are his amino acids looking like and what is the overall status of his gut and digestive tract. Yep, these are the kind of things that keep me awake at night.

Through a friend I was told about Dr. Norman Schwartz who is conveniently located in Mequon, Wisconsin. I am hoping and praying that Dr. Schwartz is the one who will be able to connect the dots and give us a better idea of how to help Sam biomedically. I believe that if Sam's body functions better, some of the issues that plague him like his compromised immune system, metabolism issues, vitamin/mineral deficiencies and overall function could be substantially improved. Your body working and functioning appropriately allows you to feel and function at a higher level overall. I'm not interested in applying patches or bandaids...I want to fix it. But Sam has always been a complicated puzzle. What is working for other children with Down syndrome doesn't seem to work for Sam. Like his NACD program, I need an individualized approach. Someone to look at just Sam and figure out not necessarily what is typical in the Down syndrome population but what is happening with just Sam. So I am in the process of getting labwork, urine samples and stool samples. Gosh, more experiences I never really wanted to understand...but Sam and God must feel I need to brush up on my biology. The picture is of the home test kits I need to complete in the next couple of days. I guess I should feel encouraged that Sam has already trained me on the use of urinals and bedpans...that training will come in handy.

I emailed Sam's pediatrician regarding the labwork that needed to be done. I know I have read on many blogs about doctor's that are not open to such thorough testing and think it is a waste of time and money. I agree with them if you don't have someone who can put the pieces together, analyze the data, make recommendations and then retest to see if the expected changes are happening. I have always held Sam's pediatrician, Dr. Dirk Steinert in high regard, he listens, he's open to discussion, he's willing to think outside the box but even I was surprised when he said "Yes, he could do the labs and he would like to come to Sam's next doctor appointment with Dr. Schwartz." I've never had a doctor offer to come to another doctor's appointment for Sam. I was equally thrilled when Dr. Schwartz said he would be delighted to have Dr. Steinert at the next appointment. I love when everyone begins to work together...I just hope this is contagious.

Now it's time for some heavy duty medical stuff. I'm not going to say I have all this right, because I hope to learn more but this should give you the gist of things. The explanations are from various websites. Sam's blood work will consist of:

peroxidase thyroid-Thyroid peroxidase test is a test that measures the level of an antibody that is directed against thyroid peroxidase (TPO).

Autoantibodies to thyroid peroxidase (TPOAb) are produced within the body. The presence of TPOAb in the blood reflects a prior attack on the thyroid tissue by the body's immune system.

CMP-The Comprehensive Metabolic Panel (CMP) is a frequently ordered panel of tests that gives your doctor important information about the current status of your kidneys, liver, and electrolyte and acid/base balance as well as of your blood sugar and blood proteins. Abnormal results, and especially combinations of abnormal results, can indicate a problem that needs to be addressed. The CMP is typically a group of 14 specific tests that have been approved, named, and assigned a CPT code
25-OH vit D-The 25-hydroxy vitamin D test is the most accurate way to measure how much vitamin D is in your body.

In the kidney, 25-hydroxy vitamin D changes into an active form of the vitamin. The active form of vitamin D helps control calcium and phosphate levels in the body.

TSH-The TSH test is often the test of choice for evaluating thyroid function and/or symptoms of hyperthyroidism or hypothyroidism.
Free T4-Total T4 and free T4 are two separate tests that can help a doctor evaluate thyroid function. The total T4 test has been used for many years to help diagnose hyperthyroidism and hypothyroidism. It is a useful test but can be affected by the amount of protein available in the blood to bind to the hormone. The free T4 test is a newer test that is not affected by protein levels. Since free T4 is the active form of thyroxine, the free T4 test is thought by many to be a more accurate reflection of thyroid hormone function and, in most cases, its use has replaced that of the total T4 test.
Free T3-A T3 test is used to assess thyroid function.
Ferritin-The ferritin test is ordered to assess a person's iron stores in the body. The test is sometimes ordered along with an iron test and a TIBC to detect the presence and evaluate the severity of an iron deficiency or overload.
Serum Copper-If a doctor suspects copper toxicity, copper deficiency, or a disorder that is inhibiting copper metabolism, then he may order blood and/or urine copper tests along with ceruloplasmin to help evaluate the person's condition.
Plasma Zinc-Plasma zinc levels have been found to be dependent upon vitamins A and D. This suggests that a Vitamin A or D deficiency could cause a secondary zinc deficiency and that for treatment of zinc deficiency one should ensure adequate vitamin A and D intake.
Carnitine-free, total, esters-The primary function of carnitine in the body is to regulate fat burning and to help the body use stored fat as fuel. L-Carnitine is responsible for transporting fat to the powerhouse of our cells called mitochondria. Unless fat makes it to the mitochondria, it cannot be burned, no matter how much you exercise or diet! Carnitine works best with a diet low in carbohydrates and adequate amounts of protein, omega 3 fatty acids, and CoQ10.
Ammonia-The ammonia test is primarily used to help investigate the cause of changes in behavior and consciousness.
IgM, IgA, IgG titers-total-IgA, IgG, and IgM are frequently measured simultaneously. Evaluated together, they can give doctors important information about immune system functioning, especially relating to infection or autoimmune disease.
Homocysteine-A physician may order a homocysteine test to determine if a person has B12 or folate deficiency. The homocysteine concentration may be elevated before B12 and folate tests are abnormal. Some doctors may recommend homocysteine testing in malnourished patients, the elderly, who often absorb less vitamin B12 from their diets, and those with drug or alcohol addictions.
Hgb A1C-The HbA1c blood test — also called glycosylated hemoglobin, glycohemoglobin or A1c — estimates how well blood sugar has been controlled during the previous three to four months.
Plasma Amino Acid-This test is conducted in order to detect the content of amino acids in the blood. An elevated level of a certain amino acid is strongly indicative of a problem in the ability of the body to metabolize that particular amino acid. Improper nutrition, some medical conditions and fevers may cause a fall in the amount of amino acids in the blood. This test may also be done to detect such lowered levels.
Ionized Calcium-A blood calcium test is ordered to screen for, diagnose, and monitor a range of conditions relating to the bones, heart, nerves, kidneys, and teeth. Blood calcium levels do not directly tell how much calcium is in the bones, but rather, how much calcium is circulating in the blood.
Reverse T3-In times of stress, the body may need to conserve energy. Since thyroid hormone acts like our internal thermostat, thyroid hormones may be suppressed in times of stress. One way this is done is by converting the thyroid hormone T4 into an inactive form of the active T3 hormone called reverse T3. This lowers the amount of available active T3 which can lead to hypothyroid type symptoms.

The home tests are Urine Toxic & Essential Elements and Urine Toxic Metals from Doctor's Data. These tests: Urine toxic and essential elements analysis is an invaluable tool for the assessment of retention of toxic metals in the body and the status of essential nutrient elements. Toxic metals do not have any useful physiological function, adversely affect virtually every organ system and disrupt the homeostasis of nutrient elements.

We are also doing an Organic Acids Urine Test from The Great Plain Laboratory. This is what they say about this test: The Organic Acids Test (OAT) provides a metabolic “snapshot” based on the products the body discards through the urine. These small, discarded organic acid molecules are byproducts of human cellular activity, the digestion of foods, and the metabolism of gastrointestinal flora. At certain levels, organic acids in urine may be indicators of toxicity or “markers” of metabolic pathways. Metabolites of yeast or gastrointestinal bacteria appear against the background of normal human metabolites and provide an assessment of yeast and bacterial activity.

The new and improved OAT has increased the number of tested compounds to 70 (including Creatinine) and two new ratios have been added. The new compounds detected may result from variations in vitamin and hormone metabolism, energy level, intestinal wall integrity, neurotransmission, and muscle function.

The OAT offers the most complete and accurate evaluation of intestinal yeast and bacteria. These factors are of critical importance in neurological, gastrointestinal, and movement disorders. Abnormal toxic metabolites of these microorganisms can cause or worsen behavior disorders, hyperactivity, movement disorders, affect energy levels and immune function. Yeast can attach to the intestinal wall causing “leaky gut” syndrome, which can cause or magnify food allergies, impede absorption of vitamins and minerals, and cause intestinal disorders. Many people with chronic illness, allergic conditions, and neurological disorders often have one or more abnormal organic acids in their system. Factors which can cause or affect the intestinal yeast overgrowth include oral antibiotic use, excessive sugars in the diet, selective or combined immune deficiencies, genetic and other factors.

Once any abnormalities are detected, there is a variety of treatment options available to treat the condition. Treatments include antifungal or antibacterial products, probiotic supplementation, vitamins, antioxidants and dietary modification.

Patients and physicians have reported significant improvement upon treatment including: decreased fatigue, regular bowel movements, increased energy and alertness, increased concentration, improved verbal skills, less hyperactivity, better sleeping habits, and decreased abdominal pain.

We are also doing the Metametrix Microbial Profile. This is what they say about this test: The GI Effects Microbial Ecology Profile identifies predominate, opportunistic, and pathogenic bacteria using DNA analysis. Other analytes included are yeast/fungi, parasites, adiposity index, and microbial and fungi sensitivities. This profile helps monitor the intestinal microflora of the gut that are central to colonization resistance, which prevents colonization of the gut by pathogens.

Whew...that's a lot of information. I am fascinated to learn what this will all tell us about Sam. I am hoping that this is yet another piece of the puzzle in helping Sam be healthy, happy and reaching his full potential. Keep praying!!!


  1. Praying you get the answers you need. God bless you and Sam!

  2. Congratulations on the doctors desiring to work together!! And other bits of 'good news' that I saw...Best of luck in ferreting out the pieces of the puzzle and finding the best specialists to help in that search!! I've asked my Father to give you ALL that you need to win this battle. He's already stacked the deck in your favor by creating Sam to be the person he is and then giving him to a mom (read family)like you! Inspired as always ~dj

  3. WOW that is a lot of stuff and I am praying that you find out information that helps as that would be so nice to do. I am excited to hear about the results, as in a way I feel like there is always something that can be done and am always looking also. That is wonderful that the doctors are working together as that makes it easy for you. Praying for you. Hugs Heidi