Science – In for a bumpy ride

I think back to my high school science education, 2 years of biology (failed and repeated) and the in the five years I was in college I some how managed to postpone any lab sciences. So my understanding of anything that has to do with biological science or chemistry is somewhat limited to my own personal experiences with doctors and hospitals… oh yeah and my mother the nurse, hospice nurse, expert in things that can kill you.

Science is that Ben was sick in January 2007 with a serious week long bout with a fever. The fever was recorded at home by ear at 107, prior to that it was 105 and over most of the day. We reported the 105 earlier to the doctor’s call in service at UNC Hospitals.

Science shows that on January 2, 2007 Ben had some abnormal scores on his blood work. Primarily very low white blood cells (3,000), his GRAN was at 0.8 and low red blood cells (4,500). His RDW was high at 14.6 and his PLT was low at 131. Ben was very sick. Later broke out with Roseloa.

On April 18, 2007 Ben had his blood drawn again prior to his vaccines. His chart showed a check beside his hemoglobin indicating that it was within normal range. His HGB in fact was high at 13.3 as was his HCT which was at 40.1. Ben’s white blood cell count was still low at 6.2, his GRAN was low at 2. His RDW was on the low end at 11.9.

The vaccines Ben received on April 18, 2007 were:

ProQuad – MMRV

Hep A (However, note at bottom of page in chart says “hold Hep A” unsure if delivered on that day)

HIB

Prevnar

On October 19, 2007 Ben received the DTaP and note shows that the HepA was declined as was a booster.

May have had a flu shot on 10/19/07 as well.

NOTES FROM CHART

2/5/07

Eczematous patches on face

7/14/07

Ben fell and split lip

8/15/07

fever 103.8

Weight 25.7

viral syndrome

9/17/07

fever for 3 days

101.8

viral syndrome

Rx for antibiotic, “just in case”

10/19/07

mother concerned about lack of speech and not responding to name

advised to wait until first of year

vaccines, DPaT and maybe flu

11/23/07

fever, no flu booster given

104 night prior, 103 morning

antibiotics

did not notice Ben speak while with doctor

11/23/07 (evening)

fears of allergic reaction to antibiotic, Ben broke out in rash, blue lips

heart rate 100-150

no cynanosis appreciated, not sure if it is cyanosis.

11/29/07

still with fever

mom concerned about autism

mom concerned doctors unable to be positive he has OM vs. viral and wants to know if Ben could possibly have leukemia or anything else that may be causing chronic and recurring fevers.

mom also asked about seizure activity, during the day he will stiffen up and kind of be unresponsive however will have no shaking. he will wake up in middle of night or during nap screaming and crying and acts as if parents are not there, not interacting with them.

mom wonders about high fever and how it may have affected his brain and whether it can account for his behavior problems

Ben well appearing , playful, no apparent distress

seems to exhibit age appropriate behavior, maybe a bit on hyperactive side

mom very preoccupied with Ben’s behavioral what she perceives to be Ben’s behavioral disorder and is eager to find the cause at this point

recommended a workup by TEACH

feels a lot of mom’s concerns are prompted from reading on internet. told her there is more bad information about autism than substantiated information.

anything under 100.4 is not considered a true fever therefore not a concern for leukemia or chronic systematic illness

looked back at latest CBC in April and it was completely normal

12/06/07

rash

CYTOGENETICS

Ben began seeing a DAN doctor summer of 2008. She is a neurologist and specializes in children with special needs. On September 29th she drew blood from Ben. The results are as follows.

Whole genome chromosome SNP/CN microarray (CMS) copy number analysis was normal. No significant DNA copy number changes in 1.8 million region specific SNP and structual targets were detected. No increase in hommozygotsity. Normal GTG banding in all cells observed.

Fragile X – normal, 20 CGG repeats identified.

Normal male Karyotyope

ALLERGEN PROFILE – Basic Foods

No allergies to cow milk, wheat, peanut, corn, sopybean, pork, beef, fish/shell mix, egg, chocolate/cocca

IMMUNOGLOBULINS A/E/G/M SERUM

immunoglobulin G, Qn, serum 933 (453 -916 normal)

E/M/A Immunoglobulin normal

MTHFR (methylenetetrahydrofolate reductase)

MTHFR, DNA Analysis result shows C677T single mutation identified.

Hyperhomocysteinemia is an independent risk factor for cerebrovascular disease and the homozygous C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene can induce hyperhomocysteinemia. (Hyperhomocysteinemia is a risk factor for coronary artery disease and in cases of young myocardial infarction the level is found to be elevated. Individuals with MTHFR gene mutations that reduce enzyme activity, may develop hyperhomocysteinemia and thus be at risk for vascular disease.) However, the association between this 677TT genotype and ischemic stroke still remains controversial. Therefore, we carried out this study to determine whether the MTHFR TT genotype is associated with certain subtypes of ischemic stroke.

The homozygous C677T mutation in the MTHFR gene is associated with multiple small-artery occlusions, but not with single small-artery occlusion. Findings suggest a genetic basis for certain subtypes of ischemic stroke.

A lack of the vitamins folic acid or riboflavin can lead to the inactivation of MTHFR, and the researchers have shown that humans with the C677T mutation may be particularly susceptible to such vitamin deficiency. Inactivation of MTHFR results in elevations in a compound called homocysteine. Such elevations may lead to increased risk of heart disease, strokes, and birth defects in humans.

Increasing the intake of riboflavin and folate through better diets and vitamin supplements should help prevent these potentially life-threatening problems in people at risk.

Researchers  suggest that the C677T mutation may confer protection against some forms of cancer, provided the patient has an adequate dietary intake of folic acid. Scientists must look at ways to avoid the disadvantages associated with this variation, while maximizing the advantages. Any common mutation that persists in the human population must confer advantages as well as disadvantages. If the mutant had an entirely negative influence, it would have been eliminated.

The C677T mutation can be a cause in the disease Hyperhomocysteinemia, an independent risk factor for cerebrovascular disease and the homozygous C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene can induce hyperhomocysteinemia.  The homozygous C677T mutation in the MTHFR gene is associated with multiple small-artery occlusions, but not with single small-artery occlusion.

Small vessel encephalitis can present with motor deficits, aphasia, and/or vision changes. Commonly seen in immunosuppressed patients, small vessel encephalitis is the most common CNS complication of VZV infection.
IL-2 Receptor Alpha

IL-2 Receptor Alpha – High at 1258 (233-710 normal)

Interleukin-2 (IL-2) is an interleukin, a type of cytokine immune system signaling molecule, that is instrumental in the body’s natural response to microbial infection and in discriminating between foreign (non-self) and self. IL-2 mediates its effects by binding to IL-2 receptors, which are expressed by lymphocytes, the cells that are responsible for immunity.

IL-2 is normally produced by the body during an immune response.[10][11] When environmental substances (molecules or microbes) gain access to the body, these substances (termed antigens) are recognized as foreign by antigen receptors that are expressed on the surface of lymphocytes. Antigen binding to the T cell receptor (TCR) stimulates the secretion of IL-2, and the expression of IL-2 receptors IL-2R. The IL-2/IL-2R interaction then stimulates the growth, differentiation and survival of antigen-selected cytotoxic T cells via the activation of the expression of specific genes.[12][13][14] As such, IL-2 is necessary for the development of T cell immunologic memory, one of the unique characteristics of the immune system, which depends upon the expansion of the number and function of antigen-selected T cell clones.

Neuron-specific enolase (NSE):

Neuron-specific Enolase, serum- High at 17.4 (0.0 – 12.5 normal)

Neuron-specific enolase (NSE) is a substance that has been detected in patients with certain tumors, namely: neuroblastoma, small cell lung cancer, medullary thyroid cancer, carcinoid tumors, pancreatic endocrine tumors, and melanoma.

Studies of NSE as a tumor marker have concentrated primarily on patients with neuroblastoma and small cell lung cancer. Measurement of NSE levels in patients with these two diseases can provide information about the extent of the disease and the patient’s prognosis (outlook), as well as about the patient’s response to treatment.

ANTI-OXIDANTS – 9

Anti-Oxidants – high

8-OHdG – high

Lipid Peroxides – high

Taurine – low

MINERALS – 3

Taurine – low

B-VITAMINS

Formiminoglutamic Acid – high 21.4 (<=9)

AMINO ACIDS

Lysine – low 80 (149-1,522)

taurine – low 236 (274-1,607)

DIETARY PEPTIDE RELATED MARKERS

Anserine (dieptide) – low 2 (23-483)

1-Methylhistidine – low 65 (144-2,122)

PROTEIN MALABSORPTION/ MALDIGESTION

Lysine – low

BACTERIAL DYSBIOSIS

Benzoic/Hippuric Acids Ratio – high

YEAST/FUNGAL DYSBIOSIS

Arabinose – high 77.4 (<=63.0)

OXIDATIVE STRESS – 9

8-OHdG – high 20 (<=16)

Urinary 8-OHdG: a marker of oxidative stress to DNA and a risk factor for cancer, atherosclerosis and diabetics.

Lipid Peroxides – high

Taurine – low

ELEMENTAL ANALYSIS – Hair

As one might expect Ben has some environmental toxins due to his weakened immune system. An analysis of his hair shows that several key elements have and are poisoning him.  Some of the elements of concern are:

Antimony (Sb) is above the reference range. Hair Sb reflects past or chronic skin exposure, inhalation or ingestion of this element. Sb is a nonessential element considered to be more toxic than arsenic. Antimony’s deposition in body tissues and its detrimental effects depend upon the oxidation state of the element. Sb+3 affects liver functions, impairs enzymes. And may interfere with sulfur chemistry. If Sb impairs phosphofrutokinase (PFK), then purine metabolism may be disrupted, resulting in elevated blood and/or urine levels of hypoxanthine, uric acid and possibly ammonia. Sb+5 deposits in bone, kidney and in organs of the endocrine system: “Antimony spots” may result from skin contact with Sb salts and vapors. Symptoms can be variable, including fatigue, myopathy, hypotension, angina and immune dysregulation.

Gadolinium (Gd) is above the reference range. Gadolinium is a member of the group of rare earth metals known as lanthanides. It has been used for superconductors, magnets, fluorescent materials, and as a nuclear MRI contrast agent. Toxicity appears similar to nickel and copper, and has been associated with hair loss and skin lesions. These changes are consistent with Zinc deficiency and are correlated with increase in urinary zinc concentrations.

Magnesium (Mg) is below the reference range. Low Mg in hair correlates with increased risk of cardiovascular disease. Low Mg in hair may reflect symptoms or conditions that include muscle tremors, weakness, mental depression and cardiac arrhythmias.

Uranium (U) is above the reference range. Hair levels of uranium may reflect past or chronic ingestion. Most exposure  comes from natural uranium in ground and drinking water. The major toxicology concern of U238 excess is biochemical rather than radiochemical. U is a reactive element which is able to combine with and affect metabolisms of: lactate, citrate, pyruvate, carbonate and phosphate.

Ben’s levels of Mercury and Lead were within reference range.

Like I said at the beginning I have no idea what any of this means. I’ve been told it means he has a weakened immune system.