** (scroll to bottom for medications) **

Ryli has been tested for:

• Rett Syndrome:

         CDKL5 sequencing for atypical Rett syndrome (negative)

MECP2 deletion/duplication analysis for Rett Syndrome (Sept 2004) (normal)

         DNA analysis of MeCP2 gene ruled out Rett Syndrome

• Signature Chip Microarray (normal)
• Mitochondrial DNA point mutations and deletions (normal)

• Urine creatine and guanidinoacetate (Mild increased creatine:creatinine)
• Urine succinyl purine (normal)
• Acylcarnitine profile (normal)
• Serum CK (normal)
• High resolution chromosome analysis (May 2005): Normal 46, XX karyotype
• Serum transferring electrophoresis to rule out Congenital Disorders Glycoprotein Syndrome (CDGS) (Sept 2004): Normal

• Angelman Syndrome…DNA sequencing of the UBE3A gene (Sept 2004) (negative)
• Methylation testing for Prader-Willi/Angelman Syndrome…(Sept 2004) (normal)
• Molybdenum Cofactor Deficiency…Serum uric acid and urine sulfocysteine

         and isolated Sulfite Oxidase Deficiency (Sept 2004) (normal)

• Ceruloplasmin (Sept 2004) (normal)
• CSF Lactate and pyruvate (Sept 2004) (normal)
• Very Long Chain Fatty Acids (Nov 2005) (normal)
• Neurotransmitter metabolites (Nov 2005) (normal) but previously showed slightly elevated
• WBC enzyme screen (Nov 2005): Normal CSF amino acid scree (Nov 2005): Normal
• CSF amino acid screen (normal)
• Quant serum amino acids (May 2004) (normal)
• Urine amino acid screen (May 2004) (normal)
• Urine organic acid screen (May 2004) (normal)
• Thyroid panel (Nov 2005) (normal)
• Conjunctival biopsy (Sept 2004) (normal)
• Electroretinogram (Spet 2004) (normal)
• Immunoglobins (normal)
• Carbohydrate Deficient glyco syndrome (?)
• Hepatic Function Panel (Routine check)
• Proteins (slightly elevated) due to Subdural Hematomas
• Succinylpurine / UCHSC Biochemical Lab (normal ?)
• Pipecolic acid –Elevated at 3.35 (0.7-2.5) – Dr. Gallagher feels that although this is elevated, it is not high enough to be concerned with pyridoxine dependent seizures.  Also, since Urine alpha-amino adipic semialdehyde test was normal, she did not feel this result was significant (May 2008 elevated)
• Urine alpha-amino adipic semialdehyde (May 2008 normal) – was ordered to look into pyridoxine dependent seizures.  Children with this disorder respond to B6 and sometimes folic acid.  Parents had mentioned that Ryli’s seizures stopped after folic acid was started (Folic acid stopped IS)
• Guanidinoacetate/creatine - Mildly increased creatine/creatinine ratio. Theoretically, this patient could be heterozygous for X-linked creatine transporter deficiency, but this test is not definitive for this diagnosis. The excretion of guanidinoacetate (GAA) is also mildly increased, but not in the range typical for guanidinoacetate methyltransferase deficiency. Overall, this pattern may also be secondary to a nonfasting state, low muscle mass, or renal tubular disease. If clinically indicated, consider repeating the analysis in a fasting urine sample (May 2008 elevated)
• Urine Alpha-Amino adipic semialdehyde (normal)
• CGL CytoChip (May 2008 normal) This is the latest technology to look at chromosomes.  Previously Ryli had high resolution chromosomes (normal) and another type of microarray chip (normal)
• Creatine Transporter Deficiency (SLC6A8 sequencing)…Baylor College of Medicine (09-02-08) ordered due to elevated creatine/creatinine ratio (negative)
• Biotinidase enzyme assay, Serum (09-02-08) to rule out biotinidase deficiency which can cause seizures, skin findings, developmental delay, and alopecia.  Even though Ryli had a normal newborn screen for this, it was a “screen”, so it was worth repeating
• Purine and Pyrimidine panel (09-02-08) to screen for a group of disorders that is involved in purine metabolism.  These disorders can cause infantile seizures and developmental delay
• 7,8 Dehydrocholesterol (09-02-08) to rule out Smith-Lemli-Opitz syndrome.  There’s a great deal of clinical variation in the disorder so even though Ryli doesn’t fit most of it, it’s usually one test that is ordered on all children with developmental delay (normal)
• Oligosaccharides, urine (09-02-08) to further investigate a storage disorder.  Children with storage disorders tend to have multi-system involvement.  Ryli has had a good deal of other screening for storage disorders that were all normal, but this one was never done
• Homocysteine…Homocystinuria can cause seizures (09-02-08) (normal)
• Urine AASA (May 27 2008) (normal)
• Urine creatine guanidinoacetate (May 27 2008) (abnormal again)
• …The creatine to creatinine ratio was 2.03, reference range for her age is less than 1.51.  Affected individuals with creatine transporter deficiency N=6, have a range of this ratio from 2 to 4.8.  Guanidinoacetate was 178.3 millimoles per mole of creatinine.  Reference range for 4-12 years of age 12-127, her results is mildly elevated.  This is below the range seen in GAMT deficiency. 
• Total plasma homocysteine (09-02-08) (normal)
• Serum biotinidase level (09-02-08) (normal)
• Urine oligosaccharides (09-02-08) (normal)
• Serum 7-dehydrocholesterol (09-02-08)
• Urine purine  and pyrimidine panel (09-02-08) (normal)
• MRI w/MRS Spectrum (10-22-08)…Repeat brain MRI – Progressive diffuse cortical and subcortical volume loss, greatest anteriorly.  Resolution of extra-axial hemorrhage.  No MR Spectroscopy findings of Creatine transporter deficiency (negative)
• ARX (04-23-09)
• Liver function (04-23-09) to see if Liver enzymes are leaking into the blood stream causing ‘neurological like’ symptoms
• Dr. Fieman (immunologist)…No Autoimmune difficiency.  Immune system “normal”.  Working @ “high” level @ respiratory system (09-02-09)
• PCDH19 gene sequencing:  (Normal) (no mutation detected in exons 1-6) – Test was taken by Dr. Gallagher (genetics dept) (May 6, 2010). Results of the aforementioned testing are within Normal limits.
• 180 kb chromosomal microarray analysis:  (Normal) (no genomic losses or gains detected) – Test was taken by Dr. Gallagher (genetics dept) (May 6, 2010).  Results of the aforementioned testing are within Normal limits.

.

Review of Systems:

• Constitutional: profound global developmental delay
• Eyes: unable to track, unclear how well Ryli sees.  Pupils are equal, round, reactive to light.  The sclerae are white and quiet
• Ears/Nose/Mouth: one episode of otitis, normal hearing
• Head: the head is microcephalic, atraumatic
• Feet: Very small
• Respiratory: multiple episodes of aspirated pneumonia prior to tracheostomy.  Right collapsed bronchus noted during bronchoscopy November 15, 2010.
• Cardiovascular: normal
• Gastrointestinal: G-tube fed, digests slow, constipation
• Genitourinary: recent UTI due to catheterized for 1 week
• Musculoskeletal: significant hypotonia
• Integumentary: normal
• Neurological: infantile spasms, brain atrophy.  Possible seizure disorder
• Psychiatric: usually does not cry.  Every month Ryli will hyperventilate, turn pale, get cold and clammy, head—arms--legs move uncontrollably and eyes move side to side due to possible pain or seizure then when episode is over, Ryli will nap for hours.

• Endocrine: frequent sweating, difficulty controlling body temperature,

presence of sparse pubic hair

• Hematologic/Lymphatic: normal
• Allergic/Immunologic: nickel
• Unusual body odors: no
• Unusual rashes/skin problems: no
• Unusual hair findings/alopecia: pubic hair
• Unusual lethargy/somnolence: parents report that fatigue is worsening
• Previous MRI showed possible Leukoencephalapathy
• Illnesses appear to be as severe as the average child or sibling.  The patient recovers from illnesses as quickly as the average child or sibling.

Extended Newborn Screening:

Acylcarnitine Profile

Carnitine/Acylcarnitine Translocase Deficiency (Translocase)

Carnitine Palmitoyl Transferase Deficiency Type I (CPT-I)

2.4-Dienoyl-CoA Reductase Deficiency

Long Chain Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHAD)

Medium Chain Acyl-CoA Dehydrogenase Deficiency

Multiple Acyl-CoA Dehydrogenase Deficiency (MADD or Glutaric Acidemia-Type II)

Neonatal Carnitine Palmitoyl Transferase Deficiency-Type II (CPT-II)

Short Chain Acyl-CoA Dehydrogenase Deficiency (SCAD)

Short Chain Hydroxy Acyl-CoA Dehydrogenase Deficiency (SCHAD)

Trifunctional Protein Deficiency (TFP Deficiency)

Very Long Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD)

3-Hydroxy-3-methyiglutaryl-CoA Lyase Deficiency (HMG)

Isobutyryl-CoA Dehydrogenase Deficiency

Isovaleric Acidemia (IVA)

Glutaric Acidemia-type I (GAI)

2-Methylbutyryl-CoA Dehydrogenase Deficiency

3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC Def.)

3-Methylglutaconyl-CoA Hydratase Deficiency

Methylmalonic Acidemias

Mitochondrial Acetoacetyl-CoA Thiolase Deficiency

Propionic Acidemia (PA)

Malonic Aciduria

Multiple CoA Carboxylase Deficiency

Medium Chain Triglyceride (MCT) Oil Administration

Camitine Uptake Deficiency

Results: Within Normal Limits

Amino Acid Profile

Argininemia

Argininosuccinic Aciduria (ASA Lyase Deficiency)

Carbamoylphosphate Synthetase Deficiency (CPS Def.)

Citrullinemia (ASA Synthetase Deficiency)

Homocystinuria

Hypermethioninemia

Hyperammonemia, Hyperornithinemia, Homocitrullimenia (HHH Syndrome)

Hyperornithinemia with Gyral Atrophy

Maple Syrup Urine Disease (MSUD)

5-oxoprolinuria (Pyroglutamic Aciduria)

Phenylketonuria (PKU)

Tyrosinemia

Liver Disease

Hyperalimentation

Results: Within Normal Limits

G5PD DNA analysis

Glucose-6- Phosphate Dehyrogenase Deficiency

DNA analysis was performed for 5 mutations know to cause Glucose-6-hosphate Dehydrogenase Deficienty

Results: Within Normal Limits

CAH 17-OHP

17-alphahydroxyprogesterone

Results: Within Normal Limits

Biotinidase Deficiency

Biotinidase  

Results: Within Normal Limits

Medications:

**Glycopyrrolate 0.5MG/ML Susp (Robinul)

Use anywhere from 0.8 – 1.5 ml (0.5MG) four times daily…Dries out mucus leaving aspirations reduced

You have to play around with the doses daily depending on the wetness of Ryli’s mucus

1ml used with every dose

**FreshKote

1 drop in each eye twice daily

Lubricant eye drops for Ryli’s chronic dry eyes. 

**Celluvisc 0.4mL…Extra thick gel drops for dry eyes (helps protect retna due to incomplete blinking)

1 drop in each eye 4+ times daily

Active Ingredients: Carboxymethylcellulose sodium 1.0%...eye lubricant

**AsaSite

Use 2 weeks ON and 6 weeks OFF…For Ryli’s eyes

Instill one drop in affected eye lids for 2 weeks then stop.  Repeat in 6 weeks

This helps to reduce the amount of styes due to clogged ducts…AsaSite is a macrolide antibiotic indicated for the treatment of bacterial conjunctivitis caused by susceptible isolates of the following microorganisms: CDC coryneform Group G, Haemophilus influenzae, Staphylococcus aureus, Streptococcus mitis group and Streptococcus pneumoniae

Ingredients: 5 mL size bottle filled with 2.5 mL of 1% sterile topical ophthalmic solution

Formula:

**Compleat Pediatric formula

Medical Food Blenderized Tube Feeding 250 Calories Lactose Free

7 ½ - 9 ounces per day & 400-500ml during night

Ingredients per 1- 8.45 fl oz can

Calories 250, Protein 9.4g, Carbohydrate 31.5g, Fat 9.7g, Sodium 170mg, Potassium 380mg, Vitamin A1 830 IU, Vitamin C 24mg, Thiamine 0.64mg, Riboflavin 0.5mg, Niacin 4.0mg, Calcium 250mg, Iron 3.3mg (2mg per kilo’s), Vitamin D 120 IU, Vitamin E 5.4 IU, Vitamin B6 0.62mg, Folic Acid 88mcg, Vitamin B12 1.4mcg, Phosphorus 250mg, Iodine 34mcg, Magnesium 47mg, Zinc 3.0mg, Copper 0.3mg, Biotin 76mcg, Pantothenic Acid 2.4mg, Vitamin K 9.5mcg, Choline 71mg, Chloride 180mg, Manganese 0.56mg, Selenium 13mcg, Chromium 22mcg, Molybdenum 14mcg, L-Carnitine 4.0mg, Taurine 21mg, M-Inositol 19mg.

Includes: Vitamin A activity from Beta Carotene.

**900mL meets or exceeds 100% of the NAS/NRC RDA for protein and essential vitamins and mineral for children 1-10 years of age.

Ingredients: Water, apple juice, hydrolyzed cornstartch, pea puree, beef, green bean puree, sodium and calcium caseinates, high oleic mono and diglycerides, potassium phosphate dibasic, calcium phosphate tribssic, potassium citrate, sodium phosphate dibasic, cellulose gel, calcium hydroxide, magnesium chloride, sodium ascorbate, choline chloride, cellulose gum, taurine, M-inositol, ferrous sulfate, zinc sulfate, alpha tocopheryl acetate, niacinamide, L-carnitine, calcium pantothenate, copper gluconate, manganese sulfate, thiamine hydrochloride, pyridoxine hydrochloride, riboflavin, beta carotene, BHA-BHT (to preserve freshness), vitamin A palmitate, folic acid, chromic acetate, biotin, potassium iodide, sodium molybdate, sodium selenite, phytonadione (vitamin K1), cholecalciferol (vitamin D3), cyanocobalamin (vitamin B12)

Prime all feeds with 1.5 ounces Nursery water:

-vaporized and condensed. The water is then bottled after being filtered through one-micron filters and ozonated. Finally, fluoride, in the amount of up to 0.7 ppm is added.

**Nursery Purified Water w/added Flouride

Purified by steam distillation, filtered and ozonated to ensure quality. Contains purified water with selected minerals (potassium bicarbonate, calcium chloride, magnesium chloride, sodium fluoride) added for taste. Contains up to 0.7 mg/L added fluoride. Mineral amounts are not nutritionally significant                                                                                                    

Ingredients: Calories 0, Total Fat 0g, Sodium 0mg, Total carb 0g, Protein 0g 

Vitamins:

**Multivitamin (Liquimins)

1 teaspoon daily

Calories 10, Total Carbohydrates 2.3g, Sugars (Fructos) 1.1g, Vitamin A (Palmitate) 1250 IU, Vitamin C (Ascorbic Acid) 50mg, Vitamin D3 (Cholecalciferol) 400 IU, Vitamin E (d-a Tocopherol) 10 IU, Vitamin B-1 (Thiamine HCL) 1.5 mg, Vitamin B-2 (Riboflavin) 1.7 mg, Niacin (Niacinamide) 15 mg, Vitamin B-6 (Pyridoxine) 2 mg, Folic Acid 200 mcg, Vitamin B-12 (Cyanocobalamin) 9 mcg, Biotin 75 mcg, Pantothenic Acid (Calcium Pantotheriate) 10 mg, Magnesium (ConcenTrace) 3 mg, Zinc (Gluconate) 5 mg, Manganese (Gluconate) 3 mg, Chloride (ConcenTrace) 7 mg, Sodium (ConcenTrace) 90 mcg, Potassium (ConcenTrace) 50 mcg, ConcenTrace Trace Mineral Complex 31 mg, Choline (Bitartrate 3 mg, Inositol 3mg, Sulfate (ConcenTrace) 540 mcg, Boron (ConcenTrace) 10 mcg

Ingredients: Vitamin A, Vitamin C, Vitamin D-3, Vitamin E, Vitamin B-1, Vitamin B-2, Vitamin B-3, Vitamin B-6, Vitamin B-12, Folic Acid, Biotin, Pantothenic Acid, Choline Bitartrate, Inositol, Manganese, Gluconate, Zinc Citrate, & Ionic Trace Minerals in a liquid base of: Purified Water, Natural Juice Flavor Blend Concentrate (from Pineapple, Orange, Pear, Apple, Natural Flavors), Natural Vegetable Glycerine, Citric Acid, Carageenan Gum, Sodium Benzoate, Potassium Sorbate

(801-731-6051)

**Liquid C

1 tsp daily

Calories 15, Total Carbohydrate 4g, Vitamin C 300mg (from ascorbic acid and calcium ascorbate)

Lemon Bioflavonoids 100mg, Rose Hips Seed Extract 10mg, Rutin 10mg, Hesperidin Complex 10mg, Acerola Fruit Extract 5mg

Other Ingredients: Glycerine, Purified Water, Sorbitol, Lemon Flavor

**Liquid D

1 ml dropper daily

**Children’s Probiotic

1 capsule daily

Serving size 1 capsule

Guaranteed 2 billion viable cells per gram at best before date:

Lactobacillus casei 25%, Lactobacillus rhamnosus 25%, Lactobacillus acidophilus 20%, Lactobacillus plantarum 10%, Streptococcus thermophillus 7%, Bifidobacterium breve 5%, Bifidobacterium bifidum 5%, Lactobacillus bulgaricus 3%

Other Ingredients: Microcrystalline cellulose, magnesium stearate and ascorbic acid, vegetarian capsule made of water and hypromellose (usp.). contains traces of milk and soy

**AquaFlora (candida control program)

1 tsp daily

Children 2-12:  One Tablespoon daily (Ryli takes 1 tsp)

Nervous system:  Depression, anxiety, sudden mood swings, lack of concentration, drowsiness, poor memory, headaches, lightheadedness, insomnia and fatigue.

Digestive system:  Abdominal bloating, pain and gass, indigestion, heartburn, constipation, diarrhea, gastritis, mucus in stool, crave sugar and alcohol.

Urinary / Reproductive / Endocrine system:  Recurrent  bladder infections, burning or urgent urination, cystitis, vaginal burning or itching, menstrual cramping, loss of sexual drive, use of birth control, patch, shot.

Musculoskeletal system:  Muscle and / or joint swelling and pain.

Mouth and Throat:  Bleeding gums, dry mouth and tongue, cracked tongue, thrush, white patches.

Active Ingredient:  Candida Albicans 30C

Inactive Ingredient:  Purified Water

**Juice Plus

1 fruit capsule in a.m. and 1 veggie capsule in p.m.

Fruits

5 calories per serving (serving size 2 capsules)

Sodium 5mg, Total Carbs 1g, Dietary Fiber <1g, Sugars <1g, Protein <1g…Vitamin A (100% beta carotene) 110%, Vitamin C 320%, Calcium 2%, Iron 2%, Vitamin E 70%, Folate 35%

APPLES: A good source of boron, a trace mineral that affects the electrical activity of the brain, increasing mental alertness and boosting estrogen in postmenopausal women. Helps reduce cholesterol and contains many cancer-fighting phytochemicals. High in fiber

ACEROLA CHERRIES: source of Vitamin C, known to relieve symptoms of osteoarthritis

CRANBERRIES: Strong antibiotic and antiviral. Removes poisons and infectious bacteria from cells lining the bladder and urinary tract. Helps prevent bladder infections

ORANGES: Contain every class of cancer inhibitor known, like beta carotene, terpenes and flavonoids. Rich in Vitamin C. May help ward off asthma attacks, bronchitis, breast cancer, stomach cancer and gum disease

PAPAYAS: A rich source of papain and boron. Contains powerful antioxidants, vitamin C and beta carotene. Source or vitamin A and potassium; helps digestion

PEACHES: Contains boron which aids in calcium absorption. Rich in antioxidants, such as beta carotene and vitamin C

PINEAPPLES: High in manganese, making it good For preventing osteoporosis and bone fractures. High in bromelain, which is a protease with antiinflammatory, anti-edema properties. Aids digestion. Helps dissolve blood clots. Antibacterial, antiviral. Helps menopause

ENZYME BLEND: Bromelain, Papain, Lipase, Amylase, Protease, Cellulase

SOLUBLE AND INSOLUBLE FIBERS: Apple Pectin, Citrus Pectin, Date Fiber, Prune Powder, glucomannan, Dried Plant Fiber. Cleanses the system, lowers cholesterol and blood pressure. Fights cancer, heart disease, obesity

LACTOBACILLUS ACIDOPHILUS: Naturally occurring bacteria found in the intestinal tract. Enhances digestion

OTHER FOOD ACTIVES: Citrus Bioflavonoids, Anthocyanins, Protease, Cellulase. Anthocyanins, Polyphenol Catechins, Dunaliella Salina, Indole Carbinols

Vegetables

5 Calories per serving (serving size 2 capsules)

Sodium 10mg, Total Carbs 1g, Dietary Fiber <1g, Sugars <1g, Protein <1g, Vitamin A (100% as beta carotene) 140%, Vitamin C 70%, Calcium 4%, Iron 2%, Vitamin E 80%, Folate 70%

BEETS: High in folic acid, an antidepressant. Contains iron, calcium, potassium. Enhances liver and gallbladder function, builds blood corpuscles and cells. Stimulates lymph glands. Anticancer

BROCCOLI: Contains many anticancer substances such as beta carotene, vitamin C and indoles. Helps keep cholesterol levels steady and protects the heart. Contains as much calcium per serving as milk. antiviral activity. A super source of chromium, which helps regulate insulin and  lood sugar. Speeds up removal of estrogen which suppresses breast cancer. Anti-ulcer

CABBAGE: Contains numerous antioxidants. Thought to help block breast cancer and suppress growth of polyps. In studies, eating cabbage more than once per week cut colon cancer odds 66%. Helps speed up estrogen and metabolism. Anticancer, antiulcer, antibacterial, antiviral

CARROTS: A super food source for beta carotene, a powerful anticancer, artery-protecting, immuneboosting, infection fighting antioxidant. Fights heart and eye disease. A carrot per day cuts stroke rates in women by 68%

KALE: Powerful disease-fighting vegetable. A rich Source of many antioxidants. Super food source for beta carotene, indoles, 50% more calcium than milk. Powerful cancer disease fighter

PARSLEY: Anticancer due to its high concentrations of antioxidants, e.g. monoterpenes, phthalides, polyacetylenes. Helps neutralize carcinogens in tobacco smoke. Has diuretic activity. May reduce plaque in arteries and help prevent unhealthy blood clotting. Rich source of folic acid.  good for the heart and immune system. Lowers blood pressure

SPINACH: Food most eaten by people who don’t get cancer. Rich source of antioxidants and cancer antagonists. Rich in fiber. Lowers blood cholesterol

TOMATO: A rich source of lycopenes, a powerful antioxidant linked to lower rates of skin, pancreatic, stomach, bladder and prostate and cervical cancer

ENZYME BLEND: Lipase, Amylase, Protease, Cellulase

SOLUBLE AND INSOLUBLE FIBERS: Beet Fiber, Barley Bran (no gluten), Oat Bran (no gluten), Cabbage Fiber, Glucomannan, Plant Cellulose, Dried Plant Fiber. Cleanses digestive tract. Lowers blood pressure and cholesterol. Fights cancer and heart disease

LACTOBACILLUS ACIDOPHILUS: Naturally occurring bacteria found in the intestinal tract. Enhances digestion

OTHER FOOD ACTIVES: Anthocyanins, Allicin, Lycopene, Polyphenol Catechins, Dunaliella Salina, Indole Carbinols

Medications used Occasionally:

**Albuterol 90 mcg per each spray… Inhalation Aerosol…Use 2 puffs morning and 2 puffs night when sick

**Chloral Hydrate 500MG/5ML Syrup

Give 3-4ml in evening for sedation if needed.  Ryli can break through easily so give at bedtime.  Sedation usually takes place after 10 minutes of putting through Gtube.

Use ONCE before bed.  Cannot have more than once