Health OverviewGREGORIO, FOR CROWDMED

Timeline Pre-1992 – Generally healthy. Allergies (dust, mold, ragweed). Had “nervous stomach” in college.

1992-1998 – Had major dental work done. Root canal that became infected. On multiple courses of antibiotics. Developed initial symptoms of “foggy head” and head pressure + IBS. Symptoms were episodic. Identified sulfite sensitivity. Nothing provided relief.

1998-2008 – Switched to MD in integrative medicine practice (alternative). Pursued candida, allergies (drops, shots) and elevated mercury. Amalgam fillings removed by top practitioner in 2003. Root canals removed, 2004.

2008-Present – Started with current Primary physician. After many tests and remedies – still highly symptomatic.

Chronic Toxic Hangover Gut/head symptoms started in 1992. The current pattern with eczema, burning gut, impaired cognition, etc. emerged in 2006-2007. Has been chronic since 2008 with increasing frequency and severity. At night, every night and morning. Severity can vary. Not locational (have home in another state, travel for business, have tried different beds…….).

Burning sensation in upper abdomen – not related to position. Can have different amplitude of severity. Level 1 – dull burning, Level 2 – gastritis-like churning.

Encephalopathy – delirium-like, toxic feeling. Can start within minutes of laying down – sleep can be very restless. Waking up is difficult- like having a bad hangover. Bad breath upon waking.

Other Symptoms Daytime:

Burning gut, 80% of the time subsides upon getting up, shower, breakfast - as do the worst of the encephalopathy symptoms.

18 % of the time, Level 1 burning persists. 2% of the time Level 2 gastritis persists or flares during the day combined with impaired mentation – difficulty focusing, irritability.

Level 2 gastritis is often paired with a flare of eczema, mostly on torso/belly/back – sometimes on shins, face and scalp.

Exercise makes it worse I actually feel great when I am doing it (mostly just cycling or skiing) but then within hours, my toxic feeling is worse as is the nighttime/morning hangover. Have not been able to do regular exercise or workouts for several years. Other than walking the dog around the block – am sedentary. Gained 25 lbs. over past 3 yrs.

Severe reaction to Sulfites

Back in the ‘90’s, early into the symptoms of “IBS” and gastro-intestinal problems, I would periodically get severe fulminant diarrhea after eating out. After an elimination diet – I found that the trigger was sulfites (wine, balsamic vinegar, concentrate lemon or lime juice). This was confirmed by a double blind test Lahey Clinic. I make all attempts to avoid foods with sulfites but still sometimes have a severe fulminant diarrhea reaction. In recent years, recovery from a sulfite reaction can take days and on four occasions has been coupled with a cardiac episode – BP increase – chest discomfort that has taken me to the ER (Aug ’04, May ‘13, Oct ’13, Nov ’14, May ‘15).

= AndSometimes

Nasty Bowel Movement I typically have two “normal” bowel movements per day. Periodically (and without a known trigger), I will have a “nasty” bowel movement that is loose and large (emptying). Not as severe as the Sulfite Reaction.

Immediately after the bowel movement, I experience Level 2 gastritis combined with impaired mentation and general malaise and tiredness. I will often feel the need to lay down at which time the toxic gut kicks in.

Feeling usually lasts for ½ day. BM’s usually return to normal.

Eczema Started getting bad flares of a rash on my torso and scalp. See dermatologist and a 2007 biopsy confirmed that it was eczema. Generally responds to cortisone.

November 2013 November 2014

Serum Ammonia Testing In 2010, Primary tested me for serum ammonia. It was high (95).

Quest Lab results have consistently been high and do not correlate with other labs.

Evaluated for UCD at MGH in Dec. 2010 and again at Children’s Hospital (Dr. Berry), Nov. 2013. Also evaluated for other metabolic disorders at MGH (Dr. Kara) June 2014. All proved to be negative.

7/16/15 we did three tests that call into question tests from Quest which were transported to lab.

Date Lab Ammonia LevelCompared to Normal Range

Reference Range

7/16/2015* Quest 45 Normal <=50 *All tests done in 7/16/2015* Mt. Auburn 15 Normal 9 to 30 3 hr. window7/16/2015* Umass Med Lab 36 Normal <=50

6/24/15 Quest 67 High <=50 6/2/15 Quest 77 High <=50

9/18/14 Quest 43 Normal <=47 7/30/14 Mt. Auburn 23 Normal 9 to 30 6/30/14 Quest 67 High <=47 4/22/14 Mt. Auburn 15 Normal 9 to 30 4/15/14 Quest 76 High <=47

1/7/14 Boston Children's 26 Low 28 to 80 12/17/13 Boston Children's 75 Normal 28 to 80 10/17/13 Boston Children's 43 Normal 28 to 80

10/8/13 Boston Children's 29 Normal 28 to 80 9/28/13 Mt. Auburn 9 Low 9 to 30 9/27/13 Quest 77 High <=47 7/11/13 Quest 73 High <=47

7/9/13 Quest 100 High <=47 8/29/12 Quest 111 High <=47 5/29/11 Lahey Clinic 17 Normal 11 to 35 1/28/11 Lahey Clinic 1 Low 11 to 35 1/20/11 Lahey Clinic 14 Normal 11 to 35

1/5/11 Quest 127 High <=47 12/23/10 Mass General 20 Normal 12 to 48

12/2/10 Quest 55 High <=47 11/24/10 Quest 62 High <=47

11/4/10 Quest 95 High <=47

Genetic Testing Dr. Barry ordered a genetic panel for UCD and elevated ammonia. GeneDx performed the testing in Dec. 2013.

Result:

Gene cDNA Variant Zygosity Classification

ACADS c.625 G>A p.Gly209Ser(G209S)

Heterozygous Disease associated variant

Cholesterol Cholesterol was normal. Sept 2013 testing showed high levels. Am on Fenofibrate.

Date Lab Total LDL HDL Triglyceride Non-HDL < 200 < 100-130 > 40 < 150

8/6/15 Mt. Auburn Lab 230 134 49 235 off Feno for 4 days6/23/15 Quest 241 159 45 183 196

5/7/15 Mt. Auburn ER 208 136 39 168 11/24/14 Mt. Auburn ER 209 125 44 202

9/18/14 Quest 269 183 45 205 224 8/31/14 BostonHeart 241 170 35 260 206 19-Aug Quest 261 N/A 33 478 228

3/17/14 Quest 258 159 40 294 1/7/14 Quest 263 180 38 226

11/14/13 Quest 286 171 33 446 Not fasting9/26/13 Quest 314 N/A 42 519

11/30/06 MC 190 110 52 138 2008 LC 231 54 2007 MC 194 111 53 154 2006 LC 173 49 2004 LC 187 120 48 97 2002 LC 187 127 35 126

Test History – pg.1 1992 June Head CT - Salem Hospital1993 Dec Upper GI – Lahey, Dr. Glick1994 Jan Ultrasound – Lahey1994 Feb Abdominal CT - Lahey1995 8-Feb Sigmoidoscopy - Lahey2004 8-Apr Colonoscopy, small polyp removed, negative, Dr. Glick2004 Sept Strees Test – Lahey (post cardiac episode)2006 Mar Head CT - Lahey (snowboard fall)2007 Sept Dr. Treloar, skin biopsy = eczema2009 23-Dec Liver/spleen scan - Milton Hospital2010 23-Dec Urea Cycle Test @ Mass General2011 4-Mar Gastroscopy, Carney Hospital, Dr. Fiore2011 8-Oct Abdominal CT w/contrast - Milton Hospital2011 4-Nov Colonoscopy, Carney Hospital, Dr. Fiore2012 17-Feb Gastroscopy, Carney Hospital, Dr. Fiore2012 8-Jun Gastroscopy, Carney, Dr. Fiore – referral to NEMC for duodenal polyp2012 July Pill Cam, Dr. Fiore2012 10-Oct NEMC - Duodenal Polypectomy (Dr. Guelrud)2012 14-Oct UGI Bleed - Head laceration - Admission to Toronto General2012 15-Oct GI bleed repair - Toronto General2013 June NEMC Endoscopy (Dr. Guelrud)2013 Summer Urea Cycle Defect - Testing at Children's (Dr. Berry)2013 Sept Liver Scan - Milton Hospital2013 Nov Children's Head MRI2014 May Abdominal CT w/contrast - Mt. Auburn Hospital2014 June See Dr. Karaa - MGH - tests for metabolic abnormality2014 June Ultrasound of Testacles - Beth Israel2014 ??? Stress Test - BI Milton2014 Sept Gastric Emptying Test - BI Milton2014 Oct Gastroscopy & Bravo Test - Beth Israel

Test History – pg.2 2014 Cardiac episode - ECG in ER -normal2015 EEG - normal2015 Liver Fibroscan - Normal2015 American Gut Project - Microbiome (very high Proteobacteria, low Bacteroidetes )2015 Sleep Study - mild sleep apnea, moderately severe periodic limb movement2015 Cardiac Episode - ECG, Echo, SPECT Scan, Stress Test - all normal2015 Abdominal Ultrasound - Normal

Other Have tried yoga (helpful), meditation, cranial-sacral massage, network chiropractic, homeopathy, energy medicine, acupuncture (briefly).

1971 (age 12) – summer, very bad illness, high fever (ice baths), labeled “viral pneumonia” – multiple rounds of medications - antibiotics.

1997 – Campylobacter Infection, treated with antibiotics.

2006 – trained for and rode 150 mile, 2-day charity bike ride (Alzheimer’s Memory Ride). Completed ride but took a lot out of me and recovery was very long.