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Public Profile -- huD7960A

Public profile url: https://my.pgp-hms.org/profile/huD7960A

Personal Health Records

Demographic Information

Date of Birth1951-05-16 (66 years old)
GenderMale
Weight166lbs (75kg)
Height5ft 8in (172cm)
Blood TypeO+
RaceWhite

Conditions

Name Start Date End Date
Abnormal EKG
Astigmatism
Benign Prostatic Hypertrophy (BPH)
Bruxism
Diabetes mellitus, type 2
HYPERCHOLESTEROLEMIA
Hypokalemic Periodic Paralysis
Knee Injury
Kyphosis
Nearsightedness
Sleep Apnea
Strabismus
Temporomandibular Joint (TMJ) Disorder

Medications

Name Dosage Frequency Start Date End Date
Acetazolamide
Byetta
INSPRA
Niacin
Niacinamide
Potassium Chloride
SYMLIN

Allergies

Name Reaction/Severity Start Date End Date
Barbiturates Severe
Epinephrine Severe
Halothane Severe
Pentothal Severe
Succinylcholine Severe

Procedures

Name Date
Barium Swallow X-Ray
Breathing Treatment
Chest X-Ray
Contact Lens Fitting
Continuous Positive Airway Pressure (CPAP)
CT Head - With and Without Contrast
CT Maxillofacial
Dental X-Rays
Echocardiogram
Head and Face Reconstruction
Head CT scan
Head MRI
Head X-Ray
Heart angiogram
Knee Arthroplasty
MR Knee - With Contrast
Nasal Septum Repair
Open Repair - Palatal or Maxillary Fracture (LeFort I)
Skull X-Ray
Sleep apnea surgery (UPPP)
Strabismus Repair
Teeth X-Rays
Thallium Stress Test
Tonsillectomy
Upper Endoscopy
Upper GI Series
Vision test (refraction)

Test Results

Name Result Date
Height 68 inches 2010-08-01
Weight 2656 ounces 2010-08-01

Immunizations

Name Date
Flu Shot 2010-01-01
Flu Shot 2009-01-01
Flu Shot 2008-01-01
Influenza Vaccine, Type Unknown 2010-01-01
Influenza Vaccine, Type Unknown 2009-01-01
Influenza Vaccine, Type Unknown 2008-01-01
Pneumococcal Vaccine, Type Unknown 2009-01-01
Poliovirus Vaccine, Type Unknown 1958-01-01
Smallpox (Vaccinia) Vaccine 1954-01-01
Tetanus Toxoid, Unknown Type 2005-01-01

Updated: 2010-10-18T03:40:20.508Z

Samples

Saliva Collection Pilot Study for 100 participants Sample 93782268 (saliva) received 2011-10-26 20:48:20 UTC by Harvard University.   Show log
2012-04-12 21:02:29 UTC Harvard University / TeloMe, Inc. A new sample 15920302 was derived from this sample
2011-10-26 20:48:30 UTC Harvard University Sample transferred to plate 4504234 (id=3) well E06 (id=54)
2011-10-26 20:48:20 UTC Harvard University Sample received by researcher (scan)
2011-09-06 22:34:58 UTC huD7960A Sample returned to researcher
2011-08-30 21:55:55 UTC Sample received by researcher (scan)
2011-08-17 01:42:15 UTC huD7960A Sample returned to researcher
2011-08-15 05:13:56 UTC huD7960A Sample received by participant
2011-08-02 15:09:29 UTC Harvard University / TeloMe, Inc. Sample sent
2011-08-02 04:03:14 UTC Harvard University / TeloMe, Inc. Sample created
Sample 83887529 (saliva) received 2011-09-13 19:03:13 UTC by Harvard University.   Show log
2012-04-12 21:02:09 UTC Harvard University / TeloMe, Inc. A new sample 68528770 was derived from this sample
2011-09-13 19:03:19 UTC Harvard University Sample transferred to plate 30097989 (id=2) well E06 (id=54)
2011-09-13 19:03:13 UTC Harvard University Sample received by researcher (scan)
2011-09-06 22:34:59 UTC huD7960A Sample returned to researcher
2011-08-30 21:55:24 UTC Sample received by researcher (scan)
2011-08-17 01:42:15 UTC huD7960A Sample returned to researcher
2011-08-15 05:13:56 UTC huD7960A Sample received by participant
2011-08-02 15:09:29 UTC Harvard University / TeloMe, Inc. Sample sent
2011-08-02 04:03:14 UTC Harvard University / TeloMe, Inc. Sample created
Sample 1097838 (saliva) received 2011-09-09 20:01:00 UTC by Harvard University.   Show log
2012-04-12 21:01:46 UTC Harvard University / TeloMe, Inc. A new sample 32048648 was derived from this sample
2011-09-09 20:01:05 UTC Harvard University Sample transferred to plate 87023884 (id=1) well E06 (id=54)
2011-09-09 20:01:00 UTC Harvard University Sample received by researcher (scan)
2011-09-06 22:34:59 UTC huD7960A Sample returned to researcher
2011-08-30 21:57:28 UTC Sample received by researcher (scan)
2011-08-17 01:42:15 UTC huD7960A Sample returned to researcher
2011-08-15 05:13:56 UTC huD7960A Sample received by participant
2011-08-02 15:09:29 UTC Harvard University / TeloMe, Inc. Sample sent
2011-08-02 04:03:14 UTC Harvard University / TeloMe, Inc. Sample created
Saliva Collection for Multiple Studies Sample 99089815 (saliva) received 2012-02-24 21:08:04 UTC by Harvard University / TeloMe, Inc..   Show log
2012-04-12 21:06:24 UTC Harvard University / TeloMe, Inc. A new sample 86557667 was derived from this sample
2012-02-24 21:08:09 UTC Harvard University / TeloMe, Inc. Sample transferred to plate 39248830 (id=15) well B01 (id=13)
2012-01-24 02:06:16 UTC huD7960A Sample returned to researcher
2012-01-24 02:05:36 UTC huD7960A Sample received by participant
2011-12-17 15:04:34 UTC Harvard University / TeloMe, Inc. Sample sent
2011-12-08 16:47:39 UTC Harvard University / TeloMe, Inc. Sample created
Sample 16393670 (saliva) received 2012-02-24 20:30:31 UTC by Harvard University / TeloMe, Inc..   Show log
2012-04-12 21:06:47 UTC Harvard University / TeloMe, Inc. A new sample 13052837 was derived from this sample
2012-02-24 20:30:34 UTC Harvard University / TeloMe, Inc. Sample transferred to plate 23452852 (id=16) well B01 (id=13)
2012-01-24 02:06:16 UTC huD7960A Sample returned to researcher
2012-01-24 02:05:36 UTC huD7960A Sample received by participant
2011-12-17 15:04:34 UTC Harvard University / TeloMe, Inc. Sample sent
2011-12-08 16:47:39 UTC Harvard University / TeloMe, Inc. Sample created
Boston, MA blood collection September 20, 2014 Sample 42212428 (whole blood) mailed 2014-09-20 21:00:00 UTC by huD7960A.   Show log
2014-09-20 22:30:00 UTC Harvard University / TeloMe, Inc. Sample shipped to CGI
2014-09-20 21:00:00 UTC Harvard University / TeloMe, Inc. Sample received by researcher
2014-09-20 21:00:00 UTC huD7960A Sample returned to researcher
2014-09-20 13:00:00 UTC huD7960A Sample received by participant
2014-09-19 20:07:38 UTC Harvard University / TeloMe, Inc. Sample created
Sample 31503542 (whole blood) mailed 2014-09-20 21:00:00 UTC by huD7960A.   Show log
2014-09-20 21:00:00 UTC Harvard University / TeloMe, Inc. Sample received by researcher
2014-09-20 21:00:00 UTC huD7960A Sample returned to researcher
2014-09-20 13:00:00 UTC huD7960A Sample received by participant
2014-09-19 20:07:38 UTC Harvard University / TeloMe, Inc. Sample created

Uploaded data

Date Data type Source Name Download Report
2017-03-14 Complete Genomics PGP huD7960A: var-GS000039821-ASM.tsv.bz2 Download
(1.2 GB)
View report
• male
• 2,757,636,620 positions covered
• ref. b37
23andMe Participant LK6980.bai Download
(6.2 MB)
23andMe Participant LK6980.vcf.gz Download
(6.98 MB)
23andMe Participant LK6980.report.pdf Download
(758 KB)
23andMe Participant LK6980.bam Download
(10.8 GB)
2012-06-23 23andMe Participant 23andme-exome-6-23-2012-huD7960A.vcf.gz Download
(6.55 MB)
View report
• male
• 108,376 positions covered
• ref. b37
2011-07-26 23andMe Participant genome____Full_20110726145412.txt Download
(23.8 MB)
View report
• male
• 960,522 positions covered
• ref. b36

Geographic Information

State:California

Family Members Enrolled

None added.

Surveys

PGP Participant Survey Responses submitted 7/16/2011 13:03:26. Show responses
Timestamp 7/16/2011 13:03:26
Year of birth 60-69 years
Which statement best describes you? I am comfortable making my genome sequence data publicly available without prior review.
Severe disease or rare genetic trait Yes
Do you have a severe genetic disease or rare genetic trait? If so, you can add a description for your public profile. I have a disorder that falls within the phenotype of a severe form of hypokalemic periodic paralysis. It seems to have an autosomal dominant pattern on my father's side of the family, and includes daily weakness and loss-of-consciousness episodes coming from food. For me, there is also documented full-body paralysis including full breathing paralysis (causing an emergency) and many other abnormal and severe reactions to many common hospital medications. Like other forms of hypokalemic periodic paralysis, the age of onset of the symptoms for me was at 20 years of age. The next generation in the family is now beginning to be affected. Unlike other forms of PP, my symptoms include cardiac symptoms, CNS symptoms and pancreatic symptoms, all in response to food. There are many severe medication reactions, of course. I have had genetic tests for the most common genes for periodic paralysis, but these tests were negative, likewise negative tests for the common pseudocholinesterase deficiency genes. I have been told that the cause is most likely a "medically new" channelopathy. If so, it is currently undiscovered. My own feeling is that the disorder is more severe for me because of the effects of several genes, not just one gene. In particular, I suspect the main abnormality is in genes that are directly or indirectly involved in the potassium ATP channels, which could explain why I have such severe symptoms.
Disease/trait: Onset 20-29 years of age
Disease/trait: Rarity Very rare/uncommon
Disease/trait: Severity Very severe disease
Disease/trait: Relative enrollment Yes, I have one or more affected relatives who have expressed an interest
Disease/trait: Diagnosis Yes
Disease/trait: Genetic confirmation No
Disease/trait: Documentation Yes
Disease/trait: Documentation description 1. I have a letter from the anesthesiologist who describes one of my paralytic reactions that caused breathing paralysis, and what he did about it. 2. I have EKG's from a Holter test that document unusual cardiac reactions. Before eating, the EKG looked very good and the heart rate was 60 bpm. After eating, tachycardia took place, where the resting heart rate rose to 128 bpm and there were many arrhythmias and irregularities. The EKG's didn't even look like EKG's anymore. The episodes lasted for about 5 hours, slowly subsiding almost to normal again at the end, but then it was time for the next meal. Because there were three meals, about five hours apart, there were fifteen hours of abnormal EKG patterns, all subisiding by the end of the 5 hour interval, recorded on the Holter.
Sex/Gender Male
Race/ethnicity White
Maternal grandmother: Country of origin Hungary
Paternal grandmother: Country of origin Ukraine
Paternal grandfather: Country of origin Ukraine
Maternal grandfather: Country of origin Russian Federation
Enrollment of relatives No
Enrollment of older individuals Yes
Enrollment of parents No
Have you uploaded genetic data to your PGP participant profile? No, but I have genetic data and plan to upload it
Have you used the PGP web interface to record a designated proxy? Yes
Have you uploaded health record data using our Google Health or Microsoft Healthvault interfaces? Yes
Uploaded health records: Update status Yes
Uploaded health records: Extensiveness 3
Blood sample Yes
Saliva sample Yes
Microbiome samples Yes
Tissue samples from surgery Yes
Tissue samples from autopsy Yes
PGP Participant Survey Responses submitted 8/24/2012 18:48:34. Show responses
Timestamp 8/24/2012 18:48:34
Year of birth 60-69 years
Which statement best describes you? I am comfortable making my genome sequence data publicly available without prior review.
Severe disease or rare genetic trait Yes
Do you have a severe genetic disease or rare genetic trait? If so, you can add a description for your public profile. I have been diagnosed with hypokalemic periodic paralysis, which affects about 1 in 100,000 people. HypoK-PP is an ion channel disorder that dangerously manifests with the use of hospital medications but also in response to food and the body's own internal chemistry. About 70% of HypoK-PP patients have a known genetic mutation. I am in the 30%, where the mutations are not found yet. My variant was said to be "new" in that it frequently includes a loss-of-consciousness component as well as paralysis and weakness in the episodes. In HypoK-PP, an abnormal amount of potassium shifts into the cells, losing the potential difference that the cells need to function. It means that muscles can't contract in a full blown attack or can't easily contract in a partial attack. In my case it includes daily paralytic and weakness reactions to food, and dangerous unexpected paralytic responses to medications in the hospital, for instance, where I am unexpectedly paralyzed and unable to move, including breathing muscles. I could not call out, gesture or push a button to tell anyone that I was in trouble. Luckily, unknown to me, my oxygen status was being monitored. After I lost consciousness due to anoxia, the team came in and provided mechanical breathing assistance. My breathing was not back to normal for several days. This is not the only hospital emergency like this that I have experienced -- this team was trying their hardest to avoid this type of problem, but we had the problem anyway. Episodes started in my late teens (1970) in response to food, where I would become incapacitated for 72 hours (three days) after many of my meals. With a carefully controlled diet, I was able to shorten the episodes, but not eliminate them. On a Holter monitor (in 2009) the EKG components of my episodes were measured. Starting in a fasting state, my EKG is normal, or even good, with a pulse rate of about 59 beats per minute. Within a half hour the episode is apparent, with many PVC's (premature ventricular contractions), other arrhythmias, and then tachycardia, going up to a resting pulse rate of about 128 bpm. The EKG's also showed breathing difficulty. That day the episodes resolved in about five hours, where the pulse rate slowly came back to normal. But then a new episode came on because it was time for the next meal. So the 24 hour Holter showed 15 hours of abnormal EKG's, in response to food, slowly resolving in five hours each, that day. I am otherwise very healthy, but these daily episodes are very bothersome and severely limit my quality of life.
Disease/trait: Onset 10-19 years of age
Disease/trait: Rarity Very rare/uncommon
Disease/trait: Severity Very severe disease
Disease/trait: Relative enrollment Maybe
Disease/trait: Diagnosis Yes
Disease/trait: Genetic confirmation No
Disease/trait: Documentation Yes
Disease/trait: Documentation description 1. I have excerpts from the 2009 Holter data that show the EKG's in response to food. 2. I have strength tests over time, first without HypoK-PP medication and then with HypoK-PP medication (walking speed on elevated treadmill, etc.) Many of these medications become ineffective after about about six to twelve weeks. 3. Finally, I have extensive results from a "provocative test" that was performed in my cardiologist's office. It is similar to a modified glucose tolerance test, where carbohydrates were ingested, and then, over time, various measurements are taken. Measurements included strength (walking speed on treadmill), serum glucose, serum insulin, serum potassium, also comments by cardiologist over time. There were some very unusual results -- my fasting insulin levels started at about 8% of normal (I started at around 0.6 microunits per ml, where normal fasting insulin is about 7.0 microunits per ml). After ingestion of glucose, when the insulin levels first rose to be about 1 microunit per ml, I lost 1/4 of my walking speed, and was barely able to walk by the time insulin levels rose to 5 microunits per ml. In normal subjects, postprandial insulin levels can easily go up to 140 microunits per ml. Mine rose up to about 35 microunits per ml. I was not "ok" again until the insulin levels fell down below 3.0 microunits per ml. The potassium shift into the tissues, out of the blood, was documented in response to the glucose ingestion, falling from 4.2 mEq down to 3.5, and then coming up to 3.9 -- all in the normal range. There were PVC's and arrhythmias during the test, too. This was not a severe attack, since I could still walk and did not lose consciousness -- in other attacks I can't move at all and also lose consciousness.
Sex/Gender Male
Race/ethnicity White
Maternal grandmother: Country of origin Hungary
Paternal grandmother: Country of origin Ukraine
Paternal grandfather: Country of origin Russian Federation
Maternal grandfather: Country of origin Russian Federation
Enrollment of relatives No
Enrollment of older individuals No
Enrollment of parents No
Have you uploaded genetic data to your PGP participant profile? Yes, I have uploaded genetic data
Have you used the PGP web interface to record a designated proxy? Yes
Have you uploaded health record data using our Google Health or Microsoft Healthvault interfaces? Yes
Uploaded health records: Extensiveness 3
Blood sample Yes
Saliva sample Yes
Tissue samples from surgery Yes
Tissue samples from autopsy Yes
PGP Trait & Disease Survey 2012: Cancers Responses submitted 3/4/2014 6:06:49. Show responses
Timestamp 3/4/2014 6:06:49
Have you ever been diagnosed with one of the following conditions? Lipoma
Other condition not listed here? hypokalemic periodic paralysis
PGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity Responses submitted 3/4/2014 6:09:22. Show responses
Timestamp 3/4/2014 6:09:22
Have you ever been diagnosed with any of the following conditions? Diabetes mellitus, type 2
PGP Trait & Disease Survey 2012: Blood Responses submitted 3/4/2014 6:10:29. Show responses
Timestamp 3/4/2014 6:10:29
PGP Trait & Disease Survey 2012: Nervous System Responses submitted 3/4/2014 6:12:20. Show responses
Timestamp 3/4/2014 6:12:20
Have you ever been diagnosed with one of the following conditions? Muscular dystrophy
Other condition not listed here? hypokalemic periodic paralysis (type of muscular dystrophy)s
PGP Trait & Disease Survey 2012: Vision and hearing Responses submitted 3/4/2014 6:13:42. Show responses
Timestamp 3/4/2014 6:13:42
Have you ever been diagnosed with one of the following conditions? Myopia (Nearsightedness), Astigmatism, Presbyopia, Strabismus, Floaters, Congenital nystagmus, Tinnitus
PGP Trait & Disease Survey 2012: Circulatory System Responses submitted 3/4/2014 6:15:09. Show responses
Timestamp 3/4/2014 6:15:09
Have you ever been diagnosed with one of the following conditions? Hypertension, Mitral valve prolapse, Premature ventricular contractions, Cardiac arrhythmia, Raynaud's phenomenon
PGP Trait & Disease Survey 2012: Respiratory System Responses submitted 3/4/2014 6:16:19. Show responses
Timestamp 3/4/2014 6:16:19
Have you ever been diagnosed with any of the following conditions? Deviated septum, Chronic sinusitis, Chronic tonsillitis, Allergic rhinitis
PGP Trait & Disease Survey 2012: Digestive System Responses submitted 3/4/2014 6:18:20. Show responses
Timestamp 3/4/2014 6:18:20
Have you ever been diagnosed with any of the following conditions? Impacted tooth, Dental cavities, Temporomandibular joint (TMJ) disorder, Canker sores (oral ulcers), Gastroesophageal reflux disease (GERD), Inguinal hernia, Hiatal hernia
PGP Trait & Disease Survey 2012: Genitourinary Systems Responses submitted 3/4/2014 6:19:09. Show responses
Timestamp 3/4/2014 6:19:09
Have you ever been diagnosed with any of the following conditions? Benign prostatic hypertrophy (BPH)
PGP Trait & Disease Survey 2012: Skin and Subcutaneous Tissue Responses submitted 3/4/2014 6:20:34. Show responses
Timestamp 3/4/2014 6:20:34
Have you ever been diagnosed with any of the following conditions? Dandruff, Allergic contact dermatitis, Skin tags, Hair loss (includes female and male pattern baldness), Acne
PGP Trait & Disease Survey 2012: Musculoskeletal System and Connective Tissue Responses submitted 3/4/2014 6:22:02. Show responses
Timestamp 3/4/2014 6:22:02
Have you ever been diagnosed with any of the following conditions? Chondromalacia patella (CMP), Achilles tendonitis, Postural kyphosis
PGP Trait & Disease Survey 2012: Congenital Traits and Anomalies Responses submitted 3/4/2014 6:24:02. Show responses
Timestamp 3/4/2014 6:24:02
Have you ever been diagnosed with any of the following conditions? Ehlers-Danlos syndrome
PGP Basic Phenotypes Survey 2015 Responses submitted 8/30/2015 22:29:40. Show responses
Timestamp 8/30/2015 22:29:40
1.1 — Blood Type O +
1.2 — Height 5'8"
1.3 — Weight 165
1.4 — Comments strong tendency to gain weight -- have been 245 lbs previously. Severe lifestyle changes bring me down to 165 lbs.
2.1 — Left Eye (Photograph Number) (full-size image: https://goo.gl/XQ2Voh) 5
2.2 — Right Eye (Photograph Number) (full-size image: https://goo.gl/XQ2Voh) 5
2.3 — Left Eye Color - Text Description dark green, with thin brown core
2.4 — Right Eye Color - Text Description same
2.5 —Comments My three sisters have blue eyes like my father. I have eyes that match my mother's, a type of hazel which is dark green with a thin brown core. At birth I had blue eyes.
3.1 — What is your natural hair color currently, when without artificial color or dye? brown
3.2 — Hair Color - Text Description Dark Brown.
3.3 — Comments My hair is wilder and more difficult to control than other people's -- neither curly nor straight, and with more inconsistent behavior.
1.4 — Handedness Right

Absolute Pitch Survey [see all responses]

Can tell if notes are in tune: Yes
Can sing a melody on key: Yes
Can recognize musical intervals: Yes
Do you have absolute pitch? No

Enrollment History

Participant ID:huD7960A
Account created:2010-07-05 04:57:14 UTC
Eligibility screening:2010-07-05 05:09:01 UTC (passed v2)
Exam:2010-07-05 19:28:31 UTC (passed v2)
Consent:2015-08-06 14:29:44 UTC (passed v20150505)
Enrolled:2010-10-10 16:28:52 UTC