Personal Genome Project: huD7960A

Public Profile -- huD7960A

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

Personal Health Records

Demographic Information

Date of Birth	1951-05-16 (74 years old)
Gender	Male
Weight	166lbs (75kg)
Height	5ft 8in (172cm)
Blood Type	O+
Race	White

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

Uploaded data

Date	Data type	Source	Name	Download
	23andMe	Participant	LK6980.vcf.gz	Download (6.98 MB)
	23andMe	Participant	LK6980.report.pdf	Download (758 KB)
	23andMe	Participant	LK6980.bai	Download (6.2 MB)
	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)
2011-07-26	23andMe	Participant	genome____Full_20110726145412.txt	Download (23.8 MB)

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

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 14:06:26 UTC (passed v20150505)
Enrolled:	2010-10-10 16:28:52 UTC