thecainfoundation

Hi Friends,

I am looking at conducting my own little Research Project here. Please help me out.

I would like each person to write down their;

* Date of Birth
* Country Located
* Your EXACT symptoms of BOR
* Family Members with BOR
* Their dates of Birth
* Their EXACT symptoms of BOR

I will let this run for a few months and then start to analyise the data. No names are needed unless you wish to add them, its completely optional. The results will be tabled and added to the site for future refernce.

Please help all BOR patients by filling this in.

Kindest Regards
Fiona Cain

Great idea! Thanks for doing this!

About Me:
Name: Dannah
Birth: 1975
Current Location: Dallas, TX, USA
Symptoms:
Bilateral Branchial Cleft Cysts (removed)
Bilateral Preauricular Cysts (Ear pits) (Removed)
Minor Asymmetry: Lips, nostrils, thumbs
Small Jaw
Bilateral progressive "profound to severe" low frequency mixed hearing loss, hearing aids.
I also have: pectus excavatum, which is not part of BOR but my father who has BOR also has it so I thought it was worth mentioning.
Genetic Testing: Negative EYA1

Family Member: Father
Name: Richard
Birth: Aproximately 1948
Location: New Mexico, USA
Symptoms:
Bilateral Preauricular Cysts (Ear pits) (One removed)
Bilateral progressive severe low -frequency sensorineural hearing loss, hearing aids.
He also has: pectus excavatum, which is not part of BOR but it was passed onto his daugher and therefore worth mentioning.
Genetic Testing: Negative EYA1

Family Member: Son
Name: Elliot
Birth: 2009
Location: Dallas, TX, USA
Symptoms:
Left Branchial Cleft Cyst
Bilateral Preauricular Cysts (Ear pits)
Bilateral sensorineural hearing loss (mondini-type cochlear malformations).
Genetic Testing: None

About Me:
Name: Jamie
Birth: 6/16/1984
Current Location: Missouri, USA
Symptoms:
Kidneys function at 80%
no other symptoms
Genetic Testing: Positive EYA1

About my daughter:
Name: Molly
Birth: 6/21/2007
Current Location: MIssouri, USA
Symptoms:
Ear pit on left side
fistula on right side
minor hearing loss in right ear
no kidney abnormalities seen
Genetic Testing: Postive EYA1

About Me:
Name: Jamie
Birth: 6/16/1984
Current Location: Missouri, USA
Symptoms:
Kidneys function at 80%
no other symptoms
Genetic Testing: Positive EYA1

About my daughter:
Name: Molly
Birth: 6/21/2007
Current Location: MIssouri, USA
Symptoms:
Ear pit on left side
fistula on right side
minor hearing loss in right ear
no kidney abnormalities seen
Genetic Testing: Postive EYA1

About Me:
Name: Jamie
Birth: 6/16/1984
Current Location: Missouri, USA
Symptoms:
Kidneys function at 80%
no other symptoms
Genetic Testing: Positive EYA1

About my daughter:
Name: Molly
Birth: 6/21/2007
Current Location: MIssouri, USA
Symptoms:
Ear pit on left side
fistula on right side
minor hearing loss in right ear
no kidney abnormalities seen
Genetic Testing: Postive EYA1

Harrison Cain
Sydney Aust.
Born Sept 2003.
Symptoms: Earpits, ear cupping of one ear, neck fistulas, tongue tie, mild heart murmer, born with a mild hearing loss - not progressive at this stage, 2 very small kidneys which only work 15% of what they should. Was worst feeder as a baby ever. Projectile vomiter and reflux as baby.

No other family members have been diagnosed with BOR. My husband and I had blood tests along with Harri but there was nothing picked up. I do have two very small ear pits inside my ears as does my Mother and my 2nd born Son??? My Son and I have NO other symptoms. My mother had 1 kidney removed at 21 years of age due to complications and lives now with 1 kidney. Relevant - I am unsure....... She has mild hearing loss but it is said to be age although she is only 50.

I hope this will encourage others to fill their details in too.

Finley Downing
Peoria, Illinois US
Born July 2007
Symptoms: One earpit, very slightly low slung ears, bilateral cleft cysts and fistulas, blocked tear duct in one eye, 2 kidneys: 1 in the normal place/normal size, 1 smaller located in his pelvis. Mild to moderate hearing loss - still undergoing testing to obtain an accurate diagnosis. Our Geneticist also pointed out that he has a slight pigeon chest and sloping shoulders - not sure if these are related?

No other family members have been diagnosed with BOR however, my eldest daughter does have a couple of symptoms: She had a skin tag on one ear when born that dropped off on it's own and also has an extra 'bump' on her ear - not a pit but a little round bump that's about 1/2 cm in diameter on her tragus (the little ridge at the front of the ear). She also has a flat red birthmark on her leg.

No one else in the family shows any symptoms however, neither has anyone had cause for a renal sonogram which is something we are contemplating doing for our daughters - just to be sure!

Jason Cherry
DOB 08-07-2006
Boston, MA, USA
No other family members with BOR. MD feels it is a de novo occurence.

Symptoms include:
1: Bilateral pre-auricular pits
2: right sided pre-auricular tag
3: Ears, low set with thickened helices
4: bilateral sternoclediomastoid pits
5: Micrognathia (small jaw)
6: Bilat blocked tear ducts
7; Bilat mild to moderate hearing loss.
8: Positive test for EYA 1
9: left tragus mildly enlarged but not quite a pit.
10: asymmetric crying face
11: normal renal ultrasound, normal kidney function

Evan Meier
Born 12-19-2007
Houston, Texas. USA
No other known family members with BOR. Some previous family members have some hearing loss, but that is about all. Not much to go on in the family history.
Symptoms: ear pits, neck fistulas, one lop ear, no current hearing loss but has had questionable hearing test results which we are monitoring at this time, his tear ducts were blocked but that went went away on its own at around one year old, no kidney problems have been identified, genetic test confirmed BOR.

I am hoping to get some more info added to this Project. I have about 100 families registered on this site now.

Please lets all learn from one another and add your info.

Regards
Fiona Cain

Hi there,

I am still looking at getting many more families to add their details on this Project. I have 70+ families Registered on our site. Please help out and add your details. This is important information. There has not been a recent tabling of BOR Symptoms in some time. We can all learn from the variety of symptoms BOR produces.

Please add your details.

Fiona Cain

ME born 1973, live is Sydney, born with Left Brancial Fistula (repaired at 6 months), bilateral mixed moderate progressive hearing loss, left ear worse. No Kidney issues. Suffer hayfever and had many ear infections as a child. Bilateral earpits that look like scars and never been infected. negative EYA1 gene test.

Father born 1942 live is Sydney, Bilatreal ear pits, bilateral severe progressive hearing loss, No Kidney issues. Suffers Hayfever.

Son born 2002 live is Sydney, bilateral mixed Mild/mod hearing loss, no other issues.

Son born 2008 live is Sydney, bilateral mixed Mild/mod hearing loss, Right branchial fistula, Right ear pit, an attached helix on Right ear, incomplete Right unilateral cleft lip & palate & tracheomalacia (soft windpipe), had reflux, suffers from constant congestion. Poor little vegemite. A couple of operations so far but has a amazing spirit. No Kidney issues, ultrasound fine so far.