Hereditary Diseases - Family History & Genealogy Message Board

Symphalangism facebook page

softball601 — 2013-05-03 12:48:39Z

Here is a page for those with symphalangism or related to someone with symphalangism.
https://www.facebook.com/groups/275289499274613/
If you are unable to join then leave a post here with your facebook address and I will add you.

Re: Ectodermal Dysplasia

lalumiere50 — 2013-03-28 01:47:01Z

I meant the GJB6 gene

Re: Ectodermal Dysplasia

lalumiere50 — 2013-03-28 01:46:12Z

Hello,
My last name is Lalumiere and my family originates from Quebec, Canada. I have the genetic mutation for Clouston's syndrome, also called Hidrotic Ectodermal Dysplasia or HED2. I am not HED1 because I have normal sweat functions. I have the genetic mutation on the GJB5 gene and it is hereditary in my family (Lalumiere).
Have you been to the website nfed.org? It is a database with people who are diagnosed with any of the ectodermal dysplasias to register and to find information on the different types.
I don't believe your family and mine are related. From the reading I have done, my type of disorder is common to families of southwestern Quebec province in Canada, which indicates there may be a genetic relationship to these families. But, this disorder has also been found in families in other countries (China, India, example). It is a very rare form of ED. Lucky me I guess, not!
Let me know if I can help you with any information. I am looking for my family too.

Clouston syndrome in families from Quebec Province, Canada

lalumiere50 — 2013-03-28 01:37:55Z

Hello, I was always diagnosed with Pachyonychia Congenita but after genetic testing, I have been correctly rediagnosed with Clouston's syndrome. It is in my family on the Lalumiere side, originating from my grandfather George Lalumiere. His family is form Quebec, CA. I cannot find anything about my grandfather, or the Lalumiere family that I am related to. I do know that this is a hereditary disease with a mutation on the GJB6 gene.
I am hoping to find others with this disease to see how/if we are related. This disease is also called Hidrotic Ectodermal Dysplasia or HED2.

Re: Tremors

scwbcm — 2013-03-15 20:55:31Z

I do -not- see any connection at this time. I am not acquainted with anyone named Shields, nor do I see this in my lines. The family surname that I am certain of for this is a Day family from Gloucester, MA. Harriet or Hattie Austin Day, her daughter Helen Day Anstess Farnsworth, Hattie's grandson and granddaughter, great granddaughter and gggranddaughter. I do not know about Hattie's father John Warner Day or her mother Alice Abbie Chamberlain Pinckney (Abbie Alice Chamberlain Pinckney) both of whom resided in Gloucester, MA. I have many postcards for the Day family for both John Warner Day and his wife as well as others who were related or lived in the area. I will look for hints in these as I scan them. As I mentioned earlier, my relatives lived active, productive lives into their seventies and eighties and were able to do well with fine motor skills until the last couple of years. One family members lived with the tremors for over 60 years from the time they were first noticed.

AD PKD

neiner42 — 2013-03-15 18:15:43Z

Hi,
I am working on my boyfriend's genetic family tree. He and his sister have Autismal Dominant Polycystic Kidney Disease. His mother and her father died of it. The surnames involved are Willis, Fry, Fray, and Campbell. All were from TX, GA, and KY

Re: Bi-Polar Spectrum

neiner42 — 2013-03-15 17:56:02Z

My mother was Bipolar 1, and her father was too(we think) The last name of the carrier was Prager (my great-grandmother). One of her brothers was in a hospital for the Criminally insane, so that is what we are guessing. They are of Jewish decent.

Re: Tremors

neiner42 — 2013-03-15 17:49:03Z

My dad and I both have Familial Essential Tremors and have been DNA tested with showing some of the markers for it thru 123andme.com. My family Tree is Public, so you can look at the info and see if we have any family in common. If I remember correctly, my grandmother had it, Agenes Gertrude Ward nee' Sheilds.

Genetic Link to Chiari malformation family names Larrisey & Hill

BARCLAYMOUNTAIN — 2013-02-19 15:22:36Z

Hello,
My name is Jane. My family has been effected by a condition know as Chiari Malformation. Basically it is where part of cerebellum protrudes down into your spinal canal. It causes many different symptoms. When I was first diagnosed in 1994 I believed I was the only one with this disease in my family. Since then 8 family members have been diagnosed. Presently we are in a study with Duke University for the genetic link. Since my cousin on my maternal side has two of the diagnosis we are convinced that the connection is maternal. We are just not sure what line it came from my Grandmother Hill mainly from Atlantic County, NJ or Grandfather Larrisey from Phila,Pa. Anyone from either of those family lines with info please contact me. Thanks!

Re: INDIANA SHEPARDS AND HUNTINGTON'S DISEASE

allaninitaly — 2013-02-15 09:14:52Z

It seems that Elizabeth Jonker was my 2nd great grand aunt (her parents were my g-g-g-grandparents).

I believe Elizabeth's mother was named Cornelia Frederika Stein, born 24 Dec 1822 in Kampen, Overijssel province, Netherlands, and her father was Hilbert Hendriks Jonker, born Dec 1815 in Meppel, Drenthe province, Netherlands.

I believe that Cornelia's mother was Sijmetje Thomasdr van Rijn, born 5 Mar 1792 in Noordwijck, Zuid-Holland province, Netherlands, and her father was Heinrich August Stein, born 28 Oct 1755 in Stuttgart, Württemberg. They married in Kampen, Overijssel, Netherlands, on 21 Jul 1815 (when he was 59 and she was 23 - presumably an interesting story there of some sort).

I have only the names of Elizabeth's paternal grandparents: Hendrik Jonker and Aafjen Hilberts Maas. On the marriage entry for Cornelia and Hilbert, the only information given about them is that Hendrik was a "Schipper" (captain of some sort of boat or ship) and Aafjen was without occupation. Given their names, it's probably fairly safe to assume they were both Dutch.

Porphyria

cynthiam176 — 2013-02-13 01:03:59Z

I am a porphyria carrier. My late father, both of my late grandfathers, and several members of my extended family have or had the disease. Are you descended from the Michael, Kaufman, Kessler, or Rish family line and also have the disease. I would be interested in hearing from you.

Prostate Cancer in our Irish line - O'LAUGHLIN

WMayallday — 2013-02-12 01:00:49Z

My family surname is O'LAUGHLIN. My grandfather had prostate cancer and died from it. That is where the definite data begins.

My O'Laughlin grandfather's only 2 sons (my father and his brother) both had it and died from it in the same year.
Now both of my only 2 brothers have been diagnosed with it several years ago - late 50s to early 60s in age.

Obviously it is genetically inherited in my family. None of the families with whom our male O'Ls married into had prostate cancer. ANY OTHER O'LAUGHLINS, O'LOUGHLINS, O'LOGHLINS out there who have it to this extent? O'Ls from County Clare, Ireland

Re: Tremors

MarleneDainesRussell — 2013-01-30 20:03:05Z

Hi again Forgot to mention that I got an ipad to read books with. You can enlarge the print and it is certainly a great joy to be reading for pleasure again. marlene

Re: Tremors

MarleneDainesRussell — 2013-01-30 20:01:07Z

Hi all families with P.D., it's been awhile. I still have naot found any further news of family members with Parkinsons. However I am now 67yrs. and have developed new side effects. I am losing my vision and have a REM sleep disorder both associated with Parkinsons.If you go to MNTmedicalnewstoday.com you can see the latest on both conditions. My handwriting is much worse and sometimes so is my typing but if I persevere after a few minuts - half hour it settles down for me. This site also refers to hospitals doing new research ie your suggestion. It took quite some time to find this out as my eye specialist deals mostly with cataracts and sleep clinics also tend to deal in certain areas ie. sleep apnea. I act out my dreams when I go into REM sleep while regular people can not do this, so if I'm dreaming of fighting a bear, I actually do that which tends to get me injured extensively from banging into furniture etc., and I once needed 13 stitches in one eye due to sleep walking off the top of our stairs and landing against the wainscotting on the landing. I now sleep on a mattress on the floor to avoid injury. It is quite amazing how many side effects there really are with P.D.Would love to here from others with these problems. Also the loss of sight seems there is help for that with some sort of red lamp treatment which I hope to find out more about soon. regards Marlene Russell

BRCA1, MUTATED GENE, HIGH RISK FOR CANCER

MayesRotarius — 2012-12-13 21:31:34Z

Last year my 35 yr. old daughter was diagnosed with breast cancer, which turned out to be 917delTT BRCA1. BRCA 1 is a mutation of our gene. Nobody had breast & or ovary cancer in our family that we knew of. In searching my family line My father Lawrence Joseph Rotarius's grandmother had breast cancer & died from it. Both of my parents had passed. We did not know what side it was coming from. Recently, my cousin from my father's side Lawrence Joseph Rotarius was also diagnosed with BRCA1. So far I was diagnosed with it & my other 33 yr. old daughter, & my niece; Pam Fagan's daughter & my cousin who was my dad sister's daughter. Having BRCA1 does not mean you have cancer, but it gives you a 97% chance of getting breast or ovary for females & prostate or breast cancer in males. When you have a mutation as this, only half of your body defenses is working to keep you from getting cancer. My 35 yr.old daughter had a very unusual lump & was told it was from caffine by a P.A. ... 7 mos. later she was diagnosed with early stages of breast cancer & tested possitive for BRCA1. Then my other 33yr. old daughter tested possitive. My niece had a lump & had mammogram's & was told they thought she was O.K.. She decided to have a mastectomy & hysterectomy... doctors found precancerous tissue throughout her breasts. Our family has decided to take every precautionary surgerys that we can. In doing so...it drops the chances for cancer from 97% to 4%. If you are in our family line I HIGHLY RECCOMEND for you to see a genetic counselor! You will have to pay around $200.00.. for a saliva or blood test for proper diagnoses. Some doctors might say it is not necessary to be tested..DO NOT listen to them. Genetic counselors are the biggest help in this situation. When you have this mutation, it is a fifty fifty chance you have passed it on to your children. Please be tested & let each individual make their choice about this. It is a very emotional decision.SOme people out of fear choose not to be tested..just remember it's not fair to not warn them & let them make their own decision. It saved my daughter & nieces lives.

Re: Huntington's Disease in Washburn Ancestor?

rhodel1 — 2012-11-25 19:40:35Z

huntington's disease does run in the washburn line. my mother is a washburn and her grandfather was frank cleveland washburn. his father and four of his siblings had and died from huntington's. his father was louis (lewis) washburn and he died in a yankton south dakota state hospital. this family was in sanborn county south dakota. another woman that i met has done some resaerch and she has uncovered that the huntingtons is beleived to have been introduced into the washburn line by polly anna weirs 1779-1840 who married miles washburn 1771-1836. they both died in the west exeter new york area. by the way if anyone reads this and has any info on my frank cleveland washburn from south dakota please contact me. he was a mistery to my mother and we know he died about 1960 in a veterans hospital in soiux falls south dakota. he was 60 years old and we are very cureouse if he ever contacted the huntingtons like his father and siblings did. his son and my mothers father robert washburn commited suicide when he was 60 and we have no idea if he ever carried the disease either. so my mother and i are very interested in anything about these two washburns and their health or any info on them. thanks

Re: Ectodermal Dysplasia

helendhowarth — 2012-11-25 04:39:30Z

Hello,

I am intersted too but nome of the names come up in out tree. The faily may be more Sussex. The family history is 'a man called east'

Thanks,

Helen

Re: Spinocerebellar Ataxia

sweeneymike — 2012-11-21 00:46:13Z

Three people in my family have been diagnosed with SCA1. We attend a support group of 20-30 people with different types of ataxia, including several who have unidentified SCAs. I would be glad to pass along any information you can provide about the study bring done in Michigan. I am sure those with the unidentified ataxias would be very interested. My e-mail is sweeneymike@mac.com. My name, obviously, is Mike Sweeney. I live in St. Paul, Minnesota. The name of the support group is the Twin Cities Ataxia Support Group. Its members include folks from around Minnesota, but most live in Minneapolis and St, Paul.

Izod haemophilia? or Hereditary hemorrahgic Telangiectasia?

jeannettegoldie — 2012-11-18 00:37:54Z

Recently I have been given an incomplete diagnosis,considered a possible /suspect HHT,also known as Osler/webber /rendu.It is somewhat uncommon,and goes often undiagnosed as the medical community does not know much about it,even specialist(unless specifically in the field of HHT)are unlikely to be aware of the variance in symptoms even within identified HHT patients.Any help would be appreciated.Sone of the more common characteristics are bleeding noses(which I do not have),anemia from blood loss (nose or other within the body),red spots on skin,in mouth,can be anywhere....It is considered a blood vessel disorder and malformations can appear at any time in most any organ of the body,it can be mild or severe.Thanks

Re: Hereditary skin/nail deformity in the Lalumiere family

bruceReiske99 — 2012-10-31 13:28:47Z

Hi,

I am from Brisbane and don't know your family. However, I have just returned from a patient support symposium in Edinburgh UK, also attended by the time top academics in the UK and USA. I have recently been confirmed as K16 mutation after egentic testing. If you need further information, please contact me. Have you registered with the PC Project?

Spinocerebellar Ataxia

just_KerriHanscom — 2012-10-30 01:18:03Z

University of Michigan is currently doing a research study on persons with unidentified SCA's. A family here in Maine with the surname of BROWN is currently involved and welcomes any and all family members or other persons trying to identify their hereditary disease to participate.

Re: Multiple Sclerosis/MS

just_KerriHanscom — 2012-10-30 01:12:33Z

family here struggling to identify SCA , all athena tests negative, fyi, University of Michigan currently conducting ataxia research for anyone still trying to get their SCA's identified.

French or French Canadian conntection to Huntington's Disease

JenRosenstein — 2012-10-25 17:36:52Z

My Paternal Grandmother's family line has Huntington's Disease. I've been working on tracing it to see where it may have started. I know this line of my family is French/French Canadian and Native American. The Native American side has been ruled out as the carriers (almost everyone lived to over 90!) So, now I'm on to the French Canadian side, Peterson or Petersen. I've traced it back to the mid 1800's New York, but it seems to be a fairly common last name in that area.

Anyone else searching Peterson, in New York with Huntington's Disease?

Re: What did he die of?

shortysrus69 — 2012-09-21 23:16:50Z

This is what i have found online.....

http://www.paul_smith.doctors.org.uk/ArchaicMedicalTerms.htm says that
Acute Indigestion "As a cause of death may mean a perforated ulcer [or] a
heart attack."

here's where i found this info at:
http://archiver.rootsweb.ancestry.com/th/read/MEDICAL-GENEAL...

cystic fibrosis - Robillard, Cote families

catdeavey — 2012-09-13 02:35:18Z

Are there any Robillard or Cote families that have the cystic fibrosis (CF) gene? The CF gene is from my mother's side so now we have to find out if it was from her mom (Cote) or her dad (Robillard).
Thanks
Cathy

Re: INDIANA SHEPARDS AND HUNTINGTON'S DISEASE

msparker505 — 2012-09-04 21:41:46Z

Elizabeth Jonker got the HD gene from her mother and grandmother. What was her mother's maiden name? What was her grandmother's maiden name? I take it both her mother and grandmother were born in Holland correct? Do you have DOB for either one?

Re: INDIANA SHEPARDS AND HUNTINGTON'S DISEASE

jillwestphalwest — 2012-08-27 04:23:37Z

Hi, Elizabeth Jonker (almost pure Dutch heritage, born in Germany) married Henry August Westphal (pure German heritage born in Holstein, Germany) in Iowa, USA, in 1878, much later. Elizabeth carried the gene for Huntingtons Disease from her Holland Dutch mother and from her Holland Dutch maternal grandmother, as well. Many genetic diseases appear to have an origin in the Netherlands, often traced back to the 1600s, particularly in Holland, according to recent DNA research. But, with Holland being such a busy area, even back in the day, there was a lot of travel from Holland and the Netherlands to other areas, and Holland was also a port city. And, Holland hired English soldiers to help them fight their war in the 1500s, many of them taking back Dutch wives to England while still having children with English surnames. Westphal/Westfall is almost always a German surname, commonly from the northern part of Germany, which is very close to the Netherlands and also Denmark. So, many Germans in that area, which is a coastal,low altitude area (not in the Alps) speak "low" (altitude) German, which is much more similar to the Dutch language, also, and many carry Dutch heritage because so many Dutch moved to the northern part of Germany, from Holstein to Bremen. Your earlier Westphals/Westfalls "could" have been part Dutch, but possibly another ancestor could have been, as well.

Re: INDIANA SHEPARDS AND HUNTINGTON'S DISEASE

msparker505 — 2012-08-27 01:44:22Z

What was the name of the Westphal (Westfall) your Elizabeth Jonker married? When was she born? When did they marry?

I have a Westfall connection. A Westfall married a Stalnaker abt. 1750 VA.

Stalnaker's daughter married my Whitman abt 1780 in VA.

My Whitman's have HD. This could be the connection I've been looking for.

Happy to share all information.

Thank you and good luck in your research.

Re: INDIANA SHEPARDS AND HUNTINGTON'S DISEASE

raymcadams — 2012-08-18 15:31:57Z

If any of these names fit I may be able to help. Augustus, Haight, Carman. One of Adam Carman's daughters by a first marriage apparently died of HD in her early 50's. She had married Stephen Haight, There son Jesse Haight also died in his early 50's. Jesse Haight married Theodosia Adams. Jesse moved to Prince Edward County, Ontario, Canada. He had a daughter Rouby Haight who married Gideon Augustus. She had 10 children. Half of them developed H.D. They lived in Lenawee county,MI until the early 1850's when Rouby died of her H.D. Some of the family then moved to near Centralia, Illinois.

Hope this offers some help. The 1912 issue of The Journal of Insanity may offer additional help. I entered this info in the 1990's . In 1948 someone broke the name code and gave actual names and places.
Ray

Re: INDIANA SHEPARDS AND HUNTINGTON'S DISEASE

cdjw2_1 — 2012-08-17 04:30:36Z

My first Husband had H D and gave to my daughter she died at the age of 50 Jaeschke got it from his mother who died from it and maybe gave it to another girl child. He had two more boys and one I no has it, His brother and one sister died from H D. His mother was a Parker and I think it came from her mother They lived in Monroe county New York.

Re: Talbot fingers

jesswoodskelley12 — 2012-07-29 18:48:33Z

Iain,
Our family is from the Virginia area of the United States. We were able to trace these fingers back to a man named William Brown. And he was scottish if I remember correctly. In our family the affected fingers are different in males and females. In females the last two fingers om our left hand have the fused joints and the last three on the right hand. My daughter has four fingers with fused joints on her right hand which is the strongest we have seen this trait in our family. Also it seems to alternate sexes but with me and my daughter that pattern seemed to go out of the window. Alot of the Collins family in eastern Tennessee have these fingers. My dad seemed to do fine with them as Have I. He was in the 101st Airborne Division of the US Army ( pretty big deal). What do you mean by they are "quite bad" in your fingers? And if it is easier you can email me directly. Simplysweetnothing@yahoo.com

I would love to hear how your hands are affected and which fingers are affected. Thank you for writing back. I want to find out more for my daughters sake. She has fingers that are different and though she is only 19 days old, I would still like for her to know when she gets older. :-) thanks again!

Jessica

Re: Talbot fingers

iainandrewclark — 2012-07-29 07:50:33Z

Hi Jessica,

Thanks for your message. This condition seems to pass on through male members of our family as my father, myself and my son all have it. I don't really have a great deal of historical information about it except that it is named after English nobility (the Talbots). My Grandmother is a Whelpdale (from the Lake District), and we recently found out that my grandfather was a Dobson (and not a Clark as my father always thought - my Gran remarried after my Dad's birth).
Although I have it quite badly in my fingers and on some of my toes, it has never been an impediment (apart from rope climbing when in school PE sessions, but how often do you want to climb a rope these days?).
Please let me know if I can be of any more help re family tree, although I can't gaurantee how accurate my tree is.

Regards,

Iain

Re: Tremors

scwbcm — 2012-07-29 04:38:22Z

I noticed some names that have been linked to Essential Tremors and thought I would mention them in case someone is researching these lines.

Katherine Houghton Hepburn, Samuel Adams, Eugene O'Neil, Sandra Day O'Conner, Joseph McCarthy and Ozzy Ozbourne.

I was struck by the Day name since that is the surname I am primarily monitoring for this but at a glance it doesn't look like Sandra Day O'Conner is related.

Update: it turns out that I have more than one line of Day so I may indeed be linked to this name. There is a connection to Houghton's but I am not directly connected to that surname.

Re: Talbot fingers

jesswoodskelley12 — 2012-07-29 03:46:14Z

You are not the only branch. I am desperately searching for more of us. There is a whole mess of us stemming from the VA area!! There are more of us and I just gave birth to a bay girl with them too!

Re: Talbot fingers

jesswoodskelley12 — 2012-07-29 03:43:28Z

Desperately looking for others with these fingers. My grandmother and her brother have them, my dad does, I Do, and I just gave birth to a baby girl and she has them too, but she has the gene or defect stronger than any of us have seen, I want to find more people that have these fingers and knows more about the history, I hope someone is out there, in our family it seems to go down the generations alternating sexes but we are blown away that me being a girl, gave birth to a daughter with them too!! I hope there is someone else out there, Please let me know. I have been searching for years!!

Jessica

Re: Ehlers-Danlos Syndrome in descendants of German settlers in Lunenburg, Nova Scotia Canada

Cherylcastellari — 2012-07-23 19:13:32Z

I have Ehlers-Danlos Type 3. I am also interested in finding a ancestor link. Should we give each other access to each others tree and see if we have a common ancestor?

Re: MS IN MULLINS/MULLIS FAMILIES

williamartmullies — 2012-06-13 18:02:19Z

Mullis family descending into Orange Co., N. C. in 1755 were descended from John Mullis who arrived in Va. by June 8, 1658, an ENGLISH IMMIGRANT FROM MICHAELSTOW PARISH, CORNWALL.

THIS MULLIS FAMILY HAD NO CONNECTION WHATSOEVER TO SWITZERLAND, where a separate Mullis surname evolved
from the name of village near Flums called Mollis.

Important to keep English Mullis lines separate from Swiss Mullis lines, especially when studying genomes.

Arthur Mullies

Re: Meniere's Disease and Syncope Disease

Chamby1972 — 2012-06-12 14:39:15Z

I've been suffering from Menieres since 2004. It is not fatal or terminal but can be chronic and disabling. The disesase is different for everyone and it is idiopathic meaning there is no known cause. There are some things that have helped in my case that may help you. Basically Menieres is an excess of fluid in the inner ear. Cutting back on sodium, less than 1000mg daily provides some relief. Increase your water intake to flush out excess sodium and water. Diuretics, also known as fluid pills are an OTC medication used to rid the body of excess water. Use with caution as diuretics can deplete potassium in the body. Potassium is very important in dealing with Menieres as potassium helps to regulate the balance of fluid in the body. Get your potassium from foods such as bananas, strawberries and Lima beans. Potassium supplements do not work as they provide minimal amounts that aren't easily absorbed by the body. Medications that have helped me are meclizine 25mg 4-6 times daily. Use caution as meclizine will make you drowsy and can cause headaches. Lorazepam and diazapam are prescription drugs. I have found that 2 1mg Lorazepam a day is helpful. It doesn't prevent the drop attacks but it does seem to make them shorter and less severe. Some research indicates that the supplement Lysine may be helpful. If you smoke, stop. Smoking aggravates this condition. So does second-hand smoke. If you suffer from allergies then treat them as they are an aggravating factor. Stress is a biggie. Try some breathing exercises, yoga etc. The lorazepam also helps with the stress. That's the best advice I can give you. I hope something works for you. Good luck

Re: Hereditary skin/nail deformity in the Lalumiere family

lalumiere50 — 2012-05-14 20:09:54Z

Thank you. I'll keep this link in mind as I do more research.

Re: Hereditary skin/nail deformity in the Lalumiere family

Champlain9 — 2012-05-14 19:11:16Z

Found this for you...

http://ghr.nlm.nih.gov/condition/pachyonychia-congenita

Champlain

Re: Huntington's Disease in VA or WV: Surnames PRICE, SIMS, HILL, MERRILL

jsscjsm — 2012-05-11 20:03:50Z

I am located in Stafford, Virginia

Re: Huntington's Disease in VA or WV: Surnames PRICE, SIMS, HILL, MERRILL

jsscjsm — 2012-05-11 19:25:36Z

I am a descendant of this family. My name is Jessica Sims. My father has 4 brothers and 2 sisters. 3 of them (2 sisters, 1 brother) have confirmed HD. 1 of these sisters have already passed as a result of the disease. The other 2 (1sister, 1 brother) are alive today. 2 additional brothers (niether had confirmed HD) committed suicide. 1 died at the age of 22 and 1 later in life. The brother (my uncle) that committed suicide later in life had signs of HD (correa) but was never tested before his death. My fathers last brother has been in jail since 88 for the murder of his wife. My father has never been tested. I dont know if the suicides/murders are a pshycological result of the HD. Also my grandmother died from the disease. I am very interested in the research of this disease. Please let me know if you get this!

Clouston's Syndrome families in Quebec

lalumiere50 — 2012-05-09 16:35:04Z

I am looking for information about the families originally from Quebec that have a hereditary disease called Clouston's Syndrome. It is also called HED2 or Hidrotic Ectodermal Displasia 2. It is one of the Ecotdermal Displasia diseases but there is normal sweat gland function. This disease shows as nail deformities, sparse or lacking hair, and thickening of the skin over the joints and palms/soles. It is autosomal dominant in that anyone with the gene deformation will show signs of the disease. It is hereditary.
Research shows that these families in Quebec are related to one another. I would appreciate any information on these families as I believe I may be related to them. I am in the process of getting tested for this disease.
Thank you.

Ectodermal Dysplasia

jamsking — 2012-04-25 06:40:20Z

Hi
Looking for any information on ancestors having Ectodermal Dysplasia.
Family names I am researching are Rumney,Tolson,Pritt,Hiddleston from the area of Cumbria/Cumberland England.
ED is a genetic condition that is passed down the family line, females are generally carriers of the gene, males usually show symptoms. It is not a well known condition and there are many people who have it but have not been officially diagnosed. The most common Symptoms are unable to sweat, no tear ducts, teeth anomalies, thin wiry hair.
Would like to trace back to see which family line this developed in

quinckes disease, or hereditary angioedema in family tree??

lisacblack — 2012-03-26 00:09:12Z

desperately need to locate other family members that have this disease, or mysterious deaths in family - often death in sleep from airway closure, incidents of swelling in extremities and stomach also.

Re: von hipple lindau or polycystic kidney disease

okodever — 2012-03-23 03:12:41Z

I would also like to have information about individuals who may have this disease that are related to me. I am from the McCoy's that came from Nebraska and Iowa and move to the Independence Oregon area.

Hereditary skin/nail deformity in the Lalumiere family

lalumiere50 — 2012-03-12 16:14:13Z

Is there anyone who knows of skin/nail deformities in the Lalumiere family? Has anyone heard of the diagnosis of Pachyonychia Congenita? Does anyone know of relatives of a George Lalumiere who married Alina Marie Dion?

Re: Ashkenazi Jews with DYT1 gene (dystonia)?

John_in_MN — 2012-03-10 18:04:58Z

DYT1 is an early onset form of Dystonia ( mine started at about 10yrs old with leg foot walking problems – than at about 20yrs old had some slight tremors in legs – and funny leg functions – now at 73yrs old Mid Body tremors giving me some trouble ) which I think like 70% of carriers never show any signs of it.

The incident rate in Ashkenazi Jewish population is quite high. You can search DYT1 Ashkenazi Jew , and see the interesting results.

I’m not Jewish ------ but who knows in our distant past what connections we have and we do have connections.
I am in contact with my Slovak relatives and when visiting there in 1991 asked if anyone had any tremors – because Doctors had thought what I had was hereditary !

Well it wasn’t until last year the special blood test were done at Mayo Clinic in Rochester and my diagnosis of DYT1 Dystonia was made . My father had a eye blinking problem in his 80’s that could have been from it but back than it wasn’t really diagnosed .

Our family ROOTs have a lot to do with what / who WE are. A lot of info on DYT! And Dystonia – I have found some support groups and thinking of having DBS surgery for it. God Bless !

Polycystic Kidney Disease - Mulder/Bijman Descendants

vohalloran — 2012-03-05 17:45:46Z

I have PKD which I can trace back through my maternal ancestors back to one of my great grandparents, Henry John Mulder or his wife, Charlotte Bijman. Since Charlotte died at a MUCH earlier age (about 63) than Henry John (he lived to about 100), I suspect it was Charlotte who carried the pkd gene. Charlotte's parents were Aalt Bijman (Byman) and Drisje (Catherine) aan't Goor. These people immigrated from the Netherlands in the 1860s to the area of Ridgewood-Midland Park, NJ. Charlotte had two sisters who had many children. They were Hendrikje (Annie) Van den Berg and Eibertje (Ebbie) Hoksbergen. Ebbie relocated within a few years of her arrival to the Pella, Iowa area. If any descendent of any of these women also have PKD, please let me know.

I'm just trying to trace the disease. The prevalence in my family seems to be greater than the 50% chance they say you have in studies. The plus is that we are not normally diagnosed until much later in life (possible PKD2) and fewer people have had to go through dialysis or a transplant.

Thank you.

A Family Torn Apart by Mental Illness -adoptions -unknown family members

laura_scarinzi — 2012-03-04 09:23:34Z

Anyone, Post or Email me with any information - help solve a family mystery.!

Back in the 50's and such, it was seen as taboo and a shame upon the family to have mental illness.. and our Grand Parents, "Nicola and Stella Scarinzi ", actually did have approx 10 children as someone else said they did - Then these are all UnKnown to everyone. [also seen the same names/married with the last name Searingi]

If Stella or Nicola Scarinzi [searingi] was also suffering from BiPolar/Schizophrenia - they also may have been taken away by the state or put up for adoption - except for the three late family members known about.. Theodore Scarinzi, Filomena Rose Scarinzi nick name Flora, and Mary Scarinzi Hennessey.

Mary Scarinzi married a Hennessey - Mary Hennessey - she also suffered from BiPolar/Schizophrenia.
They had a daughter, and the daughter had been placed up for adoption some time in the 50's. Her where abouts are also a mystery.

My bcert says I was born in Ypsilante, MI [no hospital mentioned]. Its seems I was born during one of her mental break downs when she was in the Ypsilante State Hospital for the mentally ill. [BiPolar/Schizophrenia]

My Sister in NY, had also been adopted, and our Brother placed in a hospital [BiPolar/Schizophrenia]
I am also BiPolar, so this fits in.. [DHS never told my adoptive parents about any of this important family medical history. They never added it to my medical hsitory for me either.!]

[Illinois]
I was told our Birth Mother was extremely beautiful and a very gifted singer...

And she was trying to make it in the music world.. She sang in the Clubs in Chicago..

And due to the history of mental illness, and so many children being placed up for adoption.. Not much is known about these empty years of our Birth Mothers life or our siblings. She had totally disappeared for years after she moved to "Chicago, Illinois." [I am part of those empty years.]

Mother, Then headed for Motown.. Detroit Michigan..

[MOTOWN - Detroit, Michigan]
My BMother Filomena, headed to Detroit, Michigan to audition or sing in the possibly the Detroit Opera House? etc..

Someplace, to make her way in the music industry.

Then she had an episode, and was living on the streets of Detroit when pregnant with me, and with my 2 siblings.

This is when I was born prematurely, My bcert says Ypsilante, MI.

We were taken away and placed in a foster home in Linden MI or Linden NY.
[2 unknown siblings were with me in Michigan, because this sister was placed in a foster home in New York when 4, and adopted at 8 yrs old] Mom used to visit her..

She was taken from the Ypsilante State Hospital for the mentally ill in Michigan, back to NY to be close to her family.

[New York]
BMother was moved from the Yipsilate State Hospital, back to New York Hospital so she was close to all her family in Binghamton, NY.
[[My adoptive parents said my BMother was in jail, but probably didn't want to scare me by saying she was in a mental hospital.]]

Number of children she actually did have, is unknown..

When she got back to New York, she asked her brother Theodore: Why did you leave me there.? [meaning in Michigan]
He had no idea what she meant..

All locations and information I was told by my Adoptive Parents Morris and Suzanne Grove - Has been validated.

3 Siblings accounted for - possibly 5 to go..
2 being the unknown sisters with me in the Sarah Fisher Home for Children, and then the Michigan Institue for Children..

I was told that our BMother did have Schizophrenia:
[Passed on by her Father, Mother or both.?]

Could Filomena have imagined having 8 children.?
who were they.???

Possibly confusing her brothers & sisters as her children.? and who were all these approx 10 unknown siblings of her, and where are they.???

We're some of her siblings, actually some of her children.?
if so, which ones.???

I have seen 2 married people, same firsts names, Nicola and Stella, same dates, using the last name Searingi..

Which could also account for more empty years, and more mysteries.. Possibly their children were put up for adoption under the last name Searingi.?