Discussions

Turner Syndrome interview

kitchneralex
  • By kitchneralex · Posted April 13, 2014
  • In Family and friends · 0 replies
  • Hi everyone. My name is Alex Kitchner and I am a teacher candidate in the state of Wisconsin. I am currently studying special education and for an assignment in one of my classes, I have been given the ...

Richmond VA NFers

Mariahsmom
  • By Mariahsmom · Posted March 24, 2014
  • In In the news · 0 replies
  • Looking for others in Richmond Virginia or surrounding areas with NF or children with NF. We just started a group to get together and be there to support each other in good and bad times. We will also ...

child awaiting mri

mishmash001
  • By mishmash001 · Posted January 11, 2014
  • In Living with a genetic or birth defect · 0 replies
  • Hi everyone. My son is 4 1/2 years old. He sees several different drs. Hes been diagnosed with epilepsey. Hes got a larger than normal head had an mri scan 1 year ago and had large ventricules ?hydrocephalus ...

Hypoparathyroidism and Hemochromatosis

Sparrow33
  • By Sparrow33 · Posted December 26, 2013
  • In Genetic conditions · 0 replies
  • I have recently completed several months of therapeutic phlebotomy (TP) for Hemochromatosis to get my ferritin levels down below 50. I could only tolerate giving the 500ml of blood very 10 to 14 days ...

Hydrocephalus

Hydroceph
  • By Hydroceph · Posted October 14, 2013
  • In Living with a genetic or birth defect · 5 replies
  • Does anyone else have congenital hydrocephalus, but was diagnosed later in life? I am 48yrs old, but was finally diagnosed at 40, when I had a VP shunt implanted. At that time, I had experienced a considerable ...

Hydrocephalus

Samanthamarie1994 (Inactive)
  • By Samanthamarie1994 (Inactive) · Posted October 10, 2013
  • In Living with a genetic or birth defect · 4 replies
  • Hi my name is Samantha I am 19 and I was born with Hydrocephalus. I have had over 250 brain surgery's. I started with a VP shunt but it wasn't absorbing so they tried a VA shunt and that caused me to ...

hey

Samanthamarie1994 (Inactive)
  • By Samanthamarie1994 (Inactive) · Posted August 11, 2013
  • In Family and friends · 0 replies
  • I am 18 and I was born with Hydrocephalus I have had over 250 shunt surgerys. In 2008 I went to a VA shunt but had to put the VP back in because I got a bloodclot with the VA . And I have had Pulmonary ...

Please sign my Ehlers Danlos Syndrome Petition

GumbyDav
  • By GumbyDav · Posted June 19, 2013
  • In Genetic conditions · 0 replies
  • Anyone living in the US, please sign my petition to make Ehlers Danlos Syndrome recognized as a disability! http://wh.gov/l3haJ or https://petitions.whitehouse.gov/petitio n/cousin-disorder-severe-painful-debilit ...

Encephalocele/Neural Tube Defect/Induced Labour/Loss

Britnee26

Grown out of PKU?

jsmith12g
  • By jsmith12g · Posted April 8, 2013
  • In Living with a genetic or birth defect · 0 replies
  • Hello, all. I was born with PKU (obviously) but as time went on, my levels went lower and lower (average around 5?). By the age of 7 I was no longer having my phe levels checked at all. -Now fast forward ...

Please sign my Ehlers Danlos Syndrome Petition

GumbyDav
  • By GumbyDav · Posted April 3, 2013
  • In Living with a genetic or birth defect · 0 replies
  • Anyone living in the US, please sign my petition to make Ehlers Danlos Syndrome recognized as a disability! https://petitions.whitehouse.gov/petitio n/proclaim-ehlers-danlos-syndrome-eds-di sability/yzvYyxGF ...

I implore you, assist me.

GumbyDav
  • By GumbyDav · Posted March 31, 2013
  • In Genetic conditions · 0 replies
  • Hello, how are you today? I'm David and Gumbydav on YouTube. I created YouTube videos to spread awareness about Ehlers Danlos Syndrome (EDS), and I have a severe case of the Hypermobility Type (EDS-HT ...

scared and looking for advice

kelkitson
  • By kelkitson · Posted January 29, 2013
  • In Birth defects · 0 replies
  • Hi my child was diagnosed in utero with hydrocephalus specifically aqueductal stenosis. I am looking for someone that can be supportive and informative on their experiences with hydrocephalus. My daughter ...

friedreichs Ataxia

FAMom40
  • By FAMom40 · Posted January 17, 2013
  • In Genetic conditions · 0 replies
  • I am new to this group and I am looking for support. My daughter is 20 and was diagnosed at 11 with FA. I would luv to speak with other ppl that have relatives they take care of that has this horrible ...

Chromosome Anomaly @ MTHFR Mutation

smeraz43
  • By smeraz43 · Posted November 21, 2012
  • In Genetic conditions · 2 replies
  • Hello Friends,just wondering if there are anyone else out there like us?? So I am a mother to 2 beautiful Childern son(13)daughter(15)and we were born with a Rare Genetic Condition,we have a chromosome ...

First ORG to start StopRareDiseaseBullying help join the VOICE 4 our childr

all4CAID
  • By all4CAID · Posted November 14, 2012
  • In In the news · 0 replies
  • After 19.5 month in and out of hospitals, surgeries, ..you name it my son was dx with a very rare and genetic disease. Knowing I had no prognosis, giving him over an adult dose of injections and knowing ...

my life with spina bifida

jazzyt
  • By jazzyt · Posted October 2, 2012
  • In Birth defects · 0 replies
  • Hi my name is jasmine and I was born with spina bifidai had major surgery to correct it the last one they put in rods my life is no different then any one else's that doesn't have it its jus things that ...

spina bifida

jazzyt
  • By jazzyt · Posted September 28, 2012
  • In Living with a genetic or birth defect · 0 replies
  • Spina bifida is wat I was born wit am 22 now I have to wear braces on my legs to help me walk I had to have mayor surgery to correct my back the last one I had done they place rods to hold my back in ...

A little encouragement??

Jaidensmommy09
  • By Jaidensmommy09 · Posted June 26, 2012
  • In Genetic conditions · 0 replies
  • Today is the day my son is being admitted for a total clean out, and tomorrow his doctor will do a scope to take a look at his colon. I'm scared to death! I know he will come out of this procedure ok ...

Someone has to understand..

Jaidensmommy09
  • By Jaidensmommy09 · Posted June 23, 2012
  • In Genetic conditions · 1 reply
  • I am new to this group. I have been looking to reach out and talk to other people or parents who understand what I go through. I have a 3 year old son who has FAP. He inherited it from his dad or sperm ...
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