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    my daughter who is nearly 4 has all the symptoms of incontinentia pigmenti. she has had a skin biopsy which hs shown all chromosomes to be normal. the problem only affects the right side of her body in patches which we have been told, is that she is likely to be a mosaic of herself. we are now waiting for her gene mutation to be extracted and tested, but after watching embarrasing bodies, wondered how similar atrophoderma may appear as it does look like her condition and if it could infact be this condition





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    i'm 36 years old in november 2009 i was dignosed with stage 3 invasive ductal breast cancer, i was genetically tested and i carry the BRCA 1 gene. At the moment i'm likely in remission from cancer but i find it hard to know what is now right for the way my breast feels as since my lumpecomy last year my breast looks different and the area around my nipple sticks out all the time. Also i'm not sure what my prognoses is since i'm at a high risk of breast cancer because of the BRCA1 gene. I wanted to have a double masectomy but was advised to wait at least three years could you please help me understand as to why i have to wait this long as im so scared that my cancer may recur or that i might develop a new cancer thank Emma





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    Are there any gene therapies developed for (non-obstructive) Hypertrophic Cardiomyopathy?





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    My mum recently died of bowel and liver cancer...as did my grandad...and to be honest all over my family have some form of cancer...is there a test to see if i carry the cancer gene that i can do?





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    Hey, I'm 17 and am worried about these 2 ball looking things located between my vigina and anus. I have had them ever since I could remember. They don't hurt, they are squishy, and they are like a dark brown color. I'm really worried because I've done research and saw pictures and none of them show anything like them. Could it be a gene thing? I could have boy body parts? Infection? Cancer? Please help me.





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    Hi, you need to go to the doctors! They will be able to take a look and reassure you or take further action if it's something to worry about. If you're embarrassed, don't be. They are complete professionals - they may not even need to look down there. They might be able to tell you what's going on by just listening to your symptoms. Good Luck and Please go to the doctors! It's better than worrying yourself silly!

    Hiya I'm 27 and have a rare gene disorder that I can't spell it. I have a testosterone deficiency, I was on male hormone injections to boost it. Didn't start puberty till very late teens. I still don't think my penis is fully grown yet. Will I be able to go back on the injections or have something else to help me? I also don't shave and ain't got that much hair on my body. Plus I'm also loosing my hair all this is causing quite a lot of emotional disstress





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    Have you had test to check your pituitary gland is functioning properly, is it affected by your condition. Are you still getting testosterone replacement therapy, if not you should be for life. 1000 micro grammes every three months of testosterone undecanoate. Have you any other hormonal deficiency. You need to be under a decent endocrinologist who will proper test you for other underlying hormone or adrenal deficiencies. Lack of facial hair is a sign of hormone inbalance, as is late puberty. It could be you have a benign tumor or damage through disease affecting your pituitary gland. Lch maybe, langerhans cell histiocytosis, you will need a mri scan using high contrast to hi light the condition.basicly they inject you with a chemical indicator which will show any abnormalities to the pituitary gland. Do you feel week, washed out, drink a lot of water, need to pass water frequently. This coul be a sign that you may have damage to your pituitary gland. It is called diabetes insipidus. This can be controlled by taking desmopresin tablets for life. Also be aware that you could probably be suffering a cortisol deficiency as the part of the pituitary gland damaged causing the above problems also controls the vital hormone which controls the regulation of cortisol. Cortisol is the bodys stress hormone so a low level coud be quite dangerous has a person suffering it would experience a lowering of blood pressure and even go into shock, a medical emergency. I hope I have helped you, please see your gp and get things moving on further testing to be sure you get a diagnosis on your condition. Dont be alarmed at all of this above, nothing that can not be controlled by hormone replacement therapy. You could lead a normal happy life. Good luck to you.

    My daughter carries the faulty gene r117h she's has recurring chest infections at present she has a growth of Kebsiella oxytoca she has had so many bacterias growths in the last 3yrs. She has had sweat tests 1 slightly high reading 63 border line and 1 inclusive. She had 29 antibiotics in the 3yrs and 1 she has been on 4 a year and a half everyday.the doctors can not tell me why she has all these growths.they tell me she's fascinating.I have got all her reports and names of all the bacteria she has growing.can anyone help and made tell me why my 9 yr daughter has these nasty bugs.





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    Hi, My partner recently visted hopital for Gentic test for cancer gene sinve seeing it on you show the other day. She is 29 her monther developed breast cancer at the age of 32 and died aged 38. They have refused to do the test on the NHS and has now had to pay £500 for the test. They say she is not high risk, what exactly is high risk then? Also if they are saying that the test will be inconclusive due to not having a living relative why are the happy to take the £500 for private test. Is there anything we can do, to get the NHS to pay for this I think it is disgusting they are refusing treatment to what I believe is someone who is high risk. Thanks Mark





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    They may mean your positive for the gene mutation that causes cf. both parents have to have the faulty gene to pass it on to the child, even then I think it's a 1 in 4 chance. Having one copy of the faulty gene won't affect you.

    Hi everyone I am from a tropical country, currently living in New York. I have ichtheosis vulgaris. My skin little rougher than this video, specially in the winter. I don't have to mention in this thread, how this disease can impede mental and emotional development. I have done quite bit of research on this. Good news is in 2006 a molecular biologist from University of Dundee discovered the mutation which responsible for this disease. The mutation is in FLG gene. This gene was the last one to discover in human genome tree. As most of you know there is no cure for this yet, but promising research work in progress in University of Dundee. Dr. Irwin Mclean and his team is working on ways to increase functionality of FLG. Usually it takes about 10 years from the discovery of disease to coming up with treatment. http://www.ichthyosis.org.uk/ichthyosis-vulgaris-research-update-april-2012/





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    Hi Tropical, I am also from New York NYC CT and surrounding areas- The cold weather definitely does not help your situation- I was born a collodian baby with what I believe to be llamellar ichthyosis- completely covered with impaired hearing 2 other sisters with it- Born at Cornell medical cte in 1961 the prognosis was not good. I will tell you what I have found successful- Aquafor- the Eucerin heavy cream kind, Sally Beauty supply Unicare for all of the body( very inexpensive- you can buy it online for scalp treatment and overall body I would strongly encourage you to look at the hardness of your water- find out whats in it? call utility- if you have a well find out the hardness level- hard water is really hurtful to this skin type- One must replace with Salt water system. In addition: take time in the Winter months for 2 weeks try to get away to someplace warm with oceans of salt water- You will be amazed at the level of relief- Of course if you can find water from the Dead Sea well that would be the best healing water- I wish you much success in your daily journey in life- If you believe in the spiritual - There are gifts we are given often waiting to be tapped into- especially in a visual world where hurtful comments are part of everyday life.

    Hi I have alot of family history of breast cancer and cervical cancer, my dad has had a mastectomy, his sister has had a double mastectomy and so has her daughter, both my aunty and my cousin have also had cervical cancer. My aunty as been tested and the family have an inherited gene that one in 3 of the family get. I am a child of 3 and been to the doctors to be checked if i am carrying this gene but you have to be referred to a specialist and my GP wont refer me has he says you can npt inherit this gene from your father only our mother. Im quite concerned about this or is my GP right?





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    Id get a second opinion , even if you not carry the gene it'll be peace of mind for u

    I'm 13 and my penis has recently satarting to grow alot more. I am no longer able to pull my skin down and when I pee it is painful and very inaccurate it sprays all over the place. I think my hi-gene of my penis is starting to be very bad. there is a white liquad I am not sure if it is sperm or because of my bad hi-gene it is corsing it please help it hurts and irratates alot!





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    tell ur doc. it iss not sperm u have an infection

    I am 35. I never wanted children until recently for fear of passing this gene on to them. I know what kind of bullying, torment, and depression I went through growing up with this. I have been trying to research if you can do some genetic testing to find out if you carry the gene but I'm not getting too far. Some say it's not genetic. I don't buy it as I have a female cousin on my mom's side who has it as well. I know it has to do with blood flow at wk 7 in pregnancy.. But can't find out what causes that. Has anyone else researched this?





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    I have the same problem I'm in high school and just turned 14 and I'm so scared that someones going to make fun of me. Idk if surgery is an option for me but I hope you follow through with your choice. Remember what ever you chose it's your life, your not alone I have it to. Stay strong and don't believe them haters. Your beautiful no matter what that's what my family has always told me about people who are different.

    Noelle I know exactly how you feel. I am 65 and was born without a right breast and muscle missing and only found out it was called PS when I was 55! I have been married for 45 years but never had children in case they were born with PS. I have regretted never having tried to have a child. Go ahead and get pregnant and if that child is born with PS you will be best placed to make them feel special. Apart from the blood flow issue some people say it could be caused by a migraine drug. My Mum (died 16 years ago) suffered from migraine but I am having a problem getting hold of her medical records. I will keep trying.

    I am albino and I am 14 years old and i have more of a yellow white hair color and y lips have a very dark pigment and my eyes are blue and mine a lot but both of my parents are white and we don't know where the gene came from and I don't get it but everyone loves my hair and always says it's beautiful and I know tht it is but I don't know where the gene came from both of my parents are honkey white and idk





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    Hey I'm nearly 16 and at a early age I didn't understand about being fat etc and as I grew up I realised the genes my dad has carried onto me from his side is some kind of obesity gene and all 10 of my dads sisters and brother are obese. A couple died of heart attach or callapsed organs. I tried to find out who had the gene and why but there is a question mark. I started to like food around 4 years ago and I am weighing a 9 and a half stone and getting bigger. I don't fit into my clothes no more and it's a big chance it could happen to me as it's happened to 17 of my cousins and the genes are being carried on. Please help I don't want to be a any bigger if I can help it and want someone to answer my questions.





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    Hi. Just found your comment whilst trying to find a video on breast reconstruction. I have BRCA2 and was tested at the age of 29 as my grandmother had breast cancer which led to my mother and aunties being tested (a very long time later). The test was free and involved a simple blood test which was dealt with by a genetic counsellor. talk to your GP as they will know how to go about it. I would also like to add that the gene is inherited from a parent who has it which makes it a 50/50 chance for you- then if you have the gene, your children become 50/50 for inheriting (male or female. do some googling - brca2 and brca1 info is easily found. good luck

    I'm not a doctor however My doctor told me this is not a genetic thing. It's just a mutation that happens sometimes.

    I am a teenager,and i went to a doctor to ask if it was normal to have connected breasts and was told "everyone is defferent" which is true, yet i'm now realizing that this is a real condition and a congenital mutation and would like to someday correct it ,but it sounds as if the surgery is dangerous? Any more information would really be useful! Thanks!





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    Id get a second opinion , even if you not carry the gene it'll be peace of mind for u

    Have you been referred to a geneticist? Our 18 year old son has severe dyspraxia, had seizures early on, learning difficulties and hand tremors and twitches. He has recently been diagnosed with a genetic mutation called FoxG1 syndrome. There are lots of different genetic syndromes. It has helped to finally have a proper diagnosis.

    I spelled my email wrong in my first comment please reply to this if you have found anything out of passing the gene on. Thanks!





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    Hi, I have a 3yr old boy with PS, he was diagnosed by a leading geneticist at Guys Hospital in London (UK) last year having been born with a small left arm, left hand and missing his left thumb. I recently met with her (Nov 14). They are soon to start a study around genetic connections with PS. She said this was because there had been some cases of PS in siblings. (I have an older daughter who for not have PS) It may be worth following this trial or contacting them direct, but it is in early stages of research and may not give you an answer for several years, if at all. My main concern with my son, who is gorgeous, alert, clever, capable and oh so stubborn, is that he has a happy childhood, finds good friends to help him through the harder parts of this and aims as high as he can. I am a suffer of depression and am desperate for him not to find himself in the situation you describe. Any advise on how best to support him would be most welcome :)

    2-3cm ? I find that hard to believe unless you are extremely over weight. Anything under 3 inches or 7cm erect is considered a "micro penis" which is a real medical condition. This condition is caused by a mutation of enzyme 5. If you have had a physical exam by a good doctor with in the past twenty years, he should have diagnosed this and there are non-surgical methods out there to help this condition.

    I have two holes in my penis, it seems as though it is one hole joined by a mutation that has occurred possibly due to A catheter as I have had a lot of operations and hospitalised regularly. Thankfully I am healthy now and am no longer in and out of hospital but as a 22 year old, this issue, (I believe it's called hypospadias) is effecting my self esteem and confidence sexually. What can I do about it? I have written to my GP and spoke to them but was told as long as there was no UTI it wouldn't be classed as a medical issue, is this true?





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    Hypospadia means that when you were born the hole where your urine came out was somewhere on the underside of your penis. It can be anywhere on the underside, all the way from the base of your penis clear out to ALMOST the tip. Since you have had surgeries and say that you are now healthy, it sounds like this has been repaired, but you say it's affecting your self-esteem, so I'm not sure if it's been corrected in your case or not. If you still have an uncorrected hypospadia then your GP is in error. You should be seeing a urologist for this rather than a GP. If you have been surgically corrected, however, then I'm not sure what the issue is. Could you be more clear?

    Research in China has been underway for several years attempting to investigate the molecular cause, so far they have targeted a specific gene, MVK. The most recent article was published in Jan 2014.

    Are the genetic tests for the fat gene available to the general public? I'm setting up an Obesity Prevention and Weight Management Service and could see this kind of information being invaluable.





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    My mother and nan have both had breast cancer and my great nan died of it at 40yrs old. Becsuse of this I have to go for yearly mammograms which is brilluant, but I was wondering why I haven't been offered a test for the faulty gene?





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    Dermaly therapy lotion is good for vulgaris. It contains an alpha hydroxy acid to help exfoliate dry skin and urea to moisturise. I suggest using an exfoliating cloth/glove in the shower and then using the lotion. Be careful if using on face. Dermal therapy is available from advanced care products in the uk. Google filaggrin mutation, this is the cause of ichthyosis vulgaris. Good luck.





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    hi I used to be teased as well at school. I am much older now, over 40. But what works for me is: bathing with baby bath( so no harsh soaps) not drying my skin and using vegetable glycerine (food grade on my wet skin. I don't have scales anymore, my skin is smooth and not dry at all. I have just started to use it on my face as my nose has scales, no scales even in minus 25 degrees weather

    You can try things to correct them, but in the end, nothing will make them look like models in magazines. I just look at it this way: 'I won't have them for long, I'l be trading what I have for falsies as I have BRCA1 gene. Do what makes YOU feel confident and good about yourself. Men love a woman comfortable in her own skin.

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  • Episode 7 - Series 7

    In Magaluf Dr Christian and Dr Dawn tackle our holidaying boys tackle - checking out their penis performances with erection monitoring and looking at our lads little swimmers. Read more →

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