Inherited and Rare Conditions

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  • Vicky67 1

    More information IGA Deficency

    I was recently told I have this condition by a Rheumatologist whilst seeking help with Fibromyalgia, but he offered nothing more than 'its only relevant if I think I might get tetnus' :?: :?: I would really like more information about this, I shall speak to my GP, however I believe my GP has had these...

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  • swissms 1

    female hypospadias/urogenital sinus

    My daughter was born with fatty filum tethered cord syndrome that only much later was discovered to be related to a rare genetic syndrome called Hand, Foot, Genital Syndrome. Associated with this syndrome is duplication of the Müllerian bodies. But only now that she is in her teens have we discovered...

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  • twilson1 1

    Best Brother - Downs Syndrome

    My brother is 4 years older than me and has Downs. Obviously bringing him up was a struggle, and we really never got along very well. I think I was too immature to understand him, but those of you with similar experiences know how cheeky people with Down's can be and I never realised that his attempts...

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  • Guest M

    Whipple's Disease

    my father in law was diagnosed with whipples disease in 1998, this was after experiencing weight loss and anemia. he was diagnosed as having intestinal whipples and was treated with antibiotics and seemed to recover over a period of months. he was then free of whipples until 1994 when he started showing...

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  • Guest M
  • Guest M

    Whipple's Disease

    would be interested in others ex's, mine started 2006 dyagnozed anemic was sent for tests nothing came of it put on iron tabs, late 2009 started feeling weary & tired. Mid January feet started to swell,Dr had me admitted to hospital cardiac failier.Sorted with meds sent home after tests. weight loss...

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  • Guest M

    Neurofibromatosis

    i have neurofibromatosis and it affects my confidence very bad i cant wear tops showing my back or arm as im afreaid of what people might think. i have had the one on my arm since i was little and had some removed but then it grew back bigger the one on my arm is like a raised birth mark but then when...

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  • Guest M

    Werdnig-Hoffman Disease My experience

    I have had 4 children. 2 of which had Werdnig-Hoffman Disease. My son was 8 months-old. He was in an Iron Lung for 3 months. My daughter was 5 months-old and I didn't put her in an Iron Lung because it just prolonged the inevitable. My 2 sons that are alive haven't ever had the symptoms. One of them...

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  • Guest M

    Coping with three children who have Neurofibromatosis

    My children are aged 14,11 and 9. Two boys and the youngest a girl,all with NF1. My eldest has physical abnormalities,learning and behavioural problems, he had a tumour removed from his spine at the age of six. My second son has learning difficuties and ??? autism. My daughter has milder learning difficulties...

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  • Gracie999 1
  • IAM 1

    Morquio's Syndrome

    I have a relative with this condition and she is now in a great deal of pain and cannot sleep. Her legs move and twitch by themselevs. Her upper body is moving uncontrolably and she does not know what to do about her pain or how to stop her body moving involuntary. She is also very embarressed now how...

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  • Guest M

    relative success with Noonan Syndrome

    I am a male with noonans syndrome. I have many of the physical factors, Scoliosis, cubitus valgus, pectus excavatum, webbed neck and others. Although I perfomred poorly in school initially, I began to perform well in college. I obtained a law degree and am now a litigator.

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  • sdh8286 1

    I suffered Toxic Epidermal Necrolysis

    I had this when I was a very young child in the late 60`s, early 70`s and was treated in the Royal Victoria Hospital in Belfast. Obviously I dont remember very much about it and I just about remember being in hospital. I will have to ask my parents more about it but I do know that because I was so young...

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  • caz64 1

    meningeoma/horners syndrome

    I was recently diagnosed with a small 12mm meningeoma, i am told that this tumour is very small and although it has grown since my last scan it may never require surgery just regular mri scans. I also suffer from severe headaches which i have been told is migraine headaches unrelated to the meningeoma....

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  • Guest M
  • Guest M

    inmunodeficiencia / immunodeficiency

    Hola, soy de Chile mi hija Isidora ha sido diagnósticada con inmunodeficiencia creen que puede ser la de Burton tiene las 3 IGG bajas pero por el momento solo se le trata la IGG, cualquier información o experiencia me seria de gran utilidad Hello, I'm from Chile Isidora my daughter has been diagnosis...

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  • Guest M

    Mullerian Agensis

    I was diagnosed with Mullerian Agensis after 2 years of study. I Have a normal vigina and perfectly formed overies and tubes, but have no cervix or uterus. All my hormone levels are as they should be - I am a perfectly healthy normal female according to my blood test results. I still produce eggs...

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  • Guest M
  • andrew67 1

    lipodystrophy

    i am currently on a cobo that includes AZT and i am convinced this is causing marked lipoatrophy , i will be seeing my consultant soon regarding possible changes, i was hoping to find out if a DEXA scan would be useful, does anyone know or have experience of DEXA. i can really see a change is my shape...

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  • ann sim 1

    my son - cornelia de lange syndrome

    my son has classical cornelia de lange syndrome he is middle line of the chart but they are trying to fatten him up on things which it says not to and they are talking about a peg to feed milk through i am at the end of my tether and certain bodies of health are making me feel that they think i am not...

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  • Guest M
  • Guest M

    Toxic Epidermal Necrolysis (TENs)

    my husband had this but being West Indian the blisters showed as a rash. the most scarey thing is the loss of skin. He lost 100%. He scored 6 which gave him a survival rate of 10%, but he survived against the odds. It took another 2 years before he went back to work. Each patient will react differently...

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  • drew 1

    Horners

    About 2 years ago my wife noticed a sudden change in the size of the pupils (right eye small and undilated) along with a drooping of the eyelid. I aranged an examination at an optician (after looking up the syptoms on the internet I had worries about brain tumor so was extremely anxious) the opticain...

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  • winnie97 1

    Systemic Sclerosis new symptoms

    i was diagnosed with systemic scleosis after 9 months of tests just before xmas and put on a course of steroids, i was told that i have limited sclerosis. since being on the steroids my symptoms seem to have either stayed the same or worsened. i have developed a nodule on the same place on each big toe...

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  • Guest M

    bicornuate uterus

    my daughter was found to have this condition after having 2 miscarriages. she went on to have a successful pregnancy(full term). although she had further miscarriage she is now 22weeks pregnant so hopefully this will have successful outcome too.

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  • Guest M

    My 7 y/o has Biotinidase Deficiency... He's Amazing!

    My son is a fraternal twin. From birth until he was a year old, we thought we had healthy twin boys. At a year old I took them off of formula and switched them to whole milk. About a month later he developed severe excema and within three days he had lost all of his hair. He was the first to crawl, walk,...

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  • jaid.wood1 1
  • Guest M

    my life with horners syndrome

    i got horners syndrome before i was diagnosed with a 3 1/2lb tumour, i went 2 doctors because my face only sweated dow 1 side, his response was have u been sunbathin on 1 side, and oh thats unusual! When i was told i had the tumour attached to my chest wall, i went straight into surgery. Afterwards i...

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  • Guest M

    Systemic Sclerosis take good care

    :cry: My poor mother had systemic sclerosis, she was very well looked after by her doctor and by the hospital staff at the Southern Genaral Glasgow. The only thing was, we are so saddened not to have know how serious this really is, you should always look after yourself, but with this you should really...

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  • barbaragaye 1

    my special fanconi's boy

    8) My son Brian was diagnosed with FA when he was twelve weeks old. He had outward abnormalities leading to his rather early diagnoses. He is now an amazing 7year old who has a tramendous personality and determination. Although we have had quite a few trips on the emotional rollercoaster Brian takes...

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  • Guest M

    Horner's

    I was diagnosed following an eye examination and referral. Still unsure what caused it although I did suffer a bang on the head. One pupil is smaller than the other and I have a slight drooping on the effected eye lid. Other than migraines which I had before I still lead a normal life.

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  • Guest M
  • Guest M

    re:poems syndrome

    I have already posted regarding my husbands illness which is POEMS syndrome.He had stem cell transplant in sept 2005 and he has improved a lot.Eventhough Drs predicted 50% recovery it seems like 90% .He still got the neuropathy on his legs but symptoms improved a lot. He still on Gabapentin and Amitriptyline...

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  • Guest M
  • MRS P 1
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