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for those studying medicine/in the medical profession - what is my diagnosis?
Ok,I obviously know what illness I have, but I am curious to know whether any of you will know it. Ok, from these indicators, do you know what it is: 1. intrauterus growth retardation 2. haemaglobin of 5g/dl on admission to hospital in 2006, previous history of requiring blood transfusion 3. cardiac surgery at 6 years old, ASD repair 4. treatment including blood transfusions and failed use of prednisolone steroids 5. predisposition to cancer 6. accumulation of iron overload, particularly in heart and liver requiring iron chelation treatment 7. three phalangeal right thumb Additional notes on medical history *Bronchiolitis at 3 months *Steven Johnson syndrome aged 5 years - leading to discovery of ASD * enlarged liver, and thyroid with a mass of 2.7 x 1.9cm Thanks for taking the time to do this! Good luck, and i look forward to seeing what you come up with and how you get on. Not a test as such, just an experiment out of curiosity. Dont worry if you dont have time or dont want to do it, but i thought it would be interesting. I'm a 22 year old female, but this illness is *usually* diagnosed earlier. Asmed - I will put the diagnosis on the notes when the question closes. Its a shame you dont allow emails from other users, i was going to email it to you to put you out of your misery, i dont want to spoil if for those who may be enjoying the light entertainment!! haha! :p Sorry guys, its not Fanconi! I was tested for that, as it is similar, but it is not what it is.
Public Comments
- So you're testing us? Ha
- How come you are still around. We all have illnesses maybe not like yours but I suggest you forget it and get on enjoying life as it is.
- Age? Gender? I would say an Enzymatic Problem Maybe Haemochromotosis Can you tell us please, i want to knwo now??!!! It's gona keep me up all night, put me out of my misary lol plz email me asif1912@hotmail.com Thought of another one, Sickle Cell Trait???? It is NOT Fanconi Anaemia, thats in the kidneys. Doesn't match the symptoms.
- no idea
- Fanconi's anemia is my first thought. Small stature, thumb anomalies, anemia and/or pancytopenia are common. They are predisposed to leukemia and other cancers. My guess is that iron overload is from repeated transfusions, not the disease itself. If I am correct, what do your doctors say about the possibility of bone marrow transplant or the use of stem cells? I know next to nothing about this type of treatment. Malformations secondary to maternal thalidomide intake crossed my mind, but I think that diagnosis is a stretch. Edit: Not Fanconi's? With liver enlargement, perhaps Gaucher's disease. Another storage disease such as Nieman Pick disease is less likely. You didn't mention any neurological problems, so I ruled out ataxia-telangectasia. Bloom syndrome is a possibility, but most patients are quite retarded, and you sound very intelligent. Ditto for Nijmegan breakage syndrome. I discounted the bronchiolitis as coincidental, and I cannot fit Stevens-Johnson syndrome and the thyroid mass into the diagnosis.
- Fanconi anemia. http://www.fanconi.org/ It took a bit of research, but I think it fits. Best of luck to you - that must not be fun to deal with. Aw - greydoc beat me to the punch!
