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Possible SCID

(1 Post)
canweseethebunnies Sat 02-May-15 15:25:52

Wondering if anyone out there can help?

DD is six and a half months. About 5 weeks ago she developed bruising and a non-blanching rash and she was admitted to hospital overnight. She was well in her self, but blood tests revealed very low platelets and she was diagnosed with ITP. Two weeks later she developed a fever which still hadn't subsided after 5 days. GP said it was a virus. The next day she had a blood test to check on her platelets, which had gone up but her neutrophils were very low. She was admitted again and put on IV antibiotics because she had a temperature. Alarm bells were ringing and we were sent for a bone marrow aspiration to check for leukaemia, which was then ruled out. The fever eventually subsided after ten days and we were sent home, but platelets dropped again and neutrophils have not increased.

Since then we have been for further test which showed almost non-existent T-cells. On Thursday we were sent to Great Ormond Street for genetic testing for Severe Combined Immune Defeiciency (SCID) which is a life threatening illness which can only be cured with a bone marrow transplant. We are awaiting results. Terrifying stuff.

The thing is, whilst on paper it looks like SCID, she doesn't really fit the profile. Usually it presents with recurrent infections and failure to thrive. Well, she is a respectable 10kg at just over six-months and has never had so much as an ear infection. She had a couple of colds over the winter but nothing serious.

Doctors say she is at serious risk of infection and have put her on preventative antibiotics and anti-fungals and yesterday she had an immunoglobulin infusion to try and boost her immune system. She is totally well at the moment.

Has anyone else had a child with SCID that has presented this way? Has anyone had similar symptoms that have turned out to be something else?

We are currently baffled and very worried about our beautiful little girl!

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