Wednesday, February 11, 2015

My sweet grand-niece, Miri

Sweet Miri

My niece, Kathy's sweet little girl, Miri,  has a dreadful diagnosis.  We in the family have known about it for a few weeks, but have been quiet out of respect for Kathy and her husband Josh.

Miri had her tonsils and adenoids out last week, which Kathy wrote about on Facebook.   On Monday, Kathy wrote this on Facebook:

So besides the tonsil issue, since the immediate family knows now and I finally feel comfortable saying it, Miriam was diagnosed in 12/29/2014 with a rare recessive genetic disorder. It is a lysosomal storage disorder with a really long name, abbreviated MPS IIIB or Sanfilippo B. I do not suggest googling it, let's just say it's attacking her brain and CNS (central nervous system) and there's no cure. But, we've just started a clinical drug trial two weeks ago and she's had no adverse reactions!! And there is promise for gene therapy with trials starting this year too. We'll hopefully know if the drugs are helping any at a 6 month follow up in July. But for now, keep praying. And be hopeful that she finally drinks and eats soon so we can get out of the hospital again.

Miri's 17 month old brother has been tested and does not have the disorder.

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