JDT ([info]techfun) wrote,
@ 2004-09-29 14:48:00
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Family update

Yesterday I found my former sister-in-law Kathie's phone number.  Some folks in Cherry Hill met her when she came for a visit several years ago when I was still in my condo.  Brian and I stopped in to visit her and her husband and kids on our way down to Key West two years ago.  Her new husband Scott is great - a far better choice for a mate than my drug addicted (in rehab thank the Gods), not real bright, older brother Dale.   They are in Royal Palm Beach, Florida, a bit south of [info]teamind and clan.  I wanted to check in and see how they were holding up during the hurricane season.

They and their home have been fine but Kathie has been busy working as a storm chaser.  She is an RN and when Frances struck she traveled to provide medical care there and then she went up to the panhandle to help after Ivan and then she was released early from that task to head home to get ready for Jeanne.   She is now home and catching up with Scott and their two little boys.

The boys, Andrew and Colin are doing well.  Andrew has been diagnosed with Angelman Syndrome (AS)

MeSH definition:
A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)



This is a rare condition and means that chances are Andrew will never speak  but on the other hand he will have a normal lifespan.  That was a fear through much of the diagnostic hell they have gone through since Andrew was born.  They are continuing the thearapy hes been gettign of course and the diagnoses should help them push insurance to pay for some other therapies that could help him communicate on some level even if he can't speak.

Colin is 2 1/2 now and doing fine.  As Kathie put it, hes very very good at being two and loves to let you know that you are doing things wrong and that only he can do it right.  He's also trying to help Andrew alot.  When Andrew can't get out of a room Colin is more than willing to come help him by opening doors and such.

AND, I think I have convinced Kathie and Scott to come up for a visit next spring or summer!




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[info]professorbird
2004-09-29 01:22 pm UTC (link)
I would love to see Kathie again. Please keep me in the loop. And I'm glad to see you having healthy relations with your family. It makes me smile.

When you speak to Kathie again, send her hugs for me.

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