The most amazing things happen
Nov. 18th, 2005 06:45 pm![[personal profile]](https://www.dreamwidth.org/img/silk/identity/user.png){kind=small}
vaxjediSo, Eleri had a message on her phone from Dr. Ellen Magenis. For those who just joined us, Dr. Ellen Magenis is a nice (unless you are an intern) old woman who happens to be a world-famous geneticist.
You see, a few years ago in Oregon, when we were exploring Miri's problems, she saw Dr. Magenis for Smith-Magenis Syndrome. They thought she was close in terms of symptoms. But the tests kept coming back negative. We havent heard from her for a year and a half. And there was a call from her on Eleri's cell.
Eleri calls her back and gets the news. They found it. They found Miri's mutation. It's a small mutution in one particular gene sequence. But two different research labs found it and have confirmed their findings. It's a variation they've never seen before, but it's in the sequence for Smith-Magenis. So Miri is officially and definitively diagnosed with Smith-Magenis Syndrome
(note that the description in that page does not include the variation the researches just found in Miri. Oh and in the pictures along the top, Dr. Magenis is on the far right).
So, they are going to write Miri up for a paper to be submitted to major medical journals. She is a bona fide medical curiosity.
And what does this mean? One, we have a diagnosis. There is something we can point out without question that is causing issues. This may also open up treatment options, from things that have helped with other SMS kids to gene therapy. And it's something that the insurance company and state agencies can't wave away - it's not Pervasive Developmental Disorder, a nebulous 'we don't know what is happening' thing. It's a definite and documented genetic syndrome. Plus it opens up support communities and possibly other resources.
Eleri was right, all this time. She found info about Smith-Magenis years ago and said "This is my kid." She said this years before most parents even notice an issue with their kids. She told doctor after doctor until someome listened. And years later, after the doctors said she was wrong, they came back and (I quote) "You were right all along." Let's hear it for mother's intuition.
On other notes, Miri is back from the sub-acute facility. They have her on less medication than before (no lithium, yay!). And she seems to be calmer. And we are better too. The evaluation has gone to the Snomomish county Department of Developmental Disabilities and they have applied for a medicaid waiver for us from the state. If we get that, then another world of services open up for us - therapies, transportation, more respite.
We have hope again. We really have hope again.
You see, a few years ago in Oregon, when we were exploring Miri's problems, she saw Dr. Magenis for Smith-Magenis Syndrome. They thought she was close in terms of symptoms. But the tests kept coming back negative. We havent heard from her for a year and a half. And there was a call from her on Eleri's cell.
Eleri calls her back and gets the news. They found it. They found Miri's mutation. It's a small mutution in one particular gene sequence. But two different research labs found it and have confirmed their findings. It's a variation they've never seen before, but it's in the sequence for Smith-Magenis. So Miri is officially and definitively diagnosed with Smith-Magenis Syndrome
(note that the description in that page does not include the variation the researches just found in Miri. Oh and in the pictures along the top, Dr. Magenis is on the far right).
So, they are going to write Miri up for a paper to be submitted to major medical journals. She is a bona fide medical curiosity.
And what does this mean? One, we have a diagnosis. There is something we can point out without question that is causing issues. This may also open up treatment options, from things that have helped with other SMS kids to gene therapy. And it's something that the insurance company and state agencies can't wave away - it's not Pervasive Developmental Disorder, a nebulous 'we don't know what is happening' thing. It's a definite and documented genetic syndrome. Plus it opens up support communities and possibly other resources.
Eleri was right, all this time. She found info about Smith-Magenis years ago and said "This is my kid." She said this years before most parents even notice an issue with their kids. She told doctor after doctor until someome listened. And years later, after the doctors said she was wrong, they came back and (I quote) "You were right all along." Let's hear it for mother's intuition.
On other notes, Miri is back from the sub-acute facility. They have her on less medication than before (no lithium, yay!). And she seems to be calmer. And we are better too. The evaluation has gone to the Snomomish county Department of Developmental Disabilities and they have applied for a medicaid waiver for us from the state. If we get that, then another world of services open up for us - therapies, transportation, more respite.
We have hope again. We really have hope again.
![[identity profile]](https://www.dreamwidth.org/img/silk/identity/openid.png){kind=small}
no subject
Date: 2005-11-19 02:56 am (UTC)no subject
Date: 2005-11-19 03:05 am (UTC)no subject
Date: 2005-11-19 03:28 am (UTC)*HUGS*
no subject
Date: 2005-11-19 03:54 am (UTC)But I'm glad you finally have a useful diagnosis. Such things are always good for convincing insurance companies that Dammit, Yes, There Really Is Something Wrong, And It's Treatable, Dammit™.
*hugs your family because you need it in this time of Good-News/Bad-News*
no subject
Date: 2005-11-19 08:29 pm (UTC)no subject
Date: 2005-11-20 08:25 pm (UTC)i am glad miri is ok
Date: 2005-11-21 10:42 pm (UTC)Re: i am glad miri is ok
Date: 2005-11-28 06:43 pm (UTC)Re: i am glad miri is ok
Date: 2005-11-29 04:56 pm (UTC)Re: i am glad miri is ok
Date: 2005-11-29 05:26 pm (UTC)no subject
Date: 2005-11-30 01:13 am (UTC)Oh, my God! What fabulous news! And just in time for the holiday! :)
*HUG*
I'm SO glad things are looking up...
yea
Date: 2005-12-02 07:11 pm (UTC)