Re: e/all- hand wringing/sensory dysfunction issues

[Guest guest]

Thanks for the info. Just so you know, we use a shorter version of

Zipporrah too. It's Porrah (like " pour ah " cup...)We also say Asi (as-ee)

for Asenath. Most of her therapists and doctors know them as such so feel

free to use them rather than their longer names.

See www.caringbridge.org/ia/mitomomof9 and this link to see a real look into

Mito using a photo collage of my girls at www.heartbeatsformito.org

Darla: mommy to

Asenath (4) Mito, CNS Vasculitis, strokes, migraines, seizures, G-tube,

hypotonicity, disautonomy, SID, dev. delays, asthma, cyclic vomiting...

Zipporrah (12 months) Mito, strokes, neuro-motor planning dysfunction, SID,

GERD, 100% G-tube fed, asthma, trach issues, aberrant subclavian artery,

disautonomy, hypo & hypertonicity, migraines, possible seizures, dumping

syndrome, iron deficiency...

Luke (16), Leah (14), Rachael (12), Isaac (10), Tirzah (8), Kezia (3), &

Marquis (2) (some with Mito symptoms)

Re: hand wringing/sensory dysfunction issues

> In a message dated 11/5/2004 2:39:43 PM Eastern Standard Time,

> honeybear50317@... writes:

> She has been having such a hard time sleeping

> because her left side (both arm and leg) have been bothering her so much.

> She gets so irritated with her leg especially.

> Darla, Chelsea actually lost function of her lft arm and leg around 3 yrs,

> I

> was noticing her loss before that. within the past 6 mos, she has

> completely

> regained function and then some. She now prefers to stabilize with her rt

> and

> play with her lft arm. It used to be the other way around. I used to

> wonder

> about stroke damage too, but since it took her so long to regain, I highly

> doubt

> that. It does fit in the pattern of RS, though. There are 4 stages, stage

> 2

> being the rapid destructive, where skills are lost and development

> essentially

> arrests. this usually starts around 18mos to 2 yrs and can go on 2-10yrs.

> Intractable epilepsy is also a feature of this stage.

> Vasculitis and strokes are not seen in RS, in fact, there is typically no

> brain damage in RS. From what I can tell Asi has no RS sx's, so I am not

> sure

> what to think. I would ask Dr Whiteman if she and Zippi has already been

> tested.

> I know that Schoffner runs the FISH analysis on all pts he tests for mito,

> though I am not sure if he does the MecP2 (for RS) and UBE3a (for AS)

> sequencing

> for deletions/mutations.

> I know how confusing this is, I feel like we are still on a merry-go-round

> and I don't know if it will stop at just RS or RS and mito. I certainly

> hope Asi

> perks up soon! OH, Chelsea also has lots of setbacks with illness and

> teething and just overdoing it. Hers is more increased lethargy, seizures,

> and neuro

> sx's. But once the crisis is over, she will bounce back. HTH

>

> e, Chelsea's mom, Atypical Rett Syndrome (FKA nonspecific mito)

>

[Guest guest]

Thanks for the info. Just so you know, we use a shorter version of

Zipporrah too. It's Porrah (like " pour ah " cup...)We also say Asi (as-ee)

for Asenath. Most of her therapists and doctors know them as such so feel

free to use them rather than their longer names.

See www.caringbridge.org/ia/mitomomof9 and this link to see a real look into

Mito using a photo collage of my girls at www.heartbeatsformito.org

Darla: mommy to

Asenath (4) Mito, CNS Vasculitis, strokes, migraines, seizures, G-tube,

hypotonicity, disautonomy, SID, dev. delays, asthma, cyclic vomiting...

Zipporrah (12 months) Mito, strokes, neuro-motor planning dysfunction, SID,

GERD, 100% G-tube fed, asthma, trach issues, aberrant subclavian artery,

disautonomy, hypo & hypertonicity, migraines, possible seizures, dumping

syndrome, iron deficiency...

Luke (16), Leah (14), Rachael (12), Isaac (10), Tirzah (8), Kezia (3), &

Marquis (2) (some with Mito symptoms)

Re: hand wringing/sensory dysfunction issues

> In a message dated 11/5/2004 2:39:43 PM Eastern Standard Time,

> honeybear50317@... writes:

> She has been having such a hard time sleeping

> because her left side (both arm and leg) have been bothering her so much.

> She gets so irritated with her leg especially.

> Darla, Chelsea actually lost function of her lft arm and leg around 3 yrs,

> I

> was noticing her loss before that. within the past 6 mos, she has

> completely

> regained function and then some. She now prefers to stabilize with her rt

> and

> play with her lft arm. It used to be the other way around. I used to

> wonder

> about stroke damage too, but since it took her so long to regain, I highly

> doubt

> that. It does fit in the pattern of RS, though. There are 4 stages, stage

> 2

> being the rapid destructive, where skills are lost and development

> essentially

> arrests. this usually starts around 18mos to 2 yrs and can go on 2-10yrs.

> Intractable epilepsy is also a feature of this stage.

> Vasculitis and strokes are not seen in RS, in fact, there is typically no

> brain damage in RS. From what I can tell Asi has no RS sx's, so I am not

> sure

> what to think. I would ask Dr Whiteman if she and Zippi has already been

> tested.

> I know that Schoffner runs the FISH analysis on all pts he tests for mito,

> though I am not sure if he does the MecP2 (for RS) and UBE3a (for AS)

> sequencing

> for deletions/mutations.

> I know how confusing this is, I feel like we are still on a merry-go-round

> and I don't know if it will stop at just RS or RS and mito. I certainly

> hope Asi

> perks up soon! OH, Chelsea also has lots of setbacks with illness and

> teething and just overdoing it. Hers is more increased lethargy, seizures,

> and neuro

> sx's. But once the crisis is over, she will bounce back. HTH

>

> e, Chelsea's mom, Atypical Rett Syndrome (FKA nonspecific mito)

>