Re: Azzurra affetta da deficit del complesso IV della catena respiratoria mitocondr

[Guest guest]

Welcome to the group. I am glad you have found us and hope we are able

to support you as it sounds like there aren't many that you have been able

to find to communicate about Mito with where you are from. Please tell us

more about your niece/nephew and if you questions, feel free to ask and we

will try to answer.

See www.caringbridge.org/ia/mitomomof9 and www.heartbeatsformito.org to see

a photo look into what Mito looks like

Darla: mommy to

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

hypotonicity, disautonomy, SID, global delays, asthma, cyclic vomiting,

bladder issues, wheelchair for distances, eye issues, autistic behaviors,

gastric emptying issues...

Zipporrah (14 months) Mito, strokes, neuro-motor planning dys., SID, GERD,

dysphasia, 100% G-tube fed, speech delays, extreme fatigue, excessive

phlegm, asthma, trach issues, aberrant subclavian artery, disautonomy,

hypertonicity, migraines, possible seizures, dumping syndrome, iron

deficiency, ...

Luke (16), Leah (14), Rachael (13), Isaac (10), Tirzah (8), Kezia (4), &

Marquis (3), Joey & (12 months) (some with Mito symptoms)

Azzurra affetta da deficit del complesso IV della catena

respiratoria mitocondr

Ciao mi chiamo Cristina e scrivo dall'italia ,sono la zia di una

bambina di nome Azzurra che ha 2 anni e 3 mesi ed è affetta dalla

malattia di leigh ,deficit del complesso 4 della catena

mitocondriale attualmente stiamo aspettando che trovino il gene nel

complesso 4 difettoso per poi analizzare tutta la famiglia .Mia

sorella ha anche un'altra figlia di 11 anni sana ed io ho una

bambina di 2 anni sana e siamo un pò preoccupate Azzurra è il 1°

caso da generazioni nessun parente è malato noi speriamo in un caso

sporadico.

Azzurra come già saprai non cammina non parla e ha il peg per

alimentarsi ,non ha problemi cardiaci ,neppure respiratori non ha

mai avuto attacchi epilettici non ha problemi renali ne problemi

all'udito e ne di vista per ora non sappiamo come si evolverà la

malattia anche perchè casi come il suo non ne abbiamo ancora trovati

cioè abbiamo trovato in italia un bambino con deficit del complesso

4 ma è deceduto a 2 anni .

Adesso vi saluto mi farebbe molto piacere comunicare con voi magari

ci daremo una mano con dei consigli ciao a presto

Cristina Mascagni

Via Toscana N° 13

57124 Livorno Italia

tel.039 0586 864685 Messages Messages Help

Hello I call Cristina and I write dall'italia, are the aunt of a

Blue child of name that has 2 years and 3 months and is slices from

the disease of leigh, deficit of complex 4 of the mitocondriale

chain currently we are waiting for that they find the gene in

defective complex 4 in order then to analyze to all the family Mia

sister has also un'altra healthy daughter of 11 years and I have a

healthy child of 2 taken care years and I am a Blue Pò I am 1° the

case from generations no relative I am sick we I hope in a sporadic

case. Blue as already you will know does not walk does not speak and

has the peg in order to feed itself, does not have problems

cardiaci, not even respiratory it has not never had epilettici

attacks does not have renal problems of problems all'udito and of it

of sight for hour we do not know as evolverà the disease also why

cases as its still we do not have any find to you that is we have

found in Italy a child with deficit of complex 4 but it is passed

away to 2 years. Now you salute would make very appeals to me to

even communicate with you us darem

Please contact mito-owner with any problems or questions.

[Guest guest]

Welcome to the group. I am glad you have found us and hope we are able

to support you as it sounds like there aren't many that you have been able

to find to communicate about Mito with where you are from. Please tell us

more about your niece/nephew and if you questions, feel free to ask and we

will try to answer.

See www.caringbridge.org/ia/mitomomof9 and www.heartbeatsformito.org to see

a photo look into what Mito looks like

Darla: mommy to

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

hypotonicity, disautonomy, SID, global delays, asthma, cyclic vomiting,

bladder issues, wheelchair for distances, eye issues, autistic behaviors,

gastric emptying issues...

Zipporrah (14 months) Mito, strokes, neuro-motor planning dys., SID, GERD,

dysphasia, 100% G-tube fed, speech delays, extreme fatigue, excessive

phlegm, asthma, trach issues, aberrant subclavian artery, disautonomy,

hypertonicity, migraines, possible seizures, dumping syndrome, iron

deficiency, ...

Luke (16), Leah (14), Rachael (13), Isaac (10), Tirzah (8), Kezia (4), &

Marquis (3), Joey & (12 months) (some with Mito symptoms)

Azzurra affetta da deficit del complesso IV della catena

respiratoria mitocondr

Ciao mi chiamo Cristina e scrivo dall'italia ,sono la zia di una

bambina di nome Azzurra che ha 2 anni e 3 mesi ed è affetta dalla

malattia di leigh ,deficit del complesso 4 della catena

mitocondriale attualmente stiamo aspettando che trovino il gene nel

complesso 4 difettoso per poi analizzare tutta la famiglia .Mia

sorella ha anche un'altra figlia di 11 anni sana ed io ho una

bambina di 2 anni sana e siamo un pò preoccupate Azzurra è il 1°

caso da generazioni nessun parente è malato noi speriamo in un caso

sporadico.

Azzurra come già saprai non cammina non parla e ha il peg per

alimentarsi ,non ha problemi cardiaci ,neppure respiratori non ha

mai avuto attacchi epilettici non ha problemi renali ne problemi

all'udito e ne di vista per ora non sappiamo come si evolverà la

malattia anche perchè casi come il suo non ne abbiamo ancora trovati

cioè abbiamo trovato in italia un bambino con deficit del complesso

4 ma è deceduto a 2 anni .

Adesso vi saluto mi farebbe molto piacere comunicare con voi magari

ci daremo una mano con dei consigli ciao a presto

Cristina Mascagni

Via Toscana N° 13

57124 Livorno Italia

tel.039 0586 864685 Messages Messages Help

Hello I call Cristina and I write dall'italia, are the aunt of a

Blue child of name that has 2 years and 3 months and is slices from

the disease of leigh, deficit of complex 4 of the mitocondriale

chain currently we are waiting for that they find the gene in

defective complex 4 in order then to analyze to all the family Mia

sister has also un'altra healthy daughter of 11 years and I have a

healthy child of 2 taken care years and I am a Blue Pò I am 1° the

case from generations no relative I am sick we I hope in a sporadic

case. Blue as already you will know does not walk does not speak and

has the peg in order to feed itself, does not have problems

cardiaci, not even respiratory it has not never had epilettici

attacks does not have renal problems of problems all'udito and of it

of sight for hour we do not know as evolverà the disease also why

cases as its still we do not have any find to you that is we have

found in Italy a child with deficit of complex 4 but it is passed

away to 2 years. Now you salute would make very appeals to me to

even communicate with you us darem

Please contact mito-owner with any problems or questions.

[Guest guest]

Welcome to the group i am sorry that you have to meet us this way, yet , its a great place for information. I dont speak italian, only spanish . I hope that you can find the support you need.

sarah mom to zach 4 ga2 and possible aspiration and or weakened immune system alexis now 6 Darla Klein wrote:

Welcome to the group. I am glad you have found us and hope we are able to support you as it sounds like there aren't many that you have been able to find to communicate about Mito with where you are from. Please tell us more about your niece/nephew and if you questions, feel free to ask and we will try to answer. :)See www.caringbridge.org/ia/mitomomof9 and www.heartbeatsformito.org to see a photo look into what Mito looks likeDarla: mommy toAsenath (4) Mito, CNS Vasculitis, strokes, migraines, seizures, G-tube, hypotonicity, disautonomy, SID, global delays, asthma, cyclic vomiting, bladder issues, wheelchair for distances, eye issues, autistic behaviors, gastric emptying issues...Zipporrah (14 months) Mito, strokes, neuro-motor planning dys., SID, GERD, dysphasia, 100% G-tube fed,

speech delays, extreme fatigue, excessive phlegm, asthma, trach issues, aberrant subclavian artery, disautonomy, hypertonicity, migraines, possible seizures, dumping syndrome, iron deficiency, ...Luke (16), Leah (14), Rachael (13), Isaac (10), Tirzah (8), Kezia (4), & Marquis (3), Joey & (12 months) (some with Mito symptoms) Azzurra affetta da deficit del complesso IV della catena respiratoria mitocondrCiao mi chiamo Cristina e scrivo dall'italia ,sono la zia di unabambina di nome Azzurra che ha 2 anni e 3 mesi ed è affetta dallamalattia di leigh ,deficit del complesso 4 della catenamitocondriale attualmente stiamo aspettando che trovino il gene nelcomplesso 4 difettoso per poi analizzare tutta la

famiglia .Miasorella ha anche un'altra figlia di 11 anni sana ed io ho unabambina di 2 anni sana e siamo un pò preoccupate Azzurra è il 1°caso da generazioni nessun parente è malato noi speriamo in un casosporadico.Azzurra come già saprai non cammina non parla e ha il peg peralimentarsi ,non ha problemi cardiaci ,neppure respiratori non hamai avuto attacchi epilettici non ha problemi renali ne problemiall'udito e ne di vista per ora non sappiamo come si evolverà lamalattia anche perchè casi come il suo non ne abbiamo ancora trovaticioè abbiamo trovato in italia un bambino con deficit del complesso4 ma è deceduto a 2 anni .Adesso vi saluto mi farebbe molto piacere comunicare con voi magarici daremo una mano con dei consigli ciao a prestoCristina MascagniVia Toscana N° 1357124 Livorno Italiatel.039 0586 864685 Messages Messages HelpHello I call Cristina and I write dall'italia, are the aunt of aBlue

child of name that has 2 years and 3 months and is slices fromthe disease of leigh, deficit of complex 4 of the mitocondrialechain currently we are waiting for that they find the gene indefective complex 4 in order then to analyze to all the family Miasister has also un'altra healthy daughter of 11 years and I have ahealthy child of 2 taken care years and I am a Blue Pò I am 1° thecase from generations no relative I am sick we I hope in a sporadiccase. Blue as already you will know does not walk does not speak andhas the peg in order to feed itself, does not have problemscardiaci, not even respiratory it has not never had epiletticiattacks does not have renal problems of problems all'udito and of itof sight for hour we do not know as evolverà the disease also whycases as its still we do not have any find to you that is we havefound in Italy a child with deficit of complex 4 but it is passedaway to 2 years. Now you salute would

make very appeals to me toeven communicate with you us daremPlease contact mito-owner with any problems or questions.

[Guest guest]

Welcome to the group i am sorry that you have to meet us this way, yet , its a great place for information. I dont speak italian, only spanish . I hope that you can find the support you need.

sarah mom to zach 4 ga2 and possible aspiration and or weakened immune system alexis now 6 Darla Klein wrote:

Welcome to the group. I am glad you have found us and hope we are able to support you as it sounds like there aren't many that you have been able to find to communicate about Mito with where you are from. Please tell us more about your niece/nephew and if you questions, feel free to ask and we will try to answer. :)See www.caringbridge.org/ia/mitomomof9 and www.heartbeatsformito.org to see a photo look into what Mito looks likeDarla: mommy toAsenath (4) Mito, CNS Vasculitis, strokes, migraines, seizures, G-tube, hypotonicity, disautonomy, SID, global delays, asthma, cyclic vomiting, bladder issues, wheelchair for distances, eye issues, autistic behaviors, gastric emptying issues...Zipporrah (14 months) Mito, strokes, neuro-motor planning dys., SID, GERD, dysphasia, 100% G-tube fed,

speech delays, extreme fatigue, excessive phlegm, asthma, trach issues, aberrant subclavian artery, disautonomy, hypertonicity, migraines, possible seizures, dumping syndrome, iron deficiency, ...Luke (16), Leah (14), Rachael (13), Isaac (10), Tirzah (8), Kezia (4), & Marquis (3), Joey & (12 months) (some with Mito symptoms) Azzurra affetta da deficit del complesso IV della catena respiratoria mitocondrCiao mi chiamo Cristina e scrivo dall'italia ,sono la zia di unabambina di nome Azzurra che ha 2 anni e 3 mesi ed è affetta dallamalattia di leigh ,deficit del complesso 4 della catenamitocondriale attualmente stiamo aspettando che trovino il gene nelcomplesso 4 difettoso per poi analizzare tutta la

famiglia .Miasorella ha anche un'altra figlia di 11 anni sana ed io ho unabambina di 2 anni sana e siamo un pò preoccupate Azzurra è il 1°caso da generazioni nessun parente è malato noi speriamo in un casosporadico.Azzurra come già saprai non cammina non parla e ha il peg peralimentarsi ,non ha problemi cardiaci ,neppure respiratori non hamai avuto attacchi epilettici non ha problemi renali ne problemiall'udito e ne di vista per ora non sappiamo come si evolverà lamalattia anche perchè casi come il suo non ne abbiamo ancora trovaticioè abbiamo trovato in italia un bambino con deficit del complesso4 ma è deceduto a 2 anni .Adesso vi saluto mi farebbe molto piacere comunicare con voi magarici daremo una mano con dei consigli ciao a prestoCristina MascagniVia Toscana N° 1357124 Livorno Italiatel.039 0586 864685 Messages Messages HelpHello I call Cristina and I write dall'italia, are the aunt of aBlue

child of name that has 2 years and 3 months and is slices fromthe disease of leigh, deficit of complex 4 of the mitocondrialechain currently we are waiting for that they find the gene indefective complex 4 in order then to analyze to all the family Miasister has also un'altra healthy daughter of 11 years and I have ahealthy child of 2 taken care years and I am a Blue Pò I am 1° thecase from generations no relative I am sick we I hope in a sporadiccase. Blue as already you will know does not walk does not speak andhas the peg in order to feed itself, does not have problemscardiaci, not even respiratory it has not never had epiletticiattacks does not have renal problems of problems all'udito and of itof sight for hour we do not know as evolverà the disease also whycases as its still we do not have any find to you that is we havefound in Italy a child with deficit of complex 4 but it is passedaway to 2 years. Now you salute would

make very appeals to me toeven communicate with you us daremPlease contact mito-owner with any problems or questions.

[Guest guest]

Hello Cristina, Im so sorry to hear that your niece is affected with

mitochondrial disease, complex 4 leighs. I know it very difficult

to watch your sister and niece suffer. I am of 1st generation in

America, my mother is from Naples and my father Abruzzia, Italy.

With exception of my youngest son and now me with adult onset of

MELAS, complex one, form of mitochondrial disease, there are no

other family members affected. My son 's neurologist

explained this could have been in our family many generations ago,

and now it is affecting us now. Unfortunely you will find other

case of mitochondrial disease in Italy, in time. This is a

wonderful place for information and support, so please let us know

how your niece and sister and your family are doing and if you have

any questions. also you can try www.mdausa.org and www.umdf.org

for more information. Does anyone in your family speak English. My

Italian is not so good anymore, as my memory is affected. But if

there is a family member that speaks English i would be more than

willing to call you on the telephone. I will keep your family in

our prayers. I know this is very devistating disease, be there for

your niece and you sister will need your love and support and

strenght. let us know how your family is doing or if you have any

questions. Barbara

[Guest guest]

Hello Cristina, Im so sorry to hear that your niece is affected with

mitochondrial disease, complex 4 leighs. I know it very difficult

to watch your sister and niece suffer. I am of 1st generation in

America, my mother is from Naples and my father Abruzzia, Italy.

With exception of my youngest son and now me with adult onset of

MELAS, complex one, form of mitochondrial disease, there are no

other family members affected. My son 's neurologist

explained this could have been in our family many generations ago,

and now it is affecting us now. Unfortunely you will find other

case of mitochondrial disease in Italy, in time. This is a

wonderful place for information and support, so please let us know

how your niece and sister and your family are doing and if you have

any questions. also you can try www.mdausa.org and www.umdf.org

for more information. Does anyone in your family speak English. My

Italian is not so good anymore, as my memory is affected. But if

there is a family member that speaks English i would be more than

willing to call you on the telephone. I will keep your family in

our prayers. I know this is very devistating disease, be there for

your niece and you sister will need your love and support and

strenght. let us know how your family is doing or if you have any

questions. Barbara