Fatal mitochondrial Fatal mitochondrial disease. This is a disease. This is a disease of the brain and disease of the brain and liver.liver.

Most of the time their will be three main symptoms:Most of the time their will be three main symptoms:- seizures- seizures- loss of developmental - loss of developmental

milestones milestones-liver disease-liver disease

These are the main ones you would see most often These are the main ones you would see most often with this disease. with this disease.

*Note*Note : There are more then the three listed symptoms : There are more then the three listed symptoms above.above.

Im prope r S h unting o f b loodIm prope r S h unting o f b lood- Norma lly, the a mmonia produce d by prote in bre a kdown - Norma lly, the a mmonia produce d by prote in bre a kdown in the bowe l is me ta boliz e d to ure a in the live r. Whe n in the bowe l is me ta boliz e d to ure a in the live r. Whe n porta l b lood s hunts pa s t the live r, a mmonia dire c tly e nte rs porta l b lood s hunts pa s t the live r, a mmonia dire c tly e nte rs the s ys te mic c ircula tion a nd is c a rrie d to the bra in. the s ys te mic c ircula tion a nd is c a rrie d to the bra in. - S uch s hunting ma y re s ult from the colla te ra l ve nous - S uch s hunting ma y re s ult from the colla te ra l ve nous c ircula tion tha t de ve lops in porta l hype rte ns ion or from c ircula tion tha t de ve lops in porta l hype rte ns ion or from s urg ica lly c re a te d porta l-s ys te mic s hunts . Cirrhos is furthe r s urg ica lly c re a te d porta l-s ys te mic s hunts . Cirrhos is furthe r compounds th is proble m be ca us e impa ire d he pa toce llula r compounds th is proble m be ca us e impa ire d he pa toce llula r func tion pre ve nts conve rs ion of a mmonia tha t re a che s the func tion pre ve nts conve rs ion of a mmonia tha t re a che s the live r.live r.

F a c tors tha t pre dis pos e to ris ing a mmonia le ve ls inc lude F a c tors tha t pre dis pos e to ris ing a mmonia le ve ls inc lude e xce s s ive prote in inta ke , s e ps is , e xce s s ive a ccumula tion e xce s s ive prote in inta ke , s e ps is , e xce s s ive a ccumula tion of nitrog e nous body wa s te s , a nd ba c te ria l a c tion on of nitrog e nous body wa s te s , a nd ba c te ria l a c tion on prote in a nd ure a to form a mmonia . prote in a nd ure a to form a mmonia .

- Ce rta in othe r fa c tors he ig h te n the bra in’s s e ns itivity to - Ce rta in othe r fa c tors he ig h te n the bra in’s s e ns itivity to a mmonia intoxica tion, inc luding fluid a nd e le c trolyte a mmonia intoxica tion, inc luding fluid a nd e le c trolyte imba la nce s (e s pe c ia lly me ta bolic a lka los is ), hypoxia , imba la nce s (e s pe c ia lly me ta bolic a lka los is ), hypoxia , a z ote mia , impa ire d g lucos e me ta bolis m, infe c tion, a nd a z ote mia , impa ire d g lucos e me ta bolis m, infe c tion, a nd a dminis tra tion of s e da tive s , na rcotic s , a nd g e ne ra l a dminis tra tion of s e da tive s , na rcotic s , a nd g e ne ra l

a ne s the tic s .a ne s the tic s .

Who are the victims? What Who are the victims? What medication is there for the disease?medication is there for the disease?

VictimsVictims- The victims are usually newborns, infants, - The victims are usually newborns, infants, and little children.and little children.

MedicationMedication- Unfortunately, each case is different. The - Unfortunately, each case is different. The doctors must be able to figure out first that it doctors must be able to figure out first that it isis a mitochondrial disease. Second, usually a mitochondrial disease. Second, usually they will have to find a medication they think they will have to find a medication they think will work best for that particular case.will work best for that particular case.

What is the prognosis? Is it going to What is the prognosis? Is it going to get better in the future?get better in the future?

- The prognosis for this rare disease is - The prognosis for this rare disease is poor. Usually people who are diagnosed poor. Usually people who are diagnosed with it die within the fist decade of with it die within the fist decade of their life. This is usually caused by liver their life. This is usually caused by liver failure. Cardio respiratory failure is also failure. Cardio respiratory failure is also a cause of death.a cause of death.

Future:Future:-Sadly, there is no change in the future, -Sadly, there is no change in the future, from what doctors can see, for this from what doctors can see, for this terrible disease.terrible disease.

T h e r e wa s a ne wb or n g ir l na me d Ha ile y . W h e n T h e r e wa s a ne wb or n g ir l na me d Ha ile y . W h e n

s h e wa s a b out 5 mont h s old s h e f ir s t s t a r t e d s h e wa s a b out 5 mont h s old s h e f ir s t s t a r t e d

g e t t ing t h e s ympt oms of a d is e a s e or illne s s . g e t t ing t h e s ympt oms of a d is e a s e or illne s s .

N one of t h e d oc t or s kne w wh a t s h e h a d N one of t h e d oc t or s kne w wh a t s h e h a d

e x a c t ly . A ll t h e y kne w wa s t h a t it wa s ve r y, e x a c t ly . A ll t h e y kne w wa s t h a t it wa s ve r y,

ve r y r a r e . W e e ks g o b y a nd t h e lit t le g ir l wa s ve r y r a r e . W e e ks g o b y a nd t h e lit t le g ir l wa s

b a c k t o nor ma l. A t 14 mont h s s h e b e g a n t o a c t b a c k t o nor ma l. A t 14 mont h s s h e b e g a n t o a c t

unlike h e r s e lf a g a in. S o h e r mom a nd d a d we nt unlike h e r s e lf a g a in. S o h e r mom a nd d a d we nt

t o t h e E R. onc e mor e . T h e y s t a ye d ove r nig h t t o t h e E R. onc e mor e . T h e y s t a ye d ove r nig h t

a nd t h e ne x t d a y s h e wa s b a c k t o nor ma l, a nd t h e ne x t d a y s h e wa s b a c k t o nor ma l,

pla y ing wit h h e r t oys a nd e a t ing nor ma l t oo. pla y ing wit h h e r t oys a nd e a t ing nor ma l t oo.

Howe ve r , s h e h a d t o ke e p g oing b a c k t h e E R. a Howe ve r , s h e h a d t o ke e p g oing b a c k t h e E R. a

lot wit h in t h e ne x t f e w mont h s b e c a us e s h e lot wit h in t h e ne x t f e w mont h s b e c a us e s h e

ke pt h a ving s e iz ur e s a nd s h ook r e a lly b a d . ke pt h a ving s e iz ur e s a nd s h ook r e a lly b a d .

A mont h or s o la t e r Ha ile y ’s pa r e nt s we r e f ina lly A mont h or s o la t e r Ha ile y ’s pa r e nt s we r e f ina lly t old wh a t t h e ir pr e c ious lit t le g ir l h a d , A lpe r s t old wh a t t h e ir pr e c ious lit t le g ir l h a d , A lpe r s S ynd r ome . He r mom a s ke d a b out h ow long S ynd r ome . He r mom a s ke d a b out h ow long t h e y h a d le f t wit h t h e ir lit t le b und le of j oy . t h e y h a d le f t wit h t h e ir lit t le b und le of j oy . T h e d oc t or a ns we r e d “I t ’s h a r d t o t e ll b ut I T h e d oc t or a ns we r e d “I t ’s h a r d t o t e ll b ut I would s a y a b out 3 mont h s ma ’a m.” Ha ile y ’s would s a y a b out 3 mont h s ma ’a m.” Ha ile y ’s mom a nd d a d h a d mom a nd d a d h a d no no c h oic e b ut t o pla n t o t a ke c h oic e b ut t o pla n t o t a ke Ha ile y of f of lif e s uppor t . J us t mome nt s Ha ile y of f of lif e s uppor t . J us t mome nt s a f t e r t h e y t ook h e r of f of t h a t lif e s uppor t a f t e r t h e y t ook h e r of f of t h a t lif e s uppor t s h e s lippe d a wa y pe a c e f ully . T h is I S a T RUE s h e s lippe d a wa y pe a c e f ully . T h is I S a T RUE s t or y.s t or y.

**Note: for more information about Hailey’s wish go toNote: for more information about Hailey’s wish go to www.haileyswish.orgwww.haileyswish.org and clickand click read more...read more...

T h i s i s t h e p r e c i o u s H a i l e y t h a t p a s t e d a w a y 4y e a r s a g o b e c a u s e o f h e r d i s e a s e .

T h i s i s a T h i s i s a p i c t u r e o f a n p i c t u r e o f a n 18 m o n t h y e a r 18 m o n t h y e a r o l d b o y w i t h o l d b o y w i t h A l p e r s A l p e r s S y n d r o m e S y n d r o m e D i s e a s e .D i s e a s e .