Mito / dwarfism any others effected

[Guest guest]

Hi All

My 11 month old son has been provisionally diagnosed with a Mito

disorder. The actual type has not yet been identified. However

ongoing blood tests and the result from his last MRI according to

South African specialists " makes the likelihood that it is not a

Mito Disorder very unlikely. "

At birth my son was diagnosed as a dwarf (short limbs larger head

normal trunk)but the actual type has and had baffled doctors as he

also has a severe hearing loss (responds well to hearing aids,

Nystagmus, hypotonia (at 11 months little head control and not

sitting) and developmental delays.

The doctors became so focussed on trying to fit things into the

dwarfism category that they didn't look at the whole picture. They

eventually concluded that my son was a dwarf (type unknown -

atypical features - in that only his size was stunted but no other

features of dwarfism were present), that his hearing was inherited

from his mother who has a slight hearing loss and whose sisters all

have variable hearing losses. And that the Nystagmus and eye

problems

were probably developmental and would go away once the child has

matured - this because it didn't fit in under the dwarfism

category. To be honest though, they didn't like the multiple

diagnosis scenario but couldn't think of anything else.

Recently we noticed severe behavioural changes including arching of

the back, uncontrolled bodily movements, and a general loss of

awareness. We had an MRI done where it was picked up that there were

significant changes in his brain structure (From an MRI done at 6

weeks)specifically in the areas, which require the most energy from

cells (Ganges? -I'm no doctor, I think that's the area). We've just

got back from a follow up with another neurologist who also confirms

the findings but mentions that according to him the Brain issues

were

present at the first MRI but just not as pronounced - I guess it's

easier to find when you are looking for it and not focussed in

trying to find dwarfism features.

But any way, from his diagnoses he believes that he has a Mito

disorder and due to the effects on the brain and the stunted growth

that the disorder is severe.

My questions are:

1. Does anyone know of a previous scenario where a Mito disorder

caused dwarfism or dwarf like features i.e. short arms and legs,

normal trunk and larger head? I know short stature is a feature but

from what I've read (internet)it is usually in proportion.

2. Would those in the now also agree with the likelihood of a Mito

Disorder and the possible severity of his.

3. Our doctors talk of Episodes ie the child is doing well has a

lapse where things go backwards...(hopefully) pulls out of it & gets

relatively better but sometimes never quite to the level they

originally were or could have been prior to that episode...and then

could have another episode ...and so on. Is this the way anyone else

would describe it...I don't see any mention of this type of

situation on any of the sites I've visited.

Any help I'd appreciate it.

Sorry for the long post.

Father Of Connor - the sweetest child

[Guest guest]

davidrich31843 wrote:

Hi i am the proud parent of a mito baby that is g-tube fed that always is failure to thrive and small her body weight is the weight of a thirteen month old and she is as long as a 18 month old and she has the head circimfrance of a 20 month old and she is 29 months old but an absolute joy. has anyone suggested a muscle biopsy? could the hearing loss be from moms side? what else is affected? seizures? dysautonomia, etc.... have you seen a nuerologist? genetics doc?My 11 month old son has been provisionally diagnosed with a Mito disorder. The actual type has not yet been identified. However ongoing blood tests and the result from his last MRI according to South African specialists "makes the likelihood that it is not a Mito Disorder very unlikely." At birth my son was diagnosed as a dwarf (short limbs larger head normal trunk)but the

actual type has and had baffled doctors as he also has a severe hearing loss (responds well to hearing aids, Nystagmus, hypotonia (at 11 months little head control and not sitting) and developmental delays. The doctors became so focussed on trying to fit things into the dwarfism category that they didn't look at the whole picture. They eventually concluded that my son was a dwarf (type unknown - atypical features - in that only his size was stunted but no other features of dwarfism were present), that his hearing was inherited from his mother who has a slight hearing loss and whose sisters all have variable hearing losses. And that the Nystagmus and eye problems were probably developmental and would go away once the child has matured - this because it didn't fit in under the dwarfism category. To be honest though, they didn't like the multiple diagnosis scenario but couldn't think of anything else.Recently we

noticed severe behavioural changes including arching of the back, uncontrolled bodily movements, and a general loss of awareness. We had an MRI done where it was picked up that there were significant changes in his brain structure (From an MRI done at 6 weeks)specifically in the areas, which require the most energy from cells (Ganges? -I'm no doctor, I think that's the area). We've just got back from a follow up with another neurologist who also confirms the findings but mentions that according to him the Brain issues were present at the first MRI but just not as pronounced - I guess it's easier to find when you are looking for it and not focussed in trying to find dwarfism features. But any way, from his diagnoses he believes that he has a Mito disorder and due to the effects on the brain and the stunted growth that the disorder is severe.My questions are:1. Does anyone know of a previous scenario where a

Mito disorder caused dwarfism or dwarf like features i.e. short arms and legs, normal trunk and larger head? I know short stature is a feature but from what I've read (internet)it is usually in proportion.2. Would those in the now also agree with the likelihood of a Mito Disorder and the possible severity of his.3. Our doctors talk of Episodes ie the child is doing well has a lapse where things go backwards...(hopefully) pulls out of it & gets relatively better but sometimes never quite to the level they originally were or could have been prior to that episode...and then could have another episode ...and so on. Is this the way anyone else would describe it...I don't see any mention of this type of situation on any of the sites I've visited.Any help I'd appreciate it.Sorry for the long post.Father Of Connor - the sweetest childPlease contact

mito-owner with any problems or questions.

[Guest guest]

, I don't know much about dwarfism, but I do know that it can be a symptom in certain syndromes. Has your son had a chromosome analysis? (I would assume so, since he has had other testing). There have also been some more detailed chromosome tests that have recently become available. My daughter was previously thought to have a mito disease, but a simple genetic blood test revealed she has the gene mutation for a condition called Rett Syndrome. This test was just developed 5 yrs ago after discovering the gene responsible is on the 'X' chromosome.

As for the mortality of mito, there is really no way to predict. Many drs base their opinions on case histories of other patients and, unfortunatly, not mcuh is known about mito. 4 yrs ago, my daughter was very ill from pneumonia caused by dysphagia. She was very weak and could not keep herself clear. All of her local drs "prepared" us for her inevitable death, which was assumed to be in the next year or 2. I was told because she had mito, she would not get any better. Well, she did get much better, and now can keep herself clear, unless she is ill. There are others, who do have mito, who have been thru the same thing. Hang in there! I know it's hard dealing with this, but you will find many helpful, and caring families on this list.

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

[Guest guest]

,

> My questions are:

>

> 1. Does anyone know of a previous scenario where a Mito disorder

> caused dwarfism or dwarf like features i.e. short arms and legs,

> normal trunk and larger head? I know short stature is a feature but

> from what I've read (internet)it is usually in proportion.

If you look in the archives you will see many parents reporting

oversize heads for our mito kids (my kid ran 75% in headsize when he

was under 5% for weight and height). I have not seen short arms and

legs in most of the posts I have seen.

>

> 2. Would those in the now also agree with the likelihood of a Mito

> Disorder and the possible severity of his.

What you are discribing sounds like Leigh's syndrome. The nystagmas

and leisons on the ganglia of the brain are in the literature. The

arching of the back could be from many different things.

>

> 3. Our doctors talk of Episodes ie the child is doing well has a

> lapse where things go backwards...(hopefully) pulls out of it & gets

> relatively better but sometimes never quite to the level they

> originally were or could have been prior to that episode...and then

> could have another episode ...and so on. Is this the way anyone else

> would describe it...I don't see any mention of this type of

> situation on any of the sites I've visited.

Most of us were told that the progression you are talking about is

common in our kids. If you look in the archives again you will see it

described as both stair steps and black/white marbles.

The kiddo seeming to do well for a while then falling sick then

bounding back is very familiar!! They talked with us about having

enough energy to do things then not quite enough then the drop off to

a newer lower level.

In our case nystagmous got better when his mucles got too weak to

twitch. Arching got better when he could breath better. His body

size caught up with his head size (almost) in the last couple of years.

I am sorry your baby is not doing well but hope that you can find some

answers here and at the UMDF.org site.

Twana

[Guest guest]

Hi

The hearing indeed could be inherited from the mom, which is one of

the reasons Mito is presumed. Her 2 sisters also have hearing

problems but as far as I know thats as far back as it goes...her

mothers family seems fine. We are still in the preliminary stage of

diagnosis although all results received point to a Mito problemm.

His major symptoms apart from the short arms and legs are:

- Damage to the basal Ganglia and atrophy of the brain (common I

believe in some Mito disorders.

- Hypotonia, development delays, eye problems (Nystagmus)

- uncontrolled body movements, arching of back / seizures?

- periods of time where he doesn't seem to be with us ie not lucid

- he also has a large head, low nose bridge and large front fontenel

which could fall under dwarfism.

- Also his hands had a pungent " sweaty feet " smell, which I believe

is present in some forms of Mito.This only became prevalent when he

went onto 2nd cereal foods. This was the same time we noticed the

behavioural changes - hence the MRI. We have since decided(of our

own accord)to take the cereal out of his diet as we were concerned

of a possible inability to break down protiens (GA type 2). Since

doing that the smell has gone away. We will wait until we get a

definite diagnosis before reverting to cereal.

>

> Hi i am the proud parent of a mito baby that is g-tube fed that

always is failure to thrive and small her body weight is the weight

of a thirteen month old and she is as long as a 18 month old and she

has the head circimfrance of a 20 month old and she is 29 months old

but an absolute joy. has anyone suggested a muscle biopsy? could the

hearing loss be from moms side? what else is affected? seizures?

dysautonomia, etc.... have you seen a nuerologist? genetics doc?

>

> My 11 month old son has been provisionally diagnosed with a Mito

> disorder. The actual type has not yet been identified. However

> ongoing blood tests and the result from his last MRI according to

> South African specialists " makes the likelihood that it is not a

> Mito Disorder very unlikely. "

>

> At birth my son was diagnosed as a dwarf (short limbs larger head

> normal trunk)but the actual type has and had baffled doctors as he

> also has a severe hearing loss (responds well to hearing aids,

> Nystagmus, hypotonia (at 11 months little head control and not

> sitting) and developmental delays.

>

> The doctors became so focussed on trying to fit things into the

> dwarfism category that they didn't look at the whole picture. They

> eventually concluded that my son was a dwarf (type unknown -

> atypical features - in that only his size was stunted but no other

> features of dwarfism were present), that his hearing was inherited

> from his mother who has a slight hearing loss and whose sisters

all

> have variable hearing losses. And that the Nystagmus and eye

> problems

> were probably developmental and would go away once the child has

> matured - this because it didn't fit in under the dwarfism

> category. To be honest though, they didn't like the multiple

> diagnosis scenario but couldn't think of anything else.

>

> Recently we noticed severe behavioural changes including arching

of

> the back, uncontrolled bodily movements, and a general loss of

> awareness. We had an MRI done where it was picked up that there

were

> significant changes in his brain structure (From an MRI done at 6

> weeks)specifically in the areas, which require the most energy

from

> cells (Ganges? -I'm no doctor, I think that's the area). We've

just

> got back from a follow up with another neurologist who also

confirms

> the findings but mentions that according to him the Brain issues

> were

> present at the first MRI but just not as pronounced - I guess it's

> easier to find when you are looking for it and not focussed in

> trying to find dwarfism features.

>

> But any way, from his diagnoses he believes that he has a Mito

> disorder and due to the effects on the brain and the stunted

growth

> that the disorder is severe.

>

> My questions are:

>

> 1. Does anyone know of a previous scenario where a Mito disorder

> caused dwarfism or dwarf like features i.e. short arms and legs,

> normal trunk and larger head? I know short stature is a feature

but

> from what I've read (internet)it is usually in proportion.

>

> 2. Would those in the now also agree with the likelihood of a Mito

> Disorder and the possible severity of his.

>

> 3. Our doctors talk of Episodes ie the child is doing well has a

> lapse where things go backwards...(hopefully) pulls out of it &

gets

> relatively better but sometimes never quite to the level they

> originally were or could have been prior to that episode...and

then

> could have another episode ...and so on. Is this the way anyone

else

> would describe it...I don't see any mention of this type of

> situation on any of the sites I've visited.

>

> Any help I'd appreciate it.

>

> Sorry for the long post.

>

>

> Father Of Connor - the sweetest child

>

>

>

>

> Please contact mito-owner with any problems or

questions.

>

>

>

[Guest guest]

Sweaty feet and hands can be an issue of gastro dumping syndrome. My

daughter has had this issue and her issue is not absorbing her nutrients but

dumping it straight through to the intestines and bowels. It causes rapid

blood sugar changes and chronic diarrhea. You may want to check into this

issue with a GI if you think it could be an issue. The docs can run a

gastric emptying scan to find out if your child has too quick or too slow of

gastro emptying.

Darla: mommy to

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

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

Zipporrah (11 mon.) Mito, strokes, SID, GERD, 100% G-tube fed, asthma, trach

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

dumping syndrome...

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

Marquis (2) (some with Mito symptoms)

Re: Mito / dwarfism any others effected

> Hi

> The hearing indeed could be inherited from the mom, which is one of

> the reasons Mito is presumed. Her 2 sisters also have hearing

> problems but as far as I know thats as far back as it goes...her

> mothers family seems fine. We are still in the preliminary stage of

> diagnosis although all results received point to a Mito problemm.

>

> His major symptoms apart from the short arms and legs are:

> - Damage to the basal Ganglia and atrophy of the brain (common I

> believe in some Mito disorders.

> - Hypotonia, development delays, eye problems (Nystagmus)

> - uncontrolled body movements, arching of back / seizures?

> - periods of time where he doesn't seem to be with us ie not lucid

> - he also has a large head, low nose bridge and large front fontenel

> which could fall under dwarfism.

> - Also his hands had a pungent " sweaty feet " smell, which I believe

> is present in some forms of Mito.This only became prevalent when he

> went onto 2nd cereal foods. This was the same time we noticed the

> behavioural changes - hence the MRI. We have since decided(of our

> own accord)to take the cereal out of his diet as we were concerned

> of a possible inability to break down protiens (GA type 2). Since

> doing that the smell has gone away. We will wait until we get a

> definite diagnosis before reverting to cereal.

>

>

>

>

>

>

>

>

>

>

> >

> > Hi i am the proud parent of a mito baby that is g-tube fed that

> always is failure to thrive and small her body weight is the weight

> of a thirteen month old and she is as long as a 18 month old and she

> has the head circimfrance of a 20 month old and she is 29 months old

> but an absolute joy. has anyone suggested a muscle biopsy? could the

> hearing loss be from moms side? what else is affected? seizures?

> dysautonomia, etc.... have you seen a nuerologist? genetics doc?

> >

> > My 11 month old son has been provisionally diagnosed with a Mito

> > disorder. The actual type has not yet been identified. However

> > ongoing blood tests and the result from his last MRI according to

> > South African specialists " makes the likelihood that it is not a

> > Mito Disorder very unlikely. "

> >

> > At birth my son was diagnosed as a dwarf (short limbs larger head

> > normal trunk)but the actual type has and had baffled doctors as he

> > also has a severe hearing loss (responds well to hearing aids,

> > Nystagmus, hypotonia (at 11 months little head control and not

> > sitting) and developmental delays.

> >

> > The doctors became so focussed on trying to fit things into the

> > dwarfism category that they didn't look at the whole picture. They

> > eventually concluded that my son was a dwarf (type unknown -

> > atypical features - in that only his size was stunted but no other

> > features of dwarfism were present), that his hearing was inherited

> > from his mother who has a slight hearing loss and whose sisters

> all

> > have variable hearing losses. And that the Nystagmus and eye

> > problems

> > were probably developmental and would go away once the child has

> > matured - this because it didn't fit in under the dwarfism

> > category. To be honest though, they didn't like the multiple

> > diagnosis scenario but couldn't think of anything else.

> >

> > Recently we noticed severe behavioural changes including arching

> of

> > the back, uncontrolled bodily movements, and a general loss of

> > awareness. We had an MRI done where it was picked up that there

> were

> > significant changes in his brain structure (From an MRI done at 6

> > weeks)specifically in the areas, which require the most energy

> from

> > cells (Ganges? -I'm no doctor, I think that's the area). We've

> just

> > got back from a follow up with another neurologist who also

> confirms

> > the findings but mentions that according to him the Brain issues

> > were

> > present at the first MRI but just not as pronounced - I guess it's

> > easier to find when you are looking for it and not focussed in

> > trying to find dwarfism features.

> >

> > But any way, from his diagnoses he believes that he has a Mito

> > disorder and due to the effects on the brain and the stunted

> growth

> > that the disorder is severe.

> >

> > My questions are:

> >

> > 1. Does anyone know of a previous scenario where a Mito disorder

> > caused dwarfism or dwarf like features i.e. short arms and legs,

> > normal trunk and larger head? I know short stature is a feature

> but

> > from what I've read (internet)it is usually in proportion.

> >

> > 2. Would those in the now also agree with the likelihood of a Mito

> > Disorder and the possible severity of his.

> >

> > 3. Our doctors talk of Episodes ie the child is doing well has a

> > lapse where things go backwards...(hopefully) pulls out of it &

> gets

> > relatively better but sometimes never quite to the level they

> > originally were or could have been prior to that episode...and

> then

> > could have another episode ...and so on. Is this the way anyone

> else

> > would describe it...I don't see any mention of this type of

> > situation on any of the sites I've visited.

> >

> > Any help I'd appreciate it.

> >

> > Sorry for the long post.

> >

> >

> > Father Of Connor - the sweetest child

> >

> >

> >

> >

> > Please contact mito-owner with any problems or

> questions.

> >

> >

> >

[Guest guest]

Hi - My little girls symptoms are-

Failure to thrive

Short stature

lactic acidemia

lesion on right front lobe

g-tube fed

ketosis

devolpmental delays

hurts herself

vision problems

very low endurance

muscle pain

seizure-complex partial (arches her back - runs picks face strips etc.)

mini strokes

large head

fights sleep

feeding by mouth - minimal

still in diapers

lazy bowels

shallow breathing

halucinates

but, she is so very smart and when not crying or hurting her self very sweet!please forgive spelling so very tireddavidrich31843 wrote:

Hi The hearing indeed could be inherited from the mom, which is one of the reasons Mito is presumed. Her 2 sisters also have hearing problems but as far as I know thats as far back as it goes...her mothers family seems fine. We are still in the preliminary stage of diagnosis although all results received point to a Mito problemm.His major symptoms apart from the short arms and legs are:- Damage to the basal Ganglia and atrophy of the brain (common I believe in some Mito disorders.- Hypotonia, development delays, eye problems (Nystagmus)- uncontrolled body movements, arching of back / seizures?- periods of time where he doesn't seem to be with us ie not lucid- he also has a large head, low nose bridge and large front fontenel which could fall under dwarfism.- Also his hands had a pungent "sweaty feet" smell, which I

believe is present in some forms of Mito.This only became prevalent when he went onto 2nd cereal foods. This was the same time we noticed the behavioural changes - hence the MRI. We have since decided(of our own accord)to take the cereal out of his diet as we were concerned of a possible inability to break down protiens (GA type 2). Since doing that the smell has gone away. We will wait until we get a definite diagnosis before reverting to cereal.> > Hi i am the proud parent of a mito baby that is g-tube fed that always is failure to thrive and small her body weight is the weight of a thirteen month old and she is as long as a 18 month old and she has the head circimfrance of a 20 month old and she is 29 months old but an

absolute joy. has anyone suggested a muscle biopsy? could the hearing loss be from moms side? what else is affected? seizures? dysautonomia, etc.... have you seen a nuerologist? genetics doc?> > My 11 month old son has been provisionally diagnosed with a Mito > disorder. The actual type has not yet been identified. However > ongoing blood tests and the result from his last MRI according to > South African specialists "makes the likelihood that it is not a > Mito Disorder very unlikely." > > At birth my son was diagnosed as a dwarf (short limbs larger head > normal trunk)but the actual type has and had baffled doctors as he > also has a severe hearing loss (responds well to hearing aids, > Nystagmus, hypotonia (at 11 months little head control and not > sitting) and developmental delays. > > The doctors became so focussed on trying to fit things into the > dwarfism

category that they didn't look at the whole picture. They > eventually concluded that my son was a dwarf (type unknown - > atypical features - in that only his size was stunted but no other > features of dwarfism were present), that his hearing was inherited > from his mother who has a slight hearing loss and whose sisters all > have variable hearing losses. And that the Nystagmus and eye > problems > were probably developmental and would go away once the child has > matured - this because it didn't fit in under the dwarfism > category. To be honest though, they didn't like the multiple > diagnosis scenario but couldn't think of anything else.> > Recently we noticed severe behavioural changes including arching of > the back, uncontrolled bodily movements, and a general loss of > awareness. We had an MRI done where it was picked up that there were > significant changes

in his brain structure (From an MRI done at 6 > weeks)specifically in the areas, which require the most energy from > cells (Ganges? -I'm no doctor, I think that's the area). We've just > got back from a follow up with another neurologist who also confirms > the findings but mentions that according to him the Brain issues > were > present at the first MRI but just not as pronounced - I guess it's > easier to find when you are looking for it and not focussed in > trying to find dwarfism features. > > But any way, from his diagnoses he believes that he has a Mito > disorder and due to the effects on the brain and the stunted growth > that the disorder is severe.> > My questions are:> > 1. Does anyone know of a previous scenario where a Mito disorder > caused dwarfism or dwarf like features i.e. short arms and legs, > normal trunk and larger

head? I know short stature is a feature but > from what I've read (internet)it is usually in proportion.> > 2. Would those in the now also agree with the likelihood of a Mito > Disorder and the possible severity of his.> > 3. Our doctors talk of Episodes ie the child is doing well has a > lapse where things go backwards...(hopefully) pulls out of it & gets > relatively better but sometimes never quite to the level they > originally were or could have been prior to that episode...and then > could have another episode ...and so on. Is this the way anyone else > would describe it...I don't see any mention of this type of > situation on any of the sites I've visited.> > Any help I'd appreciate it.> > Sorry for the long post.> > > Father Of Connor - the sweetest child> > > > > Please contact

mito-owner with any problems or questions. > > >