re: Introduction - kinda long (sorry)

[Guest guest]

Hi -

Long introduction - I didn't try to rewrite it as I'd already posted it

on his caringbridge site (life is insanely busy as you know).

www.caringbridge.org/fl/asher

I don't know what I'd do without this mito group. You all have given

me such knowledge and strength and helped me find the joy that comes

from holding fast to your child and his joy just for this day. I am

indebted to you all.

Asher came into this world in February, 2001. Dark brown hair and a

long skinny body - looked like his dad. I called him my " string bean " .

Asher had difficulty feeding from the first day - I thought it was

simply both of our fatigue following labor but now I wonder if it

wasn't a marker of what was yet to come. He had difficulty feeding and

would cry after he began to nurse - we tried a lactation consultant etc

but nothing worked. Then, I found blood in Asher's bowel movements. The

GI we went to thought Asher had reflux and a possible allergy to milk.

Asher was put on formula and his cries lessened and he seemed more

happy. When I carried him, Asher molded himself to my body and I loved

how cuddly he was. I did not know then that this was because of his

poor muscle tone.

At 6 months of age, Asher was still having small amounts of blood in

his bowel movements so he had an endoscopy done that revealed gastritis

but nothing else. We continued to exclude milk from his diet. Asher

seemed to be developing well - he spoke his first words ( " quack " and

" duck " ) at the age of 7 months. He was a bit slow in terms of motor

milestones, but, then, I was a bit late as a baby too. At the age of 9

months, our pediatrician because concerned because Asher was not

crawling and could not get from a lying down position to sitting up. We

went to a developmental eval through the EIP program and found that

Asher was 3 standard deviations below the norm. I was shocked! Glad he

qualified for physical therapy but I did not expect that he would be so

far below the norm. The only diagnosis that Asher received was " benign

congenital hypotonia " . I have come to hate that diagnosis as it

provided no hint at what was going on with my son and it was certainly

not " benign " . Thus began doctors' apointments and tests as we tried to

find out what was causing our son's muscular difficulties. Most tests

came back normal except for a consistently elevated pyruvate level that

has since been attributed to a lab error.

Asher responded very well to pt and, within, a month he crawled his

first few feet into my lap. How I cried with happiness. Asher continued

3x a week pt and, by the age of 17 months, he was walking. We had,

however, noticed some other unusual aspects of his development. Asher's

speech and language development did not develop as quickly as expected

given his early acquisition of words. In fact, at the age of 18 months,

Asher " lost " words. He no longer used words that he had previously

acquired. We later realized that he had had a virus at the time that

his expressive speech became delayed. Speech therapy was started

because of the unusually large gap between Ash's expressive and

receptive language abilities. Again, Asher made impressive strides with

speech and eventually caught up and surpassed his age level in language

abilities.

Throughout this, Asher was a happy and very social little boy. He was

and continues to be quite engaging, warm, and silly.

Throughout his first few years, we saw various doctors to try to find a

diagnosis. No one was able to pinpoint what was going on with my son.

Many felt that the abnormalities were simply " mild " , that he would grow

out of them, and that, I, his mother, worried too much. In May of 2003,

I was told by a well respected geneticist that Asherw as going to be

fine. In fact, I almost didn't keep the appointment with the

geneticist, because I, too, felt that Ash was okay. So, the geneticist

told me to go home and enjoy my child and plan for the future as you

would plan the future of any child. I did. We had a beautiful summer. I

felt such joy at seeing Asher's progress and 'knowing' that he only had

a few " idiosyncrasies " in his health like muscle fatigue, hypotonia,

hyporeflexes and that these would resolve with time. I no longer was

frightened for my child. Sure, I worried, but I worried about choosing

the right preschool, etc. I did not worry about whether he would die.

The fall of '03 came. Asher started preschool. He was sad to leave me

but happy and giggling when I picked him up. Then the phone calls

started. Asher's teacher was concerned because he would not play on the

playground and he seemed tired. The physical therapist noted that he

had stopped making progress. Asher's weight began to drop. He wouldn't

eat even things like the chocolate he loved. The doctors didn't know

why. I made trips to the ER as Asher became emaciated with a swollen

belly. At that point, I met with our neurologist and said I wanted

Asher to have muscle biopsy because we needed to know what was going

on. I had read and contacted a number of specialists as well as mothers

of kids with myopathies to know that we might be dealing with some type

of congenital myopathy and a slight possibility that it was

mitochondrial disorder. The neurologist tried to dissuade us of going

ahead with the biopsy because he didn't think it was necessary at the

time. A geneticist told us " I don't think you will find out much... you

know, you really better hope it's not mitochondrial disease " . Of

course, I hoped it wasn't. I didn't think it was. I thought he had a

congenital myopathy. We read and read about who to go to for the biopsy

- we knew that fresh muscle biopsies were important if we were trying

to rule out mito, so we chose Dr. Shoffner in Atlanta - one 3 centers

in the country who do that type of biopsy and we made an appointment

for January.

By December, my husband and I watched as Asher began to fall

repeatedly. He could no longer climb into his car seat. We held him

when he fell asleep in the mid-afternoon telling us he was " too tired " .

I fell asleep at night wondering if Asher would be with us inthe

morning and, God forbid, how our family would cope if he wasn't. He had

another bowel biopsy that came back with only mild imflammation.

Asher's urine organic acids and amino acids came back wildly abnormal

but the drs said " it doesn't fit a clear pattern, so it's probably

normal " . In January, we flew to Atlanta where Asher's muscle and skin

were biopsied, his urine and blood and CSF tested. In March, Asher had

a feeding tube placed because he could no longer eat due to severe GI

dysmotility. The GI dysmotility makes it difficult for Asher to eat and

impossible for him to have a bm without a suppository or enema. In May

'03, the biopsy results came back. Asher's lactic acid was elevated and

the enzyme analysis of the muscle showed that Asher had a mitochondrial

disease, Complex III defect and possible Complex I defect. We started

him on the " mito cocktail " of vitamins - COQ10, carnitor, E, C, B1, B2,

K and added a Boston mitochondrial expert, Dr. Korson as our " chief " of

Asher's case.

The added nutrition through the mickey button on his tummy helped him

gain strength and endurance. Asher began hippotherapy (p.t. on

horseback) and loved it and did awesome. He now looks totally " normal "

to the untrained eye and can ride his bike with training wheels,

dribble a basketball, and tease his brother mercilessly!

Asher is now 4. He had a great fall and Christmas, but, since

Christmas, has had a number of viruses and infections. One led to a

hospitalization. In addition, he's had testing that shows severe

abdominal distension coupled with some GI dysmotility.He had a

cecostomy tube placed in March this year and it's working - so he no

longer has to have enemas/suppositories. But, he hasn't yet recovered

from the surgery in full - we've seen a loss in strength and endurance.

Don't know if he will get these back or not.

Although Asher's short life and has been difficult, he is a very happy

and loving little boy. Full of goofiness and dancing and life. He is

quite the flirt - calling the girls at preschool " beautiful princesses " .

Thank you,

Anne R

[Guest guest]

Anne,

I felt like I was reading part of Sophie's story as I read what you had written about Asher. So many times I too was told tha I worried too much, that she would out grow things, it was just hypotonia nothing else is wrong. This all while she was admitted to the hospital 8 different times, was getting weekly PT, OT and ST and having some really abnormal labs come back. I've always found it annoying how when the docs don't know what's wrong they say that the bloodwork was drawn or run wrong. Why can't they ever just admit that they don't know something.

The best saying I have ever seen is actually hanging in my (new special needs) pediatricians office. It says:

While a mother's worry may sometimes be unwarranted, it should never be ignored!

Meagan, Mom to Sophia (11 months)

www.caringbridge.org/ky/sophiesong__________________________________________________

[Guest guest]

Anne,

I felt like I was reading part of Sophie's story as I read what you had written about Asher. So many times I too was told tha I worried too much, that she would out grow things, it was just hypotonia nothing else is wrong. This all while she was admitted to the hospital 8 different times, was getting weekly PT, OT and ST and having some really abnormal labs come back. I've always found it annoying how when the docs don't know what's wrong they say that the bloodwork was drawn or run wrong. Why can't they ever just admit that they don't know something.

The best saying I have ever seen is actually hanging in my (new special needs) pediatricians office. It says:

While a mother's worry may sometimes be unwarranted, it should never be ignored!

Meagan, Mom to Sophia (11 months)

www.caringbridge.org/ky/sophiesong__________________________________________________

[Guest guest]

Meagan,

That is an excellent saying!

Anne R

Re: re: Introduction - kinda long (sorry)

Anne,

I felt like I was reading part of Sophie's story as I read what you

had written about Asher. So many times I too was told tha I worried too

much, that she would out grow things, it was just hypotonia nothing

else is wrong. This all while she was admitted to the hospital 8

different times, was getting weekly PT, OT and ST and having some

really abnormal labs come back. I've always found it annoying how when

the docs don't know what's wrong they say that the bloodwork was drawn

or run wrong. Why can't they ever just admit that they don't know

something.

The best saying I have ever seen is actually hanging in my (new

special needs) pediatricians office. It says:

While a mother's worry may sometimes be unwarranted, it should never

be ignored!

[image removed] Meagan, Mom to Sophia (11 months)

www.caringbridge.org/ky/sophiesong

__________________________________________________

[Guest guest]

thank you for sharing this Anne. Your story of Asher is very

touching.

le and 2yo Lea, partial complex I

> Hi -

>

> Long introduction - I didn't try to rewrite it as I'd already

posted it

> on his caringbridge site (life is insanely busy as you know).

> www.caringbridge.org/fl/asher

>

> I don't know what I'd do without this mito group. You all have

given

> me such knowledge and strength and helped me find the joy that

comes

> from holding fast to your child and his joy just for this day. I

am

> indebted to you all.

>

> Asher came into this world in February, 2001. Dark brown hair and

a

> long skinny body - looked like his dad. I called him my " string

bean " .

> Asher had difficulty feeding from the first day - I thought it was

> simply both of our fatigue following labor but now I wonder if it

> wasn't a marker of what was yet to come. He had difficulty feeding

and

> would cry after he began to nurse - we tried a lactation

consultant etc

> but nothing worked. Then, I found blood in Asher's bowel

movements. The

> GI we went to thought Asher had reflux and a possible allergy to

milk.

> Asher was put on formula and his cries lessened and he seemed more

> happy. When I carried him, Asher molded himself to my body and I

loved

> how cuddly he was. I did not know then that this was because of

his

> poor muscle tone.

>

> At 6 months of age, Asher was still having small amounts of blood

in

> his bowel movements so he had an endoscopy done that revealed

gastritis

> but nothing else. We continued to exclude milk from his diet.

Asher

> seemed to be developing well - he spoke his first words ( " quack "

and

> " duck " ) at the age of 7 months. He was a bit slow in terms of

motor

> milestones, but, then, I was a bit late as a baby too. At the age

of 9

> months, our pediatrician because concerned because Asher was not

> crawling and could not get from a lying down position to sitting

up. We

> went to a developmental eval through the EIP program and found

that

> Asher was 3 standard deviations below the norm. I was shocked!

Glad he

> qualified for physical therapy but I did not expect that he would

be so

> far below the norm. The only diagnosis that Asher received

was " benign

> congenital hypotonia " . I have come to hate that diagnosis as it

> provided no hint at what was going on with my son and it was

certainly

> not " benign " . Thus began doctors' apointments and tests as we

tried to

> find out what was causing our son's muscular difficulties. Most

tests

> came back normal except for a consistently elevated pyruvate level

that

> has since been attributed to a lab error.

>

> Asher responded very well to pt and, within, a month he crawled

his

> first few feet into my lap. How I cried with happiness. Asher

continued

> 3x a week pt and, by the age of 17 months, he was walking. We had,

> however, noticed some other unusual aspects of his development.

Asher's

> speech and language development did not develop as quickly as

expected

> given his early acquisition of words. In fact, at the age of 18

months,

> Asher " lost " words. He no longer used words that he had previously

> acquired. We later realized that he had had a virus at the time

that

> his expressive speech became delayed. Speech therapy was started

> because of the unusually large gap between Ash's expressive and

> receptive language abilities. Again, Asher made impressive strides

with

> speech and eventually caught up and surpassed his age level in

language

> abilities.

>

> Throughout this, Asher was a happy and very social little boy. He

was

> and continues to be quite engaging, warm, and silly.

>

> Throughout his first few years, we saw various doctors to try to

find a

> diagnosis. No one was able to pinpoint what was going on with my

son.

> Many felt that the abnormalities were simply " mild " , that he would

grow

> out of them, and that, I, his mother, worried too much. In May of

2003,

> I was told by a well respected geneticist that Asherw as going to

be

> fine. In fact, I almost didn't keep the appointment with the

> geneticist, because I, too, felt that Ash was okay. So, the

geneticist

> told me to go home and enjoy my child and plan for the future as

you

> would plan the future of any child. I did. We had a beautiful

summer. I

> felt such joy at seeing Asher's progress and 'knowing' that he

only had

> a few " idiosyncrasies " in his health like muscle fatigue,

hypotonia,

> hyporeflexes and that these would resolve with time. I no longer

was

> frightened for my child. Sure, I worried, but I worried about

choosing

> the right preschool, etc. I did not worry about whether he would

die.

>

> The fall of '03 came. Asher started preschool. He was sad to leave

me

> but happy and giggling when I picked him up. Then the phone calls

> started. Asher's teacher was concerned because he would not play

on the

> playground and he seemed tired. The physical therapist noted that

he

> had stopped making progress. Asher's weight began to drop. He

wouldn't

> eat even things like the chocolate he loved. The doctors didn't

know

> why. I made trips to the ER as Asher became emaciated with a

swollen

> belly. At that point, I met with our neurologist and said I wanted

> Asher to have muscle biopsy because we needed to know what was

going

> on. I had read and contacted a number of specialists as well as

mothers

> of kids with myopathies to know that we might be dealing with some

type

> of congenital myopathy and a slight possibility that it was

> mitochondrial disorder. The neurologist tried to dissuade us of

going

> ahead with the biopsy because he didn't think it was necessary at

the

> time. A geneticist told us " I don't think you will find out

much... you

> know, you really better hope it's not mitochondrial disease " . Of

> course, I hoped it wasn't. I didn't think it was. I thought he had

a

> congenital myopathy. We read and read about who to go to for the

biopsy

> - we knew that fresh muscle biopsies were important if we were

trying

> to rule out mito, so we chose Dr. Shoffner in Atlanta - one 3

centers

> in the country who do that type of biopsy and we made an

appointment

> for January.

>

> By December, my husband and I watched as Asher began to fall

> repeatedly. He could no longer climb into his car seat. We held

him

> when he fell asleep in the mid-afternoon telling us he was " too

tired " .

> I fell asleep at night wondering if Asher would be with us inthe

> morning and, God forbid, how our family would cope if he wasn't.

He had

> another bowel biopsy that came back with only mild imflammation.

> Asher's urine organic acids and amino acids came back wildly

abnormal

> but the drs said " it doesn't fit a clear pattern, so it's probably

> normal " . In January, we flew to Atlanta where Asher's muscle and

skin

> were biopsied, his urine and blood and CSF tested. In March, Asher

had

> a feeding tube placed because he could no longer eat due to severe

GI

> dysmotility. The GI dysmotility makes it difficult for Asher to

eat and

> impossible for him to have a bm without a suppository or enema. In

May

> '03, the biopsy results came back. Asher's lactic acid was

elevated and

> the enzyme analysis of the muscle showed that Asher had a

mitochondrial

> disease, Complex III defect and possible Complex I defect. We

started

> him on the " mito cocktail " of vitamins - COQ10, carnitor, E, C,

B1, B2,

> K and added a Boston mitochondrial expert, Dr. Korson as

our " chief " of

> Asher's case.

>

> The added nutrition through the mickey button on his tummy helped

him

> gain strength and endurance. Asher began hippotherapy (p.t. on

> horseback) and loved it and did awesome. He now looks

totally " normal "

> to the untrained eye and can ride his bike with training wheels,

> dribble a basketball, and tease his brother mercilessly!

>

> Asher is now 4. He had a great fall and Christmas, but, since

> Christmas, has had a number of viruses and infections. One led to

a

> hospitalization. In addition, he's had testing that shows severe

> abdominal distension coupled with some GI dysmotility.He had a

> cecostomy tube placed in March this year and it's working - so he

no

> longer has to have enemas/suppositories. But, he hasn't yet

recovered

> from the surgery in full - we've seen a loss in strength and

endurance.

> Don't know if he will get these back or not.

>

> Although Asher's short life and has been difficult, he is a very

happy

> and loving little boy. Full of goofiness and dancing and life. He

is

> quite the flirt - calling the girls at preschool " beautiful

princesses " .

>

> Thank you,

> Anne R