Introduction

[Guest guest]

I am the mom to a 4 1/2 years old boy. My son was born prematurely

(33 weeks) and pretty sick (pneumonia, sepsis, etc.). He spend 53

days in NICU and was re-hospitalized at 4 months with RSV in PICU for

another 54 days. He was discharged on oxigen for 3 months. Given

his birth story and complications during his first months of life,

his pediatrician as well as his neurologist think that his

developmental delays and hearing loss are the result of this. He has

been diagnosed with extrapiramidal Cerebral Palsy since he does not

show the commonly CP symptoms of spasticity and seizure. Instead he

is hypotonic and has some choreoathetoid movements. This diagnosis

is not definite since his developmental pediatrician and geneticist

think that a metabolic disease might be involved.

Of all the metabolic and genetic tests done to my son the only one

that has come back with abnormal results has been the lactate blood

test and pyruvate blood test, therefore, his P/L ratio is way out of

range. This tests has been done three times and the results of the

three tests has not been normal although they have not been

consistent either. The first test results were High lactate, normal

pyruvate. The second one results were normal lactate, low pyruvate.

And the third test results done recently were high lactate, low

pyruvate. I have read a lot about this tests and how difficult it

is to have an true results given the fact that not all laboratories

personnel take the sample and manage it appropriately. The three

tests done to my son were on the same laboratory.

On our last appointment with the geneticist he order to repeat the

pyruvate and lactate tests (the third ones) and said that if the

results were not normal he would start my son in a diet and

supplements. Our next appoinment to bring in the results is in a

couple of weeks.

I have searched the net looking for information on these results but

so far there is not so much information regarding them

specifically. One thing I read was that high lactate leves is

a " hallmark " of mitochondrial disease. Hence I joined this group to

try and learn the most I can regarding mito disease and the possible

diagnosis of my son. I would greatly appreciate if anyone can shred

some light on the lactate/pyruvate levels and its relationship with

mito disease. Also would like to know if all mito diseases are

deadly sooner or later, I have read so many sad stories that right

now I am extremely worry about my son's future. Some of

the " symptoms " that my son shows that might fit a mito diagnosis

are his developmental delays, hypotonia, choreathetoid movements,

profound hearing loss, lung problems (chronic asthma), gerd. However

all those symptoms could also be related to his prematurity and

neonatal complications. He has always fed well and has not have

problems gaining weight ever. He has been improving over the years

with a lot of physical, occupational and speech therapy although his

progress has been painfully slow. He has never experienced a

regression on the skills acquired with therapy.

Regards,

Marie