8 month old son with a probable mitochondrial disease.

[Guest guest]

Hi,

I will introduce myself and my family and give a brief history. It is great

to find a list such as this to gain a greater understanding of these diseases

and their effects.

My wife (Sheelagh) and I (Graham) have the cutest baby boy (Owen). He's our

first and was born last May. After 4 months he developed a temperature and

we brought him to the pediatrician. It was then that something amiss was

noted. He had very low body tone and his eyes could not focus - they rolled

and vibrated. To this day, Owen cannot see well and wears glasses. He also

cannot hold up his head well. But he can roll from his belly to his back.

He can also stand on his feet and take his weight. However, in comparison to

other babies his age and younger he is well behind. The funny thing is that

as it was our first we thought everything was OK! We realise now that it is

not.

After many tests - MRI, CAT Scans, Blood etc. in San Francisco nothing was

detected except for high levels of lactic acid and pyruvates. Finally we

were sent to Stanford Medical Center for them to have a look. We talked

with their genetics folks. They felt it was a metabolic or mitochondrial

problem and wanted a muscle biopsy done. The choice was San Diego, Atlanta

or Newcastle Royal Infirmary in England. We are both Irish and were going

home over Christmas and the New Year and so opted for Newcastle -- they were

great. Both Doctors there are convinced that is likely a mitochondrial

disorder.

They did a muscle and skin biopsy as well as a lumber puncture. The lumber

puncture showed abnormal levels of lactic acid. The first tests on Complex 2

and 4 have been normal. We are waiting on the other results. I am very

practical and I have a feeling that it is this problem. Both of us are

hoping and praying that it is not. Sheelagh, doesn't quite comprehend the

seriousness of this form of disease as she is refusing to believe that Owen

may have the problem. She cries when we talk to the doctors but is fine

while we wait for results. I didn't cry until today. I was at lunch on my

own and just broke a few tears.

Once we get the diagnosis, I know that Sheelagh and I will come to terms

quickly with the implications. We have great support here but it is great to

find a list like this with people who have already gone through the mill.

The hardest thing I think we will deal with is the uncertainty - What is the

prognosis? Will he live? If so, for how long? What kind of a life will it be

for him?

Anyway, I've talked enough. I'll be in contact soon.

Regards,

Graham.