I think it is really difficult for us to give advice on this. As far
as I know, the treatment really wouldn't change with a definitive
diagnosis. I can really see it both ways... Based on the info you
provided, then it really sounds like she does have mito. Personally,
I don't know what I would do. I think I would hold off on the bx for
now and just hang with the probable mito dx. The sibling history is
so strong and her symptoms are prominent enough to feel pretty secure
in that dx. It would save her having to go through a surgery and
avoid the dreaded anesthsia. As long as your docs are ready to treat
her as if she has a definitve diagnosis then I would hold off. If
any of the docs refused to treat her like a mito child because there
was no definite diagnosis, then I would get the bx.

This is just my personal opinion. Good luck making your own final
decision and please keep us updated.

Joni K
mom to Caleb 3yrs
complex I, III and lipid storage defect
www.caringbridge.org/visit/calebryankelso

--- In Mito@yahoogroups.com, Kass <kass@...> wrote:
>
> Hi Erica :-)
>
> You have your hands full and I am sorry your seeing issues in
Melissa, and
> are left with having to ask this question.
>
> Personally, Iąd want to know if there is anything more than an
academic
> reason to biopsy Melissa. In other words, is there anything more
than
> confirming the diagnosis that would come of the procedure.
>
> Then it becomes a decision you and your dh need to make based on
your level
> of łneed to know˛. The other option might be to go with the
assumed dx for
> right now and wait till Melissa is older and can make the decision
for
> herself. I think it all depends on how unsure you all are about
this.
>
> It seems like a safe bet that Melissa is affected, but if the not
knowing
> for sure will have an adverse affect on her or you all, getting the
> definitive proof might be important right now. Next question
though would
> be what if Melissaąs biopsy does not show mito.....doesnąt mean she
doesnąt
> have it too, but could affect her care perhaps. All depends on
your doctors
> and your the only one that can judge what would happen with that.
>
> Ugh.....we debate this here on a regular basis (we have an
unspecified dx
> and have thus far chosen not to biopsy again). I can tell you that
for us,
> weąd only biopsy one and it would have to be enough to cover
everyone. But
> it is a very personal decision and I am just sorry your having to
consider
> it.
>
> --
> BIG hugs,
> Kass, proud mom to Chance(14-Mito), Madison(11-Mito), and Abigail
(10-Mito)
> http://www.caringbridge.org/tx/mcnairs
> "Life is not measured by the breaths we take, but by the moments
that take
> our breath away." -Unknown
>
>
>
> On 3/31/08 6:37 PM, "beyeafamily" <debeyea@...> wrote:
>
> > I have a two part question. I have two already dx'd mito kiddos,
and
> > a third that looks suspiciously like she has mito. In fact, we
have
> > seen several Neuro's (trying to get headaches under control) and
one
> > has already given her a mito dx based on symptoms and family
> > history.
> >
> > She has had labs done that are flagged for mito (high lactate
(yes,
> > it was done properly), low Carnitine, extremely low CoQ10, and low
> > glucose among other things) Her labs are nearly identical to her
> > sisters. Clinically, her symptoms are nearly identical to my 10 yr
> > old, with the leg pain, fatigue, headaches, delayed gastric
> > emptying, pulmo stuff, etc.
> >
> > So.... first question: We are split down the middle on her
> > specialists - half think she should get a muscle bx done to
confirm
> > the dx, while the other half says labs, symptoms and family
history
> > are enough for a dx. We don't know what to do. We of course, want
to
> > agree with not doing a biopsy and putting her through that, but
want
> > what's best.
> >
> > Second question: Based on her labs, the sister's Mito doc has
> > already started her on CoQ10 and will start Carnitine after our
next
> > appt. If she is already on these supplements, will that change the
> > outcome of a muscle biopsy? Would it affect the ETC complexes and
> > how they are measured in the testing?
> >
> > One thing I don't want to do is go ahead and do a muscle biopsy
and
> > have it be inconclusive.
> >
> > If it matters, sisters both have defects in Complexes III and IV.
> >
> > We really need to think through this, and come up with a definite
> > opinion one way or another, because a lot of docs that we really
> > respect are throwing their opinions into the ring, and we don't
know
> > what to do.
> >
> > Any thoughts or opinions are welcome.
> >
> > Thanks!
> >
> > Erica - Mom to my "Little Women":
> >
> > Heather, (12) Wants to be a doctor to help her sisters.
> >
> > Laura (10) Mitochondrial Myopathy, Eosinophilic Gastroenteropathy,
> > multiple food and environmental allergies, Asthma, Recurrent c-
diff
> > infections. Elecare via g-tube and eating only apples, bananas,
> > maple syrup, rice, and dum-dums. Allergy shots for EA's.
> > Trialing LETTUCE!
> >
> > Melissa (6) EA's, asthma, migraines, probable mito
> >
> > Kelly (2) Mitochondrial Myopathy, Cardiac Atrial Septil Defect,
> > Active colitis treated with steroids, Immune Dysregulation,
Asthma,
> > Neocate Jr. and eating only carrots and rice. Allergic to all
> > antibiotics she has tried so far. G-tube re-scheduled for May 12.
> >
> > Dad – David, who is greatly outnumbered…
> >
> > Western New York (Buffalo area)
> > www.caringbridge.org/visit/beyea
>