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Hi Laurie,

What are your son's CBC values like with Thallesmia? We were told quite some

time ago that had Thallesmia B Minor. Her CBC is doing " funny " things

again and it's making me wonder..... Plus, she has been bleeding so it is

really hard to know.

Laurie Fitzgerald laurie.fitzgerald@...> wrote:

If you have had one negative biopsy, then I would suggest going for a

fresh one. Are they doing them in Pittsburgh? I guess I might see the

genetics doctor at some point, but not have another frozen biopsy.

That is just my opinion based on my experience.

My son has had several surgeries to address the lax joints, but now

that he has a diagnosis, he is just more careful - getting older and

not doing foolish things as teens to has helped. Considering that he

has mito, Euler Danlos and is a carrier for Thallesmia, he is doing

well.

laurie

> Laurie,

>

> Thanks so much for your response. I do remember that it took you a

> fresh biopsy and everything that you went through to get dx'ed and I

> try to remember that. Please know that your experience does help

> people like me. Fresh vs Frozen was definitely proven in your

> case. I did not realize that it was 15 years!! Thanks for the

> reminder.

>

> Which would you think would be the best option: go to Cleveland

> Clinic or see the chief of genetics locally in Pittsburgh?? I have

> to admit that I do not fully understand ALL the genetics part and if

> the genetics dr. is also a dr that follows through with the

> treatment...etc.

>

> Sorry to hear about your son. My daughter does get bruising and

> scarring very easily, but does not have the stretchy skin. She had

> seen a ped. neurologist about 5 yrs. ago, but got the USUAL neuro

> exam and everything was fine. She was complaining about going up

> steps...sounded like weakness that she was describing in child's

> terms.

>

>

>

> Shayna,

>

> Thanks for your post...I have read alot of yours and now know what

> to look for in my biopsy report to make sure that he ordered

> everything.

>

> Good Luck with your biopsy and testing. I have learned alot through

> your postings and questions.

>

>

>

>

>

>

> > > >

> > > > ,

> > > >

> > > > Glad you got your report. But where did you read abundent

> needed

> > > as far as ragged red fibers by a mito doc paper. I cannot

> remember

> > > where I saw it besides on this list--maybe the UMDF site with Dr

> > > Cohen papers that ragged red fibers are not in all cases. In my

> > > sisters I know there were not any on her biopsy because after I

> > > found these lists and the UMDF website I asked the doc. Just

> > > curious.

> > > > Janet

> > > > Re: New to the group....again---MRI

> > > SPECTROSKY... RESULTS ARE IN

> > > >

> > > >

> > > > Janet, I am so sorry to hear about your sister!!

> > > >

> > > > Thanks to encouragement I did obtain my MRI,MRA,MRS

> report. I

> > > don't

> > > > think it really says much in helping me in my search for an

> > > answer,

> > > > actually THINK it disproves mito, but who knows...possibly

> if

> > > offers

> > > > clues. The Impression reads:

> > > >

> > > > Presence of tiny 1.5 mm nonspecific subcortical white

> matter in

> > > left

> > > > frontal region. Diffuse narrowing of intra and extracranial

> > > carotid

> > > > and vertebrobasilar arteries seen secondary to global

> vasospasms

> > > > from repeated episodes of migraine along with decrease in

> NAA,

> > > > Creatine and Choline peaks. Similar MRA/MRS findings are

> also

> > > seen

> > > > in patients suffering from chronic migraine. No evidence of

> > > > demyelinating disease is seen.

> > > >

> > > > Report states NO increase in lipid, lactate or mI peaks is

> seen.

> > > >

> > > > My family dr. feels that I have been having migraines (I

> feel

> > > they

> > > > are not even severe, just mild headaches) she prescribed

> Topamax

> > > and

> > > > warned it can make me tired (more tired). I have been

> taking it

> > > for

> > > > about 3 weeks and it has helped with the headaches and I

> don't

> > > see a

> > > > difference with fatigue. However, I can only take one 25

> mg a

> > > day

> > > > because if I increase the dose, like suggested, the side

> effects

> > > of

> > > > memory and concentration become a problem.

> > > >

> > > > I am in the process of obtaining the biopsy report. It had

> to

> > > be

> > > > sent to my current family dr or I would be charged,

> including a

> > > $17

> > > > retrieval fee, then per page fee. Hopefully I will get it

> next

> > > > week. The office had them copied, just waiting for the

> release

> > > to

> > > > the dr., not me. Faxed yesterday. HOWEVER, I did just read

> > > someone

> > > > in a paper by mito dr's that ragged red fibers....abundant

> > > amount

> > > > needed. Guess 2 aren't abundant.

> > > >

> > > > Hopefully you too will get motivated to get your

> records...my

> > > biopsy

> > > > was done in May 2002!!

> > > >

> > > >

> > > >

> > > >

> > > >

> > > >

> > > >

> > > >

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