Re: Re: Hi/New here/long intro

[Guest guest]

Forgive me for the delay, but wanted to say THANK YOU for all your responses

to our introduction!!! I am sincerely looking forward to getting to know

you all better, and to LEARN from you.

Your comments on the Enbrel were comforting, and while I am still a nervous

wreck thinking about the possibility, I am a little more at ease now thanks

to you all.

I do have a question......but will make that a separate post. Just wanted

to say THANKS!!

BIG hugs,

, proud mom to Chance(17-Mito), Madison(14-Mito/JIA), and

Abigail(12-Mito)

http://www.ourexceptionallife.blogspot.com

On 1/1/11 9:35 PM, " P " <jobobperry@...> wrote:

> Hi ,

>

> I am so sorry to hear of Madison's situation. My daughter Rose has quite a

> few health problems too, but not anything to compare with Madison's. I can

> relate to the fatigue, as my daughter has liver issues, but it does not sound

> half as severe as Madison's. Hope you find the support you need here.

>

> Jo

>

>> >

>>> > >

>>> > > Hi All,

>>> > >

>>> > > While I wish I didn¹t have a need to be here, I am relieved to find a

>>> list

>>> > > where I can learn more about my daughter¹s JIA. I am looking forward

to

>>> > > getting to know everyone and thank you in advance for reading our story.

>>> > >

>>> > > My name is and I am the proud mom to three amazing

>>> kiddo¹s....Chance

>>> > > is 17, Abigail is about to turn 13, and Madison is 14 (and the reason I

am

>>> > > here). All three kids have a Mitochondrial Disease (Mito for short) >>>

that

>>> > > affects virtually every organ system. For those that don¹t know, a >>>

brief

>>> > > explanation of mito.....we have mitochondria in all of our cells except

for

>>> > > our red blood cells. Within the mitochondria, the food we eat & oxygen

>>> that

>>> > > we breath is converted into a chemical the cells can use for energy.

>>> When

>>> > > there is a disease of the mitochondria, not enough energy is able to be

>>> > > produced and this can cause problems with function in every system of

the

>>> > > body. While not always the course, in our case it has been progressive

and

>>> > > degenerative and the kids have dealt with more and more medical issues

as

>>> > > the years have gone by. The kids were given a ³Presumed² Mito dx in

>>> 2001 at

>>> > > the Cleveland Clinic where we received care for a couple of years, then

>>> were

>>> > > taken care of by a doctor at the Mayo Clinic in Minnesota for a couple

of

>>> > > years, and have been receiving mito specific care in Houston now since

the

>>> > > beginning of 2008 where we were finally able to confirm their

>>> mitochondrial

>>> > > disease via genetics. I have been married to my DH for 22 years, and we

>>> > > have lived in the Dallas area the entire time. The kids currently have

a

>>> > > specialist in almost every specialty, with some in Dallas, some in Ft.

>>> > > Worth, and some in Houston.

>>> > >

>>> > > Miss Madison brings me to this group. In August of 2008 she mentioned

>>> that

>>> > > the joint below her big toe on one foot was hurting her. Generally

>>> > > speaking, due to extensive neuropathy, even when injured there are few

(if

>>> > > any) complaints about pain in that area of her body, so I took note.

>>> Upon

>>> > > looking at the joint it actually looked as though she might have

>>> dislocated

>>> > > it and while there was swelling, there was no bruising and she had no

>>> > > knowledge of having injured it. I took her to urgent care for an xray,

>>> > > thinking it was something simple, and while they were able to tell me

>>> that

>>> > > there was no dislocation or break which was good, they felt it looked

>>> like

>>> > > she had tendonitis. With that we did the usual routine for the care of

>>> > > tendonitis and I honestly didn¹t worry about it.

>>> > >

>>> > > A week or so later our pediatrician asked to see her to examine the foot

>>> > > herself. Upon exam she noted that there was still fluid on the joint,

as

>>> > > well as crepitus, and she felt there was something more going on. Upon

the

>>> > > advice of the orthopedic she was sending us to, we were sent for an xray

&

>>> > > sonogram of the joint. We saw the orthopedic and the primary concern

was

>>> > > that she might have Gout, but there was not enough fluid on the joint to

get

>>> > > a sample at that time, but we were sent for blood work to see what that

>>> > > might show us. Blood work indicated something inflammatory going on and

we

>>> > > were immediately referred to a rheumatologist.

>>> > >

>>> > > Thankfully we were able to see one quickly in Houston who has knowledge

of

>>> > > mitochondrial disease, something always important to the big picture.

>>> He¹s

>>> > > young and a new ³real² doctor, and while those are not always my

>>> favorites,

>>> > > in this case it was the perfect match. He had the time and was willing

to

>>> > > consult with all the other doctors he could find to try and figure my

>>> girl

>>> > > out.

>>> > >

>>> > > By December, Madison¹s left knee had become involved and there was

>>> little

>>> > > doubt we were dealing with arthritis. The problem was/is, there are no

>>> > > documented cases of arthritis in a mitochondrial disease kiddo. Lots

and

>>> > > lots of ³inflammatory² issues in the mom¹s and families, but not

>>> something

>>> > > seen in the kids dealing with this disease. With that we needed to be

>>> very

>>> > > sure there was not some other factor playing a part. An MRI was done of

the

>>> > > knee and the decision made to biopsy the synovium of the knee to be sure

>>> > > there was no infection lingering in there causing the problem. She

>>> > > tolerated the surgery well and other than inflammation, the synovial

>>> tissue

>>> > > was clear of infection.

>>> > >

>>> > > By September we had started on NSAID¹s, however, to further complicate

>>> > > things, Madison was not tolerating them without regular GI bleeding, and

>>> > > cannot take Tylenol for more than a week or two because the liver is >>>

very

>>> > > susceptible to problems due to the mito. This put us in a pickle as we

>>> > > tried to keep the pain of the arthritis under control. Once we had the

>>> > > biopsy done showing no infection, we had the choice to either do long

>>> acting

>>> > > steroid injections to the knee, or start her on weekly subcutaneous

>>> > > injections of Methotrexate. While our choice was to try the injections

to

>>> > > the knee, unfortunately the long acting steroid we needed to use was not

>>> > > available at the time, so we went ahead and started the Methotrexate.

>>> > >

>>> > > Within three weeks Madison was giving herself the injection weekly....so

>>> > > proud of her!!

>>> > >

>>> > > Unfortunately, the MTX caused a great deal of nausea that we really

>>> > > struggled to control. She was started on Folic Acid at the same time as

the

>>> > > mtx, and pretty quickly that dose was increased and we started playing

>>> with

>>> > > pre- & post- dosing with Zofran to try and control the nausea. For a

>>> little

>>> > > while pre-dosing with the Zofran, then taking it morning and night for

the

>>> > > following two days seemed to keep things in check (at least at a

>>> tolerable

>>> > > level). When that regime started to fail we added in Leucovor and

>>> Phenergan

>>> > > with some success. Ultimately, oddly enough, when she stopped eating

>>> meat

>>> > > (upon realizing that the nausea always got worse after a meal with meat)

we

>>> > > finally got some relief from the constant nausea for a little while. It

is

>>> > > not completely controlled, but tons better as long as she eats little or

no

>>> > > meat.

>>> > >

>>> > > Other than the nausea though, things seemed to be going pretty well.

>>> While

>>> > > her knee and toe joint remained somewhat swollen all the time, she was

not

>>> > > having pain and was moving as well as she ever has (due to the muscle

>>> > > component of her mito she has never been real active and usually uses a

>>> > > wheel chair for distance walking).

>>> > >

>>> > > However, in August her left knee re-flared and her right knee joined in

on

>>> > > the fun. :-(

>>> > >

>>> > > MTX was increased and we were then given the choice of either trying >>>

again

>>> > > for the steroid injections or Enbrel being added to the mix. After a

>>> lot of

>>> > > thought and confirming we could get the type of steroid our rheumy

>>> wanted,

>>> > > we decided to try the injections, although now it would be both knees at

the

>>> > > same time. The plan was to do the injections and keep her on the weekly

mtx

>>> > > and see how she does. If she can make it 6 months in between

>>> injections, we

>>> > > can stay with this plan, however if she breaks through before the 6 >>>

month

>>> > > mark our rheumy feels like we need to then consider the Enbrel. We did

the

>>> > > injections earlier this month and she tolerated them beautifully (one of

>>> > > those times when neuropathy is a GOOD thing)....and now we wait to see

>>> what

>>> > > happens.

>>> > >

>>> > > While the arthritis is being called JIA, the doctors do feel like this

is

>>> > > part of her mitochondrial disease, for what that matters.

>>> > >

>>> > > To complicate matters, she was already immune compromised before the

>>> > > arthritis revealed itself. We had been incredibly fortunate that none

of

>>> > > the three had really dealt with regular illness before January of 2008.

In

>>> > > part this was because they have been home schooled for so long, we are

>>> > > religious about hand washing and disinfecting, and we avoid sick people.

>>> > > With mito any illness, even a minor one, can cause significant decline

and

>>> > > even death, so keeping them healthy as much as possible has been a

>>> primary

>>> > > goal of care. And we had been really successful in this respect.

>>> > > Unfortunately Madison contracted both Mononucleosis and a Mycoplasma

>>> > > infection (walking pneumonia) at the same time in late 2007/early 2008.

>>> > > This would be a bad combo for anyone, but for her it really, really took

her

>>> > > downhill. Not only did we start having constant infections, but the

>>> stress

>>> > > on her system from the infections caused her to develop Dilated

>>> > > Cardiomyopathy & early Heart Failure, respiratory weakness (uses Bipap &

>>> > > oxygen at night), we had the first flare of her arthritis, and has

>>> caused

>>> > > profound fatigue that is ever present. She was already a low energy kid

in

>>> > > general, since early 2008, her energy level is virtually nonexistent. I

>>> > > have lost count of how many antibiotics she has been on in the last two

>>> > > years, and we are now ending up inpatient on a regular basis with high

>>> > > fevers, rigors, and blood pressures dropping to scary levels. And with

>>> > > another nose dive in energy a few weeks ago (just when I think she

>>> cannot

>>> > > get any more fatigued) we learned last week that she again has an acute

>>> > > Mycoplasma infection (walking pneumonia). And because the hits just

>>> keep on

>>> > > coming, she has now contracted the head cold her sister came down with 2

>>> > > weeks ago and has been teetering on the edge of needing to be inpatient

>>> > > again (our only saving grace is that she has a feeding tube and I am

>>> able to

>>> > > keep her hydrated through the tube).

>>> > >

>>> > > All this to say, adding Enbrel scares the heck out of me!!

>>> > >

>>> > > At the same time though, the feeling is that part of her continued

>>> issues

>>> > > with fatigue, even during a few months this last summer when we finally

had

>>> > > a reprieve from the constant infections, is due to a combination of the

>>> > > heart issues and the arthritis still being active. All we have ever >>>

known

>>> > > with Madison is as a fatigued child, however this level of fatigue she

is

>>> > > dealing with now is affecting her academically for the first time. >>>

After

>>> > > about an hour of school work she is simply shutting down cognitively and

if

>>> > > pushed she, a. cannot do the work, and b. is physically, emotionally and

>>> > > mentally so spent, nothing else can be planned for the day. We adjust

to

>>> > > ³new normal¹s² all the time, and some new normals are pretty crappy, but

>>> > > this is one that we are struggling with because it¹s impacting her

>>> quality

>>> > > of life.

>>> > >

>>> > > Well, I think I have likely shared more than anyone needed to know at

>>> this

>>> > > point!!! Madison is a fighter, in every sense of the word, and I could

not

>>> > > be more proud of the young lady she is. She wakes with a smile and

>>> > > generally keeps one on her face, even when she feels like crap. I am

>>> > > finally getting a little window of opportunity to try and learn more >>>

about

>>> > > this aspect of her care, and am looking forward to learning more from

you

>>> > > all. If nothing else, having somewhere to vent when she is having a bad

day

>>> > > would make a world of difference!!

>>> > >

>>> > > Thanks for reading if you have made it this far!!!

>>> > >

>>> > > BIG hugs,

>>> > > , proud mom to Chance(17-Mito), Madison(14-Mito/JIA) &

>>> > > Abigail(12-Mito)

>>> > >

>>> > >

>>> > >