Hi/New here/long intro

[Guest guest]

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)