- worsening disease

[Guest guest]

wrote:

>I guess the other thing is that I have NEVER heard of a

>person with mito who did not get worse. If there

>is someone out there like that, I want to hear about it.

,

I have three children that have been diagnosed with mito. My youngest

was biopsied at Emory University in the early 90's by Dr. Shoffner, and

diagnosed with Complex IV Deficiency. When the diagnosis was made, my

other two children were diagnosed and treated with Co Q because of their

symptoms and medical histories.

My oldest is probably the least affected. He is now 21 years old,

attends college locally and lives independently in his own apartment.

He has a pretty significant learning disability as well as ADD, but

takes medicine and is doing well. As an infant, however, he spent quite

a lot of time in the hospital and was failure to thrive, had severely

delayed gastric emptying and reflux. He was treated with diet/feeding

manipulation and medicines and he did improve. He is in his third year

of college and working toward a degree in Emergency Management

My second child, was born three years later, and at that time, we had no

idea what mitochondrial disease was. She was symptomatic from the

start, with apnea, severe GE reflux and delayed gastric emptying. She

spent a lot of the first three years in the hospital and eventually

required a Nissen fundoplycation, Pylorplasty, and gastrostomy feeding

tube placement. She continued to accumulate symptoms for her first few

years, including cardiac arrythmias, and severe autonomic issues. By

age 4 she developed seizures. At that time she was evaluated at several

major medical centers and was presumed to have a severe autonomic

dysfunction and was not expected to live thru early childhood because of

the cardiac issues. After her first neuro psych eval, we were told that

she would likely never speak, and would need an augmentative computer to

communicate. We were told that she would also most likely be mentally

challenged and require special education classes. She was actually

started in a special preschool here in our local Community Services

Center. She required a cardiac monitor until she was about 7 years old,

and eventually developed ptosis or droopy eyelids. She had low tone,

was poorly coordinated as well as ataxic a lot of the time. She was

only able to attend kindergarten part time, and for the first few years

of elementary school, she remained only a part time student, because

that was all that she could physically handle.

Now what you need to know is that when my youngest was diagnosed with

mitochondrial disease, there was no doubt in anyone's mind, that this

mysterious illness that my older children had, that seemed to affect

them so differently, was indeed mito as well.

What I'd like to share with you now, is that after shedding many a tear

over the fact that Genny would probably not make it thru Kindergarten,

nor go on to do the things that I had always dreamed of my children

doing, I am very proud to tell you how the story ended, or should I say

continued.......

Genny is now 18 years old, and she recently graduated number one in her

class - Valedictorian, with highest honors. She has been accepted into

the honors college on full scholarship, at an out of state university.

She was in the band for six years, made all state band her senior year,

and all region for the five years previous. She was editor of the

school yearbook and just recently was named Editor of the Year, by our

state scholastic press association (ASPA). She participated in the

History Day Competition at our school, and went on to become a National

Finalist in the National History Day Competition in Washington DC both

this year and last year. I could go on and on about her

accomplishments, as I am very proud of this young lady and all that she

has been thru and accomplished.

Yes she does still have some medical issues, and yes we've had to make

some accommodations for her physically. She has rarely been thru a

semester that we haven't had to get the ped to write an attendance

waiver. But overall, she has improved dramatically and proven all of

the predictions and prognosis WRONG! The same child that required years

of physical therapy in her early years, later became a member of the

junior high gymnastics team and Flag line. The same child, they said

would never speak, spends the majority of her free time on the phone.

She will always have mitochondrial disease, but some of her symptoms

have improved thru the years, and others are being treated. She has

accumulated a few more symptoms - mostly endocrine, but over all she is

healthy and more stable now, then she was 12 years ago. Not only did

she not get worse, but she did get better.

To look at her now, you'd never know what she went thru as a child, but

you only have to wait til she gets sick, to see her go into ketosis at

the drop of a hat, drop her blood sugar into the 30's and lose

consciousness. She doesn't tolerate heat very well, and has never made

it thru a marching band season with out a doctor's note to remove her

from the heat, and physical exertion. So the disease is still there,

and occasionally still rares it's ugly head. But she has learned how to

live with the disease and adapt, and it has really improved and gotten

better. It has definitely not gotten worse.

I can't tell you what happened, or why, only that she has improved over

the years......... and that all of her doctors were wrong about the

prognosis and progression.

And while we're on the topic, I should also tell you about my youngest

child. At one point she was so severely affected, and her symptoms had

worsened to the point that we began to discuss a DNR order for her

frequent hospitalizations. Her crashes and decompensations were severe

and landed her in ICU for weeks at a time. She has pituitary

dysfunction, that renders her adrenal glands, thyroid gland as well as

many others, worthless. She too has severe hypoglycemia, left

untreated. She goes into ketosis very easily, and has been hospitalized

for months at a time, with severe vascular headaches and stroke like

episodes. She required a feeding tube as well (but like Genny no longer

needs it), and had stomach surgery to help her stomach to empty. She

also has a severe and chronic neuropathy called CIDP, as well as

numerous lesions on MRI and an abnormal MRS. Mitochondrial disease has

touched virtually every organ system of her body, and her disease is

very complex.

But she too is more stable and has improved, rather than continued to

deteriorate. We have learned a lot about how to manage, or should I say

micro manage this disease, thru the years. We have treated her

aggressively and symptomatically, and while there have been many times

that we didn't think she would survive the current crisis, she has, and

she continues to fight.

She was basically a homebound student until this year. She visited the

classroom only one day a week until last year. She requires frequent

vital signs and monitoring of her fluids in and out. We check her blood

sugar thru out the day and watch for ketones, as well as give her

frequent snacks. She sleeps with oxygen and uses it with illness and

stress. But she also has gradually increased her attendance at school

and about 4 weeks ago started attending 5 days a week, almost all day.

She plays in the band, and just received an award for having all A's for

the past year. She has a nurse that attends school with her, but she is

so much more stable than she was 4 years ago, and she is a beautiful 12

year old girl. A twelve year old girl that we thought we'd never see.

She has not continued to accumulate symptoms over the past 6 years,

rather we have learned how to treat the symptoms that she does have and

improve her quality of life. We still take one day at a time, but we

have more hope for the future, than ever before.

With great hope for the future,

Jeannine