loveforjackmclean: Update

Thursday, June 7, 2012

Update

Jack is getting ready for summer vacation. He loves to swim. He has been taking lessons and swimming at grandma's.He still deals with pain weekly. Jack sees a pain management doctor. It has definitely helped some. The medication has made his tetney and pain decrease about 30%.

Jack disease is not in a down turn at this point so that is good. We take each day at a time. He still deals with his stomach issues among many other issues every day. We are just blessed that it is not a lot of the issues all at once at this time. Please keep Jack in your prayers. He has a Cleveland trip and specialist appointment coming up soon.

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About Jack

Jack McLean is a beautiful, kind spirited and loving 7 year old boy who
has been diagnosed with Confirmed Primary Mitochondrial Disease
Complex 2 & 3, which is one of the rarest combinations of Mitochondrial
Diseases. Due to the disease, Jack suffers from many physical problems,
including a lack of muscle development and continuous nerve pain.

Every part of Jack's body has been affected.
The smallest things that most of us take for granted
have become daily challenges for Jack. Because of
these physical challenges, Jack requires multiple daily
medications, physical, occupational, and speech
therapies, MRI's, and repetitive blood testing, muscle
biopsies, endoscopies and more on a regular basis.

The road ahead for Jack is a long one. Over his
lifetime, Jack will need to continually see a team of
specialists to monitor all of his internal organs, in
addition to his current physicians that monitor his
ongoing physical problems. There will always be
tests that need to be performed, surgeries, travel
expenses, medications, etc. that need to be paid for.

His insurance only covers a portion of what he requires.

Jack's Disease and Diagnosis

Jack's Disease and Diagnosis

It has been a long and frustrating road getting Jack diagnosed. Jack's mother, Jessica, knew
there was something wrong with Jack from birth.

In his first year of life, Jack suffered from: choking issues, wandering eyes, poor muscle
control and development, constant colds, bronchitis and pneumonia, poor weight gain and
overall growth.
He was hospitalized for an unexplained episode in which he turned blue for 30 seconds at 6
weeks. He would have long pauses between breaths at times when he would sleep at night,
but no one knew why.
At then end of his first year, Jack was labeled, "failure to strive" by the doctors. Jessica and
Mac still had no answers. They took Jack to another doctor shortly after this first birthday.
His health continued on with the same pattern, and still no answers.

Jack crawled, walked and spoke later than the norm. He did not walk until he was 22 months
old, and although he could speak, he was hard to understand. After being told again that Jack
was fine, just a late bloomer, Jessica demanded he be referred to another doctor and evaluated.

Upon evaluation, Jack was found to have: poor, extremely low muscle tone, poor self help
skills, easily fatigued and suffered from extremely poor endurance, choking issues, sleeping
problems and tremors.

The list went on. Cognitively he was right on track, if not ahead of himself. Jack just could not
get his body to do what he wanted it to do; it was very frustrating for him and his family.

The doctor could not tell them exactly what was going on. It was thought he may have a case
of mild Cerebral Palsy, but his neurological tests came back fine. Then the doctor suggested
something else, maybe a form of Mitochondrial Disease.

After months of pain, tears, frustration, several doctors, specialists, several trips to Ohio and a
muscle biopsy later... a diagnosis was reached. Confirmed Mitochondrial Disease Complex 2
& 3.

What Jack's Diagnosis Means

Jack's life has been and will continually be severely impacted by the Mitochondrial disease. He
fatigues easily, he suffers from poor endurance, he has tremors in his hands, his head, and at
times, his whole body. His lack of muscle development leads to problems with drooling,
speech and intense acid reflux. The disease is also linked to his respiratory problems, which
include asthma and allergies.

Jack suffers from constant cramping in his legs and joints. He has a very hard time walking.
There are times when his little legs will look like wet spaghetti noodles when he tries to walk
and worse yet, times when he cannot walk at all. Jack was also recently diagnosed with a left
hip that is degenerating. It is causing his left knee to dislocate when he walks. A hip
replacement is inevitable.

Jack's problems fluctuate from day to day. One day may be a bad day full of every problem
there is, the next may be a better day with only a few of the problems stated above. Whatever
the day, there is always some obstacle, some frustration, pain or sickness that Jack must
endure.

Jack is very fortunate that cognitively, he is fine. His brain is developing at a normal rate of a
three-year old boy and he enjoys doing most of the things a normal four-year-old boy likes to
do.

But the most amazing thing about Jack is, that no matter how he feels, no matter how much
pain he is in or how frustrated he is, he always tries his best to function to the best of his
abilities. His spirit is remarkable, his smile is enlightening. He is a trooper, and handles all of the
doctors, needles and medications like a pro. Little Jack also has the most amazing sense of
humor; he makes anyone who knows him ashamed to complain about his sickness.

He really is a gift, and his family thanks God everyday they have him in their lives.

What are the symptoms of mitochondrial diseases?

Mitochondrial diseases are categorized by the organ systems they affect and the present
symptoms. The varying degree of the illness can range severity from mild to fatal.

Depending on which cells of the body are affected, symptoms might include:
• Poor growth
• Loss of muscle coordination, muscle weakness
• Visual and/or hearing problems
• Developmental delays, learning disabilities
• Mental retardation
• Heart, liver, or kidney disease
• Gastrointestinal disorders, severe constipation
• Respiratory disorders
• Diabetes
• Increased risk of infection
• Neurological problems, seizures
• Thyroid dysfunction
• Dementia (mental disorder characterized by confusion, disorientation, and memory loss

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What is mitochondrial disease

What is Mitochondria?

Everyone has mitochondria. Every cell in the human body that contains genetic material is
mitochrondiron (a single mitochondria). Mitochondrion both process oxygen and converts the
food and drink we intake into energy that is necessary for cell function. The mitochondria will
then produce energy to ATP (adenosine triphosphate) which is the major source of energy for
cellular reactions.

The process of converting food and oxygen (fuel) into energy requires hundreds of chemical
reactions, and each chemical reaction must run in almost perfect order to have a continuous
supply of energy. When one or more of these components in the chain of this chemical
reaction does not run in the manner it should, there is an energy crisis, and the cells cannot
function normally. As a result, the incompletely burned food might accumulate as poison inside
the body and these poisons can do irreversible damage to the mitochondria.

What is Mitochondrial Disease ?

Mitochondria can be described as the body’s “building", consisting of five floors. People who
suffer from Mitochondrial diseases suffer from a floor, for example, 1 or 2, etc. being out of
service. On a rare occasion, a person who suffers from this disease may have two floors out
of service at the same time, usually, 1 & 4.

In Jack's case, his 2nd and 3rd floor are out of service. This is an extremely rare occurrence.
In addition, his fat processing system in the Mitochondrion is not working properly, this
compounds his situation and makes it especially difficult to treat his disease.

How are mitochondrial diseases treated?

At this time, there are no known cures for mitochondrial diseases. Some treatments are
available that can help reduce symptoms or possible aid in the delay or progression of the
disease.