loveforjackmclean: Hot

Thursday, July 21, 2011

Hot

Well this has been a hot week. Today is going to be even hotter. It makes it very hard for Jack. Over heating is a major concern with his disease. He has a cooling vest but in this type of heat staying in the AC is the best option for him. He said last night before bed, "can we pray about the hot weather mommy". He also said "make sure I don't get sick or die tomorrow". People might think that is a bit dramatic but that is the seriousness of Jack's disease. He is also having sun and skin sensitivities. He burns extremely easy. He is also experiencing scaring issues. We have talked to his specialist here and it is not uncommon with Jack's disease to have these issues. It is something we are going to talk about with the specialist in Cleveland when we go in August. The specialist here gave us some fancy names and things to look up.

Last night really made me think. Jack is 7 years old and is starting to have real concerns for his health and safety. That is because we have been really trying to teach him about everything. He has to learn how to take care of himself and recognize warning signs in his body. People look at Jack and he appears pretty normal. It is easy in a school setting or when we are not present for someone to over look something with Jack and him be in a life threatening situation. We have had no choice but to start teaching him the seriousness of his disease. It is hard because I do not want to scare him. We have had no choice but to explain the steps and worst case scenarios of what can happen if proper care is not taken in all different types of situations.

I hear people complain all the time. I even find myself complaining about things. Last night it made me realize how hard it is for Jack. He is 7 and has to think about what can happen if someone doesn't notice or help him prevent something. He has to think about the weather. He cant always play the things the other children do. I watch him get picked last for games because he is the slowest or falls. He is the one that none want on their team because he is slow. He has so many daily struggles. Walk one day in his shoes and it would make us all appreciate our lives a bit more.

Jack takes each day at a time and is a very happy person. He has a great sense of humor and is very kind. He is starting to really have to deal with daily frustrations. He is starting to have to deal with the reality of his disease and how it effects his life. He struggles with that at times. He has fear and questions. He has frustrations and moments of disappointment. Regardless, he gets up the next day with a smile on his face and he tries very hard to have a good day.

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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.