What is Wrong with Robby

*Note: I found this entry on another blog from a mother whose daughter had Mito. As she stated in her entry she was at a loss for words the day she wrote this. Well truth is I am at a loss for words and her entry was so strong for me today when I read it. It is near exactly how we feel about Robby. I borrowed it and changed some of it. But I want to say that it is not all my writing, It is Megan’s mother who wrote most of this. These are her thoughts more than mine, but it is how most of us parents with special needs children feel. It is how I feel everyday. Thank you Megan’s mom for having posted this and I pray for you and your family each day that the good Lord brings you comfort and peace in these difficult times.

"What is wrong with Robby?" Like Megan’s mom I get this question all the time from complete strangers, acquaintances, and even close friends. Sometimes the questions are different. "Why is he in a wheelchair?" "What type of sickness does he have?" "Why is Robby different?" "What do you want us to tell other people when they ask about Robby?"

To be quite honest, depending on the day, who is asking, and how I am feeling at that very second, I respond with a variety of answers like, "Nothing, that's the way God made him." "He's sick." "His brain is broken (that is how Maddy refers to it)." "We don't know." “He is one of eleven children the Drs. have found worldwide with his type of MRI/MRS findings” “They think it is a new type of Leukodystrophy” and "He has a suspected Mitochondrial Disease."

The reason so many parents like us struggle with answers so much is because this question (in whatever form it takes) always reminds us of these things:

1. My son is noticeably different than other children. He is not normal.

2. Doctors have not exactly figured out "what is wrong with Robby."

3. Robby's condition continues to worsen over time.

4. He is going to DIE from his condition.

5. It is more than likely genetic, although we didn’t know this when we were pregnant.

6. There are no cures and there is ABSOLUTELY NOTHING WE CAN DO TO STOP IT!!!!

So, how I or other parents in our situation respond to someone depends on how deeply that dagger-of-a-question pierces our hearts at the very second when it is asked. As Megan’s mom said it best, She imagines that many parents of special needs children feel similarly about this question. And believe me we do.

With that said, the doctors are "extremely confident" that Robby has a Leukodystrophy and a suspected Mitochondrial Disease. Here is some more information from the Mito site:
WHAT ARE MITOCHONDRIA?

Mitochondria are often called the ‘cell’s powerhouse.’ They are specialized compartments within almost every cell. They are responsible for producing 90% of the energy needed by our body to sustain life. Mitochondria combine oxygen from the air we breathe with calories from food to produce energy.
WHAT IS MITOCHONDRIAL DISEASE?

Mitochondrial diseases result when there is a defect that reduces the ability of the mitochondria to produce energy. As the mitochondria fails to produce enough energy, the cell will not function properly and if this continues, cell death will eventually follow. Organ systems will begin to fail and the life of the individual is compromised, changed or ended.

Imagine a major city with half its power plants shut down. At least, such conditions would produce a “brown out” with large sections of the city working far below optimum efficiency. Now imagine your body working with one-half of its energy-producing facilities shut down. The brain may be impaired, vision may be dim, muscles may twitch or may be too weak to allow your body to walk or write, your heart may be weakened, and you may not be able to eat and digest your food. This is precisely the situation people with mitochondrial disease find themselves.

Mitochondrial disease can affect any organ of the body and at any age. Symptoms are extremely diverse and often progressive. They include: strokes and seizures, muscle weakness, gastrointestinal disorders, swallowing difficulties, cardiac disease, liver disease, diabetes, blindness and deafness and susceptibility to infections.


WHAT CAUSES MITOCHONDRIAL DISEASE?

For most patients, there is a genetic mutation in either the mitochondrial DNA or the nuclear DNA. The mutation may have been inherited from the mother or from both parents, or it may represent a spontaneous mutation. For most patients with mitochondrial disease, the genetic mutation has not yet been identified.

There are environmental factors, even certain medicines that may interfere with the mitochondria and result in symptoms."

WHAT IS LEUKODYSTROPHY?

The leukodystrophies are a group of rare genetic disorders that affect the central nervous system by disrupting the growth or maintenance of the myelin sheath that insulates nerve cells. These disorders are progressive, meaning that they tend to get worse throughout the life of the patient.

What is the nervous system?

In order to understand the leukodystrophies, we need to discuss some basic facts about the nervous system. The nervous system is made up of two main components: the central nervous system (CNS) and the peripheral nervous system (PNS). Together, these two systems interact to carry and receive signals that are responsible for nearly everything we do, including involuntary functions such as our heartbeat, and voluntary functions such as walking.

The CNS consists of the brain and the spinal cord, and contains billions of specialized cells known as neurons. Neurons have specialized projections called dendrites and axons that contribute to their unique function of transmitting signals throughout the body. Dendrites carry electrical signals to the neuron, while axons carry them away from the neuron.

The PNS consists of the rest of the neurons in the body. These include the sensory neurons, which detect any sensory stimuli and alert the CNS of their presence, and motor neurons, which connect the CNS to the muscles and carry out instructions from the CNS for movement.
What is Myelin?

Myelin, sometimes referred to as "white matter" because of its white, fatty appearance, protects and insulates the axons. It consists of a protective sheath of many different molecules that include both lipids (fatty molecules) and proteins. This protective sheath acts in a manner very similar to that of the protective insulation that surrounds an electric wire; that is, it is necessary for the rapid transmission of electrical signals between neurons. It does this primarily by containing the electrical molecules within the axon so that they are all properly transmitted to the next neuron. With the protective myelin coat, neurons can transmit signals at speeds up to 60 meters per second. When the coat is damaged, the maximum speed can decrease by ten-fold or more, since some of the signal is lost during transmission. This decrease in speed of signal transmission leads to significant disruption in the proper functioning of the nervous system.

What is a leukodystrophy?

The word leukodystrophy comes from the Greek words leuko (meaning white), trophy (meaning growth), and dys (meaning ill). If you put these words together, the word leukodystrophy describes a set of diseases that affect the growth or maintenance of the white matter (myelin).

How are the leukodystrophies different from one another?

All leukodystrophies are a result of problems with the growth or maintenance of the myelin sheath. However, there are many genes that are important in this process. For example, some genes are involved with the synthesis of the proteins needed for the myelin, while others are required for the proper transport of these proteins to their final location in the myelin sheath that covers the axons. Defects in any of the genes (called a mutation) may lead to a leukodystrophy. However, the symptoms of the individual leukodystrophies may vary because of the differences in their genetic cause.

How do you get leukodystrophy?

Leukodystrophies are mostly inherited disorders, meaning that it is passed on from parent to child. They may be inherited in a recessive, dominant, or X-linked manner, depending on the type of leukodystrophy. There are some leukodystrophies that do not appear to be inherited, but rather arise spontaneously. They are still caused by a mutation in a particular gene, but it just means that the mutation was not inherited. In this case, the birth of one child with the disease does not necessarily increase the likelihood of a second child having the disease.

Are the leukodystrophies related to multiple sclerosis?

The leukodystrophies do share some common features with multiple sclerosis (MS). Like the leukodystrophies, MS is caused by the loss of myelin from the axons. However, the cause is different; whereas leukodystrophies are generally caused by a defect in one of the genes involved with the growth or maintenance of the myelin, MS is thought to be caused by an attack on the myelin by the body’s own immune system.

How many different leukodystrophies are there?

New leukodystrophies are always being identified. We try to keep our information as up-to-date as possible, and so the 34 leukodystrophies we have listed here comprise the defined leukodystrophies to the best of our knowledge. A fact sheet on each of these diseases is available from the United Leukodystrophy Foundation.



Leukodystrophies and Mitochondrial Diseases are also typed into different categories based on severity and symptoms present. We do not know which type Robby has. None of his testing has shown conclusive evidence to represent his type. We do know that there is a reduced activity for cytochrome c oxidase. Citrate synthase, a marker of Mitochondrial volume, is elevated, indicating Mitochondrial proliferation. When normalized to citrate synthase, all respirtory chain enzyme activities are reduced.

We found all of this out when Robby was just one year old, after a muscle biopsy and biochemical testing. We also know that Robby has a Leukodystrophy. He sees Drs. at Kennedy Krieger Institute which is affiliated with John Hopkins in Baltimore. Dr. Naidu is the lead Dr. researching this “new Leukodystrophy” and Dr. Kelley is the Dr. who suspects mitochondrial deficiency.

We were told he probably would not survive past six months when he became sick at 8 days of life and then they gave us a year. Next we heard maybe until he is five and now we are hoping to just get to the teen years. The only person that truly knows is God and as Dr. Naidu once said she cannot play God. She is a great physician who is open and honest with us. She may not have all the answers but she sure tries hard to find them, not only for us but all the other families like ours.

We trust in the Lord that he will help us when we are scared, sad, confused and that he will let us just have whatever time we are to have with Robby now. We want only for Robby to have as normal a life as possible.