Hope for McKenzie Fundraiser

I can do all things through Christ who strengthens me. Phil. 4:13

McKenzie Michelle Carey is 12 years old. She was born on April 20, 2002. She has a life threatening disease called mitochondria. God has a special plan for our angel. There is hope for our babygirl.

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Mitochondrial Depletion Syndrome: The Deadly Condition That Attacked Charlie Gard

Remember Charlie Gard, a baby boy with rare mitochondrial depletion syndrome? As a result of his illness, Charlie could not live without the help of medical equipment. The bad news is that the hospital has just decided to immediately remove Charlie Gard’s life support medical device, arguing that it has delayed Charlie’s death. What exactly is mitochondrial depletion syndrome? Indeed not many people know because this disease is very rare. In fact, medical information is very limited and the disease is also no cure.

In medicine, mitochondrial depletion syndrome is an extremely rare genetic condition. The disease attacks and causes brain tissues to rapidly and significantly lack mitochondrial DNA. The DNA is inside mitochondrial cells, organelles that can be found in almost every cell and have the function of respiration or respiratory and energy production. As a result, the disease causes progressively weakened muscles and damage to the brain. The condition causes sufferers to lack the energy to transfer to the muscles, kidneys, and brain. This syndrome is almost always fatal in both infants and children, although there are also some sufferers who can survive into adolescence.

Mitochondrial depletion syndrome is caused by a genetic mutation and symptoms begin to occur before the baby turns 1 year old. This also happened to Charlie, who was born on August 4, 2016. He was born in good health with a normal weight as well. However, just 1 month after birth, his parents realized that Charlie was not like a baby his age. He had difficulty lifting his head and could not sustain himself. In addition, Charlie’s weight also continues to shrink, he also can not cry or hear. After undergoing a detailed and in-depth examination, doctors finally diagnosed Charlie with mytochondrial depletion syndrome. This genetic disease is passed down through the genes of both parents. The team of doctors is also very careful to diagnose this. Charlie is one of only 16 people in the world to have experienced this rare condition.

In addition to muscle weakness and brain damage, mitochondrial depletion syndrome also has other symptoms such as a very slow way of thinking, reduced body movement, damage to hearing devices, and seizures. These symptoms are also followed by problems with blood glucose levels, persistent vomiting, and no development in infants aged 1 year.

Although there is no cure, there are several treatments that can reduce the symptoms. One of them is nucleoside bypass therapy. Experts say, theoretically this therapy could help re-synthesize mytochondrial DNA by providing natural compounds that can not be produced by the patient’s body. However, in Charlie’s case, doctors and experts are not sure the therapy can work, because Charlie’s condition is very severe.

Knowing the Causes of Mitochondrial Disease

Mitochondria are the “energy factories” of the human body. Several thousand mitochondria can be found in almost every cell. Mitochondria also play some fundamental role in the body, such as converting chemicals from the food we eat into energy as well as processing oxygen. Mitochondria produce 90 percent of the energy the human body needs to function properly. The purpose of the following article is to describe an overview of mitochondrial disease and well-being.

What is Mitochondrial Disease?

Mitochondrial disease is characterized as a chronic, genetic, and often inherited health problem that eventually occurs when mitochondria fail to produce enough energy for the human body to function properly. Mitochondrial diseases can develop from birth but they can often develop at any age. Mitochondrial disease can affect every region of the human body, including brain cells, muscles, heart, liver, kidneys, pancreas, eyes, ears, and nerves, among other structures.

When mitochondria do not function properly due to other health problems, mitochondrial dysfunction occurs. In addition, many health problems can cause secondary dysfunction and result in other neurological diseases, such as Alzheimer’s disease, Lou Gehrig’s disease, and muscular dystrophy. People with secondary dysfunction do not have genetic mitochondrial disease and do not have to worry about the continued development or worsening of symptoms.

What are the symptoms of mitochondrial disease?

Symptoms of mitochondrial disease depend on which cells of the human body are affected. Symptoms can occur at any age, involve one or more organs, and can range from mild to severe. Even patients in the same household, having the exact same mitochondrial disease can have gaps in symptoms, severity, and age of onset or beginning of symptoms.

Symptoms of mitochondrial disease may include:

  • Poor growth
  • Muscle pain, muscle weakness, exercise intolerance, low muscle tone
  • Vision and/or hearing problems
  • Learning disabilities, developmental delays, mental retardation
  • Autism, a feature similar to autism
  • Heart, liver or kidney disease
  • Indigestion, difficulty swallowing, constipation or diarrhea, vomiting, cramps, acid reflux
  • Diabetes
  • Increased risk of infection
  • Neurological problems, seizures, migraines, stroke
  • Motion disorders
  • Thyroid problems
  • Respiratory problems
  • Lactic acidosis or lactate buildup
  • Dementia

What Causes Mitochondrial Disease?

In many people, primary mitochondrial disease is a genetic health problem that can be inherited in several ways. To understand these types of inheritance, it would be helpful to know more about genes and DNA. Genes are substances that give us our properties, such as brown eyes or blue eyes. Genes contain DNA, which is a “blueprint” that gives everyone their typical makeup.

Under normal circumstances, a child inherits one gene from the father and one gene from the mother. A child with mitochondrial disease does not receive a pair of genes from his parents. Genes have mutated or become deformed. Studying how inherited mitochondrial disease helps predict the prospect of disease transmission to children.

Types of inherited mitochondrial diseases are:

  • Autosomal recessive inheritance: The child receives one copy of the mutated gene from each parent. There is a 25 percent chance that every child in the family will inherit mitochondrial disease.
  • Autosomal dominant inheritance: The child receives a copy of the mutated gene from one of the parents. There is a 50 percent chance that every child in the family will inherit mitochondrial disease.
  • Mitochondrial inheritance: In this unique type of inheritance, mitochondria contain their own DNA. Only mitochondrial disorders caused by mutations in mitochondrial DNA are inherited exclusively from the mother. There is a 100 percent chance that every child in the family will inherit mitochondrial disease.
  • Random mutations: Sometimes, genes develop their own mutations that are not inherited from parents.

How Is Mitochondrial Disease Diagnosed?

Mitochondrial disease can be difficult to diagnose by a health professional because mitochondrial disease can eventually affect various organs and tissues in the human body and patients can also have a variety of symptoms. There is currently no single laboratory test or diagnostic test that can confirm the identification of mitochondrial disease. That is why referrals to medical facilities with health professionals who focus on the disease are essential for making a diagnosis.

Diagnosis begins with a series of evaluations and tests that may include:

  • Reviews of a patient’s family history
  • Complete physical evaluation
  • Neurological evaluation
  • Metabolic evaluations that include blood and urine tests, and, if necessary, brain spinal fluid tests

Other evaluations, determined by areas of the human body and symptoms of patients that may include:

  • Magnetic resonance imaging (MRI) or spectroscopy (MRS) for neurological symptoms
  • Retinal or electroretinogram (ERG) exam for vision symptoms
  • Electrocardiogram (ECG) or echocardiogram for symptoms of heart disease
  • Audiogram or auditory-brainstem evoke response (ABER) for auditory symptoms
  • Blood tests to detect thyroid dysfunction if the patient has thyroid problems
  • Blood test to perform genetic DNA test

Testing can include biochemical testing. Biopsies of skin and muscle tissue can also be used for diagnosis.

How Is Mitochondrial Disease Treated?

Unfortunately, there is no cure for mitochondrial disease, however, treatment can help reduce symptoms or slow down the overall decline in well-being. Treatment varies from patient to patient and depends on the severity and mitochondrial disease. There is absolutely no way to predict a patient’s reaction or estimate how that person will be affected in the long run. No two people respond in the same way to the same treatment even if they have the same mitochondrial disease.

Treatments for mitochondrial diseases may include:

  • Vitamins and supplements, including Coenzyme Q10; B-complex vitamins, such as thiamine (B1) and riboflavin (B2), alpha lipoic acid, L-carnitine (Carnitor), Creatine, and L-Arginine.
  • Exercises and physical activity, including endurance exercises and endurance/strength exercises to increase muscle strength. Endurance exercises include walking, running, swimming, dancing, cycling, and more. Resistance/strength training includes exercises such as sit-ups, arm curls, knee extensions, weight lifting and more.
  • Save energy. Don’t try to do too much in no time. Calm down.
  • Other treatments include speech therapy, respiratory therapy, physical therapy, and chiropractic treatments, among others.

Avoid situations that can exacerbate health problems. These include exposure to cold and/or warmth, hunger, sleep deprivation, stressful situations, and alcohol use, smoking and monosodium glutamate or MSG, flavor enhancers commonly added to Chinese food, canned vegetables, soups, as well as processed meats. , among other processed foods.

3 Ways to Stimulate The Baby’s Brain

As a parent, of course I want to have a smart child. After reading various sources on how to have a smart child, I discovered the fact that there are 3 factors that affect a child’s brain development. The first is the hereditary factor. This genetic factor does affect how smart a child is. But if you feel you are not that smart, do not worry, because this genetic factor is not directly 100% determine your child’s intelligence later because there are still other factors. The second factor is the nutritional factor.

A child who is given optimal nutrition will of course have the opportunity for his brain to develop more maximally so that the chances of being smart are greater. And the last one is from the neighborhood. It is from this environment that a child should be given stimulation that will later help his brain to develop more optimally. Well, this time I will share 3 activities to stimulate the brain of a newborn baby.

1 . Sing

Singing with the baby is an activity that can be done since the newborn. This activity is simple but can stimulate the development of his language so that he can communicate smoothly later. Even though your baby looks indifferent and doesn’t understand the singing you’re singing, keep trying consistently to sing for her. One of my friends said he was trying to sing a song for his son every day in the hope that one day his son would start muttering in accordance with the rhythm of the song. But he was very disappointed because it turned out that his son did not follow his mother’s murmur. However, when his son was 1.5 years old, he was surprised when he found his son playing dolls while singing the song that his mother always sang! So do not be discouraged if your little one has not also imitated the song that you have always sung yes!

2 . Read a book

When I was pregnant, I became frequently following the instagram accounts of mothers who I thought how to educate their children was inspiring! That’s when I found a campaign that many of these mothers are doing that is 1000 books in 3 years. So in this campaign it turns out that these mothers invite mothers to read their children at least 1 book in 1 day. I was confused, why should I read a book? Apparently the activity of reading a book if done from when the newborn can help the development of the child’s language. What’s more, it can help the child to love books from childhood. Reading a book can also stimulate the child to flip the book so that it will help him stimulate the child’s motor. It is itself evident in my son. In the past, he still had difficulty moving his fingers to open the book. But now that almost every day is given a book and he also becomes diligent to open the sheet of the book, his fingers are increasingly flexible in flipping through the contents of the book. Even so, it is now harder for him to concentrate quietly when read a book! Now for him it’s more interesting to be able to stand up and play with various items around him.

3 . Play “Cilukba!”

The newborn has the thought that if an object disappears from view, then it also disappears forever. In contrast to our adult thinking who know that in fact the object still exists only that it is not visible to our view. So when we invite the baby to play Cilukba, this is a new and fun concept for him! How not, an object that he thought was missing was still in front of him! It also stimulates his brain to search for the object he suspects is missing. That’s why this simple game still exists from ancient times until now. Not only is the game easy and doesn’t use any tools, there are many benefits! Approximately 3 activities can be done to stimulate the brain of a newborn baby. Based on your experience, what else can be done to play while learning with a newborn baby?

Can Vaccines Be Administered to Children with Congenital Heart Disease?

Congenital Heart Disease (CHD) occurs due to disruption of the process of formation and development of the heart since the fetus in the womb. This is caused by disturbances in valves, heart chambers, septums (sealing walls between the heart chambers), or blood vessels to and from the heart, resulting in impaired blood flow to and from the heart.

CHD is characterized by symptoms such as bluishness or panting breath. However, depending on the type of congenital heart disease experienced, some CHD does not cause bluishness. CHD is distinguished into cyanotic (bluish skin) and asianotic (skin does not turn blue).

Can Children with Congenital Heart Disease Be Vaccinated?

Keeping children with PJB healthy is important to maintain good expectations and quality of life. Moreover, children with CHD are susceptible to diseases such as pneumonia, upper airway infections (ISPA) and meningitis or inflammatory membrane infections of the brain. Vaccination plays an important role in preventing the disease.

Often what causes the patient to be hospitalized is not because of his heart disease, but the infection experienced by the patient. For example, children with CHD have a higher risk of ISPA occurring. This is due to more blood flow to the heart than normal, and causes enlarged volume of lung tissue. PJB patients infected with ISPA take longer to recover than patients without CHD.

Can the vaccine be given to cyanotic or asianotic CHD babies? Yes, the vaccine can be given to both types of CHD, but it is necessary to evaluate and consult with a pediatrician, about the needs of the child.

The provision of vaccines in children with CHD should be given according to the schedule recommended by IDAI. However, it should be noted in PATIENTS PJB sometimes found also immunosuppression conditions due to immunosuppressive drugs, namely drugs to suppress the immune system. On the other hand, immunosuppressive drugs make children with CHD more susceptible to infection.

Therefore, it is necessary to pay special attention to the condition of the patient when going vaccinated, whether in a healthy condition or not, what medications are being taken, and what actions have been and or will be performed on children PJB.

Types of Vaccines Given to Children with CHD

As for some vaccines need to be considered, especially vaccines containing viruses or live bacteria that are weakened, because if the child’s condition is not healthy, even risk to cause infection in patients. The weakened vaccines are:

  • Measles, Mumps, Rubella
  • Varicella
  • Rotavirus
  • Measles
  • Polio (oral)
  • BCG (for tuberculosis vaccine)

Live attenuated influenza vaccine

For the vaccine mentioned above does not mean it should not be given to patients with CHD, but the administration needs special attention from a pediatrician, because if the child’s condition is not healthy even risk causing susceptible to infection.

Other vaccines such as pneumococcus are also no less important, especially in patients after CHD surgery or bypass surgery. The provision of vaccines also need to be considered if it has been done or planned for the operation of PJB, it should be arranged in such a way that the vaccine time is not too close to the schedule of operations, namely:

  • 2 weeks – 1 month before surgery
  • 2 weeks – 1 month after surgery

But it is not always the same, so it can be consulted first with your pediatrician. So any decision to delay or vaccinate is appropriate and your child is protected from the risk of preventable disease infection.