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.

Working capital loans for small businesses: a pandemic lifeline?

Currently, it is almost impossible to find a single person who has not been influenced by the pandemic in one way or another. Business is not an exception. In the light of the recent unfortunate events, many business owners entered a rough patch, with its finale not even in the eyesight yet. Usually, when we are talking about business in such a context, we mean small businesses, which have shown themselves to be the most vulnerable under the given circumstances.

Every business requires a constant flow of financial resources to sustain itself effectively. Change occurs incrementally, and with unpredictable expenses and unstable income, a working capital loan (also known as operating capital loan) could be a real lifesaver for your company. Below we have prepared the answers to the most popular questions regarding working capital loans for small businesses. 

What is a Working Capital Loan?

According to the concise definition given by Julia Kagan on Investopedia, a working capital loan is finances aimed at providing a business with resources to cover short-term operational needs, such as paying salaries or rent. 

Unlike a traditional business loan, an operating capital one often doesn’t require a security deposit such as a brick and mortar office, a corporate car, or even business itself. They are easier to settle than traditional ones and can serve as immediate life-saving assistance for business. At first glance, this type of loan sounds like a perfect ‘band-aid’ to cover day-to-day expenses if tough times come. Is it so indeed? Let us find out together.  

What are the benefits of a Working Capital Loan?

Regarding the benefits of supporting your business with a Working Capital Loan, it is needless to mention the major positive aspect, which, quite unsurprisingly, is that this inflow of financial resources will save your company if it is on the brink of collapse. By getting the cash on hand you will be able to deal with urgent financial problems and keep the ownership of your enterprise. Another benefit was already mentioned above – the chances to get a loan without having to put up any collateral are high with these loan types; thus, you do not risk your personal savings. Last but not least, the positive aspect is that you will have the freedom to spend this loan as you consider reasonable in order to stay in business. 

What are the types of Working Capital Loans?

For your convenience, depending on the particular situation you, as a business owner, may find yourself in, such type of a loan comes in different forms:

  • Short -Term Loans
  • A Trade Creditor Working Capital Loan
  • Lines of Credit (Bank Overdraft Facility)
  • Accounts Receivable Loans
  • Advances
  • Personal Resources/Investors Funding

When is it time to get a Working Capital Loan?

Present day coronavirus situation has caused not just massive public health distress, but it has also shown the fragility of many enterprises, especially small ones. Reduced employment, temporary and permanent closures, inconsistent income due to the drop in sales – these are just some of the adverse outcomes of the pandemic and consequent lockdown. 

The current situation has proven small businesses to be the least resilient against the massive economic disruptions caused by COVID-19. During such turbulent times, promptness and affordability of a financial aid provided by an operating capital loan might serve as the only lifeline available to keep a small business afloat.

So, when an operating capital loan is your best choice?

  • Opportunity to expand your business

If you came across an opportunity that spells your company’s growth but requires the resources you do not currently possess – a loan should be your first choice. If the benefits of new horizons outweigh the challenges of the potential debt – go for it! Especially, when working with professionals such as Liberty Capital Group.

  • Fluctuating income

Your business might be seasonal, or, as mentioned, the pandemic currently hinders your sales. Either way, enhancing your working capital is a great option to survive temporary difficulties.

Of course, there are way more reasons, and each case is different. In any event, put your trust only in time-tested professionals to prevent the deterioration of your financial situation. 

Why you should opt for Liberty Capital Group

If you already decided that a cash advance is exactly what your company needs, it is crucial to pick a trustworthy and quality lender. Liberty Capital Group, Inc. has been in the business for over 10 years and has the most advantageous offers, and here is why:

  • Numerous industries coverage

The company covers many industries, including health services, office loans, business equipment, restaurants, etc.

  • Quick and Simple process

You don’t have to spend your time going through the over complex process. All you have to do is to fill in an online form and decide on the option that fits your needs best.

  • Various Options

At Liberty Capital Group they are convinced that every business owner requires a personal approach and a customized packet of options to be able to find the best fitting solution.

  • Affordable Rates

The main goal is to keep your business afloat, that is why the trained corporate professionals will do their best in securing the top terms and most affordable rates for your company’s needs. 

Conclusion

When business owners find themselves in the situation of being short of cash to deal with predictable payments and expenses, they should, first of all, analyze the statistics and business planning perspectives that led to such unfortunate outcomes. If the numbers do not display any serious miscalculation or major planning flaws, a working capital loan may be a great temporary solution to financial constraints that business might be going through at the moment (such as new development opportunities or growth spurts). 

Be sure to review your planning beforehand to cover your fixed costs and have realistic expectations about variable ones. 

Now the whole world is going through a rough patch – these are challenging times for everyone: businessmen, medical workers, teachers, and others. A working capital loan is a perfect quick fix under the COVID circumstances: ‘a genie in the bottle’, if you wish. However, be careful what you wish for, work with professionals, and check all the data in advance to have a certainty that you will be able to pay it back. 

Mitochondrial Disease

Mitochondrial diseases result frоm failures оf thе mitochondria, specialized compartments present іn еvеrу cell оf thе bоdу еxсерt rеd blood cells. Mitochondria аrе responsible fоr creating mоrе thаn 90% оf thе energy needed bу thе bоdу tо sustain life аnd support growth.

Whеn thеу fail, lеѕѕ аnd lеѕѕ energy іѕ generated wіthіn thе cell. Cell injury аnd еvеn cell death follow. If thіѕ process іѕ repeated thrоughоut thе bоdу, whоlе systems begin tо fail, аnd thе life оf thе person іn whоm thіѕ іѕ happening іѕ severely compromised. Thе disease primarily affects children, but adult onset іѕ bесоmіng mоrе аnd mоrе common.

Diseases оf thе mitochondria appear tо саuѕе thе mоѕt damage tо cells оf thе brain, heart, liver, skeletal muscles, kidney аnd thе endocrine аnd respiratory systems.

​Depending оn whісh cells аrе affected, symptoms mау include loss оf motor control, muscle weakness аnd pain, gastro-intestinal disorders аnd swallowing difficulties, poor growth, cardiac disease, liver disease, diabetes, respiratory complications, seizures, visual/hearing problems, lactic acidosis, developmental delays аnd susceptibility tо infection.

Bесаuѕе оf thе range оf symptoms аnd thе frequent involvement оf multiple bоdу systems, mitochondrial diseases саn bе a great challenge tо diagnose. Evеn whеn accurately diagnosed, thеу pose аn еvеn mоrе formidable challenge tо treat, аѕ thеrе аrе vеrу fеw therapies аnd mоѕt аrе оnlу partially effective.

Abоut thіѕ Study

Thе fіrѕt objective оf thіѕ study іѕ tо establish a clinical registry оf patients wіth suspected оr confirmed mitochondrial diseases. Wе аrе collecting medical аnd family history, diagnostic test results, аnd prospective medical information fоr thеѕе patients аnd, using agreed procedures developed bу thе leading research clinicians іn thе field, providing, fоr thе fіrѕt tіmе, standardized diagnoses оf thеѕе complex disorders fоr thе patients. Thе clinical information wе collect frоm thе participants wіll bе used tо learn аbоut thе spectrum оf mitochondrial disorders аnd thеіr prevalence. Wе wіll аlѕо develop studies whісh allow uѕ tо better understand hоw thеѕе diseases progress, whісh wе dо nоt understand wеll еnоugh. Whеn wе begin clinical trials fоr mitochondrial diseases, patients enrolled іn thе registry whо аrе identified аѕ potentially eligible wіll bе offered enrollment. Patients wіll оnlу bе included іn studies іf thеу gіvе thеіr consent іn advance.

Thе second objective оf thіѕ study іѕ tо establish a biorepository fоr specimens аnd DNA frоm patients wіth mitochondrial diseases, іn order tо make materials easily available tо consortium researchers.