Have You Heard of This?

Fabry’s Disease. I’ve noticed some posts on Facebook about this and now I’ve been invited to join the Kidneys and Fabry’s Disease group on Facebook. It’s amazing timing since I had decided the day before being asked to join the group that I’d be writing about it for today’s blog. The fun part for me is that I know absolutely nothing about this disease, so I get to explore it. 

The first thing I learned is that it has multiple names. The National Organization for Rare Disorders (NORD) at https://rarediseases.org/rare-diseases/fabry-disease/ lists them as: 

  • “alpha-galactosidase A deficiency 
  • Anderson-Fabry disease 
  • angiokeratoma corporis diffusum 
  • angiokeratoma diffuse 
  • GLA deficiency” 

We’ll use the name Fabry’s Disease for this blog. 

Let’s start at the beginning with an explanation of what it is. You’re going to have to read this slowly and carefully… or, at least, I did. It’s from The National Fabry Disease Organization at https://www.fabrydisease.org/index.php/about-fabry-disease/what-is-fabry-disease

“Fabry disease is a rare genetic disorder caused by a defective gene (the GLA gene) in the body. In most cases, the defect in the gene causes a deficient quantity of the enzyme alpha-galactosidase A. This enzyme is necessary for the daily breakdown (metabolism) of a lipid (fatty substance) in the body called globotriaosylceramide abbreviated GL-3 or GB-3. When proper metabolism of this lipid and other similar lipids does not occur, GL-3 accumulates in the majority of cells throughout the body. The resulting progressive lipid accumulation leads to cell damage. The cell damage causes a wide range of mild to severe symptoms including potentially life-threatening consequences such as kidney failure, heart attacks and strokes often at a relatively early age. Fabry disease is a progressive, destructive and potentially life-threatening disease. Fabry disease can affect males and females of all ethnic and cultural backgrounds.” 

That does not sound good. I wondered if there were symptoms. Remember that sometimes – like in my case – Chronic Kidney Disease doesn’t have symptoms. WebMd at https://www.webmd.com/a-to-z-guides/fabry-disease#1 tells us you may experience the following: 

“Pain and burning in your hands and feet that get worse with exercise, fever, hot weather, or when you’re tired 

Small, dark red spots usually found between your bellybutton and knees 

Cloudy vision 

Hearing loss 

Ringing in the ears 

Sweating less than normal 

Stomach pain, bowel movements right after eating” 

This is definitely something I wouldn’t want to play around with. Remember we discovered earlier in the blog that it’s genetic. That means you inherit it. Cedars-Sinai, a Los Angeles nonprofit academic healthcare organization at https://www.cedars-sinai.org/health-library/diseases-and-conditions/f/fabrys-disease.html informs us: 

“There is no cure for Fabry’s disease. However, in some cases the disease can be stopped from progressing if treated early enough. The first treatment generally is an enzyme replacement therapy which works to normalize the body’s ability to break down the fat.” 

Healthline (Yes, that Healthline) at https://www.healthline.com/health/fabry-disease explains that Fabry’s Disease can be very serious: 

“…. It’s progressive and can be life-threatening. People with FD have a damaged gene that leads to a shortage of an essential enzyme. The shortage results in a buildup of specific proteins in the body’s cells, causing damage to the: 

heart 

lungs 

kidneys 

skin 

brain 

stomach 

The disease affects both men and women in all ethnic groups, but men are usually more severely affected.” 

Hopefully, you noticed ‘kidneys’ in the list above. That is why I’ve included this disease in the kidney disease blogs. I want to remind you that this is a rare disease and that the purpose of the blog is to inform, not frighten. 

Further complicating our explanation is that there are two kinds of Fabry’s Disease. I turned to Fabry Disease News at https://fabrydiseasenews.com/type-2-fabry-disease/ for more information. 

“Fabry disease primarily has two recognized forms — type 1 (classical form) is the most severe and is associated with very little or no alpha-galactosidase activity, while type 2 (late-onset form) is milder with some residual enzyme activity.” 

This makes me think of Diabetes. Type 1 occurs when there is no insulin produced, while Type 2 occurs when there is insulin resistance and is a milder form of Diabetes. 

I wanted more about kidney disease and Fabry’s Disease so I kept poking around and I found it on The U.S. Department of Health and Human Services’ National Institutes of Health’s National Center for Advancing Translational Sciences’ Genetic and Rare Disease Information Center (That is one long title.) at https://bit.ly/325QD8K,  

ACE inhibitors may be used to treat decreased kidney function (renal insufficiency). ACE inhibitors can reduce the loss of protein in the urine (proteinuria). If kidney function continues to decrease dialysis and/or kidney transplantation may be necessary. A kidney transplanted successfully into a person with Fabry disease will remain free of the harmful build up of the fatty acid GL3 and therefore will restore normal kidney function. However it will not stop the buildup of GL3 in other organs or systems of the body. In addition, all potential donors that are relatives of the person with known Fabry disease should have their genetic status checked to make sure they do not have a pathogenic variant (mutation) in the GLA gene (even if they do not have symptoms).” 

Does this sound familiar? It’s also what can happen in CKD without involving the other organs, of course. 

The National Institute of Health’s National Institute of Neurological Disorders and Stroke at https://bit.ly/35RQ6Ze offers opportunities to join clinical trials and provides Fabry Disease patient organizations. The organizations listed presently are: 

Fabry Support & Information Group 

 
National Fabry Disease Foundation 

 
National Organization for Rare Disorders (NORD) 

 
National Tay-Sachs and Allied Diseases Association 

My head is spinning with all this new information right now and I suppose yours is, too. Maybe it’s time to stop and let us both digest it. 

Until next week, 

Keep living your life! 

They Go Together… Sometimes 

I’m certain you’ve already read about Covid-19 causing Acute Kidney Injury (AKI). To the best of our knowledge, it’s airborne which means the lungs are involved. But did you know there’s a correlation between the lungs and the kidneys?

Think of it this way. You know Chronic Kidney Disease (CKD) can be the cause of diabetes (sigh, that’s me) or hypertension (high blood pressure). You also know that hypertension can be the cause of CKD (sigh, that’s me again.) Well, AKI can be the cause of Acute Lung Disease (ALI) and ALI can be the cause of Acute Kidney Disease.

I know I just blindsided you with a new medical term, so let’s find out just what ALI is.  I went to The National Organization for Rare Disorders at https://rarediseases.org/rare-diseases/acute-respiratory-distress-syndrome/ for what turned out to be a rather comprehensive answer:

“Acute respiratory distress syndrome (ARDS) is a type of severe, acute lung dysfunction affecting all or most of both lungs that occurs as a result of illness or injury. Although it is sometimes called adult respiratory distress syndrome, it may also affect children. ARDS is a buildup of fluid in the small air sacs (alveoli) in the lungs. This makes it difficult for oxygen to get into the bloodstream.”

Ah, so ALI and Acute Respiratory Distress Syndrome (ARDS) are one and the same. That should make finding information about it a bit easier.

We’ve just learned that ALI can cause AKI and vice-versa, but what can cause ALI beside Covid-19? This list is from the Mayo Clinic at https://www.mayoclinic.org/diseases-conditions/ards/symptoms-causes/syc-20355576. Notice they do include COVID-19 as a cause of ARDS.

  • “Sepsis. The most common cause of ARDS is sepsis, a serious and widespread infection of the bloodstream.
  • Inhalation of harmful substances. Breathing high concentrations of smoke or chemical fumes can result in ARDS, as can inhaling (aspirating) vomit or near-drowning episodes.
  • Severe pneumonia. Severe cases of pneumonia usually affect all five lobes of the lungs.
  • Head, chest or other major injury. Accidents, such as falls or car crashes, can directly damage the lungs or the portion of the brain that controls breathing.
  • Coronavirus disease 2019 (COVID-19). People who have severe COVID-19 may develop ARDS.
  • Others. Pancreatitis (inflammation of the pancreas), massive blood transfusions and burns.”

We can probably guess that one of the symptoms of ALI or ARDS is breathlessness, but let’s see if there are any others. I decided to go to Healthline at https://www.healthline.com/health/acute-respiratory-distress-syndrome#symptoms for this information. Yep, breathlessness is not the only symptom of ARDS.

  • “labored and rapid breathing
  • muscle fatigue and general weakness
  • low blood pressure
  • discolored skin or nails
  • a dry, hacking cough
  • a fever
  • headaches
  • a fast pulse rate
  • mental confusion”

This is not looking good at all. I’m wondering how ALI is treated now. The American Lung Association at https://www.lung.org/lung-health-diseases/lung-disease-lookup/ards/ards-treatment-and-recovery was detailed in explaining.

Ventilator support

All patients with ARDS will require extra oxygen. Oxygen alone is usually not enough, and high levels of oxygen can also injure the lung. A ventilator is a machine used to open airspaces that have shut down and help with the work of breathing. The ventilator is connected to the patient through a mask on the face or a tube inserted into the windpipe.

Prone positioning

ARDS patients are typically in bed on their back. When oxygen and ventilator therapies are at high levels and blood oxygen is still low, ARDS patients are sometimes turned over on their stomach to get more oxygen into the blood. This is called proning and may help improve oxygen levels in the blood for a while. It is a complicated task and some patients are too sick for this treatment.

Sedation and medications to prevent movement

To relieve shortness of breath and prevent agitation, the ARDS patient usually needs sedation. Sometimes added medications called paralytics are needed up front to help the patient adjust to the ventilator. These medications have significant side effects and their risks and benefits must be continuously monitored.

Fluid management

Doctors may give ARDS patients a medication called a diuretic to increase urination in hopes of removing excess fluid from the body to help prevent fluid from building up in the lungs. This must be done carefully, because too much fluid removal can lower blood pressure and lead to kidney problems.

Extracorporeal membrane oxygenation (ECMO)

ECMO is a very complicated treatment that takes blood outside of your body and pumps it through a membrane that adds oxygen, removes carbon dioxide and then returns the blood to your body. This is a high-risk therapy with many potential complications. It is not suitable for every ARDS patient.”

Now that we understand what ALI/ARDS is, what – in heaven’s name – does it have to do with AKI?

“Renal failure is a frequent complication of ARDS, particularly in the context of sepsis. Renal failure may be related to hypotension, nephrotoxic drugs, or underlying illness. Fluid management is complicated in this context, especially if the patient is oliguric. Multisystem organ failure, rather than respiratory failure alone, is usually the cause of death in ARDS.”

Thank you Medscape at https://www.medscape.com/answers/165139-43289/why-is-renal-failure-a-frequent-complication-of-acute-respiratory-distress-syndrome-ards for the explanation.  I think a few definitions are in order to adequately understand this explanation.

“Sepsis refers to a bacterial infection in the bloodstream or body tissues. This is a very broad term covering the presence of many types of microscopic disease-causing organisms.

Hypotension is the medical term for low blood pressure.

Nephrotoxic is toxic, or damaging, to the kidney.

(Oligoric is the adjective meaning of or pertaining to oligoria.)

Oliguria or oliguresis is the noun meaning the excretion of an abnormally small volume of urine, often as the result of a kidney disorder.”

All the above definitions were paraphrased from The Free Dictionary by Farlex, Medical Dictionary.

You probably know more than you wanted to about the connection between Covid-19, your lungs, and your kidneys than you ever intended to find out by now. Don’t be frightened, but do wear your mask and continue to social distance. Oh, and don’t forget the hand sanitizer.

Until next week,

Keep living your life!

How Sweet It Isn’t

Hello again. Last week when I was writing about Bipolar Disorder and Chronic Kidney Disease, I mentioned nephrogenic diabetes insipidus. During the week I realized how little I know about that.

Let’s start by going back and reviewing what I wrote last week:

“What is nephrogenic diabetes insipidus?
The most common problem from taking lithium is a form of diabetes due to kidney damage called nephrogenic diabetes insipidus. This type of diabetes is different than diabetes mellitus caused by high blood sugar. In nephrogenic diabetes insipidus, the kidneys cannot respond to anti-diuretic hormone (ADH), a chemical messenger that controls fluid balance. This results in greater than normal urine out-put and excessive thirst. It can be hard to treat nephrogenic diabetes insipidus.”

Frankly, that’s not enough information for me, although it’s pretty clear. Former English teacher here. Let’s take a look at the words themselves. Keep in mind, this is what I learned along the years.

Nephro = kidneys

Genic = Beginning in

So we know this disease begins in the kidneys. And diabetes? According to Michigan State University at https://www.canr.msu.edu/news/how_diabetes_got_its_name,

“The ancient Greek word for diabetes means, ‘passing though; a large discharge of urine.’ The meaning is associated with frequent urination, which is a symptom of diabetes.”

And finally insipidus. I found myself turning to Wikipedia at https://en.wikipedia.org/wiki/Diabetes_insipidus#:~:text=”Insipidus”%20comes%20from%20Latin%20language,or%20zest%3B%20not%20tasty for help with this.

” ‘Insipidus’ comes from Latin language insipidus (tasteless), from Latin: in- ‘not’ + sapidus ‘tasty’ from sapere ‘have a taste’ — the full meaning is ‘lacking flavor or zest; not tasty’.”

This one I didn’t quite get. Back to the above link to figure out what tasteless has to do with this disease.

“Application of this name to DI arose from the fact that diabetes insipidus does not cause glycosuria (excretion of glucose into the urine).”

Ah, so the urine is not sweet. Reminder: Diabetes can be diagnosed by the doctor tasting the urine. While this was more common in the 1600s, I have read about doctors tasting urine for diabetes more recently and even currently. If the urine is sweet, diabetes is present.

This is interesting. I’d never considered a form of diabetes that didn’t deal with blood glucose, which may also be called blood sugar, so sweet. Of course, I then began to wonder if taking lithium was the only way to develop this disease. The Mayo Clinic at https://www.mayoclinic.org/diseases-conditions/diabetes-insipidus/symptoms-causes/syc-20351269#:~:text=Nephrogenic%20diabetes%20insipidus%20occurs%20when,or%20a%20chronic%20kidney%20disorder was quite a bit of help here:

“Nephrogenic diabetes insipidus occurs when there’s a defect in the kidney tubules — the structures in your kidneys that cause water to be excreted or reabsorbed. This defect makes your kidneys unable to properly respond to ADH.

The defect may be due to an inherited (genetic) disorder or a chronic kidney disorder. Certain drugs, such as lithium or antiviral medications such as foscarnet (Foscavir), also can cause nephrogenic diabetes insipidus.”

This is a lot of new information to understand unless we get more help. Let’s take a look at kidney tubules now. I turned to my old favorite Healthline at https://www.healthline.com/health/human-body-maps/kidney#nephrons and found the following:

“Each tubule has several parts:

  • Proximal convoluted tubule. This section absorbs water, sodium, and glucose back into the blood.
  • Loop of Henle. This section further absorbs potassium, chloride, and sodium into the blood.
  • Distal convoluted tubule. This section absorbs more sodium into the blood and takes in potassium and acid.

By the time fluid reaches the end of the tubule, it’s diluted and filled with urea. Urea is byproduct of protein metabolism that’s released in urine.”

That makes sense, but what about this ADH? What is that?  My Health Alberta Ca at https://myhealth.alberta.ca/Health/pages/conditions.aspx?hwid=hw211268 tells us:

“Antidiuretic hormone (ADH) is a chemical produced in the brain that causes the kidneys to release less water, decreasing the amount of urine produced. A high ADH level causes the body to produce less urine. A low level results in greater urine production.

Normally, the amount of ADH in the body is higher during the night. This helps prevent urination while you are sleeping. But if the levels of ADH remain low during the night, the body will produce large amounts of urine, so urination during the night is more likely.”

We know how you can develop nephrogenic diabetes insipidus, but how do you treat it once you’ve been diagnosed? WebMD at https://www.webmd.com/diabetes/guide/nephrogenic-diabetes-insipidus-symptoms-causes-and-treatments offers us the following:

“If a drug like lithium is responsible, switching medicines might improve nephrogenic diabetes insipidus.

Most adults with nephrogenic diabetes insipidus are able to keep up with fluid losses by drinking water. For some people, though, the symptoms of near-constant thirst and urination can become intolerable. Some treatments can reduce the symptoms of nephrogenic diabetes insipidus, at least somewhat:

All adults and children with nephrogenic diabetes insipidus should take frequent bathroom breaks. This helps to avoid over-distending the bladder, which can cause long-term problems, though rarely.

The most important treatment for nephrogenic diabetes insipidus is to ensure constant access to lots of water. Not keeping up with fluid losses can lead to dehydration or electrolyte imbalances, which can sometimes be severe. Seek medical help if symptoms don’t improve after rehydrating, eating fresh fruit, and taking a multivitamin.”

Now, the biggie…. Is this rare disease curable? Unfortunately it isn’t, although,

“For individuals with acquired NDI treating the underlying cause (e.g., correcting metabolic imbalances or discontinuing drug use) can reverse the kidneys resistance to vasopressin. [Gail here again: Vasopressin is another name for ADH as far as I can tell.] However, this reversal may take weeks. In some cases caused by the use of drugs such as lithium, it may take years for the kidneys to respond to vasopressin again or it can become irreversible.”

Thank you to National Organization for Rare Diseases (NORD) at https://rarediseases.org/rare-diseases/nephrogenic-diabetes-insipidus/ for the above information.

I feel like I’ve been down the rabbit hole with Alice with all this new information about a rare disease that your already existing kidney disease may cause. Hopefully, you won’t be one of its victims.

Until next week,

Keep living your life!

Now What? 

Wow! It’s the last month of 2019 already. You may have noticed there was no blog post last week. That’s because I was unexpectedly hospitalized with just my iPhone on me and poor internet at the hospital not once, but twice. But I’m back in the office now.

Today is Dana’s turn to have his request filled. Although, I do wish the reader who graciously agreed to wait until after I’d recovered from major surgery to have her questions answered would contact me again. With so many people at my computer while I was hospitalized, her questions have been, er, mislaid.

Okay, Dana, back to you. Uh-oh, your messages have seemed to disappear, too. Well, I guess that’s the last time I allow anyone to use my computer. I do apologize. Please resend your questions.

Mind you all, I am not a doctor. I’m just a writer who’s taught research writing and been a Chronic Kidney Disease, stage 3 patient for 11 years. Anything I suggest – or that anyone else suggests, for that matter – should be checked with your nephrologist before you act on it

Hmmm, we have to hold off on both questions. Now what? I know. Let’s look at a rare kidney disease. Are you game? Well, will you look at that? I’ve already blogged about some of them on this list by the American Kidney Fund at https://www.kidneyfund.org/kidney-disease/other-kidney-conditions/rare-diseases/  Use the topic drop down on the right side of the blog if you’re seeking info on one of them or let me know if you’d like information about one I haven’t yet written about. Use comment on the blog so it doesn’t get lost.

Minimal change disease?  Whatever could that be? And why is it labeled in plain, laymen English rather than medical terms that we’d have to look up? Let’s find out.

According to the National Kidney Fund at https://www.kidney.org/atoz/content/minimal-change-disease,

“Many diseases can affect your kidney function by attacking and damaging the glomeruli, the tiny filtering units inside your kidney where blood is cleaned. The conditions that affect your glomeruli are called glomerular diseases. One of these conditions is minimal change disease (MCD). Minimal change disease is a disorder where there is damage to your glomeruli. The disease gets its name because the damage cannot be seen under a regular microscope. It can only be seen under a very powerful microscope called an electron microscope. Minimal change disease is the most common cause of nephrotic syndrome in children. It is also seen in adults with nephrotic syndrome, but is less common. Those with MCD experience the signs and symptoms of nephrotic syndrome much quicker than they would with other glomerular diseases.”

This is so logical it makes me wonder why the rest of medicine isn’t. I was referring to the part about the electron microscope. Let’s slow down a bit and take a look at “nephrotic syndrome” to ensure we fully understand what this disease is about.

The Mayo Clinic at https://www.mayoclinic.org/diseases-conditions/nephrotic-syndrome/symptoms-causes/syc-20375608 tells us,

“Nephrotic syndrome is a kidney disorder that causes your body to excrete too much protein in your urine.

Nephrotic syndrome is usually caused by damage to the clusters of small blood vessels in your kidneys that filter waste and excess water from your blood. Nephrotic syndrome causes swelling (edema), particularly in your feet and ankles, and increases the risk of other health problems.”

Got it? Okay, then back to minimal change disease. How, in heaven’s name, do you get it? Hmmm, after surfing the internet for a while, it’s become clear the medical community doesn’t yet know the cause of minimal change disease, although the following may be involved:

“The cause is unknown, but the disease may occur after or be related to:

  • Allergic reactions
  • Use of NSAIDs
  • Tumors
  • Vaccinations (flu and pneumococcal, though rare)
  • Viral infections”

Thank you MedlinePlus (part of the U.S. National Library of Medicine, which is part of the National Institutes of Health) at https://medlineplus.gov/ency/article/000496.htm.

All right then, maybe we could move on to the symptoms. This is clearly one of those times I wish I could understand medicalese. The best I could figure out is that, while kidney function remains normal, minimal change disease leads you right into nephrotic syndrome. That is a conglomeration of symptoms, as explained by Merck Manual Consumer Version at https://www.merckmanuals.com/home/kidney-and-urinary-tract-disorders/kidney-filtering-disorders/nephrotic-syndrome?query=Minimal%20Change%20Disease#v761896:

“Early symptoms include

  • Loss of appetite
  • A general feeling of illness (malaise)
  • Puffy eyelids and tissue swelling (edema) due to excess sodium and water retention
  • Abdominal pain
  • Frothy urine

The abdomen may be swollen because of a large accumulation of fluid in the abdominal cavity (ascites). Shortness of breath may develop because fluid accumulates in the space surrounding the lungs (pleural effusion). Other symptoms may include swelling of the labia in women and, in men, the scrotum. Most often, the fluid that causes tissue swelling is affected by gravity and therefore moves around. During the night, fluid accumulates in the upper parts of the body, such as the eyelids. During the day, when the person is sitting or standing, fluid accumulates in the lower parts of the body, such as the ankles. Swelling may hide the muscle wasting that is progressing at the same time.

In children, blood pressure is generally low, and blood pressure may fall when the child stands up (orthostatic or postural hypotension). Shock occasionally develops. Adults may have low, normal, or high blood pressure.

Urine production may decrease, and kidney failure (loss of most kidney function) may develop if the leakage of fluid from blood vessels into tissues depletes the liquid component of blood and the blood supply to the kidneys is diminished. Occasionally, kidney failure with low urine output occurs suddenly.

Nutritional deficiencies may result because nutrients are excreted in the urine. In children, growth may be stunted. Calcium may be lost from bones, and people may have a vitamin D deficiency, leading to osteoporosis. The hair and nails may become brittle, and some hair may fall out. Horizontal white lines may develop in fingernail beds for unknown reasons.

The membrane that lines the abdominal cavity and abdominal organs (peritoneum) may become inflamed and infected. Opportunistic infections—infections caused by normally harmless bacteria—are common. The higher likelihood of infection is thought to occur because the antibodies that normally combat infections are excreted in the urine or not produced in normal amounts. The tendency for blood clotting (thrombosis) increases, particularly inside the main veins draining blood from the kidneys. Less commonly, the blood may not clot when clotting is needed, generally leading to excessive bleeding. High blood pressure accompanied by complications affecting the heart and brain is most likely to occur in people who have diabetes or systemic lupus erythematosus.”

So, while the name of the disease is written in plain language, it’s clear this is a more complicated rare kidney disease than that would suggest.

Until next week,

Keep living your life!

Yet Another One

Chronic Kidney Disease awareness advocates have a tendency to hang out together online. One who has become a good buddy and happens to live in Hawaii (Now you see why we’re online buddies.), and I were going back and forth about how it’s important to be what I call a lifelong learner. To put it another way, someone who investigates that about which they don’t know. The timing was good.

A reader soon started communicating with me about tuberous sclerosis complex (TS). I was polite. I was patient. And I had no clue what this had to do with kidney disease, although the word “tuberous” caught my eye. By the way, Dictionary.com at https://www.dictionary.com defines tuberous as “characterized by the presence of rounded or wartlike prominences or tubers.” So I did what any curious, intelligent lifelong learner would do. I asked… and the response was an eye opener.

What she, the reader, sent me led to my going back to my old friend The National Institutes of Health’s U.S. National Library of Medicine. This definition is from their website at https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex,

“Tuberous sclerosis complex is a genetic disorder characterized by the growth of numerous noncancerous (benign) tumors in many parts of the body. These tumors can occur in the skin, brain, kidneys, and other organs, in some cases leading to significant health problems.”

So, that’s the connection to kidney disease: tumor growth on the kidney… and, according to this definition, it’s genetic. It wasn’t mentioned there, but I remember thinking that it’s also a rare disease.

I thought I’d hop over to National Organization for Rare Diseases at https://rarediseases.org/rare-diseases/tuberous-sclerosis/ for more information, just in case it really was a rare disease. It’s a good thing I did because as it turned out, this is not only a genetic disease, but one that can also be caused by mutation:

“In many instances, an alteration causing tuberous sclerosis occurs as a new (sporadic or de novo) mutation, which means that the gene alteration has occurred at the time of the formation of the egg or sperm for that child only, and no other family member will be affected. The disorder is not inherited from or ‘carried’ by a healthy parent. However, such alterations can be passed on through dominant inheritance (where a trait is transmitted from either an affected mother or father to their child).”

I needed to know more so I poked around looking for the symptoms. My first stop was the ever reliable Mayo Clinic at https://www.mayoclinic.org/diseases-conditions/tuberous-sclerosis/symptoms-causes/syc-20365969 :

“Although the signs and symptoms are unique for each person with , they can include:

  • Skin abnormalities. Most people with tuberous sclerosis have patches of light-colored skin, or they may develop small, harmless areas of thickened, smooth skin or reddish bumps under or around the nails. Facial growths that begin in childhood and resemble acne also are common.
  • Seizures. Growths in the brain may be associated with seizures, which can be the first symptom of tuberous sclerosis. In small children, a common type of seizure called infantile spasm shows up as repetitive spasms of the head and legs.
  • Cognitive disabilities. Tuberous sclerosis can be associated with developmental delays and sometimes intellectual disability or learning disabilities. Mental health disorders, such as autism spectrum disorder or attention-deficit/hyperactivity disorder (ADHD), also can occur.
  • Behavioral problems. Common behavioral problems may include hyperactivity, self-injury or aggression, or issues with social and emotional adjustment.
  • Kidney problems. Most people with tuberous sclerosis develop noncancerous growths on their kidneys, and they may develop more growths as they age.
  • Heart issues. Growths in the heart, if present, are usually largest at birth and shrink as the child gets older.
  • Lung problems. Growths that develop in the lungs may cause coughing or shortness of breath, especially with physical activity or exercise. These benign lung tumors occur more often in women than in men.
  • Eye abnormalities. Growths can appear as white patches on the light-sensitive tissue at the back of the eye (retina). These noncancerous growths don’t always interfere with vision.”

Nope, not enough yet. Even though growths on the kidneys were mentioned, I wanted to know about diagnosing this rare disease. This time I turned to Healthline (Yes, the same Healthline that twice deemed this blog one of the top six kidney blogs.) at https://www.healthline.com/health/tuberous-sclerosis#diagnosis . This is what I found there:

“TS is diagnosed by genetic testing or a series of tests that includes:

an MRI of the brain

a CT scan of the head

an electrocardiogram

an echocardiogram

a kidney ultrasound

an eye exam

looking at your skin under an Wood’s lamp, which emits ultraviolet light”

But what about a cure or treatment? Is there any? According to MedicineNet at https://www.medicinenet.com/tuberous_sclerosis_complex_tsc/article.htm#how_is_tsc_treated ,

“There is no cure for TSC, although treatment is available for a number of the symptoms. Antiepileptic drugs may be used to control seizures. Vigabatrin is a particularly useful medication in TSC, and has been approved by the U.S. Food and Drug Administration (FDA) for treatment of infantile spasms in TSC, although it has significant side effects. The FDA has approved the drug everolimus (Afinitor®) to treat subependymal giant cell astrocytomas (SEGA brain tumors) and angiomyolipoma kidney tumors. Specific medications may be prescribed for behavior problems. Intervention programs including special schooling and occupational therapy may benefit individuals with special needs and developmental issues. Surgery may be needed in case of complications connected to tubers, SEN or SEGA, as well as in risk of hemorrhage from kidney tumors. Respiratory insufficiency due to LAM can be treated with supplemental oxygen therapy or lung transplantation if severe.”

I find myself flabbergasted that, yet again, there is so much to learn for this particular lifelong learner. Wait, you should also know there is an association for those with the disease. It’s the Tuberous Sclerosis Alliance. The following link is for the page that explains how this disease affects the kidneys: https://www.tsalliance.org/about-tsc/signs-and-symptoms-of-tsc/kidneys/. Should you be newly diagnosed with this disease or know someone who has been, that’s where you find easily understood information and support. You can also click on to their home page if you want to know how it affects other parts of the body.

That is plenty to absorb for one day.

Until next week,

Keep living your life!