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! 

It Isn’t  Ain’t; It’s AIN.  

I’ll explain that in a minute, but first – on this Labor Day weekend – I want to thank all the readers who have liked individual blogs. These likes let me know I’m writing about topics that interest you.

Let’s turn to AIN now.  You know it’s not just a word, but an acronym. That’s a word formed by the initials of a term, like ASAP for as soon as possible. By the way, ‘nym’ means name, while ‘acr’ means height, summit, tip, top.  ‘O’ connects the two roots. So, we have the tip of the words or the first letters forming an acronym which becomes a recognized word. Thank you to my college course in Greek and Latin roots. I knew that would come on handy someday and it has again and again.

Well, what does AIN mean? It is the acronym for Allergic Interstitial Nephritis, which is a mouthful itself. ‘Allergic’ we get. That’s a common enough word. ‘Interstitial’, though? I remember the prefix (group of related words before the root word that changes its meaning) ‘inter’ means between, but between what? Merriam-Webster Dictionary at https://bit.ly/3h3cF0H, here we come.

asituated within but not restricted to or characteristic of a particular organ or tissue —used especially of fibrous tissue

 baffecting the interstitial tissues of an organ or part

I wonder if we’ll need both definitions. I think we need to be reminded of what nephritis is before we can tell. Again, I remember from that college course so very long ago (Funny what sticks in your mind, isn’t it?) that ‘itis’ means inflammation. We know from all the writings about Chronic Kidney Disease that ‘neph’ means kidneys. Putting these together, we have inflammation of the kidneys. Let’s take a look at my favorite dictionary again, just to be certain.

Yep, there we have it at www.merriam-webster/dictionary/nephritis:

“acute or chronic inflammation of the kidney caused by infection, degenerative process, or vascular disease”

How do you define the whole term? According the excerpt from Nancy A. Finnigan and Khalid Bashir’s book Statpearls on NCBI’s bookshelf at https://bit.ly/31ZTeS2,

“Allergic interstitial nephritis (AIN) is the most common form of acute interstitial nephritis. It is most often caused by exposure to a drug. AIN is often associated with an acute decline in renal function and may be associated with permanent renal insufficiency.”

Acute? Oh, yes. That’s means sudden. It’s the opposite of chronic, which means long term. Looks like we only needed the second dictionary definition of interstitial after all.

So, this kind of nephritis is usually caused by drugs? Which drugs? I went to UpToDate at https://bit.ly/3i4exHS for the answer:

“The most common drug causes of AIN now include …:

  • Nonsteroidalanti-inflammatoryagents (NSAIDs), including selective cyclooxygenase (COX)-2 inhibitors
  • Penicillinsand cephalosporins
  • Rifampin
  • Antimicrobial sulfonamides, including trimethoprim-sulfamethoxazole
  • Ciprofloxacin and,perhaps toa lesser degree, other quinolones
  • Diuretics, including loop diuretics such as furosemide and bumetanide, and thiazide-type diuretics
  • Cimetidine (only rare cases have been described with other H-2 blockers such as ranitidine) [24,25]
  • Allopurinol
  • Proton pump inhibitors (PPIs) such as omeprazole and lansoprazole [26-29]
  • Indinavir
  • 5-aminosalicylates (eg, mesalamine)”

There are some very common drugs on this list. As Chronic Kidney Disease patients, we are warned away from NSAIDS. I’ve been warned about Ciprofloxacin, too, and PPIs, but diuretics? Most of the other drugs we’d have to ask our doctors about when and if they’re prescribed. Then again, I ask my family doctor to check the effect of the drug on the kidneys when she prescribes a drug. She happily does so.

You should note that many of these drugs do not require a prescription. In that case, speak with your pharmacist about its possible effect on your kidneys before buying any over the counter drug. Another possibility is using Drugs.com or a similar website for possible effects on your kidneys before using any drugs.

What are the symptoms, if any, of AIN? Well, much like Chronic Kidney Disease, there are often no symptoms until it is quite advanced. Then you would notice the acute drop in kidney function. A blood test and urine test will help with the diagnosis, although the urine test will only show the presence of white blood cells. That indicates an infection. Sometimes a kidney biopsy is required to diagnose AIN.

And now the biggie: what do you do if you develop AIN? You stop the medication. It’s common sense. Your doctor will probably suggest that once it’s been determined you have allergic interstitial nephritis. Remember though, there are other causes of AIN such as infections and/or autoimmunity.

Topic switch: While I’ve been laboring over this blog, I’ve also been thinking about the fact that today is Labor Day in the United States. Coming from a union family, I thought I’d tell you a little bit about Labor Day that you may not know.

This, and more information about Labor Day, may be found at https://bit.ly/3jPeaRR

“In the late 1800s, the state of labor was grim as U.S. workers toiled under bleak conditions: 12 or more hour workdays; hazardous work environments; meager pay. Children, some as young as 5, were often fixtures at plants and factories.

The dismal livelihoods fueled the formation of the country’s first labor unions, which began to organize strikes and protests and pushed employers for better hours and pay. Many of the rallies turned violent.

On Sept. 5, 1882 — a Tuesday — 10,000 workers took unpaid time off to march in a parade from City Hall to Union Square in New York City as a tribute to American workers. Organized by New York’s Central Labor Union, It [sic]was the country’s first unofficial Labor Day parade. Three years later, some city ordinances marked the first government recognition, and legislation soon followed in a number of states.”

As many of you already know, my grandfather was an organizer for the Brass Workers Union. Many a time he’d disappear. He was jailed for his activities, but that didn’t stop him.

As you labor to avoid AIN and keep your kidneys functioning properly, enjoy the holiday weekend.

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!

Two or More

Time for another reader question, but first, let’s pay attention to what day today is. Many people see today as the day for bar-b-ques or backyard ball games (or, at least, they did before Covid 19). When I married Bear a little more than seven years ago, he explained about Memorial Day. I knew it was to honor those who died protecting us, but it was so much more meaningful when explained by a veteran… someone who didn’t die protecting us and lived on to meet me and marry me. So give some quiet thoughts to these men and woman today, will you?

Now, the question. This reader has both lupus like immune mediated glomerular nephritis and Wegeners vasculitis with kidney involvement. Her question is how does she handle both?  And, here I thought I had it bad with pancreatic cancer (now gone), Chronic Kidney Disease, diabetes, and a whole host of what I consider lesser diseases!

Starting slowly is a must here since I am like a fish out of water with these two diseases. According to the MayoClinic at https://www.mayoclinic.org/diseases-conditions/granulomatosis-with-polyangiitis/symptoms-causes/syc-20351088,

”Granulomatosis with polyangiitis is an uncommon disorder that causes inflammation of the blood vessels in your nose, sinuses, throat, lungs and kidneys.

Formerly called Wegener’s granulomatosis, this condition is one of a group of blood vessel disorders called vasculitis. It slows blood flow to some of your organs. The affected tissues can develop areas of inflammation called granulomas, which can affect how these organs work.

Early diagnosis and treatment of granulomatosis with polyangiitis might lead to a full recovery. Without treatment, the condition can be fatal.”

Whoa! Not good. Let’s see how it’s treated. The Cleveland Clinic at https://my.clevelandclinic.org/health/diseases/4757-granulomatosis-with-polyangiitis-gpa-formerly-called-wegeners/management-and-treatment tells us,

“People with GPA who have critical organ system involvement are generally treated with corticosteroids [Gail here: commonly just called steroids] combined with another immunosuppressive medication such as cyclophosphamide (Cytoxan ®) or rituximab (Rituxan®). In patients who have less severe GPA, corticosteroids and methotrexate can be used initially. The goal of treatment is to stop all injury that is occurring as a result of GPA. If disease activity can be completely ‘turned off,’ this is called ‘remission.’ Once it is apparent that the disease is improving, doctors slowly reduce the corticosteroid dose and eventually hope to discontinue it completely. When cyclophosphamide is used, it is only given until the time of remission (usually around 3 to 6 months), after which time it is switched to another immunosuppressive agent, such as methotrexate, azathioprine (Imuran®), or mycophenolate mofetil (Cellcept®) to maintain remission. The treatment duration of the maintenance immunosuppressive medication may vary between individuals. In most instances, it is given for a minimum of 2 years before consideration is given to slowly reduce the dose toward discontinuation.”

Okay, got it. Now let’s take a look at lupus like immune mediated glomerular nephritis. MedicineNet at https://www.medicinenet.com/script/main/art.asp?articlekey=8064 reminds us about lupus:

Lupus: A chronic inflammatory disease that is caused by autoimmunity. Patients with lupus have in their blood unusual antibodies that are targeted against their own body tissues. Lupus can cause disease of the skin, heartlungs, kidneys, joints, and nervous system. The first symptom is a red (or dark), scaly rash on the nose and cheeks, often called a butterfly rash because of its distinctive shape. As inflammation continues, scar tissue may form, including keloid scarring in patients prone to keloid formation. The cause of lupus is unknown, although heredity, viruses, ultraviolet light, and drugs may all play a role. Lupus is more common in women than in men, and although it occurs in all ethnic groups, it is most common in people of African descent. Diagnosis is made through observation of symptoms, and through testing of the blood for signs of autoimmune activity. Early treatment is essential to prevent progression of the disease. A rheumatologist can provide treatment for lupus, and this treatment has two objectives: treating the difficult symptoms of the disease and treating the underlying autoimmune activity. It may include use of steroids [Gail here: Remember they’re used in treating this reader’s other disease, too.] and other anti-inflammatory agents, antidepressants and/or mood stabilizers, intravenous immunoglobulin, and, in cases in which lupus involves the internal organs, chemotherapy.

But our reader has lupus LIKE immune mediated glomerular nephritis, so she may need to deal with the symptoms, but not the treatment. Wikipedia at https://en.wikipedia.org/wiki/Immune-mediated_inflammatory_diseases informs us,

“An immune-mediated inflammatory disease (IMID) is any of a group of conditions or diseases that lack a definitive etiology, but which are characterized by common inflammatory pathways leading to inflammation, and which may result from, or be triggered by, a dysregulation of the normal immune response. All IMIDs can cause end organ damage, and are associated with increased morbidity and/or mortality.”

That’s as close as I could get to the definition of immune mediated.  We know that glomerular means of or about the glomerulus. Dictionary.com at https://www.dictionary.com/browse/glomerular helped me out here:

“Also called Malpighian tuft. a tuft of convoluted capillaries in the nephron of a kidney, functioning to remove certain substances from the blood before it flows into the convoluted tubule.”

And nephritis? After a decade of writing this blog, we probably all know that’s an inflammation of the nephrons.

Let’s combine the pieces to see what we get.  The nephron’s glomeruli are inflamed in the same way lupus inflames the organs. Remember that GPA also causes inflammation. (By the way, this is the perfect point in the blog to remind you I am not a doctor and have never claimed to be one.)

But how is it treated? Here’s where I admit defeat. There is quite a bit of information available on Lupus, Lupus Nephritis, and the like. But I could not find anything that includes ‘Lupus like.’

The commonality between the two diseases seems to be inflammation. But isn’t that at the root of all Chronic Kidney Disease? I admit to being surprised twice while writing this particular blog:

  • GPA was called by its older name by the doctor.
  • The dearth of treatment information for lupus like immune mediated glomerular nephritis.

Until next week,

Keep living your life!

I Never Knew

I’ve already mentioned that I read a lot while undergoing chemotherapy for my pancreatic cancer. I don’t have the energy for much else, although I do find my energy slowly increasing day by day. Often, I come across words or terms that are new to me as I read. One such term is ‘hypertensive nephrosclerosis.’ That’s a mouthful, so let’s start slowly.

‘Hypertensive’ is not a problem since we know that hyper means,

hyper– a prefix appearing in loanwords from Greek, where it meant “over,” usually implying excess or exaggeration (hyperbole); on this model used, especially as opposed to hypo-, in the formation of compound words (hyperthyroid).”

Thank you, Dictionary.com at https://www.dictionary.com/browse/hyper-. A little reminder: a prefix is a group of letters added at the beginning of a word which changes its meaning. Aren’t you glad I was an English teacher for over forty years?

You’ve probably already figured out that ‘tensive’ has to do with some kind of tension. According to Dictionary.com again, but this time at https://www.dictionary.com/browse/tensive?s=ts, it means,

adjective

stretching or straining”

That is a sort of tension, so you’re right. Add the prefix to the root word and suffix and you get ‘hypertension.’ Maybe a little grammar lesson would help here. A suffix is a group of letters added at the end of a word that change its meaning by expressing tendency, disposition, function, connection, etc. (By the way, some of this was taken from – yep – Dictionary.com again. This time at https://www.dictionary.com/browse/-ive?s=t.) What else? Oh, yes, ‘root.’ That’s the main part of the word; in this word, it’s tens. I know, I know, you didn’t come here for a grammar lesson.

Good thing ‘nephrosclerosis’ is a compound word. We know all about ‘nephro’ since it means kidney. And ‘sclerosis?’ That means hardening. This is a good point to mention this can be fatal. A former colleague recently died of sclerosis.

So ‘nephrolsclerosis’ is a hardening of the kidneys. Let’s check that out just to be sure. According to MedicineNet at https://www.medicinenet.com/script/main/art.asp?articlekey=4533:

 Nephrosclerosis: A progressive disease of the kidneys that results from sclerosis (hardening) of the small blood vessels in the kidneys. Nephrosclerosis is most commonly associated with hypertension or diabetes and can lead to kidney failure.

With me so far? Just one more step, let’s add ‘hypertensive’ to ‘nephrosclerosis.’ Emedicine at https://emedicine.medscape.com/article/244342-overview tells us,

“The term hypertensive nephrosclerosis has traditionally been used to describe a clinical syndrome characterized by long-term essential hypertension, hypertensive retinopathy, left ventricular hypertrophy, minimal proteinuria, and progressive renal insufficiency. Most cases are diagnosed based solely on clinical findings….”

Okay, let’s break down the definition of what we just added together to understand this term. You already know what ‘hypertension’ and ‘proteinuria’ are from reading my blogs. If you forgot, use the click throughs in the above definition. That leaves ‘hypertensive retinopathy’ and ‘left ventricular hypertrophy’ since we also know what ‘progressive renal insufficiency’ is.

‘Hypertensive retinopathy’ is summarized by DoveMed, a new site for me whose stated mission is

“We provide reliable unbiased medical information to healthcare consumers and providers by leveraging our unique ecosystem of world class products and services.”

at https://www.dovemed.com/article-synonyms/stage-4-hypertensive-retinopathy/ in this manner:

  • “Hypertensive Retinopathy (HR) refers to abnormal changes of the retina that is located in the back of the eye, due to chronic hypertension (high blood pressure)
  • The retinal arteries are autoregulated, meaning they can control their own shape based on changes in systemic blood pressure. However, at extremely high blood pressures, such as a blood pressure of 140/110 mmHg or over, they are unable to autoregulate. This can result in retinal complications
  • Depending on the severity of the signs and symptoms, Hypertensive Retinopathy can be classified to 4 stages – stage 1, 2, 3, and 4. Stage 1 Hypertensive Retinopathy has mild signs and symptoms, whereas Stage 4 Hypertensive Retinopathy has severe signs and symptoms
  • These changes typically occur in individuals who have had very high blood pressure for several years. The signs and symptoms of Hypertensive Retinopathy may include leakage of fats from the blood vessels, retinal edema (fluid in the retina), and swelling of the optic nerves
  • Some of the complications can include lack of oxygen delivered to the retina, as well as swelling of the macula and optic nerve that can result in the vision being affected
  • The treatment typically consists of controlling systemic hypertension with medications. Prognosis is generally good for individuals with stage 1 or 2 Hypertensive Retinopathy”

That leaves ‘left ventricular hypertrophy.’ Have no fear! The Mayo Clinic at https://www.mayoclinic.org/diseases-conditions/left-ventricular-hypertrophy/symptoms-causes/syc-20374314 is here to help us out:

“Left ventricular hypertrophy is enlargement and thickening (hypertrophy) of the walls of your heart’s main pumping chamber (left ventricle).

Left ventricular hypertrophy can develop in response to some factor — such as high blood pressure or a heart condition — that causes the left ventricle to work harder. As the workload increases, the muscle tissue in the chamber wall thickens, and sometimes the size of the chamber itself also increases. The enlarged heart muscle loses elasticity and eventually may fail to pump with as much force as needed.

Left ventricular hypertrophy is more common in people who have uncontrolled high blood pressure. But no matter what your blood pressure is, developing left ventricular hypertrophy puts you at higher risk of a heart attack and stroke.

Treating high blood pressure can help ease your symptoms and may reverse left ventricular hypertrophy.”

Adding all this information together, it’s clear that hypertensive blood pressure is going to do you no good in any way. So what do we do to avoid high blood pressure? That’s right! And the CDC backs you up. Take a look at https://www.cdc.gov/bloodpressure/prevent.htm.

“Prevent High Blood Pressure

….Eat a Healthy Diet

Choose healthy meal and snack options to help you avoid high blood pressure and its complications. Be sure to eat plenty of fresh fruits and vegetables.

Talk with your health care team about eating a variety of foods rich in potassium, fiber, and protein and lower in salt (sodium) and saturated fat. For many people, making these healthy changes can help keep blood pressure low and protect against heart disease and stroke.

The DASH (Dietary Approaches to Stop Hypertension) eating plan is a healthy diet plan with a proven record of helping people lower their blood pressure….

Visit the CDC’s Nutrition, Physical Activity, and Obesity website to learn more about healthy eating and nutrition.

Keep Yourself at a Healthy Weight

Having overweight or obesity increases your risk for high blood pressure. To determine whether your weight is in a healthy range, doctors often calculate your body mass index (BMI). If you know your weight and height, you can calculate your BMI at CDC’s Assessing Your Weight website. Doctors sometimes also use waist and hip measurements to assess body fat.

Talk with your health care team about ways to reach a healthy weight, including choosing healthy foods and getting regular physical activity.

Be Physically Active

Physical activity can help keep you at a healthy weight and lower your blood pressure. The Physical Activity Guidelines for Americans recommends that adults get at least 2 hours and 30 minutes of moderate-intensity exercise, such as brisk walking or bicycling, every week. That’s about 30 minutes a day, 5 days a week. Children and adolescents should get 1 hour of physical activity every day.

Visit the website for CDC’s Division of Nutrition, Physical Activity, and Obesity to learn about ways you can be physically active.

Do Not Smoke

Smoking raises your blood pressure and puts you at higher risk for heart attack and stroke. If you do not smoke, do not start. If you do smoke, quitting will lower your risk for heart disease. Your doctor can suggest ways to help you quit.

For more information about tobacco use and quitting, see CDC’s Smoking and Tobacco Use Web site.

Limit How Much Alcohol You Drink

Do not drink too much alcohol, which can raise your blood pressure. Men should have no more than 2 alcoholic drinks per day, and women should have no more than 1 alcoholic drink per day. Visit the CDC’s Alcohol and Public Health website for more information.

Get Enough Sleep

Getting enough sleep is important to your overall health, and enough sleep is part of keeping your heart and blood vessels healthy. Not getting enough sleep on a regular basis is linked to an increased risk of heart disease, high blood pressure, and stroke…. Visit CDC’s Sleep and Sleep Disorders website for resources on how to get better sleep.”

Until next week,

Keep living your life!

Dax’s Journey to Dialysis Friendly Clothing

I met Dax Francis a few years ago in a Facebook CKD & Dialysis Support page. Slowly, I became aware that he produces dialysis clothing… and that fascinated me. Then it dawned on me that you should know such clothing exists, although Dax is not the only one who produces them. I asked him if he would write a guest blog explaining how this all started and where he got the idea. He promptly agreed and that will be today’s blog, the first blog in March, National Kidney Month.

Before we read Dx’s blog, some of us may need a reminder of what FSGS is. According to The Mayo Clinic at https://www.mayoclinic.org/diseases-conditions/fsgs/symptoms-causes/syc-20354693:

“Focal segmental glomerulosclerosis (FSGS) is a disease in which scar tissue develops on the parts of the kidneys that filter waste from the blood (glomeruli). FSGS can be caused by a variety of conditions.

FSGS is a serious condition that can lead to kidney failure, for which the only treatment options are dialysis or kidney transplant. Treatment options for FSGS depend on the type you have.”

I think we’re ready for Dax’s guest blog now.

My name is Dax Francis. I was diagnosed with FSGS as a young man, age twelve, and it was as if overnight school, sports, and friends were replaced with doctors, hospitals, and treatments. I struggled to find my place in this new body that could no longer do the things that had defined my life. Shortly after I graduated from high school, I had to begin dialysis which set me down a dark path of loneliness, depression, and sadness.

When I began dialysis I wanted everything to end. This was not the life I had ever wanted, and I believed that all my abilities, my skills, and talents were hidden behind a treatment filled with pain. The strength it took to live in that struggle was too much, and I put myself in situations where everything could have and should have ended. I was lost, and then I got that call saying it was my turn for a kidney transplant.

This was it! This is my moment to start my life! And then FSGS recurred shortly after surgery, and I was never able to leave treatment.

Devastation, utter devastation. I could not let my donor down though and felt a need to try to pursue my life once more despite the struggle. I enrolled in school for Social Work. I wanted to use my experiences to help those who may be in similar situations as myself, and I found my calling. Being able to help others and learn from those with wholly different lives and experiences than mine was the greatest gift I could have ever been given.

As I had all but finished the Social Work program, I realized that I could not be the social worker that people deserved due to my health. Being on treatment three times a week made it difficult to find work, and I rarely felt well enough to continually work. I struggled with this, feeling like I was never going to have a way to be a part of the world and the community nor was a place for me or anyone like me. This fact made me feel worthless and I dropped out of college 6 credits shy of my degree, because I thought it was pointless.

I wandered, confused, and didn’t know how to be someone who could make a difference. The wisdom I had gained from fighting every day to survive, I felt, was something special and I just wanted someone to ask me what I had learned while living in the struggle that is chronic illness. I just wanted someone to take notice of my fight and my struggle and see the person who can make a difference because of it all.

After the passing of a close friend I needed to live for both of us and put myself out there where I met someone who changed my life. I met someone who saw my fight and helped me realize that all I had been through made me capable of so much. She believed in me when I couldn’t believe in myself, this enabled me to live a life that I had always dreamed of, and I was doing it all despite being on dialysis. I was able to meet the love of my life despite the struggle. It all started with putting my true self out there and not being afraid of being that true person sharing with light and love.

I enrolled back in school and finished my 6 credits finally achieving my degree. During this time the world began to change. More and more negativity seemed to be seeping into my life and I found myself in a negative space despite having everything I wanted. I needed to make a change. At the end of 2017 I committed to being positive, uplifting and to helping others the way I can. I started making videos while I was actually on dialysis just to let others know that they were not alone and that they needed to continue their fight.

The support I received from those first videos inspired me to do more with my talents and abilities and Ivye Wear was born on the morning of January 13, 2018. I wanted to provide comfort, warmth, and hope to the warriors fighting every day to survive, often with little recognition of the strength it takes to survive and live in that struggle. I wanted to provide a suit of armor for the warrior when they go into battle; whether it’s dialysis, chemotherapy, infusions, or something else entirely, and I designed comfortable, accessible clothing designed for a range of medical treatments, procedures, and devices. Sweats, Hoodies, and T-Shirts designed for warriors, by warriors. All of our clothes provide zipper access to the vital areas your caregivers need to perform treatment while you can stay warm and dignified.

I never want anyone to feel as if they don’t have a place in this world due to their illness or struggle, Ivye Wear was born to be a beacon of hope for all chronic illness patients. I believe that it is our experiences that give us the strength, wisdom, and patience to change the world.

Thank you, Dax, for your honesty and especially for the dialysis clothing.

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!

Get the Lead Out

In case you haven’t heard yet, my youngest and her husband are having a little boy at the end of the month. I’ve noticed that, as millennials, their generation shares what they already have instead of running out to buy new as my generation – the baby boomers – did. One thing that was shared with them was a 16 year old crib in ace condition.

I thought it was painted white and got nervous about lead in the paint until I did a little digging. Luckily, the anti-lead paint laws came into existence 41 years ago in 1978.

Then I started to wonder what sustained lead exposure could do to someone with Chronic Kidney Disease and turned to one of my favorite sites to find out. According to the National Kidney Foundation at https://www.kidney.org/atoz/content/lead-exposure-and-kidney-function,

“Having too much lead in your body can affect all the organs in your body, including the kidneys. When it affects your kidneys, medical experts call it ‘lead-related nephrotoxicity.’  (‘Nephro’ refers to your kidneys, and ‘toxicity’ refers to poison.’) Kidney damage from lead exposure is very uncommon in the United States.  In fact, most experts believe that kidney damage from lead is rare nowadays, especially in the United States and Europe.

It’s believed that lead exposure causes less than 1% of all cases of kidney failure.  It is usually related to jobs where workers are exposed to very high levels of lead, such as stained glass artists, metal smelters, and people who work in battery factories or remodel old homes. The low levels of lead found in drinking water, house paint, dirt, dust, or toys rarely causes kidney damage.

But if it does happen, it is usually only after many years of lead exposure (5 to 30 years).  Also, it is more likely to affect people who are already at risk for kidney disease, or those who already have kidney disease. In children, however, even mild exposure over many years can lead to health effects later in life, including kidney damage.”

Let’s say (Heaven forbid!) that you were among the “less than 1% of all cases of kidney failure” caused by lead exposure. How would you even know you had lead poisoning? The National Institute for Occupational Safety and Health (NIOSH), part of the Centers for Disease Control and Prevention (CDC) at  https://www.cdc.gov/niosh/topics/lead/health.html had an answer ready for us.

“Lead poisoning can happen if a person is exposed to very high levels of lead over a short period of time. When this happens, a person may feel:

  • Abdominal pain
  • Constipated
  • Tired
  • Headachy
  • Irritable
  • Loss of appetite
  • Memory loss
  • Pain or tingling in the hands and/or feet
  • Weak

Because these symptoms may occur slowly or may be caused by other things, lead poisoning can be easily overlooked. Exposure to high levels of lead may cause anemia, weakness, and kidney and brain damage. Very high lead exposure can cause death.

Lead can cross the placental barrier, which means pregnant women who are exposed to lead also expose their unborn child. Lead can damage a developing baby’s nervous system. Even low-level lead exposures in developing babies have been found to affect behavior and intelligence. Lead exposure can cause miscarriage, stillbirths, and infertility (in both men and women).

Generally, lead affects children more than it does adults. Children tend to show signs of severe lead toxicity at lower levels than adults. Lead poisoning has occurred in children whose parent(s) accidentally brought home lead dust on their clothing. Neurological effects and mental retardation have also occurred in children whose parent(s) may have job-related lead exposure.…”

Did you catch the mention of kidney disease? Now what? How is lead poisoning treated? Let’s see what another favorite site of mine, The Mayo Clinic at https://www.mayoclinic.org/diseases-conditions/lead-poisoning/diagnosis-treatment/drc-20354723   has to say:

“The first step in treating lead poisoning is to remove the source of the contamination. If you can’t remove lead from your environment, you might be able to reduce the likelihood that it will cause problems. For instance, sometimes it’s better to seal in rather than remove old lead paint. Your local health department can recommend ways to identify and reduce lead in your home and community. For children and adults with relatively low lead levels, simply avoiding exposure to lead might be enough to reduce blood lead levels.

Treating higher levels For more-severe cases, your doctor might recommend:

  • Chelation therapy. In this treatment, a medication given by mouth binds with the lead so that it’s excreted in urine. Chelation therapy might be recommended for children with a blood level of 45 mcg/dL or greater and adults with high blood levels of lead or symptoms of lead poisoning.
  • EDTA chelation therapy. Doctors treat adults with lead levels greater than 45 mcg/dL of blood and children who can’t tolerate the drug used in conventional chelation therapy most commonly with a chemical called calcium disodium ethylenediaminetetraacetic acid (EDTA). EDTA is given by injection.”

Is that safe for your kidneys? Uh-oh, according to WebMD at https://www.webmd.com/balance/guide/what-is-chelation-therapy, it may not be.

“When chelation therapy is used the right way and for the right reason, it can be safe. The most common side effect is burning in the area where you get the IV. You might also experience fever, headache, and nausea or vomiting. Chelating drugs can bind to and remove some metals your body needs, like calcium, copper, and zinc. This can lead to a deficiency in these important substances. Some people who’ve had chelation therapy also have low calcium levels in the blood and kidney damage.”

It looks like this is another case when you’ll have to present the information to your nephrologist and see what he or she advises in your particular case. If it’s a primary care doctor who is treating you for lead poisoning, be certain to tell him or her that you CKD.

Until next week,

Keep living your life!

How Will They Know?

Let’s start this month with a guest blog by American Medical Alert IDs. Why? Although I am not endorsing this particular brand, because I clearly remember being give Sulphur drugs in the Emergency Room when I was by myself and unable to let the medical staff there know I have Chronic Kidney Disease. Why? Because I remember that my husband fell when I was out of town. His grown children took him to the emergency room but didn’t know about his latex allergy and he was in no condition to explain.

 

Everything You Need To Know About Medical Alert IDs for Chronic Kidney Disease


Are you debating on getting a medical alert ID for chronic kidney disease? It’s time to take the confusion out of choosing and engraving a medical ID. This post will show you everything you need to know so you can enjoy the benefits of wearing one.

Why Kidney Patients Should Wear a Medical Alert ID

A medical ID serves as an effective tool to alert emergency staff of a patient’s special care needs, even when a person can’t speak for themselves. When every second counts, wearing a medical ID can help protect the kidney and safeguard its remaining function.

In emergencies, anyone diagnosed with chronic kidney disease or kidney failure may require special medical attention and monitoring. It is important that patients are able to communicate and identify their medical condition at all times. This includes individuals who are:

  • Undergoing in-center hemodialysis
  • Undergoing home hemodialysis
  • On Continuous Ambulatory Peritoneal Dialysis (CAPD)
  • On Continuous Cycling Peritoneal Dialysis (CCPD)
  • Transplant recipients
  • Diagnosed with diabetes

Delays in getting the proper treatment needed for chronic kidney disease may lead to the following complications:

  • Fatal levels of potassium or hyperkalemia. This condition can lead to dangerous, and possibly deadly, changes in the heart rhythm.
  • Increased risk of peritonitis or inflammation of the membranes of the abdominal wall and organs. Peritonitis is a life-threatening emergency that needs prompt medical treatment.
  • Anemia or decreased supply in red blood cells. Anemia can make a patient tired, weak, and short of breath.
  • Heart disease, heart attack, congestive heart failure, and stroke
  • High blood pressure which can cause further damage to the kidneys and negatively impact blood vessels, heart, and other organs in the body.
  • Fluid buildup in the body that can cause problems with the heart and lungs.

According to Medscape, the most common cause of sudden death in patients with ESRD is hyperkalemia, which often follows missed dialysis or dietary indiscretion. The most common cause of death overall in the dialysis population is cardiovascular disease; cardiovascular mortality is 10-20 times higher in dialysis patients than in the general population.

Kidney Patients Who Wear a Medical ID Have 62% Lower Risk of Renal Failure

In a study of 350 patients, primarily in CKD stages 2 through 5, those who wore a medical ID bracelet or necklace had a 62% lower risk of developing kidney failure, based on eGFR. Wearing a medical-alert bracelet or necklace was associated with a lower risk of developing kidney failure compared with usual care.

Wearing a medical ID can serve as a reminder to look after your health and make the right choices such as taking medication on time and sticking to proper diet.

6 Things to Engrave on Kidney Disease Medical ID

A custom engraved medical alert jewelry can hold precise information that is specific to the wearer’s health condition. Here are some of the most important items to put on a chronic kidney disease or kidney failure medical ID:

  • Name
  • Medical information – including if you have other medical conditions such as diabetes or high blood pressure
  • Stage of CKD or kidney function
  • Transplant information
  • Current list of medicines
  • Contact person

Some patients have a long list of medications that may not fit on the engraved part of an ID. An emergency wallet card is recommended to use for listing down your medicines and other information or medical history.

 

Click here to enlarge chronic kidney disease infographic

Do you wear or carry a form of medical identification with you? Please share your experience or tips with us by posting a comment.

Ready for a new topic? All right then. Ever have a problem drinking your coffee? I know I have… until I followed these tips from the Cleveland Clinic at https://health.clevelandclinic.org/coffee-giving-you-tummy-trouble-try-these-low-acid-options/:

Here’s hoping that next cup of coffee treats you well.

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!