The best Thalassemia blog

...is actually in Pakistan!

I’ve been conducting a search lately to find the best blogs on autosomal recessive genetic diseases. Naturally, there are many good websites for all of these diseases. All one has to do is look at Wikipedia to find a clearinghouse of research/awareness websites.

Blogging is a different animal though, and I’m still working on a comprehensive list of blogs for the Autosomal Recessive Disease Spectrum (ARDS). However, while you wait on that list to be fully populated, take a look at Thalassemia Free Pakistan. It is quite possibly the most active blog around dealing with the disease. Here’s why I like it:

1. They have a mission: The title itself tells you everything. Yet while it’s goal is to rid Pakistan of Thalassemia, the information contained on the blog can benefit anyone dealing with the disease.

2. It is well-organized: It is clean, sharp, and organized. I liked the layout of the blog and how the writing is put out to the audience.

3. They have a story: The original creator of the site (Mr. Salman Mehmood) passed away recently. This tells you two things about the story behind this blog. Number one is that they have a reason to fight against the disease because the creator suffered with it. Secondly, they now have a mission to keep it from killing anyone else. I hate to use the word martyr regarding a disease, but the fact is that a man who gives his life fighting to free an entire country of a disease is a cause almost anyone can get behind. Mr. Mehmood's sister, Ayesha (also a Thalassemia patient) now heads up the efforts at TFPak.

So, if you have happened by the Strides blog because you did a Google search on Thalassemia, then you are welcome to glean what you can from this blog, but may I happily point you in the direction of Thalassemia Free Pakistan? You’ll find so much more valuable information there. I would be remiss if I didn’t recommend it. And I heartily do!

A New Acronym: ARDS

I have written fairly extensively about diseases in the Autosomal Recessive Spectrum, of which cystic fibrosis is a member. I plan on continuing to write on occasion about the various problems encountered by those of us affected by the diseases contained in this spectrum because I believe we can learn from each other. Every one of the diseases has a small population base, which gives us yet another thing in common.

But honestly it gets a little odd to type Autosomal Recessive Disease Spectrum five times or so in an article about the spectrum of diseases, so from now on, you will undoubtedly see the acronym ARDS. I have done some searching on the internet and so far I haven’t found anyone who has anything better, or even another acronym at all, so I feel confident in that I can take the liberty to create one.

We all have a stake in our respective diseases. Why not take the stand together?

Spinal Muscular Atrophy

A few of the diseases in the Autosomal Recessive spectrum have really bothered me. Mostly this is because they significantly affect children and that hurts. Even with my faith in Christ, this is hard to swallow. From the SMA website:

Spinal Muscular Atrophy kills more babies than any other genetic disease.

There is no way that a person can read that and not be affected in some way, shape, or form. Here is the key symptom that causes the bulk of the pain:

-Degeneration and death of the motor neurons (also called Anterior Horn Cells) in the brain stem and spinal cord produces weakness in the muscles of swallowing, breathing, and limbs.

It is, thankfully, important to realize that not all patients die as infants, although the disease is the biggest killer. In fact, the founders of the Fight SMA organization have a young-adult son who has the disease. It depends on what type a person has. There are three:

Type I: The most severe and most lethal form. I took the following directly from the website: "Children with Type I SMA face a difficult battle. They are constantly at risk of respiratory infection and pneumonia. Feeding difficulties make it a real challenge for parents to give their children adequate nutrition and supplemental feedings may be required. Tubes placed through the nose or directly onto the stomach may be necessary. Recurrent respiratory problems usually result in death before two years of age. However, a small number of children with Type I SMA may survive into their teens or early adulthood."

This is really sad to me. I look around at all of the CF patients I know who are living into their adult years and to hear about how this disease still kills so early saddens me.

Type II: This is an intermediate form. Whereas in Type I many infants and toddlers die, Type II can be controlled in some ways, according to the website. Pnuemonia, a constant threat in Type I, is less of a threat for Type II, as an example. Children can often learn to sit under their own power, although walking is almost impossible due to the weakened muscles.

Type III: Many Type III patients remain undiagnosed for years! Unlike Type I and Type II, most are not diagnosed until the age of 5 or 10. Not that there's any such thing as an easy ride, but Type III is the least invasive of the three types.

This video is on the website's homepage. Be careful though. Watch only if you're ready to be emotional:




On Wikipedia's article on Autosomal Recessive Diseases, SMA was split into three different entries, thus there were ten diseases, not the eight we have in our Summer Knowledge Project. I see enough commonality to include them all in the same post. In fact, the Fight SMA website promotes them as three groups of one disease. I will fix this if it offends anyone with SMA, but for now I will conclude with one post on the three types.

Autosomal Recessive Polycystic Kidney Disease

One thing I’ve learned since starting the Summer Knowledge Project is that quite a few diseases exist that I have never heard of. It’s this ignorance on my part that I set out to reverse and I can now say that I’ve learned quite a bit about these diseases.

Today’s topic, Autosomal Recessive Polycystic Kidney Disease, is one of those diseases. Until I researched this, I had no idea what to make of it. The first thing I learned was that it affected 1 in 20,000 births. Here are some symptoms:

• Increased size of the collecting tubule in both kidneys (both kidneys are always affected).
• Increased urine output in children, due to the inability of the kidneys to regulate water retention.
• Progressive loss of kidney function.
• For children who were affected while in the womb, it can cause significant lung damage (the kidneys affect how much amniotic fluid is made, which in turn determines lung function).
• In children who live past the first month of life (roughly 70% of patients), kidney transplant is almost always required by the age of 10. 82% of those children will be alive by the time they reach the age of 10.

Both sexes and all races are affected equally. In some of our studies, we have learned that one race is affected more than another, but that has not been found in the case of ARPKD. This is good and bad, at least in my opinion. Knowing where a disease came from, and who it affects, seems to help figure out what it developed from, and I couldn’t find much information on this for ARPKD.

There are approximately 12.5 million people affected in some way by this disease in America. If you want to help, please go to the following website:

PKD Foundation

GoldBamboo.com

I stumbled onto the Gold Bamboo because I saw a link on my StatCounter, showing me that someone had come to this blog because of something on Gold Bamboo. I clicked the link, and sure enough, there was Strides To Cure Found! So cool, as a side note, to have that happen.

Low and behold, I typed in a few other of our Summer Knowledge Project topics and they too came up! This has been so rewarding so far, although I didn't need a third-party website to tell me that! We still have a few topics to go, so hang in there! Another one is coming soon!

Thalassemia

Like Sickle Cell, Thalassemia also causes anemia. Unlike Sickle Cell, which is a problem of hemoglobin quality, Thalassemia is a problem of quantity. In short, there is an underproduction of a globin chain, resulting in the anemic condition. I know...that was alot for me to swallow too!

Whereas Sickle Cell was found historically around on the African continent, the Indian Sub-continent, and parts of northern Middle East, Thalassemia extends all the way through the malaria belt through southeast Asia. If you look at the Berloni Foundation's website, you can see just how extensive Thalassemia's reach is.

Thalassemia protects against malaria, at least in part. Because the cells are degradable, they ironically don't carry malaria as well as healthy, normal blood cells. This is true for both Sickle Cell and Thalassemia.

Here's the kicker for Thalassemia...there are cases where a dominant defective gene caused the disease to take hold in an individual. Those of us familiar with the Autosomal Recessive spectrum will find that surprising, as the very word recessive should protect the offspring of only one carrier, but there are cases, however few, of one deffective gene causing the disease.

Thalassemia could become a major problem in the next 50 years. From the Wiki site on the topic: Countries such as India, Pakistan and Iran are seeing a large increase of thalassemia patients due to lack of genetic counseling and screening. There is growing concern that thalassemia may become a very serious problem in the next 50 years, one that will burden the world's blood bank supplies and the health system in general.

In certain types of the disease, there can be very serious complications, some of those complications even affecting the mother carrying a fetus with the disease. According to the Northern Comprehensive Thalassemia Center, in a fortunate few, a cure can be provided through a bone marrow transplant. However, in many cases, monthly transfusions are needed and the oldest person living with Thalassemia Major is in her 40's. There is still work to be done here.

I started this post thinking that Thalassemia is roughly the same as Sickle Cell Anemia. The research proved me wrong and I am grateful for the information. I hope that we, as fellow autosomal recessive carriers, will see progress made in this disease research.

Usher's Syndrome PT II

As promised, I wanted to briefly look again at Usher's Syndrome before moving on to the next disease in the Autosomal Recessive Disease Spectrum. The reason I delayed moving on is that I felt I needed two posts for Usher's in order to break up the basic overview and the three different types of the syndrome.

So, without further delay, here are the basics for each type, as well as the symptom:

Type I: Children with Type 1 Usher's are profoundly deaf at birth and receive practically zero assistance from hearing aids. This type of Usher's will also leave the child with significant vision problems by the time he/she is ten, many of whom will develop the sight problems earlier.

According to National Institute on Deafness and Other Communication Disorders, this type of Usher's also comes with significant balance issues. This makes sense, as unfortunate as it is, in light of the hearing loss it also spurs.

Type II: Although it makes sense that hearing loss equals at least some loss of balance in a patient with Usher's, that isn't always the case, as it the example of Type II Usher's, wherein the child is born with significant hearing loss, yet has little or no balance issues. Also unlike Type I, Type II doesn't result in sight problems until later in the teen years and patients can also benefit from hearing aids.

Type III: Breaking away from the other two types of Usher's, Type III doesn't manifest itself as a hearing problem at birth. In addition, the person is not usually legally blind until adulthood. As such, the patient has additional time to prepare and learn techniques that can help them later on in life.

As I've said before, I don't plan to make dissertations out of the Summer Knowledge Project. However, it is my hope that we can all benefit from the additional knowledge, whether we know someone who suffers from these diseases or not.

Usher's Syndrome PT I

Like Alpers Syndrome, which I wrote about last week, Usher Syndrome has many components. In fact, there's a little vocabulary for those of you who are like me and didn't know what constituted a “syndrome”. A syndrome is a disease or disorder that has more than one symptom. I give full credit to this website for teaching me that fact. So we know, just by the name, that Usher Syndrome has many components. It affects, for example, hearing and eyesight. I'm going to admit now that there is a lot of information for Usher Syndrome, and therefore I will be breaking it into two posts. Because I learned this week that there are actually three types of Usher, I will report on the differences in the three later this week as well as treatments for the condition.

As mentioned above, Usher Syndrome affects the patient's sight and hearing. Approximately 3-6% of children who are deaf have Usher Syndrome, and another 3-6% of children who are hard of hearing have Usher. Approximately 4 in 100,000 babies born in the US have the disorder.

To make plain the reality those who suffer with Usher Syndrome face, there is no cure for the disease. This brings it in line with all of the Autosomal Recessive Diseases. Currently, the best a person can hope for is to find it early so that education programs can begin immediately to help a person adjust to the syndrome.

Another thing that Usher Syndrome has with all other Autosomal Recessive patients is that the vast majority of their parents didn't know they were carriers of the recessive disease before they were born.

Usher is diagnosed from specialized audio and vision tests and not usually as the result of a blood test. Although nine genes that cause the defect have been located, the norm for all current diagnosis is via these vision and hearing tests. For those of us who are familiar with cystic fibrosis, this is somewhat reminiscent of the sweat tests to confirm CF despite the availability and use of blood tests.

Again, because this topic is so large, I will deal with treatments of the disease in the second post this week when I discuss the differences between the three types of Usher Syndrome.

Alpers Syndrome

Alpers only happens, by estimate, in 1 of 250,000 live births, which I'm grateful for, but it is also a quick and heartless killer. Those affected will die usually before they turn the age of 10. Unlike cystic fibrosis, where researchers have developed a wide array of treatments, the only thing doctors and parents of an Alpers patient can do is treat the various symptoms, which include:

-Seizures, which in Alpers patients are hard to treat and at times nearly impossible to stop.
-Episodic psychomotor regression or dementia (loss of developmental milestones)
-Liver disease
-Blindness and deafness can occur as well

One of the saddest things about this disease, and a few others like it, is that the symptoms don't show up immediately. In fact, the child begins to develop as other children do and then regresses, hence the loss of developmental milestones.

This disease is ruthless. According to one website, it can show the liver disease component as a sub-clinical issue for the majority of the time and then escalate into full-blown liver failure in almost no time at all. It is the liver disease/failure which often kills the patient.

I find it frightfully amazing just what happens in the cell structure of Autosomal Recessive disease patients. With each bit of research I do during this Summer Knowledge Project, I learn just a little more about how the body works. For example, most of us have heard about mitochondria in our studies once upon a time. Mitochondria form part of the basic cell structure and honestly I don't really remember much else.

Yet in the case of Alpers Syndrome, it is not directly the mitochondria that are the problem, but a gene called the POLGI 1, whose job it is to correctly copy the mitochondria. When this doesn't take place, the levels of mitochondria drop to devastating levels, causing them to become “sick” and resulting in misfiring mitochondria. This leads to brain and liver failure.

I'm simply awestruck by this disease. On one hand, our bodies seem so capable of healing, so able to bounce back from a fall. Entire bones can heal over time and cell tissue can repair itself if the damage isn't too great. Yet a single, seemingly simple, gene defect and the body dies. Sometimes it's too much to grasp. I can only imagine what it means for someone to have to go through this.

Because the prognosis for Alpers is so horrifying, I hesitate to write about it at all. After all, one of the key issues we talk about on this blog is hope. Hope is a hard thing to suggest when there are almost zero treatments for someone with Alpers. I shudder to think of meeting someone who has lost a loved-one to this disease, but one thing I know is that the Person I place my hope in is the same no matter what any of us have to experience.

Sickle Cell PT II

As I read through my post on Sickle Cell, I realized that it didn't really fulfill the intent of the Summer Knowledge Project...namely, to give the casual reader information about the disease. I gave some information on how it works genetically, but really, I need to follow up on it. Because of that, I submit to you Sickle Cell PT II:

According to the US Department of Health and Human Services, the following constitute the basic symptoms of Sickle Cell:

• Fatigue
  
• Shortness of breath
• Dizziness
• Headache
• Coldness in the hands and feet
• Pale skin
• Chest pain

Of which Fatigue is the most common. Sickle Cell Anemia causes fatigue because of a lack of red blood cells, according to the Mayo Clinic. As sickle cells die after only about a tenth of the normal red blood cell lifespan, the body is left without an ample amount of blood in the circulatory system. These symptoms may show up as early as the 4th month of life in newborns.

The final question I hadn't addressed is lifespan, and I didn't address it because that is an unfortunately vague issue within Sickle Cell Anemia, as far as my research has shown. I remember a few years ago that a University of Missouri football player died during practice from complications with Sickle Cell disease. In fact, there have been a number of fatalities due to Sickle Cell in sports. However, according to Dr. Spock, there's is a great chance of living well into adulthood for those with the trait.

I'm glad I went back to research this again, because despite the problems associated with this issue, Sickle Cell has a lot of hope to offer us who have loved-ones suffering from other Autosomal Recessive Diseases.

Sickle Cell Anemia

When I was in middle school back in Kansas, I had a friend who had Sickle Cell Anemia. I never knew much about it back then and he moved shortly after our 7^th grade year. We lost touch and so did I with the Sickle Cell trait. In fact, I to this day don't know anyone who has Sickle Cell. Yet I've become reintroduced to it through my research on Autosomal Recessive Diseases. So in memory of my buddy from long ago in Kansas, I present this research to you.

Sickle Cell Anemia is caused the same way cystic fibrosis is caused...by passing on defective genes from two carriers. As with other Autosomal Recessive Diseases, there is no other way to get this disease. It's not something that can be “caught”. In fact, just like the rest of this spectrum, you couldn't get infected with Sickle Cell Anemia even if you wanted to...not that you'd want to.

But speaking of which, some theorists have presented a reason that, at least as far as adaptation and evolution are concerned, Sickle Cell was the body's response to a bigger problem: Malaria. I don't believe in evolution in the grand scheme of things. I don't see how it could explain things better to me than having faith that God created everything, but the fact is, our bodies have changed somewhat over time. We have different skin tones, different heights and builds, etc, depending on where we are from. According to one theory, Sickle Cell Anemia developed as a result of the ancient spread of Malaria. If you look at the Wikipedia article on the disease, you can see how this hypothesis makes sense, at least on the surface. While malaria is not a threat to humans in North America, we have the traits present with us because of various forms of immigration.

There are theories on the other autosomal recessive diseases as well. If this truly does point to a form of evolution, and this is only the form referred to as adaptation, then it would show that there is no silver bullet for our body physiology. The give and take of Sickle Cell is rough, exchanging whatever benefit regarding malaria for a life of trouble with the disease of Sickle Cell. There's no arguing it though, because it's already here, and our efforts would be better served by focusing on better treatments and a cure.

Like many of the autosomal diseases, there is no cure yet for Sickle Cell Anemia. However, there are many treatments available to those who have the disease. These are promising and aid in giving long life to those who suffer from the disease.

If you want to help out with Sickle Cell, please visit the American Sickle Cell Anemia Association website and see where you can help today!

The greatest thing about this website, aside from the fact that this organization helps with those suffering from Sickle Cell Anemia, is it's comprehensive list of what most states test for in newborn screenings. This was so awesome to find. Go HERE to see the list.

Tay-Sachs Disease

Tay-Sachs Disease (TSD) is named for two different doctors. The first, Dr. Warren Tay, discovered a red dot on the eye of infected patients, which was the first time a way to diagnose the disease came about. Considering that this was in 1881, and blood tests were minimal at the time. Dr. Tay's discovery was vital to learning about what would eventually be named for him. Six years later, Dr. Bernard Sachs was the first to describe how the disease worked and also that it was more prevalent in those of Ashkenazi Jewish decent.

This is an extremely rare disease. It is so rare that even the rare cystic fibrosis, which I am unfortunately very familiar with, is considered much more widespread. Sadly enough, Tay Sachs also claims the life of its victim sooner, approximately at the age of 4 or 5. My daughter is three and a half years old, so this hits home.

We all owe a debt of gratitude to those who worked with Tay Sachs disease because they were the first to discover a simple blood test that could quickly and inexpensively detect the disease on a wide-scale. It therefore became the model for how other diseases in the spectrum could be detected using blood screening. Again, I find myself in awe as Samantha was diagnosed, not by her symptoms, but by a blood test.

Because it is so rare, Tay-Sachs, especially in the Cajun population of North America, has been traced back to an original founder family, a term used to denote the original carrier in a given population. This was fascinating to me as it showed how a disease can travel based on reproduction. You can find out more on that by going to Wikipedia, my favorite online encyclopedia.

There is no cure for TSD. However, because of the widespread availability of the test that detects the trait, occurrences of the disease, which were already rare, are down 90% in the Ashkenazi Jewish population. In fact, it might be possible, through screening, to essentially eliminate the disease altogether, although as a recessive trait, it will be hard to detect every single carrier.

Unfortunately, abortion at times becomes a way to eliminate the spread of this genetic disease, as couples who find that they both have the trait terminate a pregnancy if the fetus (at ten weeks) is discovered to have the disease. It doesn't matter how I feel about this since TSD isn't the disease that directly affects my family. It still hurts to think that a couple might abort their child for this reason. I know that Sam is undoubtedly going to face a transplant someday for her diseased lungs, and that she will, according to the law of averages, die before I do. And furthermore, I know that I am not in the shoes of someone who knows that they are about to have a baby affected by TSD. I accept all of that. Yet abortion, no matter the circumstances, presents me with a devastating ethical problem. It is not the goal of this blog to deal with the ethical issues such as this, so I'll move on.

I will always be eternally grateful for the advances in medicine that researching this disease gave us...they helped us immensely by breaking ground on blood testing. Were it not for those researching TSD, we might have had to wait painfully while doctors worked to discover what was causing Samantha's problems.

There are some options to help cure TSD in the works, which would theoretically rid us of the problem for good. Of those, the one that most fascinates me, because it is the theory cystic fibrosis researchers are striving to prove for the disease affecting my daughter, is gene therapy. I love the thought of this breakthrough and pray for it.

With gene therapy, researchers are essentially trying to find a way to “replace” the bad genes with good ones. Since the spectrum of diseases in question are all recessive, only one gene would need to be replaced in order to correct the problem. Unfortunately, gene therapy for any of the diseases in our SKP series are years away. Yet we hope and pray that it comes to pass.

I found this blog about a little girl with Tay-Sachs. It really is a disheartening disease, so don't read if you're not ready. If you want to be involved in the fight against Tay Sachs Disease, please visit the Cure Tay-Sachs Foundation today!

Autosomal Recessive Disease at a Glance

Welcome to the first issue of our Summer Knowledge Project! Since I will be covering, for the most part, the Autosomal Recessive Diseases this summer, I thought I would start with an overview. Next week we'll start the actual disease series with Tay-Sachs.

Recessive, in the case of genetic disorders, means that if a good gene exists, the good gene wins and the person does not have the disease. I know how this works firsthand because I am a carrier of the cystic fibrosis mutation Delta f508. Because I don't have two of these defective genes, or rather because one of the genes from my parents was a good gene, I don't have cystic fibrosis. The same holds true for any of these diseases. Because our daughter got a recessive gene from both my wife and myself (in her case she got Delta f508 from both of us), she has no good gene to be dominant. She has cystic fibrosis.

Because I have no known examples in my family of cystic fibrosis, and because Alicia's experiences in her family are fairly removed from her, it was a complete surprise to find out that our daughter had this disease. This is often the case. Since it only takes one good gene for a person to “be ok”, suddenly having a disease show up is a shock. This is how there are only roughly 30,000 cases of CF in America and yet there is an estimated 10 million carriers. In fact, it is a general rule that Autosomal Recessive Diseases are rare.

One of the easiest ways to understand Autosomal Recessive diseases is to view Gregor Mendel's drawings on how genetic codes are passed from parents to offspring. The Wikipedia entry shows the red/white combination wherein Red is a dominant color, and White is the recessive color. In the case of Autosomal Recessive diseases, white represents the defective gene. As you can see by the chart, each couple, when they both have the recessive gene present, have a 25% chance of passing the trait on to their offspring.

Parents of children with an Autosomal Recessive Disease are both automatically at level 2 in the chart. This is evidenced by the fact that they must have had a defective gene in order to produce a child with the disease, yet each also have one good gene, which keeps them from being anything more than carriers. I don't mean to get too technical here. It's important for the discussions that will follow, however, to have this background. The bottom line is that someone dealing with a Autosomal Recessive Disease is someone who needs your care, concern, and prayers.

My goal is not to drag us down in the knowledge of all things that can kill us and our children. Yet it is a simple fact that knowledge is the first weapon in knowing how to handle a disease. So if you know someone with the following diseases, take a few moments to learn as much as you can about your loved-one's condition and please, help whenever you can.

Here are the 10 diseases we'll cover over the next several weeks:
Alpers Syndrome
Autosomal Recessive Polycystic Kidney Disease
Cystic Fibrosis
Sickle Cell Anemia
Spinal Muscular Atrophy type I
Spinal Muscular Atrophy type II
Spinal Muscular Atrophy type III
Tay Sachs
Thalassemia
Usher Syndrome

The Summer Knowledge Project

Well, my wife and I recently celebrated the official close of our fundraising season (at least the official close of Team Sam's fundraising season). This doesn't mean that we're totally done, but as another blogger friend suggested, we are going to take a bit of a break. And because of that, I'm going to take a few posts to talk about some other subjects that are dear to me. Some of them might be a bit random, but the following ten topics are what I call the Summer Knowledge Project.

As I promised in my post at the beginning of the year, my goal was to learn about 12 diseases this year...one per month. Well, I've slacked a little, but I have an idea...I'm going to make it a summer project to learn about the ten diseases that make up the autosomal recessive disease spectrum.

It is my hope that you will grow from this study as I do. So, for reference, these are the topics we'll be learning about:

Alpers Syndrome
Autosomal Recessive Polycystic Kidney Disease
Cystic Fibrosis
Sickle Cell Anemia
Spinal Muscular Atrophy type I
Spinal Muscular Atrophy type II
Spinal Muscular Atrophy type III
Tay Sachs
Thalassemia
Usher Syndrome

I don't expect to go so in depth that I end up working toward a doctorate in biological sciences. There are many websites and books that can help with that, some of which I will reference. I simply want to give brief overviews on the topics so that we can begin to learn more about diseases that come about the same way that cystic fibrosis did for my family.

If you happen to be reading this blog and at some point realize that you know someone who suffers from one of these autosomal recessive diseases, or if you are a person who suffers from one of the diseases in this spectrum, please comment and let us know! And more importantly, know that we are thinking about you and praying for you!