Understanding how to treat Wilson's Disease is the key. The rest of the book discusses management and treatment. The last chapter discusses the history and future of Wilson's. That was my favorite part to read. I had no idea how recent testing and treatment had been made available. It was definitely a bitter-sweet moment when I realized that if my oldest son would have had Wilson's Disease (being born in 1996), the specific genetic test that ulitimately diagnosed my daughter would not have been available!!
Chapter 5 explains management and what is important and what is not. This chapter answered a lot of questions for me. He suggests that "a low copper diet" is not necessary...especially after patient is on anticopper drugs. He also cautions that drinking water is actually more of a risk, particularly during the initial therapy. How does the doctor choose the drug? This chapter answers that question. What about monitoring? That is also answered. He covers diet and how there are only two things that he cautions patients about: liver and shellfish. He explains that "we have remeasured the copper level in most of the important foods, and find that the content of copper in foods listed in previous tables were too high..." I thought that was quite interesting. He suggests testing your drinking water and if the copper level is more than 0.1 PPM (parts per million) then getting a filter or finding alternative water sources. Unfortunately, in our area the copper level in our water is above the recommended level for my daughter so we got a Brita filter. FYI: Brita filters (the ones that mount on the faucet) DO filter copper.
Chapter 6 discusses the treatment of patients with liver disease. This is the type my daughter could have had if she were not treated, and so I was especially curious to read about the types of symptoms to look out for and laboratory results that pertain to this manifestation of WD. He goes over liver transplant and that was quite scary for me to read. He stresses that doctors should NOT do a liver transplant as long as medical therapy is doing the job. He DOES explain when liver transplant SHOULD be done and even offers a recommended anticopper therapy for those patients awaiting a liver transplant.
Chapter 7 covers treatment of patients with neurologic and/or psychiatric disease. He cautions doctors against using penicillamine therapy for these type of patients. He says that symptoms will actually get worse in about 50% of patients.... and worse yet, the risk of permanent worsening is about 25%! Dr. Brewer suggests using Tetrathiomolybdate for these patients and explains in depth why.
Chapter 8 discusses maintenance therapy. Maintenance therapy is what happens after you get rid of the copper toxicity and continues for the rest of the patient's life. He covers the objectives and methods of maintenance therapy. Dr. Brewer definitely prefers zinc therapy and explains in detail all about it. He offers graphs and lots of information that support his findings. This chapter is perfect for any patient who wants to know how zinc works and how to monitor it throughout his/her lifetime.
Chapter 9 was the chapter that I anticipated the most. It covers the therapy for presymptomatic, pediatric, and pregnant patients. Since my daughter is a pediatric patient and will one day (hopefully) want to have children, I anxiously read through this chapter hopeful that she would have the opportunity to bear children. According to Dr. Brewer there is hope for my daughter. He emphasizes the need to continue anticopper therapy throughout the pregnancy and that with the zinc acetate there is less risk of teratogenic (disruptive to the development)effect on the fetus than penicillamine (which used to be the only choice for patients). This is something that she will definitely have to prayerfully decide. According to Dr. Brewer zinc is the safest of all the drugs. The biggest danger is the mother deciding to halt her medication out of fear of harm to her unborn.... that would definitely be tragic.
In Chapter 10 Dr. Brewer discusses the risk factors during maintenance therapy and the prognosis of Wilson's patients. The biggest risk, believe it or not, is POOR COMPLIANCE! This is especially true in younger patients and/or asymptomatic ones. He says, "It is always shocking to me that compliance is not almost perfect in this disease, given the availability of an effective, oral, non-toxic medication, such as zinc, and given the severity of the alternative." That basically sums it up. However, he goes over some of the things that CAN happen to patients when certain symptoms do not improve and how accidents can be another issue. This is especially true in patients with neuroligical symptoms. For example, a patient with severe depression might commit suicide. That is something that doctors need to be aware of. His final sentence in this chapter is my favorite one: "The bottom line that should be conveyed is thta if you're going to have a genetic disease, this is a good one to have because it is so treatable."
Chapter 11 covers the disease pathogenesis and genetics. Although I HATE what this disease does, I have to admit that the genetics and the disease itself is rather fascinating. I never realized how important copper truly was until I had to read all about it. Why don't doctors test it more often? That is definitely a question to ask. There are still many things we do not know about the genetic defect of the ATP7B gene and how many mutations there are. According to this chapter, over 170 mutations have now been described!! There is an interesting table that shows the mutations in various populations. It is suggested that depending on the mutation that determines the age of onset of the disease and how it manifests itself. Perhaps one day they will be able to find a way to test for that. I am sure it is not too far in the future.
Chapter 12 discusses disease pathology. This chapter answers the question of how excess copper causes damage to cells and organs. This is the chapter that will enlighten you to how important copper is and why too much and not good. This explains why the liver is the primary organ that is affected. The next organ that usually affected is the brain since it is the next most sensitive organ. He discusses the female reproductive system, skeletal system, kidneys, eyes, and heart. It is important to note that Dr. Brewer states: "In the past, the disease was likely more advanced when diagnosed. This probably accounts for many of the pathological and clinical differences reported in the past compared to more modern experience. Today we almost never see the kinds of renal, skeletal, and cardiac abnormalities that were commonly reported two or three decades ago."
The final chapter is one that covers the history and milestones of Wilson's Disease. It is interesting to see how the discovery of the disease came about. It all started with Dr. Wilson who saw several patients with liver disease and then Kayser and Fleischer observed corneal copper deposits in the eyes of another group of patients. All of this happened in the early 1900's. Eventually the copper connection was made and the disease was discovered. It is interesting to note that in 1977 Dr. Brewer observed that zinc therapy in sickle cell anemia produced copper deficiency. This is what led to the idea of using zinc for therapy. It wasn't until 1993 that the genetic cause of Wilson's was discovered. In 1997 zinc therapy was finally approved by the FDA. One thing that was interesting to note was that just because a patient has the harmful mutation of the ATP7B gene, that doesn't mean that the person will reach the full penetrance of the clinical disorder. Therefore it is not ever 100%. Some patients might actually have a milder expression of the gene. Dr. Brewer also mentions that he had two patients who were vegetarians and adequately controlled the disease. He says that the mechanism of this is that copper is less thoroughly absorbed from vegetable foods than from meat. He cautions that he does not recommend a vegetarian diet as a therapeutic approach because it may not work in some patients. His main point is that diet can be a factor in age of onset and other manifestations.
The most important part of the book is the challenges that Dr. Brewer expresses. He basically says that if a doctor doesn't even consider Wilson's in a patient then it won't be diagnosed. If it isn't diagnosed then it won't be treated. If a patient is not treated.... the end is not good. However, the future looks bright. There are already new and better treatment options. The screening methods are improving. I know that there will be advancements in the field of genetics that will help with testing and screening. As we better understand the role of ATP7B in regulating copper then we can better understand how mutation of this gene intereferes with this function. That will ultimately lead to more patients being diagnosed and less ending up with tragic endings.
***********************************
The future definitely looks bright!
***********************************
Sunday, July 26, 2009
Sunday, July 19, 2009
The Wilson's Disease "Bible" (Part I)
I accidentally came across a book while doing my research one night. The site I found actually had some excerpts from it and so I was able to read them and was excited about what I had found. The book is entitled: Wilson's Disease: A Clinician's Guide to Recognition, Diagnosis, and Management. The author is George J. Brewer. If you remember, I discovered him recently and found him to be a dedicated doctor who has treated hundreds of WD patients.
My husband recently found it online for a fair price and so we purchased it. Initially I was hesitant because it is a rather expensive book and it IS intended for physicians. However, considering my background in medicine AND my history with doctors and treatment for my daughter, I thought it would be an invaluable investment. This is a book I intend to keep on my bookshelf for a very long time. I just wish ALL doctors did too. It is written so plain and simple and I devoured every word the first chance I got. I read the book from cover to cover in one night. I was so excited about the information and the optimism Dr. Brewer has. He wants doctors AND patients alike to know that a Wilson's diagnosis doesn't mean the end.... it's just the beginning. It is critical that patients receive treatment right away! Asymptomatic patients can't wait for symptoms before doing something. The following information is from the book and I am so excited to share some of what I learned.
The one thing that I was impressed with about the book is the format in which it was written. It doesn't waste your time at all! The first chapter informs doctors about what chapters to read depending on the circumstances of the patient they are inquiring about. It has possible situations and the recommendations. The first chapter basically explains the cause of Wilson's and how it is acquired. It explains the clinical manifestations and ways to recognize it. The last part I was really excited about was the prognosis. Dr. Brewer explains that "it is unfortunate to have a genetic disease, but if you're going to have one, Wilson's is a good one to have, because it is so treatable." Those words have echoed in my mind ever since I read them.
The second chapter explains something that is sooooo critical. He discusses the challenge of recognizing Wilson's. Early recognition is what saves lives. It is the difference between leading a normal life or ending up with serious neurological symptoms or liver failure. Since WD only occurs in approximately 1 in 40,000 births that means that most doctors will not see a diagnosed case in their entire career. The main thing I learned from this chapter is that there are many ways WD can manifest itself. It can be neurological symptoms, hepatic, or behavioral changes. I had heard of the neurological symptoms and liver symptoms, but the behavioral changes was something I had not read much about. Among these symptoms are: difficulties in school or work, temper tantrums, anger, bouts of crying, depression, loss of inhibitions, insomnia, and hallucinations. Dr. Brewer also discusses unusual situations that may present or precede the usual clinical manifestations of WD. I can only imagine all the people who are put on medicines or even institutionalized wrongly! One thing that REALLY impressed in my mind were the various examples he gives of disasters or near disasters caused by patients being misdiagnosed. That part brought me to tears.
Chapter 3 is filled with invaluable information regarding the screening and diagnosis of Wilson's. There are many tests that are underutilized and yet others that give false positives or false negatives. It's so important for doctors to know how to interpret laboratory results they order. They need to understand that some tests are just "screening tools" while others may give more definitive answers. Since WD can present itself in so many ways that means that laboratory tests will also present itself in many different ways for various patients. He discusses the presymptomatic patient as well in this chapter. These are the most difficult to diagnose. It is important for doctors to screen ALL family members who are at high risk once a diagnosis is made.
Chapter 4 was a VERY interesting one for me to read. It talks about the anticopper drugs available to treat Wilson's. He goes over each and every one of them and discusses the pros and cons for each one. He goes over the mechanism of how each works and explains how long it takes for each to work and how they can be monitored. That is something that is critical during the "maintenance" phase of treatment. He carefully discusses how to test the patient to ensure that they are taking their medication. Noncompliance is definitely an issue, especially with asymptomatic patients since they don't realize how sick they can become. If you are not on ANY treatment and you have been diagnosed with Wilson's Disease then PLEASE take my advice and discuss treatment options with your doctor. There are various medicines and treatment options for you!
**********************************
(To be continued.....)
**********************************
My husband recently found it online for a fair price and so we purchased it. Initially I was hesitant because it is a rather expensive book and it IS intended for physicians. However, considering my background in medicine AND my history with doctors and treatment for my daughter, I thought it would be an invaluable investment. This is a book I intend to keep on my bookshelf for a very long time. I just wish ALL doctors did too. It is written so plain and simple and I devoured every word the first chance I got. I read the book from cover to cover in one night. I was so excited about the information and the optimism Dr. Brewer has. He wants doctors AND patients alike to know that a Wilson's diagnosis doesn't mean the end.... it's just the beginning. It is critical that patients receive treatment right away! Asymptomatic patients can't wait for symptoms before doing something. The following information is from the book and I am so excited to share some of what I learned.
The one thing that I was impressed with about the book is the format in which it was written. It doesn't waste your time at all! The first chapter informs doctors about what chapters to read depending on the circumstances of the patient they are inquiring about. It has possible situations and the recommendations. The first chapter basically explains the cause of Wilson's and how it is acquired. It explains the clinical manifestations and ways to recognize it. The last part I was really excited about was the prognosis. Dr. Brewer explains that "it is unfortunate to have a genetic disease, but if you're going to have one, Wilson's is a good one to have, because it is so treatable." Those words have echoed in my mind ever since I read them.
The second chapter explains something that is sooooo critical. He discusses the challenge of recognizing Wilson's. Early recognition is what saves lives. It is the difference between leading a normal life or ending up with serious neurological symptoms or liver failure. Since WD only occurs in approximately 1 in 40,000 births that means that most doctors will not see a diagnosed case in their entire career. The main thing I learned from this chapter is that there are many ways WD can manifest itself. It can be neurological symptoms, hepatic, or behavioral changes. I had heard of the neurological symptoms and liver symptoms, but the behavioral changes was something I had not read much about. Among these symptoms are: difficulties in school or work, temper tantrums, anger, bouts of crying, depression, loss of inhibitions, insomnia, and hallucinations. Dr. Brewer also discusses unusual situations that may present or precede the usual clinical manifestations of WD. I can only imagine all the people who are put on medicines or even institutionalized wrongly! One thing that REALLY impressed in my mind were the various examples he gives of disasters or near disasters caused by patients being misdiagnosed. That part brought me to tears.
Chapter 3 is filled with invaluable information regarding the screening and diagnosis of Wilson's. There are many tests that are underutilized and yet others that give false positives or false negatives. It's so important for doctors to know how to interpret laboratory results they order. They need to understand that some tests are just "screening tools" while others may give more definitive answers. Since WD can present itself in so many ways that means that laboratory tests will also present itself in many different ways for various patients. He discusses the presymptomatic patient as well in this chapter. These are the most difficult to diagnose. It is important for doctors to screen ALL family members who are at high risk once a diagnosis is made.
Chapter 4 was a VERY interesting one for me to read. It talks about the anticopper drugs available to treat Wilson's. He goes over each and every one of them and discusses the pros and cons for each one. He goes over the mechanism of how each works and explains how long it takes for each to work and how they can be monitored. That is something that is critical during the "maintenance" phase of treatment. He carefully discusses how to test the patient to ensure that they are taking their medication. Noncompliance is definitely an issue, especially with asymptomatic patients since they don't realize how sick they can become. If you are not on ANY treatment and you have been diagnosed with Wilson's Disease then PLEASE take my advice and discuss treatment options with your doctor. There are various medicines and treatment options for you!
**********************************
(To be continued.....)
**********************************
Tuesday, July 14, 2009
Beyond Chance (Part II)
We saw a team of doctors who expressed an interest in my daughter's case. I felt good about the whole experience and felt that she was in the best possible hands. How could I not? Well.... to make a long story shorter....she went over a year without any treatment. They repeated her liver enzymes and asked me to collect a 24-hour urine copper. They explained this would be our way of monitoring her progress. Her urine result turned out normal. They warned me that a liver biopsy was inevitable but that they were going to postpone it for now. They told me that they would see her again in six months.
Six months later I took her to her appointment and this time the doctor mentioned that they wanted to start chelation therapy instead of the dreaded liver biopsy. Of course, I was relieved to hear the news and so the information did not "register" until I was on my way home. I started to panic about chelation because I vaguely remembered reading about the horrible side effects. My daughter was asymptomatic and doing so well. Did I REALLY want to make her sick? Did it make sense to start with chelation when there were other options? I decided to do some research.
I went online as soon as I got home and Googled "chelation therapy". I then decided to check out the Mayo Clinic website and read what they had as far as initial therapy was concerned. Everything I read led me to believe that zinc acetate was actually the treatment of choice for my daughter. I also remembered that I had access to the president of Wilson's Disease Association and I decided to email her about my feelings and concerns. This angel of mine immediately emailed me and validated my concerns. She told me that chelation was definitely not the first treatment of choice for asymptomatic pediatric patients. She sent me some information and booklets. I was convinced that I needed to contact the doctor at Children's Hospital and ask him if he had even considered this safer option.
I called the nurse and asked her to make sure that the doctor had considered zinc acetate as a possible treatment. I tried to remain optimistic. I did not want to believe that the doctors would blindly put my child on a very dangerous treatment without looking at the most obvious choice. The next day I received the phone call from the nurse telling me that the doctor had NOT heard of zinc acetate and that he did some research and felt that it WOULD probably be the best route to take. Surprise....surprise....surprise.
What IF I would not have done my research? What IF I wouldn't have questioned the treatment? What IF I wouldn't have contacted the right people? What if? What if? What if? I am totally convinced that things don't happen by chance. There is definitely a much higher power that is responsible for all the blessings in my life. My sweet husband, family, and friends constantly remind me that my kids are so lucky to have me as their mom. I believe that I am the lucky one. I have learned so much from them and my faith in all that's good comes from my motherhood experiences. I don't ever pretend to have all the answers. However, I do have to give myself a big pat on my back for providing these opportunities that have opened so many doors for treatment and ultimately maintenance of my daughter's Wilson's Disease. Who knows what her future COULD have been? That is why I am determined to remain an advocate and to educate everyone I can. PLEASE learn from my mistakes and take whatever tidbits you can from what I have learned and shared. It's beyond chance that you are sitting there reading this right now.... I honestly believe that.
******************************
We are more than mere pawns in
the game of life. We have the
power to be kings and queens.
******************************
Six months later I took her to her appointment and this time the doctor mentioned that they wanted to start chelation therapy instead of the dreaded liver biopsy. Of course, I was relieved to hear the news and so the information did not "register" until I was on my way home. I started to panic about chelation because I vaguely remembered reading about the horrible side effects. My daughter was asymptomatic and doing so well. Did I REALLY want to make her sick? Did it make sense to start with chelation when there were other options? I decided to do some research.
I went online as soon as I got home and Googled "chelation therapy". I then decided to check out the Mayo Clinic website and read what they had as far as initial therapy was concerned. Everything I read led me to believe that zinc acetate was actually the treatment of choice for my daughter. I also remembered that I had access to the president of Wilson's Disease Association and I decided to email her about my feelings and concerns. This angel of mine immediately emailed me and validated my concerns. She told me that chelation was definitely not the first treatment of choice for asymptomatic pediatric patients. She sent me some information and booklets. I was convinced that I needed to contact the doctor at Children's Hospital and ask him if he had even considered this safer option.
I called the nurse and asked her to make sure that the doctor had considered zinc acetate as a possible treatment. I tried to remain optimistic. I did not want to believe that the doctors would blindly put my child on a very dangerous treatment without looking at the most obvious choice. The next day I received the phone call from the nurse telling me that the doctor had NOT heard of zinc acetate and that he did some research and felt that it WOULD probably be the best route to take. Surprise....surprise....surprise.
What IF I would not have done my research? What IF I wouldn't have questioned the treatment? What IF I wouldn't have contacted the right people? What if? What if? What if? I am totally convinced that things don't happen by chance. There is definitely a much higher power that is responsible for all the blessings in my life. My sweet husband, family, and friends constantly remind me that my kids are so lucky to have me as their mom. I believe that I am the lucky one. I have learned so much from them and my faith in all that's good comes from my motherhood experiences. I don't ever pretend to have all the answers. However, I do have to give myself a big pat on my back for providing these opportunities that have opened so many doors for treatment and ultimately maintenance of my daughter's Wilson's Disease. Who knows what her future COULD have been? That is why I am determined to remain an advocate and to educate everyone I can. PLEASE learn from my mistakes and take whatever tidbits you can from what I have learned and shared. It's beyond chance that you are sitting there reading this right now.... I honestly believe that.
******************************
We are more than mere pawns in
the game of life. We have the
power to be kings and queens.
******************************
Monday, July 13, 2009
Beyond Chance (Part I)
I've had some faith-promoting things happen in my lifetime. However, the events that have occurred in the past two years involving my daughter with Wilson's Disease have truly been nothing short of a miracle. I wanted to briefly summarize my journey through symptoms, diagnosis, and treatment so far. I will then discuss a book that should be in EVERY doctor's library. I think this is one of the most important entries I will ever write because Wilson's Disease is rare and my daughter's case is even more rare.
My daughter was a healthy normal child until about the age of two when I noticed symptoms such as her lips, hands, and feet turning purple when she sat in her high chair for long periods of time. She slept more than normal. It was not rare for her to have two naps a day, each consisting of at least 3-4 hours. I tried getting the doctors to pay attention but they ignored these symptoms.
When my daughter was 2 1/2 we decided to evaluate her for speech therapy. She showed a regression in speech. I had some experience with this since my older two sons also had to have speech therapy. During her evaluation the therapist suggested I see a neurologist. She noticed that my daughter was having staring spells. I had never heard of that before and it was shocking to hear those words. However, I listened to this "angel" of mine and before long I had an appointment to see a pediatric neurologist.
The pediatric neurologist we ended up seeing is the one doctor who finally made sense to me. I give him credit for saving my daughter's life. He was not a conventional doctor by any means. He believed in more untraditional medicine and some of his ideas were not respected by other doctors in our area. One of the things he did was do a thorough evaluation of my daughter's blood. He checked many things that are not traditionally tested such as copper, ceruloplasmin, and various other enzymes. He ordered an EEG and CAT scan. He also told me to put her on a special diet of milk-free food for a while and see what happens. He also suggested a liquid multi-vitamin that I purchased at a health food store. There is one other thing he told me that goes against everything I was taught in school. He told me that there was evidence to show that vaccines caused neurological damage in some kids. Could this be causing my child's neurological symptoms? We just will never know.... even to this day.
The labwork was shocking to my doctors. My daughter barely had any copper in her blood. Normal values are 90-180 and she had values that ranged from 7 to 9 after repeat testing. Her ceruloplasmin was also low and almost nonexistent. Her liver enzymes were slightly elevated. When we went for her follow-up the doctor told me that there was a chance she could have Wilson's Disease and we needed to rule it out. That was the first time I had ever heard of that. Of course, that night I googled it and found out everything I wanted to know and a lot I did not want to know.
Her first test was the EEG. The results were inconclusive. The neurologist saw "some abnormal discharges" during the test, but nothing shocking. The CAT scan also came back normal. We took my daughter to an optomologist to check her eyes for the Kayser-Fleischer rings (which are basically distinctive rings of copper that accumulate in the eyes of many Wilson's patients but cannot be seen except by an expert). The optomologist did not see anything wrong with my daughter's eyes. She basically failed all of the "screening tests" for Wilson's Disease at this point. However, the neurologist was not convinced that she was okay. He knew something was wrong and he was determined to find out what. That is what I liked about him. He did not give up. The next thing he did was order the ATP7B gene testing to rule out Wilson's for sure. However, there was a laboratory error and it was never done. He tried a second time with another lab and for some reason it just never got done.
Unfortunately, this doctor moved shortly after this vital step in the process. The next thing that happened is very hard for me to even recall. I felt so hopeless during this time. I felt like the only person who could help my daughter had left me abandoned and all alone. However, I was not going to give up that easily. I searched and searched for another pediatric neurologist. I found out that there was only one left in my city and so I tried her next. She seemed very capable the first time I saw her. I liked the fact she was also a mom and that for some reason reassured me. Little did I know that it would not matter in the long-run. I told her about the previous doctor and what he was trying to do. She told me that he was a "quack" and did not understand why he did all those "crazy" tests on all of his patients. I was shocked to hear her say that. I expressed my concerns about ruling out Wilson's. She was not convinced. She said that my daughter was fine and healthy and that I did not need to do any more testing. However, she hesitantly ordered a 24-hour urine copper. Unfortunately, it came back normal and so she was convinced that my daughter did not have Wilson's.
(This is the main reason I wanted to write this post. I want to urge all of you out there who have a child with ANY copper and/or liver issues to rule out Wilson's Disease. Although it is considered a very rare condition, I am here to tell you that MY daughter has it and it's not rare to me! Listen to your gut and don't give up.)
A year later I decided to take my daughter to the Children's Hospital in Birmingham, Alabama. That is where I was blessed with a Pediatric Neurologist who had previously worked as a Genetic Doctor. I hit the jackpot!! When I told her about my daughter and how I wanted to rule out Wilson's Disease, she only hesitated for a moment and then ordered the very critical test that eventually diagnosed my daughter........ the Wilson's Disease work-up at Mayo Clinic! It consists of the ATP7B genetic test and other specific markers. Her results came back conclusive as diagnostic for WD. Finally, we had a diagnosis!! It took us almost 2 years, but we finally found an answer to why her liver enzymes were elevated and her copper was so low. I was referred to a liver specialist and a GI doctor. The rest of the story will probably not surprise you.
*********************
To be continued......
*********************
My daughter was a healthy normal child until about the age of two when I noticed symptoms such as her lips, hands, and feet turning purple when she sat in her high chair for long periods of time. She slept more than normal. It was not rare for her to have two naps a day, each consisting of at least 3-4 hours. I tried getting the doctors to pay attention but they ignored these symptoms.
When my daughter was 2 1/2 we decided to evaluate her for speech therapy. She showed a regression in speech. I had some experience with this since my older two sons also had to have speech therapy. During her evaluation the therapist suggested I see a neurologist. She noticed that my daughter was having staring spells. I had never heard of that before and it was shocking to hear those words. However, I listened to this "angel" of mine and before long I had an appointment to see a pediatric neurologist.
The pediatric neurologist we ended up seeing is the one doctor who finally made sense to me. I give him credit for saving my daughter's life. He was not a conventional doctor by any means. He believed in more untraditional medicine and some of his ideas were not respected by other doctors in our area. One of the things he did was do a thorough evaluation of my daughter's blood. He checked many things that are not traditionally tested such as copper, ceruloplasmin, and various other enzymes. He ordered an EEG and CAT scan. He also told me to put her on a special diet of milk-free food for a while and see what happens. He also suggested a liquid multi-vitamin that I purchased at a health food store. There is one other thing he told me that goes against everything I was taught in school. He told me that there was evidence to show that vaccines caused neurological damage in some kids. Could this be causing my child's neurological symptoms? We just will never know.... even to this day.
The labwork was shocking to my doctors. My daughter barely had any copper in her blood. Normal values are 90-180 and she had values that ranged from 7 to 9 after repeat testing. Her ceruloplasmin was also low and almost nonexistent. Her liver enzymes were slightly elevated. When we went for her follow-up the doctor told me that there was a chance she could have Wilson's Disease and we needed to rule it out. That was the first time I had ever heard of that. Of course, that night I googled it and found out everything I wanted to know and a lot I did not want to know.
Her first test was the EEG. The results were inconclusive. The neurologist saw "some abnormal discharges" during the test, but nothing shocking. The CAT scan also came back normal. We took my daughter to an optomologist to check her eyes for the Kayser-Fleischer rings (which are basically distinctive rings of copper that accumulate in the eyes of many Wilson's patients but cannot be seen except by an expert). The optomologist did not see anything wrong with my daughter's eyes. She basically failed all of the "screening tests" for Wilson's Disease at this point. However, the neurologist was not convinced that she was okay. He knew something was wrong and he was determined to find out what. That is what I liked about him. He did not give up. The next thing he did was order the ATP7B gene testing to rule out Wilson's for sure. However, there was a laboratory error and it was never done. He tried a second time with another lab and for some reason it just never got done.
Unfortunately, this doctor moved shortly after this vital step in the process. The next thing that happened is very hard for me to even recall. I felt so hopeless during this time. I felt like the only person who could help my daughter had left me abandoned and all alone. However, I was not going to give up that easily. I searched and searched for another pediatric neurologist. I found out that there was only one left in my city and so I tried her next. She seemed very capable the first time I saw her. I liked the fact she was also a mom and that for some reason reassured me. Little did I know that it would not matter in the long-run. I told her about the previous doctor and what he was trying to do. She told me that he was a "quack" and did not understand why he did all those "crazy" tests on all of his patients. I was shocked to hear her say that. I expressed my concerns about ruling out Wilson's. She was not convinced. She said that my daughter was fine and healthy and that I did not need to do any more testing. However, she hesitantly ordered a 24-hour urine copper. Unfortunately, it came back normal and so she was convinced that my daughter did not have Wilson's.
(This is the main reason I wanted to write this post. I want to urge all of you out there who have a child with ANY copper and/or liver issues to rule out Wilson's Disease. Although it is considered a very rare condition, I am here to tell you that MY daughter has it and it's not rare to me! Listen to your gut and don't give up.)
A year later I decided to take my daughter to the Children's Hospital in Birmingham, Alabama. That is where I was blessed with a Pediatric Neurologist who had previously worked as a Genetic Doctor. I hit the jackpot!! When I told her about my daughter and how I wanted to rule out Wilson's Disease, she only hesitated for a moment and then ordered the very critical test that eventually diagnosed my daughter........ the Wilson's Disease work-up at Mayo Clinic! It consists of the ATP7B genetic test and other specific markers. Her results came back conclusive as diagnostic for WD. Finally, we had a diagnosis!! It took us almost 2 years, but we finally found an answer to why her liver enzymes were elevated and her copper was so low. I was referred to a liver specialist and a GI doctor. The rest of the story will probably not surprise you.
*********************
To be continued......
*********************
Thursday, July 2, 2009
My Son's "Rudy" Moment
I strongly suggest you see the movie "Rudy" if you haven't already. It's a very inspirational movie and is based on a true story. It's about a young boy whose life-long dream is to play football for the Irish or Notre Dame. He's short and not the best player, but his strong will to overcome his weaknesses help him to make his dream come true. Anyways, the reason I call this entry "My Son's Rudy Moment" is because I witnessed something in him that I saw in Rudy and I couldn't be more proud of him.
My oldest has never been great at sports. He's very smart and has always been good at computer games and such, but sports has never been his "thing". We tried baseball a couple years and he sat on the bench and hated every moment of it. When he was out on the field he would just observe the insects on the grass or look at the clouds in the sky. He had trouble paying attention to the game and since the ball rarely got hit his direction, it was boring for him. We gave up after about three years of baseball. It wasn't worth the time and effort on OUR part getting him to practices and even coaching one year.
A few years ago we tried soccer through the local YMCA. Again, we saw the same thing happen. He sat on the bench and rarely got to play. The coach did not even give him a chance. It was sad going to the games and seeing him waiting in anticipation to play. As a matter of fact, I vividly remember telling him to be more outspoken and ask the coach to let him play. It was ridiculous!! However, the coach just ignored him and put him the minimum amount of time required. After that year I decided that perhaps I needed to stop pushing sports on him. However, deep in my heart I knew that boys NEED sports. They need it for many reasons. First, they need it to learn how to work as a team. Secondly, they need it to use up some of that energy. The last reason I feel boys need sports is because it builds character and self-esteem. It's important for a child to learn what it feels like to bust your butt and lose a game as well as winning. That is something that you can not learn any other way.
Well... this year, we decided to try out soccer once more. I love the idea of indoor soccer since I hate the heat and summers in Alabama are unbearable! I took him to his first practice and I noticed that the coach was impressed with his size. He's about a head taller than his teammates. I watched them practice and I could tell that some of the boys had been playing for a long time. In the back of my mind I was dreading it because I just knew that he would probably be sitting on the bench for most of that first game for sure! Their first game was the following day and so that meant they only had one practice under their belt. I watched the kids go out into the field and did not see my son. My first thought was, "I guess they will put him in next quarter." However, I was shocked when my son came out and stood by the goal. The assistant coach began to kick balls at him and did a little "warm-up" with him right before the game started. I have to admit that I was a bit anxious about this. He had NEVER played goalie before and I thought it was a bit cruel to put him in first quarter. He also had a rather large wound on his knee that had not scabbed over yet and so was a bit tender. I bought some really expensive bandages to ensure that he was protected. All I could do was pray that the ball would not make it his way.
The whistle blew and the game started. The other team had some very seasoned players and the ball was near the goal for the majority of that first quarter. Every time they kicked the ball towards the goal my heart would skip a beat. I would hold my breath and sometimes close my eyes. My son blocked each and every one of them! He got aggressive and would reach out and grab the ball and throw it past the halfway mark on the field. I was so impressed and so were the other parents. They cheered and clapped for him. Unfortunately, his bandages on his knee kept falling off and so the other team got a couple points... once while the assistant coach attempted to help him put another band-aid on and then another time while my son was attempting to put it back on his knee after it had fallen off onto the ground. After the second quarter the coach replaced him with his second pick. Unfortunately, the final score ended up being 14-0 and we lost. I told my son that he should be extremely proud to know that he did such a good job and they were only able to get a couple points while he was the goalie.
The next game was just a few days later. The coach had called me and told me that he saw great potential in my son and that he was going to put him as goalie again. He was surprised when I told him that he had not played goalie before and that to be honest he had not much playing time since the previous coach kept him on the bench most of the season. He told me that he had seen great improvement already from the first practice until the first game. I had seen a change in his self-confidence for sure. It was a neat thing to see. We played the same team we had played in the first game and so my expectations were kind of low. I figured if we scored anything that was good for our team. My son did a great job once again for two quarters, and this time we figured out how to bandage his knee properly so that wasn't an issue. When it came time for him to play out in the field I saw him make some moves that totally blew me away. He was actually aggressive and I had NEVER seen that side of him before in ANY sport. He ran the ball, passed it to one of his teammates, and then got right by the goal and when the ball came his way he kicked the ball into the goal! Everyone cheered and one of the parents turned to me and said, "That's what I call goalie's revenge!" He looked over at me and gave me a smile and I smiled back. That moment was totally priceless! When the quarter ended he got "high-fives" and praise from all the team and coaches.
The final score was 2-6 and our team lost. However, it was definitely an improvement from the first game and we showed the other team that we are not going to give in that easily. After the game, the coach explained to us that there was some "unsportsmanlike" conduct displayed by the other team after the game and that just showed that we got to them. I really like this coach and I love the fact that he gives ALL the players a chance to shine. He has an optimistic attitude and it rubs off onto the kids. We need more of that in the world today.
********************************
When you feel like giving up....
DON'T!!!
********************************
My oldest has never been great at sports. He's very smart and has always been good at computer games and such, but sports has never been his "thing". We tried baseball a couple years and he sat on the bench and hated every moment of it. When he was out on the field he would just observe the insects on the grass or look at the clouds in the sky. He had trouble paying attention to the game and since the ball rarely got hit his direction, it was boring for him. We gave up after about three years of baseball. It wasn't worth the time and effort on OUR part getting him to practices and even coaching one year.
A few years ago we tried soccer through the local YMCA. Again, we saw the same thing happen. He sat on the bench and rarely got to play. The coach did not even give him a chance. It was sad going to the games and seeing him waiting in anticipation to play. As a matter of fact, I vividly remember telling him to be more outspoken and ask the coach to let him play. It was ridiculous!! However, the coach just ignored him and put him the minimum amount of time required. After that year I decided that perhaps I needed to stop pushing sports on him. However, deep in my heart I knew that boys NEED sports. They need it for many reasons. First, they need it to learn how to work as a team. Secondly, they need it to use up some of that energy. The last reason I feel boys need sports is because it builds character and self-esteem. It's important for a child to learn what it feels like to bust your butt and lose a game as well as winning. That is something that you can not learn any other way.
Well... this year, we decided to try out soccer once more. I love the idea of indoor soccer since I hate the heat and summers in Alabama are unbearable! I took him to his first practice and I noticed that the coach was impressed with his size. He's about a head taller than his teammates. I watched them practice and I could tell that some of the boys had been playing for a long time. In the back of my mind I was dreading it because I just knew that he would probably be sitting on the bench for most of that first game for sure! Their first game was the following day and so that meant they only had one practice under their belt. I watched the kids go out into the field and did not see my son. My first thought was, "I guess they will put him in next quarter." However, I was shocked when my son came out and stood by the goal. The assistant coach began to kick balls at him and did a little "warm-up" with him right before the game started. I have to admit that I was a bit anxious about this. He had NEVER played goalie before and I thought it was a bit cruel to put him in first quarter. He also had a rather large wound on his knee that had not scabbed over yet and so was a bit tender. I bought some really expensive bandages to ensure that he was protected. All I could do was pray that the ball would not make it his way.
The whistle blew and the game started. The other team had some very seasoned players and the ball was near the goal for the majority of that first quarter. Every time they kicked the ball towards the goal my heart would skip a beat. I would hold my breath and sometimes close my eyes. My son blocked each and every one of them! He got aggressive and would reach out and grab the ball and throw it past the halfway mark on the field. I was so impressed and so were the other parents. They cheered and clapped for him. Unfortunately, his bandages on his knee kept falling off and so the other team got a couple points... once while the assistant coach attempted to help him put another band-aid on and then another time while my son was attempting to put it back on his knee after it had fallen off onto the ground. After the second quarter the coach replaced him with his second pick. Unfortunately, the final score ended up being 14-0 and we lost. I told my son that he should be extremely proud to know that he did such a good job and they were only able to get a couple points while he was the goalie.
The next game was just a few days later. The coach had called me and told me that he saw great potential in my son and that he was going to put him as goalie again. He was surprised when I told him that he had not played goalie before and that to be honest he had not much playing time since the previous coach kept him on the bench most of the season. He told me that he had seen great improvement already from the first practice until the first game. I had seen a change in his self-confidence for sure. It was a neat thing to see. We played the same team we had played in the first game and so my expectations were kind of low. I figured if we scored anything that was good for our team. My son did a great job once again for two quarters, and this time we figured out how to bandage his knee properly so that wasn't an issue. When it came time for him to play out in the field I saw him make some moves that totally blew me away. He was actually aggressive and I had NEVER seen that side of him before in ANY sport. He ran the ball, passed it to one of his teammates, and then got right by the goal and when the ball came his way he kicked the ball into the goal! Everyone cheered and one of the parents turned to me and said, "That's what I call goalie's revenge!" He looked over at me and gave me a smile and I smiled back. That moment was totally priceless! When the quarter ended he got "high-fives" and praise from all the team and coaches.
The final score was 2-6 and our team lost. However, it was definitely an improvement from the first game and we showed the other team that we are not going to give in that easily. After the game, the coach explained to us that there was some "unsportsmanlike" conduct displayed by the other team after the game and that just showed that we got to them. I really like this coach and I love the fact that he gives ALL the players a chance to shine. He has an optimistic attitude and it rubs off onto the kids. We need more of that in the world today.
********************************
When you feel like giving up....
DON'T!!!
********************************
Subscribe to:
Posts (Atom)