Why the Stigma?

beach.jpgWith the passing of Robin Williams this week and the pronouncement that he was battling severe depression, many people have been talking out the stigma that is often associated with depression and anxiety.

It is so sad that there is still a certain “perception” regarding cognitive and mental issues that causes people to withdraw instead of reach out. These are scientifically-diagnosed conditions caused by brain chemical imbalances. So why, in a world where other stigmas have been so triumphantly challenged and overcome, are these conditions still viewed so differently from other diseases with the same underlying cause? What is the difference between a brain chemical imbalance that causes seizures or one that causes depression?

I have been personally affected by postpartum depression and know others who have battled depression and anxiety. These disorders can be so debilitating that it makes it difficult for people to function and even get out of bed. Thankfully not all people who battle depression are suicidal. What may be less understood, however, and perhaps in the case of Robin is that people with depression can’t just “snap out of it” or that thoughts of suicide are rational decisions. While diseases like these and many others are difficult to understand at times, it is for this very reason that we could all benefit from more interest and understanding.

My hope is that someday we can accept these diseases for the medical conditions that they are and reject the people that continue to further ignorant stigmas, for they are the ones that are truly irrational.

Trust Your Gut

DSC02042.jpgAny parent knows that one of your biggest jobs is being your child’s advocate. You can advocate for them in medical situations, school issues and even with social disputes.

One of the most important parts of advocating for your child is trusting your gut. You know your child best and usually your gut will tell you when something is just not right. I think parents tend to discount this factor especially when it goes against what experts have to say. Sometimes we know what is better for our child, even more so than doctors.

Doctors, teachers and other authority figures try to do what is best, but sometimes the subtleties of our kids can be lost on them. We as parents can see these things daily and know when something is wrong or just not working. You just have to trust your gut and speak up. It isn’t easy to do but if you have the strength it can be powerful for both you and your child.

When Jack was a baby we as new parents didn’t understand the power of trusting your gut. I had a feeling that more was wrong in those early months, but didn’t know how to say it to the doctors in a way that made sense and not like a desperate mother. We eventually found out that there was more going on with him and I learned to trust my gut.

Have you had to advocate for child in medical or other issues? Have you had to trust your gut?

Cold Theory

Will sickI have a theory. During a child’s second full winter their immune system can’t handle what the world throws at it and as a result they get sick for months at a time. I know that sounds goofy, but hear me out.

When both of my boys hit the fall season when they were two years old, I remember thinking that they seemed to go from cold to cold. I actually talked to our doctor and some of the nurses asking them what was going on. They said they weren’t sick for weeks at a time, but probably sick for two weeks, then well for a few days, then sick again. I have talked to several friends who have noticed the same thing.

It is the child’s second full winter where they seem vulnerable — if they are born during the winter (like Jack in January) that winter doesn’t count. The next winter after their “sick year” they were much healthier, just the normal amount of colds.

I am wondering if it is a combination of their age — most kids are 1-2, so they are more active participating in activities. During this time is appears that the immune system is doing some balancing and adjusting. Once they have successfully weathered that second winter, their immune system is able to handle more of the bugs that come their way.

My interest in this theory may come from my interest in epidemiology and wanting to understand why diseases affect certain populations of people.

What do you think? Is my theory completely bogus or thinking back does it have some merit?

Dr. Poop

Will underwearIt has been months since I have written about our potty training journey, and that is what it has been — a journey. I wish I could report that we are completely free and clear and that Will is potty trained, but sadly I can’t. However, we have made some progress.

Back in November after five months of trying everything we could think of we made an appointment with an expert in Encopresis, aka a Poop doctor. Encopresis is the voluntary or involuntary passage of poop causing soiled clothing in children (please don’t ask me to pronounce it). We wanted to make sure there wasn’t an underlying medical cause to Will’s issues.

She has been a specialist in this area for many years and is the person to go to. Unfortunately her office is a 45 minute drive one-way without traffic. And yes she has pictures of poop on her desk.

Before our first meeting in early December, he had an abdominal x-ray to make sure he wasn’t FOS or full of stool (insert other words if you would like). He wasn’t FOS, but she felt that his nerve sensations telling him when he needed to poop weren’t working correctly due to continued bouts of constipation. She increased his dose of Myralax, added some mineral oil to the regimen and sent us home with worksheets to fill in every time he poops. We record the time, size, color and texture of his poop — super fun.

In the six weeks between our first and second appointments he made some great progress. Even with our travels over Christmas he did well. He actually started to initiate getting up on the potty before having an accident. This was huge because he had never done this.

At our January appointment she was happy with his progress and felt that we could get a reward system started for him to motivate him to initiate getting on the potty. He would get a sticker for every time he got himself on the potty and once he had five stickers he got a Lego. That worked great for a few weeks, until we had a major setback. He had several bouts of diarrhea and unfortunately we didn’t react well. Since then he has gone back to have accidents almost every day.

Last week we met with her again. She is still happy with his overall progress, but understands the setback. We have decided to decrease his Myralax a little to combat any over-medicating that might be contributing to his accidents. She also suggested that we change the rewards to a sticker for no accidents each day. After three stickers he would get a Lego. We will see if this restarts his motivation.

Jim and I are working hard to curb our reactions to his accidents and start to make him responsible for cleaning himself up. It is really hard when he has multiple accidents in a day again. He is also in this difficult developmental period where he is just a turkey.

Everyone keeps saying that he will be potty trained before he goes to Kindergarten. While the thought is somewhat comforting, I remember that we have already been at this for eight months and can’t imagine continuing like this for another year and a half.

What does 20/20 vision mean?

We all hear references to 20/20 vision, but what does that really means? I was talking with a friend and realized even I couldn’t accurately articulate it after all we have been through. So here is an explanation.

Over time, eye doctors established what “normal” people should be able to see at a distance of 20 ft. At the doctor’s office they test us with eye charts containing letters at a simulated distance of 20 feet and if you can see the appropriate line, then you have 20/20 vision. Or you can have your vision corrected to 20/20 using glasses or contacts. Keep in mind, this is considered “normal” vision.

People with 20/40 vision can see at 20 feet what people with “normal” vision can see at 40 feet. A person with 20/100 vision can see at 20feet what people with “normal” vision can see at 100 feet. It is important to remember that 20/20 vision isn’t considered perfect vision, it is considered normal vision.

It is also possible for people to have better than “normal” vision, such as 20/10 or 20/15. That means that those people see at 20 feet what people with“normal” vision would see at 10 or 15 feet.
In the United States, people with vision 20/200 or higher are considered legally blind. I was actually considered legally blind before my LASIK surgery and without my glasses or contacts. Unlike Will’s condition that affects the back of the eye (retina), my vision deficiency was due to a lens defect so it was correctable. Typically you need to have 20/40 vision using eyes together to pass driver’s vision exams around the country.

Jack’s vision is 20/25 in his right eye and 20/40 in his left eye, due to his ocular albinism. We don’t know what Will’s vision is yet, but have been told it will most likely be between 20/80 and 20/50. It is our hope that it will be good enough for him to pass a driver’s test.

Sources:
http://health.howstuffworks.com/human-body/systems/eye/question126.htm

Nystagmus

Will at parkNystagmus is an involuntary swing-like movement of the eyes, causing the eyes to move rather than staying still to focus on a particular object. It usually is present in both eyes, but sometimes can only affect one. There are two main types of nystagmus, congenital/early onset and acquired. Will has congenital nystagmus.

In congenital/early onset, babies can have nystagmus present at birth or it can appear in the first few months of life. Will’s started at about four months of age. Most cases of congenital nystagmus are caused by some other vision-related condition such as albinism, congenital cataracts, or optic nerve hypoplasia. About 1 in 1000 children have nystagmus.

Most cases of congenital nystagmus are pendular where the eyes move back and forth evenly like a pendulum. The speed and length of the oscillations can vary depending on stress, fatigue, direction of vision and distance of vision. The farther away an object is from the patient the harder it is for them to focus on it. We notice that Will’s gets worse when he is in an unfamiliar place and he is looking for something across the room or far away. Children don’t typically notice that their eyes move, therefore it usually doesn’t give them a feeling of constantly being in motion or having shaky vision. Many children’s nystagmus actually improves through childhood. Will’s has been getting better. There are times when his eyes only move a small amount. It is unclear whether the condition is lessening or he is learning to dampen the movement.

Acquired nystagmus is typically due to another neurological condition such as head injury, multiple sclerosis or brain tumor. Patients with acquired nystagmus typically notice the eye movements, causing dizziness or vertigo. Eye movements with acquired nystagmus are usually directional, meaning the eye moves slowly in one direction and moves quickly back.

La_Vie_Photo-238.jpgPatients with nystagmus will find a spot or null point in their field of vision where their nystagmus is minimized. Null points vary from patient to patient — typically they will turn their head down and to one side. It is helpful for friends, family and educators to understand where a child’s null point is and encourage the child to use it. Sometimes there is a stigma involved with how a child with nystagmus will hold their head to look at you, since their null points are usually not straight on. Notice in the photos that Will has his head turned to the side and is looking at the camera out of the right side of his eyes.

Nystagmus is not curable. There are some surgical methods and drugs that have been shown to potentially help, but these are not mainstream therapies and aren’t used in most cases. The side effects can often outweigh the benefits of the procedures. We have decided not to pursue any of these therapies for Will’s nystagmus as we were not convinced any would help.

For school-age children it is important their teachers are aware of their nystagmus and how to help them. They may need to sit on a certain side of the classroom or close to the front. Large print books, worksheets and large fonts on the computers also help these children. Although people with nystagmus can read small type, it is more difficult and can put more strain on the eyes and brain, prematurely fatiguing the individual. Some children may require additional time to complete tasks, since it can take longer for a person with nystagmus to focus on objects.

Nystagmus can be managed with a little bit of understanding and love. It has always been important to us that Will not feel different from everyone else. We explain that he sees differently to other people and show them how to help him. Eventually he will be able to explain to people what he needs to help him see his best and have a good experience through life.

 

I sourced my information from the following sites.

http://www.lowvision.org/nystagmus.htm

http://www.allaboutvision.com/conditions/nystagmus.htm

http://nystagmus.org/new/index.php

How the Eye Works

Most of us have a very basic understanding of how our eyes work, often taking our vision for granted. You would think that I personally would have a better knowledge of the eye, since I had terrible vision (I was actually considered legally blind without my contacts) until I had Lasik surgery twelve years ago. Even after that I hadn’t really thought much about how eyes work until Will’s diagnosis of Ocular Albinism in 2009.

Similar to how a camera works, the eye works by letting in light that bounces off of objects and focusing the light on the back of the eye or retina. The light enters the eye by passing through the cornea, which is a thin membrane on the outside of the eye, protecting the eye from outside objects. Next the light passes through the pupil which dilates bigger or smaller depending upon how bright it is. The darker the area, the larger the pupil is. The lens then focuses the light so that when it reaches the retina it is a sharply focused image. The lens flattens out to focus on far away objects and thickens to focus close. People who wear glasses and contacts need help focusing the lens correctly. As we get older, the lens hardens making it harder to focus on things up close (this is why it gets harder to read your prescription bottles and have to hold them father away to focus).

After passing through the clear fluid in the center of the eye called the vitreous gel, the light reaches the retina. Rods and cones on the retina turn the light into electrical signals and send those signals to the brain via the optic nerve. Cones are located in the central part of the retina called the macula. They are responsible for sharp detail and color. The rods are on the outside of the macula and provide the peripheral vision. The brain translates those electrical signals into the image we see.

The eyes work separately taking in the light and our brain creates what we see by putting the images from the eyes together. This allows us to have accurate vision of our three dimensional world. If you try covering one eye, you will notice how your field of vision changes and makes it more difficult to tell depth and dimension.

Hopefully this overview will help you understand how your eyes work and an appreciation of this complex and sophisticated visual system.

eye diagram

Photo credit – Baltimore Eye Care

Got Milk? Not Me

I have been struggling again with my weight and my thyroid (wrote about it here). Even while I have been working with my doctor, I also thought that it might be good to try a naturopath. Our body systems are so interconnected that I am sure there are multiple things going on, plus she might be able to help me with some ongoing leg pain issues that I have had for years (for another post later).

After some blood tests for food sensitivities, she felt it would be good for me to try a no-dairy experiment. For two weeks I completely cut dairy out, including foods that contain dairy like pancake mix, bread and cereal. I was supposed to note how I felt. After two weeks I would be able to reintroduce dairy and see if it changes how I was feeling.

The two weeks were hard, very hard. The first week I was grouchy, because I had to find an alternative to my latte and I am having trouble embracing soy. We attended a dinner and auction where I couldn’t eat half the dinner; luckily Jim asked for a salad without dressing for me otherwise I would have eaten only a serving of beef all night. The second week was easier, but I wasn’t feeling any better AND the weight wasn’t coming off.

Finally it was time to reintroduce dairy and see what happens. I strategically waited until a time when I was home, just in case. Guess what, nothing happened. I had a latte after lunch, a string cheese for snack, a serving of lasagna at dinner and frozen yogurt for dessert (wasn’t following the diet that day). It was a fair test of dairy with a variety of items. I had no changes, no gas, discomfort or anything.

While these results are great and I can go back to eating dairy and not worrying, the question is still there, what is going on.

Battling My Thyroid, Again

Last summer I wrote about how I have been living with Hypothyroidism for the past ten years. Until last spring I was stable and living comfortably with this disease. Then it changed.

Over the course of a few weeks last spring I gained twelve pounds and other symptoms returned — acne, decreased energy level, difficulty sleeping and general mood malaise. After my doctor upped my thyroid meds I felt a lot better and dropped about ten pounds. Then I got sidetracked with the weight loss, but maintained my weight over the summer and fall.

Then in December and January my symptoms returned and I gained another twelve pounds. Could this really be happening again? The most frustrating thing is that nothing has changed, my diet, my workouts, nothing. I was doing all of the same things I had been last summer and fall when I was maintaining and now I was gaining. I was beyond upset.

Naturally I ran to the doctor’s office to have them retest my thyroid. The results showed I was still in the normal range. After speaking with my doctor and telling him my symptoms, he agreed to up my dose if I would get retested in six weeks. However this time, my symptoms didn’t go away with the increase in dosage and the weight hasn’t been coming off. After dieting and increasing the intensity of my workouts for nine weeks I have lost six pounds and most of that came off right away.

For anyone who has tried to lose weight before you can understand how deflating it is to get on the scale each week and have none of your hard work show. It is demotivating. But I don’t want to be on a diet for the rest of my life. I want to get to a healthy and maintainable weight where I can live my life.

I returned to my doctor last week to talk about my lack of progress and what we should do. I know there is something going on, but can’t put my finger on what it could be. He has seen me through losing the initial 50 pounds of thyroid weight and both times of baby weight, so he knows I am doing all I can.

My six week thyroid retest came back at the same level as it was before the increase in dosage. However he said he thought it would be worth increasing the dose again to see if that will help. I had to promise to come back in six weeks for a retest to make sure I am not over-replaced. Based on those results we will decide if it is time for me to go to an Endocrinologist. My sister feels that I should be going to one now as she has had thyroid disease longer than I have. I think I am going to ask to see one either way.

If the results come back that I am over-replaced, then I have something else metabolic or hormonal going on potentially. If the results come back that I am at the same levels as before, then I want to know why my thyroid is shifting every few weeks/months. I love my doctor, but I think either way it will be time to add a specialist to my treatment team.

Genetics of Ocular Albinism

My boys have both been diagnosed with the genetic condition, Ocular AlbinismWill in August of 2009 and Jack in November 2010. Ocular Albinism is a condition in which the eyes lack melanin pigment in the fovea of the retina causing decreased visual acuity. I have received many questions about the genetics of Ocular Albinism given the complexity of the eye and this rare disease, so let me try to provide some clarity, no pun intended.

The most common form of Ocular Albinism is X-linked where the affected gene is on the X chromosome. Due to the fact that boys have only one X chromosome inherited from their mother, they are most affected by Ocular Albinism. Each time a mother carrying the mutated X chromosome has a baby boy there is a one in two chance that the boy will have Ocular Albinism. Unless the father has Ocular Albinism, girls will either just be carriers or not affected by this type. Based on the diagnosis at Seattle Children’s Hospital, we believe the boys have X-linked Ocular Albinism.

x-linked

A more rare form of Ocular Albinism is autosomal recessive. In this form both parents carry the recessive gene. In this case, the baby would have to receive an affected gene from each parent to have Ocular Albinism. There is a one in four chance that any children would have Ocular Albinism. Both boys and girls have an equal chance of inheriting the affected genes. Oculocutaneous Albinism (the most severe type of albinism that affects the pigmentation of the skin, hair and eyes) is most commonly autosomal recessive.

autosomal recessive

The only way to truly identify the type of Ocular Albinism is to conduct a genetics test, however, examination of the mother can help narrow the possibilities. The gene for X-linked Ocular Albinism has been identified at GPR143. We have opted not to do the genetic testing at this time, due to the cost of the procedure and the fact that it doesn’t alter our treatment plan for the boys. We will eventually do the testing so the boys know what odds they are dealing with when it is time for them to start a family. While that choice is ultimately personal, Will has proven that children with this disease can be fully-functioning human beings. And hysterical, larger than life, crazy and the love of our lives.

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