My life as mama
Unraveling the layers of Argon + AldridgeI wasn’t sure that I wanted to talk about this, because in some parts of the world, people with this disorder are actually in real danger, and some have even lost their lives due to it.. at the hands of others. But because I feel as though there should be more awareness about the condition, I wanted to use my blog as a place to talk about it.
Intro
I knew that our twins were different from the moment I became pregnant.
Very early on, I noticed that their eyes would wiggle, later diagnosed as Nystagmus.
Nystagmus [a condition where the eyes shake involuntarily]
Normally, I take our children to their very first doctor’s appointment after birth and then we don’t go back unless they get sick. Some of my kids have only seen a doctor one time in their entire life, because we keep them well. With the twins, I took them to their doctor’s appointments routinely because that was a part of their NICU care plan. I asked the doctor a few times to send us to an ophthalmologist so that we could get a specialist’s opinion as to why the twins’ eyes were moving involuntarily. At 6 months old, we obtained a referral where the eye doctor confirmed that they in fact do have a medical condition.
at the eye doctor..
“He took one look into their eyes, and he knew immediately what it was – despite it being a rare disorder.”
During the appointment, the twins had their eyes dilated, this was so that the doctor could evaluate how developed their eyes are. During that time, the physician’s assistant told us that nystagmus is a “preemie thing” in most cases and is due to an under-developed muscle behind the eye. It usually strengthens as they use their eyes and get older. The doctor came in, he took one look into their eyes, and he knew immediately what it was, despite it being a rare disorder. He said to us, there is limited pigment in the back of their eyes, this allows light to come into their eyes, which impacts how they see the world. He went on to tell us that some of his patients with this condition do drive, but most do not. The doctor didn’t say much else, and he referred us to see a pediatric ophthalmologist for a second opinion and said that we needed to have further testing done, to make sure there wasn’t more to this. So they made the appointment with a doctor in Salt Lake City, which confirmed how I feel about doctors in general and will be a reminder for future encounters with doctors. I’ll talk about that in a later post.
After the twins were born, I wasn’t able to go see them for a few hours, so I asked the nurse what she could tell me about what they looked like, now I hang on to one of the things she said; she said “They both have white hair” at the time, I didn’t think anything of it because two of our other children have white hair. During their NICU stay, many nurses and hospital staff members commented on their white hair, but still.. it never occurred to me that something was different about them when it came to their appearance.
In the image here, you can see that Argon’s Eyes are blue, but if you look closely, you can see that instead of the blue color going all the way to his pupil, it turns white. This is a lack of pigment in the front of his eye, which is associated with the lack of pigment in the back of his eye too.
The twins were diagnosed with Ocular Albinism (a very rare disorder – 1 in 60,000 births)
Albinism: A group of inherited disorders characterized by little or no melanin production.
The doctor left the room after giving us the formal name of the disorder, we really didn’t know much about it and honestly, my husband and I looked at each other, very confused and I
We lived about an hour from the doctor’s office, so we had time to talk about what the doctor had just told us and about the fact that our next appointment wasn’t for months. Part of me was really nervous because there was still so much uncertainty, but ultimately we knew that our twins were just fine, health-wise. During our appointment in Salt Lake City, we found out that there are different types of Albinism, and that it is a genetic disorder. Ocular Albinism is passed from mother to son, and then the other forms of Albinism are inherited by a gene carrier mother and father and can be passed to either sons or daughters. Since Albinism effects how the person sees things. People with albinism have between 20/40 and 20/400 vision, this basically means that things are either kind of blurry, or very blurry. They aren’t totally blind and will most likely be able to read and do most things normally, but whether or not they will drive is the one thing that is in question, and will be until later in their lives. They will always be considered visually impaired people because their vision cannot be corrected with glasses or surgery.
Our visit with a genetic counselor
The appointment with the Moran Eye Center in Salt Lake City happened to be on a day where the Genetic Counselor was available! This worked out great because an appointment with the genetics clinic was like 6 months out (over a year out for Boise!) After the doctor confirmed their diagnosis, the genetics counselor was able to take a little bit of information, like our family tree and what we knew about our family members’ health history.
Before our appointment I talked about this with my mother in law and she told me something pretty interesting, my husband’s aunt (on his father’s side who they don’t know all that well) actually had complete albinism, and so when I told this information to the genetic counselor, she was then pretty certain that our boys have Oculocutaneous Albinism (the more common version – 1 in 20,000 births) which affects the hair, skin
These are the most noticeable people out in public, they are usually very fair in skin tone, as well as hair color, no matter what ethnicity they are.
At our appointment, the genetic counselor suggested that we have testing done to know the type that Argon & Aldridge have, she said that because all of our children are fair, we can’t be 100% sure until we test. Since the precautions are different from type to type, we felt that it was important to know as well. I have to say, I am so thankful for DDC for the
When the testing comes back, we will know which type of Albinism the twins have and whether or not they have a serious condition called Hermansky-Pudlak Syndrome (HPS). Which is even rarer than Albinism (1 in 500,000 to 1,000,000 births worldwide.)
This syndrome is closely associated with Albinism and has to do with blood platelets, as you could imagine, since I have a platelet disorder myself, I jumped to the worst case scenario, but if the twins have HPS, we most likely would have seen symptoms, which we haven’t. Since Albinism is misunderstood most of the time, I jotted down some facts and myths about the disorder.
Facts
There are different types of Albinism & each person’s condition presents differently.
Ocular Albinism (OA)
1 IN 60,000 BIRTHS
This version of Albinism affects primarily the eyes. People with this form may or may not have lighter skin and hair.
Oculocutaneous albinism (OCA)
1 IN 20,000 BIRTHS
This version of Albinism is easier to recognize because it always affects the hair, skin and eyes.
– Those with OCA (Complete Albinism) will have fair skin, but their hair color can range from platinum blonde to light brown and even red in color. Their eyes are the same way, you will see some with pink / reddish colored eyes all the way into the blue shades.
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Albinism isn’t something that can be cured, there actually isn’t anything that needs to be treated. This is something that is genetic and is life-long.
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Having Albinism does increase the chances of getting skin and eye cancers. Those who have OA don’t need to worry quite as much about sun exposure as far as their skin is concerned.
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Genetic Mutations are what cause Albinism.
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Albinism is a condition that won’t get worse over time and doesn’t change the life expectancy of an person.
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Plants & animals can also have Albinism!
myths
Albinism is unfortunately very misunderstood in many parts of the world, here are some common myths that I’ve come across.
Myth: People with Albinism have magical powers, and their organs can be used to cure others.
Myth: If an HIV infected person has sexual relations with a woman who has albinism, they will be cured of their infections.
Myth: Spending too much time in the sun? You may develop albinism.
Myth: People who have albinism have a lower IQ.
final thoughts
looking ahead
Our twins have been a surprise from the very beginning, so we are no stranger to waiting around for more information – but I have to say that waiting to know what to do next is difficult. I just want to know what we’re up against and how we can give our sons the best life.
The twins work with a physical therapist so that they don’t fall behind on their milestones due to their vision. Currently, we don’t see any differences when comparing Argon & Aldridge to our other children and when they achieved their milestones. In fact, they are actually ahead in a lot of areas. We aren’t concerned about their development which helps us to think positively about the fact that they are different from other children.
Currently, because we don’t know the status of their tests, we are taking the same precautions as we would knowing that they have the full form of Albinism. We want to be sure that they are protected where they need to be, to prevent damage later down the line.
Going forward, the twins will have routine eye exams every 6 months to check for any kind of cancer or issues with their eyes.
We are thankful for the knowledge that we have, but wish that the NICU or doctors would have caught this condition sooner, so that we could have been more proactive.
