Albinism 101 and Dr. Appt. Updates

Well, Rocco will be 8 weeks old soon and it's time for me to head back to work. I go back on Wednesday, March 10th. I'm looking forward to getting back to a routine but not necessarily back to work. I've been doing some work all along so I shouldn't be too overwhelmed when I go back. I am not doing any work the last week at home though and trying to enjoy the last bit of time with my boys.
Here's some updates on Rocco. He had a pediatrician appt. a couple of weeks ago, a genetic specialist appt. 2 weeks ago and an ophthalmologist appt. last week. At. the pediatrician all looked fine. His weight was 8 lbs., 10 oz. His length was 22 inches and his head was 14 1/4 (I think). His weight and head were on the lower side of the normal range and his length was above average. I think he's going to be long and lean like his dad! He also had to get a shot while he was there. He did great. He cried but not for long. We've called the pediatrician since that appt. though and switched him to a soy formula to help with his gassiness. It does seem to be working.

The genetic specialist appt. didn't tell us too much we didn't already know. The focus of the appt. was to discuss Rocco's Albinism. I thought we'd find out which type of Albinism he has but we were told that requires a blood test. The Dr. said we should check with our insurance first though to see if they cover the test. Basically though, the test would determine if he has Type A or Type B. One type usually results in the child developing some melanin in the skin, hair and eyes as he ages. The other type does not. The Dr. said she couldn't say for sure which type he has at this point by just looking at him because he's so young but she was leaning toward the one that does not develop melanin. We decided to wait on the test for now because the treatment (vision therapy, SPF, etc.) is the same either way. They did draw blood though to make sure he doesn't have Hermansky Pudlak Syndrome that is rare but sometimes goes along with Albinism and causes issues with bleeding and bruising. We haven't heard back on that yet but I'm sure it will come back negative.

The ophthalmologist appt. went pretty good too. They dilated Rocco's eyes and shined lights in them. The Dr. said he doesn't need glasses (I'm assuming because he's so young but he said it like there was a chance he could need them at this point). His eyes wander back and forth and the Dr. said that can probably be corrected with outpatient surgery before he's in Kindergarten if necessary. We go back in 2 months to get a test done that will give us more definite answers about his vision and how mild or severe his issues are. But for now, the Dr. put it at a 5 on a scale of 1-10 (with 10 being the most severe). He said we all have hundreds of wires that go from our retina (which lets us see) to our brain but someone with Albinism has some wires that are routed incorrectly. This is why they don't see images quite as sharply. The vision issues can range from mild (20/40 - my vision is worse than that!) to legally blind (and not being able to drive). But the appt. was generally positive and I left there with some hope. Please just keep Rocco in your prayers that his vision issues will be mild. The Dr. did say his development will be a little slower in his eyes than that of a baby without Albinism. He also diagnosed him with Oculocutaneous albinism type 1. I guess he could make this official diagnosis after looking at his eyes. Here's what that means:

• Oculocutaneous albinism type 1 (OCA1 or tyrosinase-related albinism) results from a genetic defect in an enzyme called tyrosinase (hence ‘ty’ above). This enzyme helps the body to change the amino acid tyrosine into pigment. (An amino acid is a “building block” of protein.) There are two subtypes of OCA1. In OCA1A, the enzyme is inactive and no melanin is produced, leading to white hair and very light skin. In OCA1B, the enzyme is minimally active and a small amount of melanin is produced, leading to hair that may darken to blond, yellow/orange or even light brown, as well as slightly more pigment in the skin.

And here is a little information about the genetics of Albinism (all of this info can be found at the website: http://www.albinism.org/).

The genes for OCA are located on “autosomal” chromosomes. Autosomes are the chromosomes that contain genes for our general body characteristics, contrasted to the sex chromosomes. We normally have two copies of these chromosomes and the genes on them – one inherited from our father, the other inherited from our mother. Neither of these gene copies is functional in people with albinism. However, albinism is a “recessive trait”, so even if only one of the two copies of the OCA gene is functional, a person can make pigment, but will carry the albinism trait. Both parents must carry a defective OCA gene to have a child with albinism. When both parents carry the defective gene (and neither parent has albinism) there is a one in four chance at each pregnancy that the baby will be born with albinism. This type of inheritance is called “autosomal recessive” inheritance.

For couples who have not had a child with albinism, there is no simple test to determine whether a person carries a defective gene for albinism. Researchers have analyzed the DNA of many people with albinism and found the changes that cause albinism, but these changes are not always in exactly the same place, even for a given type of albinism. Moreover, many of the tests do not find all possible changes. Therefore, the tests for the defective gene may be inconclusive.

If parents have had a child with albinism previously, and if that affected child has had a confirmed diagnosis by DNA analysis, there is a way to test in subsequent pregnancies to see if the fetus has albinism. The test uses either amniocentesis (placing a needle into the uterus to draw off fluid) or chorionic villous sampling (CVS). Cells in the fluid are examined to see if they have an albinism gene from each parent.

So now that you are either totally confused or know more than you wanted to know about Albinism, let's move on to some recent pictures of our little man!













Below is a picture of Nathan's new tattoo!



Also, we are baptizing Rocco on April 18th. The God Parents are Josh Waller and Kelly Doria!

Love,
Dawn