So you find out your child has a condition what ever it may be and you start asking questions such as what next and where do we go from here.
In my husband’s case Nash’s life flashed before his eyes thoughts like:
- How good would his vision be?
- Will he ride a bike?
- Will he drive?
- How will other children interact with him?
Now that he is a one-year-old and we can see what a little character he is I have no doubt in my mind he will be just as able as any other child. The bike, the driving, the vision don’t really matter in the end, maybe his vision will be a lot worse or a lot better than we expected and if it is a lot worse then yes he will not be able to drive. My brother doesn’t drive and at 34 years of age I know he does just fine. There may come a time when wanting to ride a bike and not being able to become a reality (I hear it is incredibly hard when your depth perception isn’t great and your vision never stops moving) but there are other activities and sports he can turn his attention to.
My husband and I started doing a lot of research so as not to get carried away with how terribly debilitating this would be for Nash. When Nash was first diagnosed with Ocular Albinism we found a Facebook group of the same name to join and we signed up for NOAH (National Organization for Albinism and Hypopigmentation) both were incredibly helpful. Next we were referred to the genetic department at Texas Children’s in Houston. The eye specialist there is known for working with persons with Albinism, one of the positives of living in Houston. In order to confirm the diagnosis of Ocular Albinism the specialist had to check my eyes. A mother who is a carrier for the defective gene causing Ocular Albinism presents a motting of pigment in her retina, he told me it looked like a mosaic. The results of this showed that I was not a carrier and therefore Nash had a different type of Albinism.
The Ophthalmologist suggested OCA2 and was directing the geneticist to search for the genes responsible for this type of Albinism when testing came about. We decided at this time to put the genetic testing on hold for various reasons. At the end of the day there is no cure for Albinism, no one can magically re-route Nash’s optic nerves or lessen his photophobia and the treatments are all the same.
During this whole period of ophthalmologist and genetics appointments a good friend informed me of a program called ECI (Early Childhood Intervention Program). I don’t know if ECI exists in every state but they have been a wealth of information for us. They provide free services up until the age of three to children who are visually and hearing impaired. I love chatting with Nash’s ECI visual impairment teacher, she reserves no judgements and offers no pity. Her job is solely to help with Nash’s development and keep us on the right path.
In the end all I can say is the diagnosis of Albinism isn’t a life sentence for your child. It is scary at first, luckily this wasn’t our first rodeo with a baby because let’s face it that’s scary enough, and as most of us all know it is daunting going into the unknown. Thanks to the age of the internet and social media there is so much information out there it’s just a case of knowing where to look.
(Picture above is a black and white photo of Nash being held by his big brother on the sofa, Nash looks scared).
2 thoughts on “Albinism diagnosis and beyond”
Thanks to the age of the Internet, as you said, and thanks to mommies like you who share their stories so others can feel less alone! And Jack’s face in that pic…priceless 🙂