Our Amazing Little Baby, Alex

This Blog

Please note this blog is not intended to give medical advice.  It is a way for us to keep family and friends updated on Alex and his journey with Aniridia.  We are so blessed to have this little boy and his big sister in our lives.  They bring us so much happiness every day.

Summary of first several days

8/21/2011: Alex is born

8/21/2011: First chest X-ray.  Alex is placed in Special Care Nursery due to rapid breathing and low glucose.  These were not related to Aniridia and most likely due to fluid in the lungs not removed during birth. 

8/22/2011: Oxygen hood removed in the morning and Mom allowed to breastfeed Alex in Special Care Nursery.   That evening Alex is able to “room in” with Mom and Dad.

8/23/2001: Alex survives first earthquake at hospital before we were discharged.  http://earthquake.usgs.gov/earthquakes/recenteqsww/Quakes/se082311a.php

8/23/2011: Mom and Alex discharged from hospital with follow up appointment scheduled with Pediatric Ophthalmologist the next day.

8/24/2011: First visit to family Pediatrician

8/24/2011: First visit to Pediatric Ophthalmologist – diagnosed with Aniridia

8/25/2011: First abdominal ultrasound to check for Wilms tumor.  No tumors found at this time.  Alex will need to have ultrasounds every 3 months to check for Wilms tumor.

8/27/2011: Alex survives first hurricane. http://en.wikipedia.org/wiki/Hurricane_Irene_(2011)

Diagnosis - Aniridia

Alex was born on August 21, 2011.  During the exam to discharge him from the hospital, the Pediatrician noticed that his eyes were fully dilated.  We were referred to a Pediatric Ophthalmologist  (Ped Op) for the following day and Alex was diagnosed with Aniridia at that appointment. 

Aniridia is defined as a congenital absence or partial absence of the iris.  Aniridia is rare. Its incidence is between 1/50,000 and 1/100,000. The genetic defect has been found to be a deletion on chromosome 11.  Approximately, a third of all cases of Aniridia are sporadic (neither parent has Aniridia).

When a child is born without a complete iris, it is usually a symptom of a broader condition. Known as aniridia, this condition can also be a sign other parts of the eye are underdeveloped as well. Moreover, recent research shows that the gene involved can also affect the kidneys, pancreas and forebrain, so aniridia can coincide with a range of symptoms known as WAGR syndrome.

Many aniridics have developmental and ocular abnormalities and may exhibit the presence of one or more of these conditions:

·         cataract

·         lens dislocation

·         foveal dysplasia

·         optic nerve hypoplasia

·         corneal pannus

·         glaucoma

·         nystagmus

·         Wilms Tumor

·         WAGR Syndrome

More information for these conditions can be found at http://www.aniridia.net/whatis.html.

Where do we go from here?

We have scheduled an appointment for September 28 with a Ped Op at Duke that specializes in Glaucoma.  The Ped Op that diagnosed Alex suggested we get a second opinion and we are also hoping the doctor at Duke will be a good fit for us for Alex’s long term care.

We will talk to the Genetic Counselor at Duke over the phone next week to see when we can schedule genetic testing to see if Alex has WAGR Syndrome.  http://www.wagr.org/images/Aniridia_-_The_Genetics.pdf

Alex will need to be tested every 3 months to check for Wilms tumor.  He will also require frequent follow up appointments with a Ped Op to monitor him for the possible ocular conditions he may develop.

He will need to wear sunglasses and a hat while outside due to sensitivity to light.

It is still too early to see what level of vision Alex has.  We will just have to wait and see.  We would appreciate if you can keep Alex and our family in your prayers.

Resources

There is a lot of information on the internet for Aniridia.  I think the most helpful resources have been the United Families of Aniridia group on Facebook and the Vision for Tomorrow website.  If your child is diagnosed with Aniridia, I highly recommend connecting with these groups.

• Vision For Tomorrow: www.visionfortomorrow.org
• Aniridia Foundation International: Aniridia Network International: www.aniridia.net
• Aniridia Network International:  www.aniridia.org
• International WAGR Syndrome Association:  www.wagr.org
• Groups on Facebook:  United Families of Aniridia; Team Iris : Aniridia Awareness