About a month ago Ryan, Ruby, and I went to Mt. Sinai for genetic counselling. This is a common step after an Aniridia diagnosis, because in some cases, Aniridia appears as part of a larger syndrome called WAGR.
WAGR syndrome* is caused by a mutation on chromosome 11 — several genes in this area are deleted. If we think of our DNA as a library, imagine chromosome 11 as a book. Within that book, certain chapters are deleted. When you flip through the pages, chapters on eye development (PAX6 gene) and Wilms’ Tumour (WT1 gene) just aren’t there.
These missing chapters can result in:
- Wilms’ Tumour (cancerous kidney tumour)
- Aniridia (lack of iris)
- Genitourinary anomalies (genital/urinary system abnormalities)
- Range of Developmental Delays
50% of children with WAGR will develop Wilms’ Tumour. To monitor, ultrasounds are required every 3 months until a child reaches 8 years of age, and at longer intervals thereafter. Most cases are diagnosed by 3 years of age.
*Again — I am not a doctor. This is my best understanding of information I was given, but I cannot or do not pretend to provide medical advice. Please visit WAGR.org or talk to your doctor for more information.
Our goal was to figure out if Ruby is missing those chapters all together (deletion = WAGR), or, if there are simply a few spelling mistakes that will only result in her Aniridia.
Ruby’s case is interesting because she has Aniridia and one kidney. We know that the eyes and kidneys develop around the same time, but we don’t know if these two anomalies are linked in any way. What we hoped to find out is if Ruby’s single kidney put her at an increased risk of having WAGR.
Ruby had blood work taken after our initial consultation. It would take 2-4 weeks to hear back.
This past Wednesday while shopping at Costco with mom, my phone rang. It was Ruby’s Geneticist Dr. Chong calling with some great news: Ruby does not have WAGR.
Mom and I did a happy dance right in the middle of Costco. To anyone who didn’t know what was going on, it must’ve looked like we were reaaaaally excited about that giant sized bucket of mayonnaise on sale. Ruby just sat in her stroller with an expression that said, “common duys… I knew dis all along.”
We’re doing additional blood work to better understand what spelling mistakes occurred in the PAX6 chapter to cause the Aniridia.
Dr. Chong is speaking with our nephrology team to determine whether or not we also need to look at the WT1 chapter (Wilm’s Tumour), given that Ruby only has one kidney. However, based on Ruby’s results, we were told that she has no greater likelihood of having Wilms’ Tumour than you or I do.
Ryan and I are getting ultrasounds done to see if either of us only have one kidney. This could be enough to explain why Ruby might have one too.
We’ll continue to monitor her kidney as she grows to ensure it stays healthy, but, we won’t need to do this every 3 months, worrying about when Wilm’s Tumours may appear.
What we’ve learned
While we received good news with this phone call, there are parents out there who will hear otherwise. Waiting for this information, I felt how it might feel to be one of those parents.
I feel so much empathy and compassion for these families. I also feel so much admiration for their courage, perseverance, and unconditional love.
Aniridia is something Ruby will live with, and live well with. Childhood cancer demands an entirely different level of bravery. I’m so grateful that Ruby doesn’t have WAGR, where we’d live with that 50/50 unknown. If that were our reality, I’d be hugging my baby even tighter every morning and every night. And now, without that diagnosis, I’ll be doing the same thing. Every moment is so precious.
I came across a great blog, Wonder Baby, whose author Amber Bobnar provides a great perspective on those precious moments in her post “What I Wish Someone Had Told Me When My Child Was First Diagnosed with a Disability.” If you have a few minutes, I encourage you to check it out.