Today was our meeting with Reese’s genetics doctor at Primary Childrens. We received a call a few weeks ago about her diagnosis so we had researched it as much as we could so we already knew a little about it. There isn’t much out there…
Like many chromosome deletions 5q22- causes developmental delays which we have already seen in Reese. But we did learn that her deletion is much much more rare than we expected. There are only 50 reported cases in the entire world of people that have a deletion in 5q. Which means we don’t have a whole lot to go off of. The biggest and most important information that we came home with is that Reese only has one APC gene…. what does that mean? It means that she is basically 100% more likely to get colon cancer in her lifetime…. yuck! We will be working with a team from the Hunstman Cancer Institute to screen and check on her colon starting at age 10 or sooner. Her deletion is pretty big and contains 60 genes, Her Dr. will be researching more about those genes and what they do. We may see some things down the line that are also affected by her syndrome. We will just keep taking it step by step.
So many questions came to our minds today…
Will she walk or talk?
Will she be able to live on her own or will she always need assistance?
Will she grow up get married and have babies? Will her babies have similar deletions?
Do we have a chance of having another baby with a chromosome rearrangement?
All these questions came to the same answer… whatever happens… We will be her biggest advocates, we will love her, kiss her, hug her, protect her and give her the best life she could possibly have. She has never been a burden but a HUGE BLESSING in our lives… We wouldn’t change her if we could. Id take 10 more just like her. We feel very blessed if not indebted to be her parents.
We love you Reese… We are so proud of you! You are such an example to us and we only pray we can be worthy of you!
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These meetings are never easy, and it sounds like you had a lot of really difficult things to take in. I am sure most of the parents here can relate when you describe the uncertainties that only time will answer in full.
It is clear that Reese is very lucky to have the parents she does. Our children give us the gift of seeing life through a different lens and help remind us that nothing should ever be taken for granted. Thanks for sharing and be sure to keep us posted!