Simple answers: We got the results of our genetics tests today. They found the gene responsible for Cicily's body. POLR1C (Maya has nicknamed it "polEric" for us). It's a gene involved in replicating proteins. It's a recessive gene that Chris and I both passed on to Cicily. POLR1C has caused 8 known people to have the brain issues Cicily has. POLR1C has caused 3 known people to have the facial features Cicily has. Cicily is the first known person to be affected in both ways. Chris and I have a 25% chance of having a child affected by POLR1C.
Good news is we have 8 people out there we can talk to about leukodystrophy and possible things they're doing to improve quality of life. We have a community!
Bad news is we can pass this on to future kids. We have wanted to have more kids. Chris and I have felt like we should hold off on that and today that door slammed shut.
2 comments:
The good new is what a blessing of love, hope and inspiration the entire Watkins family is to the rest of us. ��
Hugs to you Janalyn - I know that you must be hurting inside. Please just know that you and Chris and your girls - all three - are an inspiration to so many of us in so many ways. Life can be so hard - and apparently we signed up for it! Love to you all
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