I had written a blog entry about Abram's Diagnosis that we received on New Year's Eve. I had made it my mission to find out what 'it' was that was affecting my son's development by the end of 2013. We'd been fighting for an answer since the day he was born in the summer of 2012 and I was not expecting the flood of emotions that I would feel after getting a diagnosis that involves a rare chromosomal disorder due to a micro deletion of Chromosome Seven; labeled as 7q31.31.
This diagnosis explains many of Abram's other diagnosed issues such as global developmental delay, his hypotonia as well as quite a bit of his behavior issues but unfortunately the Macrocephaly and the Cystic Lesion in his brain are unrelated. Alas, we are doing all that we can do to monitor that situation but I must admit that as I was reorganizing Abe's medical records yesterday, my gut dropped to see pineocytoma there in black in white under what we discussed with his Neurosurgeon in November.
I think I've been in a bit of a shock. I read and re-read the pamphlet from Unique about the commonalities of diagnoses, symptoms, etc and it was relieving to read quotes from parents who have children with a similar diagnosis. A lot of what seemed unanswerable to most of our doctors was explained, finally. I was prepared to get not so good news and even though these issues of Abe's are life-long problems, it was a big burden off my heart to know officially that this was indeed just how my son was made and not caused by his traumatizing birth. There was nothing I could have done to prevent his disorder and that alone was worth the struggles and fight we had to get here!
It hurts deep to know that the things that make your son hurt and struggle cannot be 'fixed' or 'grown out of'. It is world crushing news. It is hard and it hurts and I have days where I felt like I was ready to be okay with it and other days where I wanted to feel sorry for myself, my family and my son. Last Monday, I talked about my feelings with my favorite AEA gal and she made me realize that its okay to grieve, that it IS painful and that in order to move on, I needed to grieve that loss. It was then that I realized I hadn't let myself cry and that my husband and I hadn't even really talked about it. It hurt too bad. Friday we finally talked about everything. l had a good cry and I woke up in a different place and am trying hard to stay there.
Abram is a lot more than a long list of symptoms and diagnoses. He is a wonderful, brilliant little boy whose smile lights up the room. He is clever, funny and spontaneous and has already taught me a great deal about the importance of living in the now and the value of patience and persistence. He has come a long way in the last six months and I can't wait to see how far he goes with his therapies in 2014.
I am thankful for my little boy and all the amazing people he has brought into it. Motherhood has been a crazy ride so far and I wouldn't change any of it for the world.
Hi! I'm Erin. I'm Abe's mama, a tireless advocate for UBE2a Deficiency Syndrome and a fierce proponent for medical cannabis.
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