Wednesday, July 20, 2011

More about the 6Q26 and 6Q27 deletion...

I noticed the other day that someone found this blog by searching for 6Q26 - in other words, Natalie's gene deletion.  She is missing 6Q26 and 6Q27, but I wanted to touch back on this for just a minute because I remember googling for information about her deletion.  I remember that the doctors couldn't tell us much about what to expect for Natalie.  They couldn't tell us how she would develop, if she would ever walk or talk, be able to live normally- and it was a scary time for me as her mother.

I found out about Natalie's hydrocephalus near the 20 week mark of my pregnancy.  The second half of my pregnancy was filled with lots of crying.  There's the idea that you need time to mourn your "perfect" child, and I think I did do that.  Natalie was born by c-section around week 36 of my pregnancy.  She spent some time in the NICU and didn't have her shunt placed until she was more than a month old.  When she was in the NICU, they found that she had a tethered spinal cord and a mass on the end of her coccyx.  These three features together were enough for the geneticist to be curious, so she took a sample to do some testing.  It came back that 6q26 and 6q27 were missing.

Natalie is two and a half years old now.  She walks, she talks, she is absolutely amazing.  She's affectionate and funny.  She has had a shunt placement.  She has had two shunt revisions.  She has had a surgery to de-tether her spinal cord and remove the mass on her coccyx (which turned out to be a benign teratoma).  She has had one surgery to straighten her eyes because she's farsighted and we didn't know it until her eyes crossed.  She wears glasses.  She goes to physical therapy, occupational therapy and speech therapy. 

She didn't sit up on her own until her first birthday (December 3), but she was walking on her own by the end of the next summer.  As of her second birthday, she only said about a dozen words. (A few months of speech therapy later and she's well over a hundred.)  She can feed herself with her fingers, but is still working on using a fork and spoon.  She gets it to her mouth, but like most kids, a lot ends up in her lap or on the floor.

She has seen just about every specialist they can come up with.  She has had studies done of her heart and her bladder.  She has a developmentalist, a neurologist, a neurosurgeon, an ophthalmologist, a urologist- along with her pediatrician and dentist. 

It's not the quietest life, we're busy with her therapy appointments, we have something three days a week.  We were down to seeing her neurosurgeon once a year, but then she had a shunt failure and we're seeing him again this week for a follow up from seeing him in April.  Most everyone else she only has to see once a year, though.

I really don't want this to sound like our life is depressing.  It's a lot of stuff, but it is entirely manageable.  Being at home with Natalie, I never think, "She's SO behind!" and when she reaches milestones, I don't think, "It's about time!  She should have been doing this months ago!"  She is doing things in a very normal way, but on her own timeline.  She works hard, and is just as excited about new things as her sister was.  Her hair grew in over her scar from her shunt replacement, and it's easy to not think about it.  She's just a kid doing kid things.

I tend to be a worrier.  I have memorized the possible signs of shunt failure, and I've seen which signs she exhibits when she has a shunt failure.  I am always keeping an eye out for these things.  I also know what I need to do in the event that she has her first seizure.  I'm sure I'll be terrified, but I know what I need to do. 

It's important to remember to keep small goals and steps.  Really, take things one at a time.  It can be overwhelming.  Ask lots of questions when you are with the doctor.  Find out what kind of shunt your child is getting and why the doctor is picking that type.  Write things down, it's easy to forget when you are overwhelmed with the emotional aspect of things.  Get your child enrolled in your state's Birth to Three program.  There are different names in different places, but you should be able to find it with your pediatrician's help.  And what helped me the most was talking to friends about what I was feeling and what I was going through.  It was a really hard time because it was a giant upset to my life.  I was never going to be the mom of a child with special needs.  Stuff like that never happened to me.  But then, it did happen.  About three years after I found out about the hydrocephalus, we're fine.  We're a happy family.  She's healthy.  She plays with her big sister and irritates her big sister in normal little sister ways. 

I don't know that this will answer any questions of a new parent of a child with this deletion, but I realized I hadn't talked much about it since we were in the heaviness of it while it was happening.  Please feel free to comment and ask questions or even let me know if you'd like to email privately about it.
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