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.


Jennifer said...

This is great that you took the time to cover all this ground. I hope it helps someone who is learning about this in their own life and helps bring awareness to the rest of us!

Anonymous said...

Hello! My name is Diane, I have a 2 1/2 year old with a 6q26 deletion. He also has hydrocephalous as well. I would love to talk to you some more about our children! My email is Thanks!

Monkey said...

Hello, my lil one also has a deletion of 6q27. She was fine untill she missed her milestones like independent sitting . She is now 11 months old and she needs support to sit. How can I contact you. I don't know if she has hydrocephalus . We are going to see genetics in a few days. Maybe a possible MRI.

debbie r. said...

Just found this. My daughter L was adopted from Russia at age 2 1/2 in 2000. She is nearing her fifteenth birthday. About her first 2 years, I know nearly nothing. She has FAE and attachment disorder. She walked at 20 months, has hypotonia,scoliosis, had strabismus surgery, therapies, etc.......which I had to fight to get. Potty training didn't happen until nearly 5 years and full bowel control (question of physical or psychological/language issue) until nearly 7.

We spent the last year doing testing bc I found drs who listened to me. They found the microdeletion 6q26 with the PARK2 gene marker. They tell me she has the chance to develop juvenile parkinsons. She is only missing a tiny piece, but her problems are more severe cognitively than most kids missing both 26 and 27.

She is on the level of a 7-9 year old and will likely stay there. Most people do not see anything different about her because she looks mostly normal, but has severe language disorder. In the past two years she began to pull out her hair. We are in therapy to help her discern and articulate her feelings and learn to deal with them in a positive way.

I don't really know which parent had the deletion, but suspect it was not a fluke because she had siblings in "special schools".

It is difficult navigating these teen years because she is not really a teenager. She will never live alone.

Our geneticist gave us a handout from UNIQUE at

For all of her obvious and now confirmed brain damage, her MRI was unremarkable.

So like all of us, she is still an enigma. Wouldn't we all like a roadmap through these mysteries?

I'm a mom of 7 (6 bio) and grammie of 4. But after twelve years of parenting this special kid, I did not learn anything from these tests except that they confirmed what I had known. But no answers for the future. Would love to be in touch with other moms with kids having 6q26.

Hang in's a wild ride.
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