Tuesday, April 1, 2014

Wow time flies!! I haven't posted in 4 years?? Can that be? What the heck have I been doing???? Oh  yeah raised four kids and building a career. But still four years! So....what's new??? Everything! Moved twice. Had one child go to college and move off to his grandparents. Became the foster parent of an adult young woman with disabilities. Changed jobs twice. I began working from home three years ago and I LOVE that. I didn't love the pay or hours of the first job but just took an AMAZING new job with great pay, benefits, flexibility..a mother's dream. Husband had gastric bypass and dropped 200lbs.Hubba Hubby :)

Saturday, May 1, 2010

Exotic and rare

Labels...before Jake was "Fragile" now he is considered "extremely rare" like some exotic creature. Jake's neurologist said wednesday that he believes Jake has Kabuki Syndrome on top of Fragile X. How many more labels can one little boys genes require? So far we are up to three rare conditions...Fragile X, Kabuki, Pseudotumor Cerebri...and the less rare but still a major pain..Celiac disease. The odds of a child having one of the three big ones are unlikely. The odds of a child having all three....unheard of. I swear next time we are at the hospital I am going to charge all the interns admission to come in and stare at him and build Jake a nice trust fund!

Wonder by Natalie Merchant
Doctors have come
from distant cities
Just to see me
stand over my bed
disbelieving what they're seeing

they say I must be one of the wonders
of God's own creation
and as far as they can see they can offer
no explanation

I believe Fate smiled and Destiny
laughed as she came to my cradle
"know this child will be able"
laughed as my body she lifted
"know this child will be gifted
with love patience and faith
she'll make her way"

people see me
I'm a challenge to your balance
I'm over your heads
how I confound you
and astound you
to know I must be one of the wonders
of God's own creation
and as far as you can see you can offer me
no explanation

Wednesday, December 16, 2009

IEP progress

Jacob had his IEP meeting yesterday. What was a fiercely contested battle has slowed to a simmer. Now that everyone has gotten to know Jacob well there is far more agreement over what he needs. Finally even the autism consultant agrees he hates discrete trials and that Jacob is not "typically" autistic. The school finally agrees that while Jacob needs a lot of time his services do not require a large financial investment and have agreed to invest the small amounts of money necessary to have him remain in his current program. Jacob has gone from being viewed as a tremendous challenge educationally and legally to being seen as the impetus for a positive change. His arrival in this district has helped the school design its first comprehensive program for children with special needs. We still have a long way to go but we're headed in the right direction :)

Sunday, December 13, 2009

Dos Equis

We now have two out of three children with full mutations. Oddly the youngest was diagnosed first three years ago and in revisiting the Fragile X Clinic at Boston Children's we decided to have everyone tested. While its hard to hear the diagnosis I can't say that I am shocked. It answers a lot of questions about this particular child. (Which I have not named here because we are waiting to reveal the results to the children until after the holiday with the genetics counselor because she is so wonderfully sensitive to our children and how they feel about having Fragile X and having a sibling with Fragile X.

My mother who passed the gene to me is taking this quite hard. She described herself as a worm that infected her family. I think that is incredibly harsh, partly because if that is true of her than it would be true of me. She feels that if she could have known she could have prevented passing the gene along. I say you can't see this in hind sight. I went to genetic counseling before having my third child because one of the other children had learning and behavioral issues. I had all the genetic tests. All the ones they do if you DON'T have a mentally handicapped relative. Of course Fragile X was not among these. And in the end, the child with the learning and behavioral issues...is my only child who does not carry the gene at all. That child has 26 repeats. I have 92. The other siblings are fully methylated above 200 repeats. The is the child I was safest with, did all the right tests, ate all the right foods, and read all the right books for is the most affected. It's not something anyone goes looking for. Maybe it should be but honestly on my worst day, with everyone's special quirks driving me up the wall, my own included, I wouldn't wish it away. I would wish for life to be easier for my children, and would wish people to view them as the incredible, wonderful and amazing people they are without prejudice, but otherwise, I love every little oddness, every little uniqueness, everything that sets them apart just the way they are. Mothers of Fragile X kids see their children in a way that no one else sees them, not grandparents, not cousins, not friends. Its like Xray vision. We see through the preservative habits, the idiosyncratic speech, the temper tantrums to see angels. There is a light, a pure joy that surrounds these children. I pray for the day that medication is developed that helps my children succeed academically and navigate the world more easily but I also pray that it does not diminish all that is beautiful and special about them. My mother sees me tied closely to home and routine. This Friday she dragged me out to the movies with the kids, three out of four of them, the youngest home asleep. She says I need to get out. She doesnt understand that after a day in "real world' working in an inner city clinic that coming home to watching the same video for the 1oooth time this week, baking our gluten-free bread, giggling and laughing at the same joke that was as funny to one of the kids at 6am morning as it is at 6pm is as much my sanctuary as it is my prison.

Saturday, November 28, 2009


Since beginning the Zoloft Jacob has seemed more aware of the things around him and interested in a more appropriate way. Recently he has learned there are other itemsthat are not food to be found when shopping. Before taking Jacob shopping was only a challenge because he would get bored and act out by knocking over items or making noise. Lately this has been somewhat better, the noises are happy noises because he realizes there are toys and books and movies in some of the stores. On a recent trip to Walmart we discovered the beloved Buzz Lightyear action figure. Now his providers want me to have his vision evaluated for depth perception and distance but let me say he honed in on that Buzz Lightyear from two aisles over and then promptly grabbed my hand and gestured that I bring him in that direction. He pointed to it. I said "Do you want to go see Buzz?" he replied "yeah". Noticing Buzz was on sale for $20 less than all the other stores I asked, "Would you like to look at Buzz?" Another "yeah" I said "Would you like to take Buzz home?" I got an immediate "YUP" combined with the sign for please. Yesterday we went to a local discount store to look at Christmas decorations. I passed by a table full of items and Jacob dragged me toward the table. (He was in his wheelchair and he still dragged me) At the end of the table stacked on the floor were Christmas trains. (Jacob had previously broken our Christmas train) He grabbed the four foot by two foot box and placed it on his lap and said "I go, choo choo". From the glint in his eyes I could tell, "I go choo choo" really means, "I go home with choo choo" and "you're all done shopping because I really want to go home and play with this." Thankfully the train was ridiculously inexpensive. Other requested items were denied. My boy is fast becoming a shopaholic. I can see that our outings will be limited and there will be tantrums ahead as not everything can "I go" with us. While this all brings new challenges I am thrilled that he is understanding he has the power to request with words rather than tantrums and seems more aware of the process of shopping. He has also been handy in helping to load items into the shopping cart while grocery shopping. Its cumbersome to take him and be slowed down but we have always felt bringing him often helps him access the community and builds life skills. Hopefully we have not created a shopaholic of kleptomaniac in the process :)

Friday, November 27, 2009

Turkey Tracing

This morning Jacob got a notebook, a pen, and placed his hand on the paper and began to trace it. I imagine this might have been something done in school to make the traditional handprint turkey. The fact that school has been out for two days and Jacob initiated this one his own and enjoyed it is a HUGE step for Jacob. Previously he had no interest in writing or artwork of any kind, also he would rip paper, or make marks on objects such as the sofa, or newly painted walls. But this...this is GOOD...this is PROGRESS. I am so amazed and proud. Now to parents of a typical child, a turkey hand tracing by a six year old is just common place. But to those of us with Fragile children...this is just huge. Disclaimer....the pictured handprint turkey is not Jacob's we did not get this involved at the breakfast table.

Sunday, November 15, 2009

Conquering Textures!

Whoohoo! We conquered some textures today. Jacob has been on strike against any rice or noodle product for three years! I can understand the noodles now that we know he has Celiac. Maybe that was just instinctual but even when we make gluten-free noodles, he's resisted. And he used to beg for rice when we would go out to Chinese restaurants. Then all of sudden at three he began gagging and refusing certain textures. These included rice, pasta, vegetables unless they were pureed, scrambled eggs.

Today, VICTORY!!!

Jacob ate Golombki for lunch. Its a polish food that is hamburger, rice and onions mixed with a bit of tomato sauce and wrapped in boiled cabbage with a little more tomato sauce and a sprinkle of cheese. He ate two large golombkis. Maybe because the filling tastes like pizza his favorite food. I use a lot of garlic. Or maybe his polish gene finally kicked into gear :) Or maybe the Zoloft is helping with this as well. I tried giving him a piece of the cabbage with no meat because he has always like meat. He at it. I gave him a big slippery, stringy piece thinking for sure it would get rejected, fully expecting him to gag, and NOPE. Then hamburger that had a lot of rice in it, he begged for MORE. ??????????Go figure. Whatever has changed I LIKE IT.