11q24 deletion syndrome and Apraxia

Update

2009-02-11T09:09:00.002-05:00

Alex is attending regular pre k a few days per week for half a day.

Go B!

Shocking!

2008-12-11T08:32:00.002-05:00

Alexandra lost her first tooth!! I had no idea she had a loose tooth. I see her playing with something in her mouth and asked her to let me see and then she pushed it with her tongue, I pulled it out.

She was very dramatic acting like she had surgery or something. She was happy the tooth fairy came.

The tooth next to that one is next!

Device and Language

2008-12-09T09:05:00.002-05:00

The device is working great for Alex she loves it and does communicate with it. She is so into it that she knows how to change all the settings and this being an older machine constantly freezes.

We have been doing a lot of signing with her and she is great at it she picks it up quick and tries to say the word. I am very proud of her.

Speech Device

2008-10-29T18:13:00.002-04:00

Alex got a device through the school and she is using it as if shes had it for months. It is through the school and can keep it until August next year!

Doctor Riski

2008-09-18T20:44:00.002-04:00

Today Alex visited doctor Riski and he is confident that Alex will talk normal!!!

We have to keep on her about practicing pronunciation with her. He found her to be a lot better than the times he has seen her before and was even confused how she can pronounce some harder sounds than other sounds that are easier.

I think she has gotten in his heart, he is working very close with her teachers and therapists, in a weird way I feel like he is a dad figure in this. He gets upset when she doesn't get enough therapies and it is awesome to have him so involved, people listen to him and things happen when he is on the phone.

I feel very blessed.

OMG!!

2008-09-12T20:21:00.002-04:00

My darling girl is doing awesome in special pre-k. Everyone loves her. I have titled her Social Therapist because she is so outgoing she is helping the other children. She gets them dancing, she starts games and gets them going.

I am soooo lucky to be her mom. I have always known she is special and not because of her chromosome or her Apraxia but because she has always shined from her heart out, she always brings a smile to the people she comes in contact with.

She got Star Student of the Month at school because she always ready and wanting to help.

I am soooo proud.

Her speech is improving slowly but I do hear some words become more clear. The communications device was denied twice by the insurance. I am contacting people to help me get one for her. The machine costs 8,000.00$ The school may be supplying one for her.

Alex's IEP

2008-04-23T14:01:00.002-04:00

She is going to Pre K if I can find one. The year is promissing to be a very hectic one with Occupational Therapy, Speech, Pre K Mon - Fri 8:30-11 then to the Speech therapist's TLC program 11:30-2:30 so I will have to pick the girls up at 2:15 at school and then drive 30 minutes to pick alex up. Then I don't know what days the children's hospital speech therapist which is one hour away will want to see her. Fridays after noon would be great but they don't work on fridays.

Will see how it all turns out. I am sure I can handle it and where there is a will there's a way.

Apraxia

2008-04-03T13:30:00.005-04:00

Alex has been officially diagnosed and she has Apraxia. www.apraxia-kids.org

We have to continue with speech therapy and find a way for her to communicate.

WOW

2008-02-27T22:48:00.002-05:00

I gave Alex some picture cards to look them up in a book and match them, she did wonderful! She blew us away, she has this particular way of looking and she points several times as if she was eliminating the wrong one until she found the right card. Finally she was not even doing that anymore she was looking and pointing. This was very cool!

GO ALEX!!

Potty Training Part II

2008-02-13T21:18:00.002-05:00

Alex has gone back to not using the potty :0(

I don't know what happened she was doing so great! I thought that by summer she would be totally trained and in the past week she is going on herself. Today she used the potty just once.

I am not giving up though. I will continue.

One more thing..

2008-01-29T21:34:00.000-05:00

...to forget about.

Alex's kidney sonogram's results are great! No Fluid! The genetics doctor said she doesn't have to see Alex again unless we want her to. Woo Hoo!

Now to the speech pathologist on March 14. He mentioned apraxia when we first saw him and with the news of the 11q24 syndrome I forgot all about it thinking that her speech was related to the syndrome; apparently it is not.

So let a new challenge begin.

Potty Training

2008-01-29T21:27:00.001-05:00

She is potty trained! it has actually happened!

Started training every time she seemed ready and stopped when she lost interest and when she turned 4 tried again and she is doing Super! she's had some accidents but she shows how dissapointed she is. Today she came home from school wearing a panty and she did not have an accident! the car ride is about 30 minutes.

I am so proud and happy!. I have been changing diapers non-stop since March 31, 1999, I need a break!

Potty Training

2008-01-14T09:03:00.001-05:00

Alex will go potty if she is naked from the waist down. If wearing a panty whe will not go. At school her teachers are helping and she went pottylast time she was there and she had her panty on so I tried for her to go before going home and she did not but on her way to the house she went on herself.

HAPPY 4th BIRTHDAY ALEX

2008-01-08T22:19:00.000-05:00

She is 4 now, I cannot believe it! My baby is no longer a baby.

The potty training regimen has been updated and she is doing good. My goal is to be done with this by summer or earlier.

Happy Birthday my baby!

GREAT NEWS!

2008-01-01T10:19:00.000-05:00

I found a new friend and her name is Erin and her daughter Olivia has the same deletion as Alexandra!

Erin has a group and has giving me lots of info. I no longer feel alone, now I feel blessed to have someone to talk to.

Field Trip to See Santa

2007-12-18T21:50:00.000-05:00

I went to meet with Alex and her teachers to go to the local mall to see Santa.

I found Alex on the spot to sing the weather song, now mind you that Alex can imitate sounds but not talk with words except Mama and Bobo (her paci) and she was making the noise to the music for the weather song, then she chose the weather picture and I also saw her participating in other areas.

It brought tears to my eyes. I am so proud of her.

At the mall she stood out for best behaviour, was not afraid of Santa and even hugged him.

School is Cool!

2007-12-07T15:40:00.001-05:00

The Speech Center does so much for the children and these ladies are SO loving towards them, I wish I could do something for them. I would love to build a new center because where they are is small and seems too tight.

So Santa if you are reading this blog..... 'ya know what to do, Thanks.

The Bio Dad

2007-12-05T09:46:00.000-05:00

Alex's biological dad has problems with her syndrome; he compares her constantly to other children.

He doesn't take her all the time and when he does she does not like to go.

There is not a lot new going on

2007-12-04T17:53:00.000-05:00

Alex is trying hard with her speech. Her speech therapist is very happy.

Alex is becoming more independent

2007-11-24T21:17:00.000-05:00

She opened up the fridge and got her own water today!! GO ALEX!!!

Entertainer

2007-11-23T13:50:00.000-05:00

That is my Alex. She moved some chairs in front of the fire palce and called us into the living room and put on a little show; she sang and danced.

I have been tempted to take her to a modeling agency to see how Alex would like that, she enjoys being in front of a camera. She does have a unique look.

It would not surprise anyone in the family if she ends up being the next Mandy Moore.... hey one can hope!

I NEED MONEY!!!!!!

2007-11-19T20:05:00.000-05:00

The Jacobsen Syndrome yearly convention will be held in San Diego, CA!!

I need to go! I need to meet parents and children of the Jacobsen Syndrome but for a family of 5 to go we need around 3,000.00 U$ plane tickets and hotel and food and car rental. I am pulling my hair trying to think of ways to get this money! I would have to sell lots of dolls and I mean lots of dolls to try to get this money; I have less than a year to do this.

WHY? why is it sooo important for me to meet this people? Here where I sit I feel very alone when it comes to this syndrome. I have had parents start to talk to me online and through emails but when they find out that my daughter is better physically than their children they don't write to me again. I want to see older children may be even adults with this syndrome.

I do not have a soul to talk about this with about my feelings, my worries, my tears, my prayers.

When I try to talk to people about this they don't listen they tell me she is ok and dismiss my feelings, I want to shout for them to listen that my feelings are real and my heart aches at not knowing when will she talk, will she go to a regular school, what can I expect?!! and she is not ok she is better than most but she still has a chromosome syndrome!

Ignoring it will NOT make it less real or go away!!! Yes, her motor skills are great and she is very smart (she understands and follows commands). The only obvious characteristic is her speech and facial features which to the un-trained eye is no different than you and me.

Going to this event will help me cope with this and I also think Alexandra deserves to meet children that have similar characteristics to her. This would be great for the whole family.

Alex's Story

2007-11-18T13:15:00.000-05:00

In 2003 I found out I was pregnant with my 3rd daughter, in the first trimester I spend month at the doctors because I started spotting and found out that my HCG levels were not increasing the way they were supposed to and an ultrasound revealed that the baby was too small for the gestation time. A doctor said that I must have found out I was pregnant too early.
The rest of the pregnancy went well and at the end I was 4 cm dialated and was not going into labor. The day after my due date I was induced.

Alexandra Gabrielle was born weighing 7.12 lbs and measuring 19" she came out crying and then stopped and they got her to start again. She was a healthy child there were no physical problems. One day it hit me that she was old enough to hold her bottle but she wasn't I dismissed it. She walked at 15 months, her sisters walked at 8 months (Yasmin) and Kayla at 10 months but I just told myself that they develop differently and did not worry. When Alex started to walk and still she was not talking I started to worry and decided to give her until she turned 2 yrs old.

2 yrs old and only babble, I worried and brought it up at the pediatrician's office. I got not much help from them I was told after the speech evaluation showed Alex's speech is very delayed that Alex needs an audiologist. The pediatrician's office was horrible with the refferal so I went to the Children's Hospital of Atlanta website and found Dr Riski and emailed him my story and he was beyond helpful he put us in touch with the right doctors and Alex got a chromosome test, hearing, xrays etc...

December 2006 I picked up the cromosome test and read the words retardation and 11q24 cromosome and losted. I had to wait until we saw the genetics doctor to get the english version of what was happening.

That night I did not sleep I cried all night she fell asleep in my arms that night... I could not put her down all night I wonder what would her life be like, who would take care of her when I am gone? Would her sisters help her out? Would she have a normal independent life?, a career? Love?, Children? What will her quality of life going to be like? Would she ever talk?

Today, Alex is a super girl. ALex is one of the happiest most loving, helpful, respectful, fun child you will ever meet. She is a wonderful human being. She still not talking, she says Mama and immitates a lot of sounds. Physically she is 100% her organs are great last we checked her hearing is good also. Right now our biggest problem right now is getting rid of the paci.

Welcome

2007-11-18T12:36:00.001-05:00

My daughter Alexandra was born with 11q24 deletion syndrome. Alexandra turned two yrs old in January 8th, 2006 and other than sounds like: ae, ish she was not talking. I worried and talked to her pediatrician who said her niece started talking at three yrs old and I had nothing to worry about but if I was really concerned she would referred me to a Speech Center.

Alex got evaluated and almost immediately was reffered to Babies Can't Wait and from there she got speech therapy here at home. The only glitch was that the program is only for children up to 3 yrs old and when Alex turned 3 the goverment became her program. She was placed into a special ed program and she cried the whole 3 hours she was there, she did not like the teacher at all. We got a different teacher and this time neither of us were happy. This teacher wanted me to stay in the classroom with Alex and move my chair slowly towards the back of the room until I was out of sight, when that happened Alex cried and plan two was to get me out of the classroom altogether......Success! the last 3 days of school she did better.

Summer came and Alex went to the speech center with the speech therapist that used to come to the house and Alex got comfortable very quickly, the program was for a month and the month of July Alex was home with me and her sisters and by the time August got here and it was time to place her in Head Start and although her teacher turned out to be wonderful Alex cried the whole time (Alex only goes to school 2 days a week for 3 hours) so I asked for Alex to be placed back with Ms Diane at the Speech Center and thank GOD! the stars were aligned and I finally got my wish after months of trying to convince people to let her go there.

It took Alex a bit of time to get adjusted but she is doing great! she is happy there and trying very hard and working very hard at immitating sounds.