Bad Germs…Bad!!

The cold that has circulated amongst my heathens have finally trapped me and laid me out.  Evil nasty thing!  I knew it was going to happen on Thanksgiving.  Those mommy senses were tingling.  And when I had to run my dogs home and I wasn’t wearing a coat I knew I had just sealed my fate.  Friday I started sniffling. By Saturday morning I was the weakest link.  Today I am not so bad. I’m not near as weak but I’m stuffy and headachey.  If I’m going to be sick at least it is on the weekend.  Hopefully by tomorrow it is tolerable.

Matthews Doc Appt

The appointment for Matt went okay yesterday.  His pediatrician wanted to see us so we could discuss the seizure and make sure we were all on the same page on what we felt he needed.  So this is what we decided:

• EEG ~ out = Matt would have to be awake and there would be no way that he would allow them put that cap on his head.
• MRI ~ out = it would be an all day ordeal.  He would have to not eat after midnight.  Then he would have to have an IV and be sedated.  The test would take 1+ hours.  Then he would have to wake up and get moving.  Then we would have to get him home and watch him to make sure he had no adverse effects to the anesthesia.
• See a neurologist ~ out = We would have to wait months to get an appointment with the sole specialist in our state.  It would also be an all day event.  We would have to drive 3 hours to see him/her.  And they would want to run an EEG and an MRI
• Drugs ~ out = his pattern is about 1 every five years so it’s doesn’t constitute using meds on him.

His pediatrician knows that we refuse to use drugs unless it is a necessity.  We like to use other means of dealing with challenges.  If we have to resort to meds though we will.  So we discussed petit mals, aka absence seizures, and their effects on the body.  We created a plan so that we both knew when we would begin testing or medications if need be.  I feel really good about it all.

Holidays Kill Brain Cells

I left for work this morning around 7:30 a.m.  I kissed Kevin good-bye.  In his hazy sleepy state he said, “Be careful.”  I told him I was fine.  It didn’t snow and there wouldn’t be any traffic since there was no school and most businesses are shut down today. 

Boy was I WRONG!!

I got into the city and OMG!  Every parking lot was packed with Black Friday shoppers.  Complete and total insanity.  I thought I was going to have a nice relaxing slow drive through the city.  Heck no.  It was mayhem. 

I got to work, which is on the opposite end of the city, and wanted to kiss the ground.  Phew.  I’m taking a back way home.  That is a battle zone.

Thanksgiving Thankfulness from a FX mother

I have so much that I’m thankful for every day.  Obviously my 4 kids and my husband are #1.  Despite all the trials my kids are some of the best kids I know.  I’m so proud of them.  And my husband is literally heaven sent.  I prayed for certain qualities in a man and I found him in less than a month on Yahoo! Personals four years ago.  He has been supportive of all of us.  This family is truly a team.

I’m thankful that I have a roof over my head. A van in my driveway.  Food in my cupboards.  My hubby and I both have jobs that have most of our bills paid up right now.  We have doctors who listen to us and support us.  And we have educators who love and care for our kids on a daily basis.  Speaking of educators here is a news snippet from another FX mom who is thankful for her teachers:

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Canton mother gives thanks for teachers in kids’ lives

By HOLLY ROOS/For the Daily Ledger
Published: Wednesday, November 26, 2008 10:13 AM CST
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It’s that time of year when we stop and remember of everything we have to be thankful for.

When you have a child born with a disability, this is something that you do every day. You recognize and are thankful for all of the tiny miracles in life that happen on a daily basis.

I try to take time, every day, to be thankful for all of the people in our life who have had such a positive impact on who we are today. And while I am very thankful for all of our family and friends — new and old — who have provided us with such amazing support through this journey that Fragile X has taken us on, this Thanksgiving, I want to focus my thankfulness on our teachers.

In the world of special education, your child’s school day has many teachers: special education teachers, behavior teachers, speech therapists, occupational therapists, physical therapists, resource teachers, paraprofessionals, and regular education teachers. It’s all of these people, in addition to the equally important P.E. teachers, art teachers, librarians and music teachers that make up each school day for children with special needs.

Our son, Parker, is now in 4th grade at Eastview Elementary School. He started school at the age of 3 when he transitioned from the Birth to Three Program to the Early Intervention Program at Westview. The transition to kindergarten at Eastview was our first big school transition and where we met the amazing Miss Lindsey.

Miss Lindsey believed in Parker. She saw the potential in him. She understood the importance of inclusion and the lessons that could be learned in her classroom. She knew that Parker would learn from his peers. She also knew that the Parker’s peers would learn life lessons from him that can’t be taught from a book. For Parker, like many children with Fragile X, school can be very difficult.

In addition to educational and social challenges, he faces the challenges that come with having Fragile X. Miss Lindsey was determined not only to be sure that all of her students, including Parker, learned and grew but accepted difference. She taught them to accept the people in our lives and community who might be different than you.

She never underestimated the knowledge or mind of the 5-year-old. She believed in every one of her students, even the ones who were no longer in her class. You could see her impact on the students’ everyday life after school, as the older children leaving the building would stop to tell her hello or of the good things they had accomplished.

Kindergarten is such an important year in school because it’s your start to your school career. Kindergarten teachers have an extra special task of teaching their students the joy of learning and starting their educational careers off on the right foot. In our family, we are reminded of this each day as we see the joy and excitement in our daughter, Allison, thanks to her kindergarten teacher, Miss Mosher.

Allison looks forward to school every day and is filled with excitement each night as she tells us about her day at school. Miss Mosher, like Miss Lindsey, builds a love for learning that will last a lifetime with grace and passion. For that, I am thankful. I am thankful for the great start both of my children have been given.

During the “middle years” of elementary school, Parker has been through a lot; growing up with Fragile X is not always easy. He has challenged many of his teachers in ways that I’m sure they never expected to be challenged.

There were times we thought the teachers would give up or not see the lessons they could learn from him in addition to the fact that they COULD teach him. Despite some rough times, and some very challenging days, all of these teachers were able to see that they could teach him and they could learn from him too.

Each year, he ended his school year a better person for the time spent with each of those teachers. You can see a little bit of all of them, their teaching styles, personalities and favorite sayings in him every day. For Miss Rusch, Mrs. Rivero, Miss Perkins, Mrs. Yocum, Mrs. Kielion, Mrs. Utzinger, Mrs. Brown, Mrs. Therien, Mrs. Nickles, Ms. McSchooler and Mrs. Breese, I am thankful for your determination and for not giving up on a little boy who was struggling. He is doing as great as he is today thanks to your efforts and your belief that he can succeed. I hope as you see him each day in the halls, you see your part in his success. For your time, efforts and belief in him, I am thankful.

Parker is now in the 4th grade and for his final year at Eastview he has a teacher who has been able to see his progress over the past few years. She’s seen his challenges and his growth and now it’s her turn to make a difference in who he is. And is she ever! At the beginning of this school year his teacher, Ms. Swardenski, made a promise to us that this would be the year that Parker made great educational gains. And even this early in the school year, we can see the leaps and bounds by which he as learned.

He spends more time in the regular education classroom than pulled out for individual help. His connection with his peers and their understanding of him has strengthened. His educational progress can only be summed up with the word “wow!” Ms. Swardenski works with all of the members of Parker’s educational team and works together with them to help him learn. She is amazing and the proof is in her students.

Watching Ms. Swardenski work with all of the children in her classroom reminds you of why you hope people become teachers. Every child in her class is important. You can see her focus on each child as an individual and her belief in each of them and what they can do, even the special ones. You can see her excitement for them as they learn and her passion for teaching. For Parker and all of his classmates, they are given a renewed belief that there is a joy in learning. What a great gift to a class about to make a major transition to the junior high school!

Ms. Swardenski is a teacher who understands how individuals grow, develop, and learn and provides learning opportunities that support the intellectual, social, and personal development of all students. She puts her students first and does this with all of her students and for that, I am thankful.

I have many friends who are teachers, at least one at all of our Canton schools. I know I’m not alone in being thankful for our teachers; I talk with parents every day who are thankful for the teachers in our district. Without them, where would our children and our future be?

I hope this Thanksgiving, you take the time to not only be thankful for your family and friends but for the teachers who work so hard each day with our children. I really hope you have a Miss Lindsey, Ms. Swardenski or one of the in between in your life to be thankful for too. Happy Thanksgiving.

The misdiagnosis of fragile X

Hartford Special Needs Examiner: The misdiagnosis of fragile X

Posted using ShareThis

Fragile X is a genetic condition involving changes in the X chromosome.  It is the most common form of inherited intellectual disabilities in males and a significant number of females.  It is thought that 80 – 90% of those affected with fragile X are undiagnosed or misdiagnosed.

Fragile X is caused by a change in the FMR1 gene, when the gene’s code is repeated on the fragile part of the X chromosome.  The more times the code is repeated the more likely there is to be a problem. The condition is caused by a trinucleotide repeat. People without fragile X typically have 5 to 45 repeats. Carriers have 55 to 200. The full mutation happens after 200 repeats, when the gene becomes methylated and stops sending its message. Normally, the FMR1 gene makes a protein needed for brain growth.  Having a defect in the gene makes it produce too little or not enough of the  protein.   Males and females can both be affected, although boys only have one X chromosome, a single fragile X is more likely to have a higher rate of severity. 

Approximately 25-35% of cases are misdiagnosed as autism because they share many of the same behavioral issues.  Poor eye contact, social awkwardness, repetitive motions and speech, and hand-flapping or biting.  Children who have fragile X will need to be treated for autism in addition to the treatments they receive for fragile X.  Children who also have autism have lower cognitive abilities than those with fragile X alone.  Why some have more severe deficits causing autism is not known.  However, most children with fragile X are not autistic.  They show interest in others, enjoy social situations, although poor eye contact and hand-flapping or biting are seen in 50-90% of children with fragile X even without being autistic. 

In older persons, fragile X has also been misdiagnosed as Parkinson’s Disease.  Men who are carriers of fragile X syndrome but not affected can develop a pseudo-Parkinson’s disease when they reach their 50s, according to a published report from the University of California.  Previously, it was thought that these men were spared any consequences of fragile X syndrome because they had a mutation that wasn’t severe enough. The fragile X gene (FMR-1) is located on the long arm of the X chromosome, and it is a relatively short gene. In a carrier, it is slightly elongated, with some repeats. In someone more severely affected, it is even more elongated.  According to estimates of the fragile X chromosome prevalence, 1 in 800 men is a carrier but not affected.

Autism and fragile X also have in common attention deficit/hyperactivity disorder (ADHD).  70-90% of males and 30-50% of females will be affected by ADHD as well as sensory problems.  Such as sensitivity to light, touch and sounds.  Females have less mood instability, aggression and hyperactivity.  More often shyness, and social anxiety causes withdrawal or even the reluctance to speak. 

Previous screening studies have shown that 2.5% to 6% of boys with autism have fragile X. (Brown, Jenkins et al. 1986; Bailey, Phillips et al. 1996; Hagerman 2002) Therefore it is thought that, all children with autism and or intellectual disabilities should have fragile X DNA testing. Such screening may also identify individuals with the fragile X premutation in association with autism and there are current evaluations of the additive effect of the premutation which can be associated with mild gene dysfunction (Tassone, Hagerman et al. 2000).

In summary, the association of fragile X and autism is a strong one which requires assessment in each child.  At current date there is no cure just treatments.  Speech, occupational, behavioral, and language therapies can address some of the physical, behavioral, and cognitive aspects of fragile X.

Do you know someone who have been misdiagnosed or think someone is undiagnosed??  I’d love to hear your story

Stop Spinning World…I need to get off

Matty had a possible petit mal seizure at school yesterday. Seizures are a part of the fragile x but it is a part that I thought we had escaped . It happened at school…and get this…I found out by EMAIL!!!

This is the email:
Matt had a funny reaction after he came back from PE. He shook a little and had a blank look on his face. He also had an accident on himself, and he washed his clothes.

So I called the teacher to see what this “funny reaction” was. She said it happened right after PE. He did a little shiver and then blanked out for about a minute. She called his name a couple of times but he wasn’t there. Finally it was like it dawned on him that someone was talking to him and he popped back. Then he peed himself…which is common.

She said she was 99.9% sure it was a seizure because she has them and they highly resemble that. I called our pediatrician and Matty has an appt on Friday afternoon.

He is doing okay. I brought him home, gave him a bath, and he was pretty talkative all evening. Actually he’s been a wise arse. Brit said she spelled a word wrong and Matt tells her “Good Job!”.

And another one bites the dust…

Lauren ended up sick yesterday.  She is 100% blaming it on Matthew and I don’t blame her. 

Matthew is doing a bit better though.  He didn’t have a fever yesterday though he still had the runny nose.  This morning he started out with the nose too.  I’m just so glad that he finally mastered blowing it this fall.  This would be a nightmare if he hadn’t. 

I’m feeling much better as well.  I made it to work today!!  And so far I still have a job.  Woot!

I never had a chance to get that video on Youtube yet.  Okay…I had the chance BUT I’m cross-stitching Christmas decorations for a family craft exchange and it was funner to do.  Plus I could divide my attention between that and the NFL and the sick kiddos.  I get too easily sidetracked on the computer.  It’s a wonder I get anything done at my job because of that.  Speaking of which I better get back to my job.