Thanksgiving 2011

We spent Thanksgiving at my parents house.  It was Josiah's first Thanksgiving :)  All three kids were great.  We had a fantastic day.

I was a little sad this year, thinking of my brother Scott.  Scott died in September of an apparent drug overdose (accidental).  Despite how crazy he made all of us, he was missed this year.

Two years ago, he spent Thanksgiving at our house & helped Carl cook the turkey on the Weber Grille outside.  A picture was taken of the two of them, standing by the grille (and the turkey looked soooo good lol).  I love that picture.  Scott was sober that day (a rarity, as he had come from a treatment facility).  He looked good.  I will forever remember him as he looked that day.  I'm so glad we named Josiah, in part, after him.  He needed a positive legacy, and Josiah is it :)

The first holidays, after losing someone, are always hard.  I'm particularly sorry that he will never meet this amazing little boy of ours.  He would have loved Josiah very much.

Here's to good memories of Scott.

Here's to a lifetime of amazement with Josiah and his two brothers :)

A great EI Assessment

Early Intervention came out today to do their "Assessment" of Josiah.  The 'assessment' is really a formality, as the Down Syndrome automatically qualifies him for services.

The five-member team arrived.  Josiah was such a good boy and remained engaged (as much as an almost-six-week-old can be) with the process.  They remarked how relaxed he was.  They remarked how social he was (making eye contact, etc).  The performed various tests with him, testing social skills, gross motor skills, vision, hearing, etc).  The assessment lasted approximately one hour.

Then came the scoring.  Based on scores alone, Josiah doesn't qualify for services.  They say he shows no delays as this time (which, according to them, many DS kids already show signs of delay at 5 weeks).  Despite the great scores, Josiah will have EI services until his third birthday.  It's nice to know he has a team of people ready to help him reach his full potential.  We expect nothing less than that for all our children <3 

From the day we received the diagnosis, Carl & I believed in our hearts that Josiah would be very much like our two older boys.  Today confirms it.  Josiah is a six week old baby.  He loves to be held.  He loves to be cuddled.  He is a social little butterfly that loves people.  He is a smart boy.  We've known that from the beginning.  He is so much like our other boys.  We are truly blessed.

Another great day :)

Interesting Article: "Encouraging era for treating Down syndrome"

Encouraging era for treating Down syndrome

Ashley Sanchez, Regular Contributor

Clinical trials for Down syndrome? A Down syndrome research lab right here in Austin? Attend college my oldest daughter?

My head is spinning. After 19 years of intimate familiarity with Down syndrome (our first child, Cristina, was born with it in 1992), I thought I was up to speed on the genetic condition that causes cognitive impairment. I'm delighted to learn that I was wrong.

Dr. Jon Pierce-Shimomura is an assistant professor of neurobiology at the University of Texas who is conducting research on Down syndrome as well as utilizing the skills of adults with Down syndrome to conduct research. Pierce-Shimomura's passion is contagious, and it's personal. His 10-year-old son Ocean has Down syndrome.

When I visited Pierce-Shimomura's lab recently, he enthusiastically showed me C. elegans and explained why he believes that the tiny worms hold such promise in finding treatments for Down syndrome, Alzheimer's and Parkinson's diseases.

The worms, approximately 1 millimeter in length, have roughly the same 25,000 genes that we humans have. Because they are translucent, it is easy to peer inside of them with a microscope, and they have a brief life cycle — up to about two weeks, "if you pamper them," he said. Thus, C. elegans are middle-aged when they are 5 days old, making it efficient for researchers to study numerous treatment approaches for Alzheimer's and Parkinson's in a short period of time.

Pierce-Shimomura, along with Dr. Adela Ben-Yakar in the school of engineering, received a $3 million grant from the National Institutes of Health to study Alzheimer's on worm models of Down syndrome. Pierce-Shimomura explained that it's hard to predict what people in the general population will develop Alzheimer's, but we know that almost everyone with Down syndrome will. Thus, "It's people with Down syndrome who are most likely to lead to the first drugs to treat Alzheimer's disease."

Pierce-Shimomura is one of several researchers who in recent years has begun to study treatments for Down syndrome. In fact, pharmaceutical giant Roche has just initiated a Phase 1 clinical trial of a drug to improve cognition in people with Down syndrome.

The Down Syndrome Research and Treatment Foundation was founded seven years ago to help spur on such research. NIH funding for Down syndrome research has lagged that of other conditions. For example, according the foundation, although 400,000 Americans have Down syndrome, the NIH devoted only $55 per capita on research, compared with $2,867 per capita on research for Cystic Fibrosis, which affects 30,000 Americans.

Those of us who love someone with Down syndrome share part of the blame for the inadequate funding. While other advocacy groups aggressively sought research funding, we've focused our efforts elsewhere: advocating for better education, jobs and integration within our communities for our sons and daughters. We've been relatively successful. Even without treatment, our children have succeeded in school, found a wider variety of job opportunities and achieved varying levels of independence. Now a few innovative colleges are finding creative ways to serve our students.

"I am personally trying to open the doors for people with intellectual disabilities at the college level," Pierce-Shimomura. "They've done so well at K-12, there's no reason why they can't shine at college."

Twice a year, he offers a six-week science course for approximately 10 students with Down syndrome and five UT students. During the most recent session, the students were conducting research with C. elegans to study Parkinson's disease. Pierce-Shimomura has applied for a grant to be able to hire a couple of the students to help with research in his lab part time.

We're entering an incredible era, one in which students with Down syndrome might be able to hold jobs in a research lab, attend class on college campuses and get treatment to improve cognition. For those opportunities to come to fruition, however, we need vastly improved funding for research, and we need a widespread effort by colleges and universities to explore innovative ways to welcome these students.
It's exciting to know that right here in Austin, Jon Pierce-Shimomura is helping usher in this era.

Sanchez lives in Cedar Park.

The hearing hurdle

So....Josiah failed his newborn hearing screening (in both ears).  They scheduled a follow-up test for today.

We left early this a.m. for Josiah's "Auditory Brainstem Response Exam."  Luckily, we were able to go to a local audiology clinic & save the trip to Boston.  The directions for the test were funny:

Don't let your child get a good night sleep.
Wake your child early in the a.m.
Don't feed your child within two hours of the test.
Don't allow your child to fall asleep in the car on the way to the test.
"We want your child to arrive awake, hungry, and tired."

(all the things a parent of a newborn hopes to be told LOL).

Well, we followed the instructions & arrived right on time.  They prepared him for the test.  I was allowed to feed him & he promptly fell asleep.  We were told to come back in 90 minutes, which we did :)

When we arrived back, we noticed the audiologist pacing the hallway with Josiah.  I thought, "Oh boy, this didn't go well."  Much to my delight....Josiah had been a perfect angel.  He slept throughout the duration of the test (a requirement of the test).  They were able to complete the comprehensive hearing test.  I nursed him while they explained the results.

Bottom line:  Josiah passed with flying colors.

When tested at the quietest level (20db), it took a couple of milliseconds longer for the sound to reach it's destination.  At 25db, the brainstem response was "discernible" (reached it's destination at a normal rate).  The slower response to the 20db could be explained by the fact that Josiah's ear canals, etc are TINY (very common with DS kids).  He has no fluid in his ears (just a little congestion in one ear).  He has no infections.  His hearing is not a concern.  This is GREAT news :)

Although he will be more at-risk for ear infections (another common trait in DS), his hearing is fine.

It's a great day.

1-month old

I'm not sure where the first month has gone.  Josiah is doing so well.  He is up to 7lbs 5oz (yes, only 5oz up from birth weight)....not uncommon for DS kids to be slow weight gainers.  He eats well.  He sleeps well.  We are so blessed by this amazing little man.

Josiah loves to cuddle.  He loves kisses.  He loves to be held.  He's trying to lift his head....he's a strong little boy.  He's even trying to smile now.  Every day is a new adventure.  We couldn't be more proud to be his parents.

Veteran's Day 2011 - Thank you!

On this Veteran's Day, I give thanks that I am an American.  I thank God for this great Country of ours.

To all members of our armed forces, past, present, and future - thank you for serving and defending our Country.  Thank you for making it a safer place for my children.  Thank you for assuring our freedom, that we are allowed to raise our children as we see fit, that our son Josiah can live freely and not be caged like an animal.

Thank you for your willingness to sacrifice time with your family, and sometimes your life, that I may have these opportunities (and so many more).

From the bottom of my heart - Thank you :)

Please remember our Veteran's today <3

Getting services in place

We arrived home on Friday 10/14/11. 

We had done our homework and wanted to waste no time.  We had read the benefits of putting services into place quickly....we want to give our child every opportunity to reach his full potential.

Friday afternoon, I was on the phone with the insurance company (getting him set-up with medical insurance) & I called Early Intervention (whom I had spoken with prior to his birth).

Monday, was a repeat of the above phone calls...

By Wednesday (exactly one week after birth), we had insurance set-up & an intake scheduled with Early Intervention. 

By Friday (9 days old), we were on the phone with the Down Syndrome Clinic - setting up his first clinic appointment.

November is a busy month....Josiah will begin receiving Early Intervention services.  He'll have a specialized hearing test (as he failed his newborn hearing screening), we will schedule his "new baby visit" to the DS clinic, and he'll have weekly "weight checks" with the pedicatrician (as DS babies are slow weight gainers, as we have already learned).....

Meanwhile, he's just like every other baby.  He loves to be held.  He eats & sleeps well.  He's a happy little boy.

We are so blessed to have him in our lives <3