Monday, November 28, 2011

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 :)

Tuesday, November 22, 2011

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 :)

Friday, November 18, 2011

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.

Tuesday, November 15, 2011

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.

Friday, November 11, 2011

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

Tuesday, November 8, 2011

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

Sunday, November 6, 2011

Poem: "Welcome to Holland"

I came across this poem, early on.  How true this is.....

Welcome To Holland
Emily Perl Kingsley

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel.  It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy.  You buy a bunch of guide books and make your wonderful plans. The Coliseum.  The Michelangelo David.  The gondolas in Venice.  You may learn some handy phrases in Italian.  It's all very exciting.

After months of eager anticipation, the day finally arrives.  You pack your bags and off you go.  Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."

"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy!  I'm supposed to be in Italy.  All my life I've dreamed of going to Italy."

But there's been a change in the flight plan.  They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease.  It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language.  And you will meet a whole new group of people you would never have met.

It’s just a different place.  It's slower-paced than Italy, less flashy than Italy.  But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips.  Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there.  And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever  go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

*     *     *

©1987 by Emily Perl Kingsley. All rights reserved. 

Saturday, November 5, 2011

Josiah meets the family

Before we had left the hospital, Josiah had met his brothers (Jesse & James), his maternal grandparents (Mimi & Bah), and his aunts (Angel, Dee, and Chris).

Over the next few days, Josiah was introduced to his paternal grandmother (Nana), his uncle Tom & Auntie Anne.

A week later, he met his Uncle Jeff & cousin Cathy.

Josiah has been accepted by everyone!  Any previous reservations were gone :)

Josiah is part of our family & he is loved <3

My sister-in-law, Chris, who is "quite smitten with him" stated this:  "I think he (Josiah) is going to be the spice of our family."

We think Josiah is just what/who our family needs.


I remember reading statistics, early on, about Down Syndrome pregnancies.  Sobering.....

Genetics suggest that out of every 100 DS pregnancies, approximately 80% result in miscarriage.

That leaves 20.

Out of the remaining 20, 90% are terminated (by choice).

That leaves 2.

I realize, every single day, how lucky we are to have Josiah in our life <3

The birth of Josiah

October 12, 2011:  Josiah was born at 5:50pm.  He was 19.5 inches long; he weighed 7lbs 0.4oz.  He is a beautiful baby.  He may have an extra chromosome, but he is absolutely perfect!  Our new adventure has begun....

The final month & complete mayhem

As September rolled around, we knew we had about 6 weeks to go.  We had no idea what the following weeks would bring.

Sept 3, 2011:  My oldest brother, Scott, died unexpectedly.
Sept 8, 2011:  Wake/visting hours
Sept 9, 2011:  Burial.

Sept 18, 2011:  Baby shower for Josiah - the one great day in September.

Sept. 19, 2011:  Carl has medical crisis & ends up in local hospital.
Sept 22, 2011:  Carl returns home
Sept 23, 2011:  Carl has medical crisis & ends up in Boston hospital.
Sept 25, 2011:  Carl undergoes major surgery.
Oct 4, 2011:  Carl is discharged home :)

Some good news & Intro to Boston Children's

June 13, 2011:  Third ultrasound revealed good news.  The VSD had healed.  Josiah no longer had the hole in his heart. 

June 15, 2011:  We attended our first appt at the Advanced Fetal Care Center @ Boston Children's Hospital.  Good news confirmed: the VSD had healed.  Josiah's heart was fine.  We met with the Director of the Down Syndrome Clinic.  They have a great program.  Josiah will be in great hands.

August, 2011:  2nd appt at Children's.  All is well.  Now, we wait for Josiah to be born.

Breaking the news

May 22, 2011:  We had known for four days.  It was time to share our news.

Its funny the preconceived notions we have of how others will react to information.  For us, the shock came in the form of two family members.  With one, we expected a less-than-stellar reaction and received the complete opposite.  With the other, we expected understanding and support.  Instead, we were told that the baby would be a burden, and would make life very difficult for our older boys.  We were told that we couldn't just keep waking up every day, telling ourselves everything would be ok.

Our internal question: Why the hell not????

We decided not to let other people's ignorance alter our perspective and, we didn't.  We never will.

The diagnosis

By the time we received the 'diagnosis,' we were relieved.  The diagnostic genetic possibilities had been great, and many more horrifying than Down Syndrome (DS).  DS meant we would be able to bring our baby home.   It meant our Josiah, given the opportunity, would be able to achieve great things.  Keeping him, was never a question.  Now, it was simply preparing.  We researched.  We reached out.  We planned.  We were going to be sure that Josiah is given every opportunity to reach his full potential.

The beginning

February 12, 2011:  2 home pregnancy tests yielded positive results. 

February 14, 2011:  MD appt confirmed we were pregnant with our third child.  This pregnancy was quickly reminiscent of the first two (both boys) - no cravings, no morning sickness, etc. 

We had our routine 12-week ultrasound and were told that there were certain "markers" indicative of Down Syndrome.  Specifically - there was an unusual thickness in the baby's neck & a hole in his heart (VSD).  Shortly thereafter, we completed the two routine blood tests; the risks increased.  We were told "It is more likely than not, that your baby has Down Syndrome." 

May 16, 2011:  At the 18-week ultrasound, we learned we were having a boy (whom we would name Josiah).  We also learned that there were additional markers (shorter arm/leg bones, smaller nose, etc).  Carl & I decided to have an amnio to confirm the suspicion.  The amnio was completed immediately.

May 18, 2011:  Our OB called.  The preliminary results were clearly showed the triple 21 chromosome.  It was official.  Josiah has Down Syndrome (Trisomy 21).