Sunday, October 20, 2013

31 for 21 Challenge: Day Twenty. Welcome to Holland Poem

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.

31 for 21 Challenge: Day Nineteen. Repost. Boppy's, Burps, and Bucket Lists

Josiah had EI on Monday morning.  He loves his time with K.  His stamina seems to be increasing.  He really enjoyed tummy time, lifting his head & turning it side-to-side like a pro.  Sometimes, he uses the boppy pillow; sometimes he lays flat on his tummy.  He does well either way.  We experimented with a new 'gym-type' toy - it was a smashing success!  It has a mirror & folds down for use during tummy time.  Josiah enjoyed looking at that cute baby in the mirror :). 

James was up, and quietly watched K work with Josiah.  I think James wanted to to play but knew it wasn't his turn.  K will be back on Thursday for James.  This week's two playgroups will help pass the time.

Josiah continues to eat his rice cereal once daily.  He seems to enjoy it, most of the time.  I'm working on using different spoons so he'll get use to different textures.  I still imagine his high palette is going to act as an obstacle, at times.  I'm researching this a bit to see what kind of information I can find on feeding, high palette, etc.  It's a work in progress.

Jesse finally felt better & was back to school first thing Monday morning.  He shows no signs of the illness that kept him home last week.  Luckily, no-one else in the house was stricken with the illness.

Today, Jesse's friend came over & we all enjoyed playgroup.  It rained, and was cloudy, all day.  Somehow, that made me feel very tired all day.  The weather doesn't show any real signs of improving for the next several days.  I'm looking forward to sunshine :)

Every day, at various times, I find myself surfing the net.  I recently came across links to a baby who's parents had started a bucket list for her.  After a few clicks, I learned that the little girl's name is Avery & she is 5 months old.  Avery has SMA - Spinal Muscular Atrophy.  The MD's said she won't live beyond her 2nd birthday.  With SMA, eventually, all control over arms is lost.  Second, all control over legs are lost.  Third, all control over breathing is lost.  It's a rare disease and very little is known about it.

Rather than cry now, while she is alive, her parents decided they would cry later - after she is gone.  They decided to create a bucket list for Avery & fill her remaining days with LIFE :)  Avery's Dad started a great blog in which they show Avery fulfilling her life with great adventures <3.

I think back to when we learned that Josiah had a chromosomal abnormality - we didn't yet know which one - there were many it could be.  Trisomy 18 was one possibility.  I read a little bit about it.  I was scared to death.  The 'normal' lifespan for a child with Trisomy 18 is 4-14 days.  Many children with triple 18, never come home from the hospital.  I remember one day praying, "Please Dear God, don't let it be that!"  When we received the final diagnosis of Trisomy 21, I was so very relieved.  I remain relieved.  I am thankful for a beautiful baby that will grow into adulthood.  I am thankful for God's grace. 

Tonight, I pray for Avery's parents.  They can finally stop to cry.

RIP Avery Lynn Canahauti 11/11/11 - 4/30/12 <3

31 for 21 Challenge: Day Eighteen. Repost. New Parent's Checklist

This is a great checklist I found for new parents of a child with Down Syndrome.  It was written for parents living in the Pennsylvania area but has been edited, here, for people living in the Massachusetts area.

Newborn checklist

1. Contact the Down Syndrome Clinic at Boston Children's Hospital (857-218-4329) or Massachusetts General Hospital (617-643-8912).

2. Contact NDSS (National Down Syndrome Society) at 1-800-221-4602.

3. Contact MDSC (Massachusetts Down Syndrome Congress) at 1-800-664-MDSC.

4. Contact Early Intervention at 1-800-905-TIES or  EI is a statewide, integrated, developmental service available to all families of children between birth and three years of age.  EI provides family-centered services that facilitate the developmental progress of children.
5. Apply for Social Security Income (1-800-772-1213) & Mass Health/Medicare (1-888-665-9993 or
          SSI is a federal program of the Social Security Administration that provides monthly cash benefits and automatic MassHealth coverage for a child with special medical needs.  Families with low to moderate income and limited resources may be eligible for SSI.  Families whose income or resources exceed the limits of MassHealth Standard may be eligible for Commonhealth.  Commonhealth is a state program that may charge a premium for MassHealth through a sliding fee based on income and family size.

6. Take a copy of the following to your pediatrician:
          1. The Down Syndrome Health care Guidelines (available at
          2. Contact info for the DS Clinic at BCH or MG
          3. Growth charts for children with Down Syndrome (available at

3-month checklist

1. Schedule an echocardiogram with a pediatric cardiologist.
          Babies with Down syndrome are sometimes born with heart defects. It is important to identify any cardiac issues as soon as possible so treatment options can be discussed.
          All babies with Down syndrome should have an echocardiogram by 3 months of age.
2. Schedule an appointment with a pediatric audiologist.
          The ability to hear affects the ability to speak, so it is important to have your baby’s hearing checked.
          Your child should receive a newborn hearing screen with an audiologist by 3 months of age (this is in addition to the newborn hearing screen that is routinely done before leaving the hospital). All babies should see an audiologist every 6 months until age 3 and then yearly.
3. Schedule an appointment with a pediatric ophthalmologist.
          All babies with Down syndrome should receive an ophthalmological evaluation by 6 months of age and then yearly.
4. Schedule a thyroid function test.
          Children with Down syndrome are at a higher risk of having abnormal thyroid levels, so it is important that your child’s thyroid levels be checked regularly.
          All babies with Down syndrome should have their thyroid levels tested at birth, at 6 months of age, at 1 year of age, and then yearly.

31 for 21 Challenge: Day Seventeen. Repost. Sign Language

I learned early on that sign language can be helpful for a baby/child with Down Syndrome.  Here's what I have discovered.

1. Many children with Down Syndrome (DS) have some degree of speech delay.  This makes it difficult for parent and child to communicate - leading to frustration for all.
2. Many babies can pick up signs long before they can speak their first words.  They develop gross motor skills needed for signing before they develop the fine motor skills associated with verbal speech.

3. Sign language is not just for the deaf; It can be helpful with:
  • apraxia
  • autism
  • cerebral palsy
  • communication impairments
  • down syndrome
  • deafness/hearing impairment
  • LLD - language learning disability
  • various learning delays
  • medical non-verbal needs, i.e. tracheotomy
  • varying degrees of mental impairment
4. The development of speech, language, social, emotional, and academic skills is enhanced through the use of sign language.

5. Sign language accelerates the acquisition of speech by stimulating areas of the brain that are associated with speech and language.

6. Signing provides language stimulation and conceptual information that enhances vocabulary development in children.

7. By expanding vocabulary and social opportunities, sign language naturally enhances self esteem.

How to teach sign language to your baby:

1. Start simple (eat, mama, etc)

2. Introduce one sign at a time & use it often.

3. Say the word as you sign it so baby will associate the word with the sign.

4. Make it fun!

A few sites to help get you started:

31 for 21 Challenge: Day Sixteen. Repost. DS & Autism

Recent years have shown an increase in the number of children who are dually diagnosed: Down Syndrome (DS) AND autism.  In short, these are children who have BOTH.

It is not easy to diagnose autism; There is no blood test, genetic marker, or facial feature to aid in diagnosis.  It is a subjective opinion.  The diagnosis is still harder in children who already have a 'learning disability' such as DS.  There is also not clear agreement on the number of children who are affected by both.

Surveys in the UK and Sweden suggest approximately 5-7% of children with DS have autistic spectrum disorder, or autism.  A recent study in the US suggests 2 in 20 (10%).

Some studies have suggested a family history of autism was present in the families of some of the children dually diagnosed.  Like other children, they are affected by a genetic predisposition in their families.

Some studies suggest that many dually diagnosed children have serious health problems that do not affect all children with DS.  There may be an increased risk for autism for those children with DS who have experienced: infantile spasms, epilepsy, brain injury after complicated heart surgery, severe hearing or visual impairments, and persistent infections.

The diagnosis and treatment of autism is more critical those for DS.  Without early detection and intervention, the lives of children with autism may be much more limited than those with DS. The key area affected developmentally in the DS child is cognitive.  For the autistic child, it is social and emotional. 

Most babies show the least delay in social and emotional development, smiling when talked to at 2 months, smiling spontaneously at 3 months, etc.  Each milestone showing a 1-month delay (on average).  So, the key area to watch for in a child with DS suspected of having a complicated behavior disorder such as autism is in the social/emotional development.

Some key behaviors that may point to the possibility of autism in a child with Down syndrome are:
  1. Extreme Autistic Aloneness - The child does not relate to people normally and seems to prefer to be left alone. The child seems to consider other persons as objects, not people. He will not join in group play with other children. Unlike children with Down syndrome, who are very lovable and huggable, the autistic child does not want to be held.
  2. Anxiously obsessive desire for the preservation of sameness - Any differences in daily routines can cause a large upset.
  3. Lack of eye contact - Autistic persons typically do not make eye contact but will look away or "right through" other people.
  4. Shows repetitive, "Stereotypical" movement, like sitting for long periods of time with an object in his hand and just waving it back and forth looking at it.
Individuals with autism usually exhibit at least half of the traits listed below. These symptoms can range from mild to severe and vary in intensity from symptom to symptom. In addition, the behavior usually occurs across many different situations and is consistently inappropriate for their age.
  • Difficulty in mixing with other children
  • Insistence on sameness; resists changes in routine
  • Inappropriate laughing and giggling
  • No real fear of dangers
  • Little or no eye contact
  • Sustained odd play
  • Apparent insensitivity to pain
  • Echolalia (repeating words or phrases in place of normal language)
  • Prefers to be alone; aloof manner
  • May not want cuddling or act cuddly
  • Spins objects
  • Not responsive to verbal cues; acts as deaf
  • Inappropriate attachment to objects
  • Difficulty in expressing needs; uses gestures or pointing instead of words
  • Noticeable physical overactivity or extreme underactivity
  • Tantrums - displays extreme distress for no apparent reason
  • Unresponsive to normal teaching methods
  • Uneven gross/fine motor skills. (May not want to kick ball but can stack blocks.
Adapted from the original by Professor Rendle-Short, Brisbane Children's Hospital, University of Queensland, Australia.
Diagnosis of Autism in Down Syndrome - DSM-IV Checklist
  1. A total of six (or more) items from (1), (2), and (3), with at least two from (1) and one each from (2) and (3).
    1. Qualitative impairment in social interaction, as manifested by at least two of the following:
      1. Marked impairment in the use of multiple nonverbal behaviors such as eye-to-eye gaze, facial expression, body postures, and gestures to regulate social interaction.
        • Not normally seen in Down syndrome, more indicative of autism.
      2. Failure to develop peer relationships appropriate to developmental level.
        • Not normally seen in Down syndrome, more indicative of autism.
      3. A lack of spontaneous seeking to share enjoyment, interests, or achievements with other people (e.g., by lack of showing, bringing, or pointing out objects of interest).
        • Somewhat true in Down syndrome but much more pronounced in autism.
      4. Lack of social or emotional reciprocity.
        • Somewhat true in Down syndrome but much more pronounced in autism.
    2. Qualitative impairments in communication as manifested by at least one of the following:
      1. Delay in, or total lack of, the development of spoken language (not accompanied by an attempt to compensate through alternative modes of communication such as gesture or mime).
        • Not normally seen in Down syndrome.
      2. In individuals with adequate speech, marked impairment in the ability to initiate or sustain a conversation with others.
        • Normally seen in Down syndrome, although not to the extent seen in autism.
      3. Stereotyped and repetitive use of language or idiosyncratic language.
        • Seen somewhat in Down syndrome but not to the extent seen in autism.
      4. Lack of varied, spontaneous make-believe play or social initiative play appropriate to developmental level.
        • Not normally seen in Down syndrome.
    3. Restricted, repetitive, and stereotyped patterns of behavior, interests, and activities, as manifested by at least one of the following:
      1. Encompassing preoccupation with one or more stereotyped and restricted patterns of interest that is abnormal in either in intensity or focus.
        • Not normally seen in Down syndrome.
      2. Apparently inflexible adherence to specific, nonfunctional routines or rituals.
        • Not normally seen in Down syndrome.
      3. Stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting or complex whole body movements).
        • Not normally seen in Down syndrome.
      4. Persistent preoccupation with parts of objects.
        • Not normally seen in Down syndrome.
  2. Delays or abnormal functioning in at least one of the following areas, with onset prior to age 3 years: (1) Social interaction, (2) Language as used in social communication, or (3) Symbolic or imaginative play.
    • Children with Down syndrome will normally display some deficits in these traits depending on the severity of mental retardation. Since this is not entirely unexpected, it is usually ignored in the records and not so noted. Therefore when autism is diagnosed at a later age and the records or memory is searched for this evidence it is either not found in the official records of the child or it is forgotten about because it was not deemed all that unusual at the time. The diagnostician may then discard the possible diagnosis of autism because the appearance is given (falsely) that these traits were not present prior to 36 months of age. Because of this quirk in the diagnosis, there probably are many persons with Down syndrome with autism but it is not so diagnosed.
  1. The disturbance is not better counted for by Rett's Disorder or Childhood Disintegrative Disorder.

A Helpful site:

Tuesday, October 15, 2013

31 for 21 Challenge: Day Fifteen. Unending Losses

I woke up this morning to read about another loss in the DS community.  A beautiful little girl, with a beautiful extra chromosome, was born in Idaho in May.  She, like so many, was born with a heart defect.  For four months, she lived a happy, healthy life.  In September, she began going into heart failure.  They performed surgery but she was unable to recover.  She passed away on Saturday, on Josiah's second birthday.

I wonder why some live, and some die.

My heart aches for the families who have said eternal goodbyes.

Today, like always, I am forever thankful for the lives of my children.  I am thankful for great doctors, good friends, and the best family a person could ask for.  I am thankful for this life I have been blessed to call my own.

RIP sweet angels.  Know that you are never forgotten.



31 for 21 Challenge: Day Fourteen. Repost. Poem by Unknown Author

When you were but a tiny speck 
deep within my womb
something happened to your cells
as life began to bloom
a chromosomal anomaly
is what the doctors say
but you are EXACTLY what I asked for
each night as I would pray

"Dear Lord, send me a happy child
who will not grow up too fast,"
for I love the joys of childhood 
and I wanted that to last.
'Send me a child who sleeps all night
and doesn't often cry,
a little boy with endless love
and a willingness to try."

That little extra chromosome
that number 21
gave me all I ever wanted
YOU - my precious son

- author unknown

31 for 21 Challenge: Day Thirteen. Repost. Brushfield Spots

Brushfield Spots - Have you heard of them?  I hadn't either.  Brushfield spots were first described in 1924, by Thomas Brushfield.  They refer to the little white or yellow spots on the anterior surface of the iris.  They can be arranged in a circle concentric with the pupil, mid periphery, or along the collarette.  They are caused by an aggregation of connective tissue.  Brushfield spots occur in 85% of blue or hazel eyed individuals with Down Syndrome (DS).  Only 17% of brown eyed individuals with DS have Brushfield spots as they are obscured by the anterior concentration of pigment cells.

Here are two pictures illustrating Brushfield spots:

It is important to differentiate these from "Kunkmann Wolffian Bodies" which are present in most children and in 15% of normal, light colored iris.  Kunkmann Wolffian bodies are less distinct, less numerous, and more peripheral than Brushfield spots.

Brushfield spots are a common characteristic of Trisomy 21.  Other ophthalmologic manifestations of Down Syndrome include:
  • Refractive errors (near/far sightedness) and squinting - 50% of individuals with DS wear glasses.
  • Reduced accomodation (do not focus accurately on targets)
  • Cataracs and glaucoma - can occur in infancy
  • Astigmatism
  • Presbyopia (literally 'old eye') - may occur at a younger age in a person with DS
  • Nystagmus - occurs in approximately 15% of people with DS
  • Keratoconus - very rare but studies suggest that people with DS are at an increased risk.
Josiah has the Brushfield Spots described above.  I think it gives his eyes a unique and special sparkle.  I wouldn't trade his eyes for the world.  They are beautiful.

"The eyes indicate the antiquity of the soul"
- Ralph Waldo Emerson

31 for 21 Challenge: Day Twelve. Josiah is TWO!!!

Josiah turned two on Saturday.  I can't believe my eyes!  He has become such an incredible little boy.  I read my blog from his first birthday.  I wrote the following:

"It's official!  Josiah is ONE!!!!!

It's hard to believe what a difference a year can make.

Last year, at this time, I think I was running on pure adrenaline (and strength from above).  My oldest brother had just died (in September) and we had put him to rest.  Carl had had a medical emergency and was hospitalized for about two weeks.  One week later, Josiah was born.

The following several months were typical of a family embracing a new baby.  We were no different, just running on exhaustion having survived the chaos of the previous weeks.

In December, the older boys got colds.  Josiah got one - it proved to be the best thing that could have happened.  The 'cold' developed into bronchiolitis (and possible RSV).  He was hospitalized at Children's for one night.  We (he and I) were released New Years Eve day.  Two weeks later, during a follow up echo cardiogram, we would learn that Josiah had numerous holes in his heart resulting in pulmonary hypertension...not good news!  Two weeks later, we were at Children's where Josiah would undergo open heart surgery.

Josiah was released from Children's 4 days after surgery.  Six weeks later, he was fully recovered.  The weight continued to be a battle for several more months.  Now, he is a thriving little boy.

To say we treasure every moment, is a gross understatement.  To say we are thankful doesn't even come close to the gratitude we feel.  We have an amazing family.  We have an amazing life.  We have been blessed a hundred fold.  We know this much is true!"

And so it continues.  We have three beautiful boys.  They are happy and healthy.  Our lives would not be the same without them.

We are truly blessed!!!

"For today and its blessings, I owe the world an attitude of gratitude"
- author unknown

31 for 21 Challenge: Day Eleven. Therapies

We were fortunate to find out about the Down syndrome, while I was still pregnant.  It gave us time to plan, to prepare.  We called the local Down syndrome support agencies.  I reached out to a friend who works for early intervention.  I even called the early intervention agency.

Josiah started receiving EI services at the age of 6 weeks.  It started as two visits per week.  By 18 months, it was four weekly (in home) visits per week.  We also brought Josiah to playgroup.

As he grows older, therapy has become a normal part of each day and week.  We continue EI, but only have two in-home visits per week.  As we've switched some of his therapies to an outside agency, we now enjoy six outside therapies per week.

As I counted this out last week, I chuckled.  Josiah has eight therapy appointments per week (2 in-home, 6 out-of-home) plus he continues to enjoy his weekly playgroup.

Some say to me, "I don't know how you do it."

He's my son.  I wouldn't have it any other way.

Thursday, October 10, 2013

31 for 21 Challenge: Day Ten. Tips for Teachers reposted

Tips for Teachers

  • Learn as much as possible about Down sydrome. The organizations mentioned in this fact sheet can help you identify techniques and specific strategies to support the student’s learning. We’ve included some additional suggestions below.
  • This may seem obvious, but sometimes the appearance of Down syndrome can give the mistaken impression that the child cannot learn. Focus on the individual child and learn firsthand what needs and capabilities he or she has.
  • Realize that you can make a big difference in this student’s life! Use the student’s abilities and interests to involve and motivate. Give lots of opportunities for the student to be successful.
  • Talk candidly with your student’s parents. They’re experts and can tell you a great deal about their daughter’s or son’s special needs and abilities.
  • Work with the student’s parents and other school personnel to develop and implement a special educational plan (IEP) that addresses the individual needs of the student. Share information on a regular basis with parents about how things are going for the student at home and in school.
  • If you’re not part of the student’s IEP team, ask for a copy of this important document. The student’s educational goals will be listed there, as will the services and accommodations that he or she is supposed to receive, including in your class.
  • Talk to specialists in your school (for example, special educators), as necessary. They can help you identify methods that are effective for teaching a student with disabilities, ways to adapt the curriculum, and how to address the student’s IEP goals in the classroom.
  • Be as concrete as possible with the student. Demonstrate what you want to see happen instead of giving only verbal instructions. When you share concrete information verbally, also show a photograph. Give the student practical materials and experiences and the opportunity to touch and examine objects.
  • Divide new tasks and large tasks into smaller steps. Demonstrate the steps. Have the student do the steps, one by one. Offer help when necessary.
  • Give the student immediate, concrete feedback.

31 for 21 Challenge: Day Nine. Tips for Parents reposted

Tips for Parents

  • Learn about Down syndrome. The more you know, the more you can help yourself and your child.
  • Love and play with your child. Treat your son or daughter as you would a child without disabilities. Take your child places, read together, have fun.
  • Encourage your child to be independent. For example, help your son or daughter learn self-care skills such as getting dressed, grooming, and doing laundry.
  • Give your child chores. Keep in mind his or her age, mental capacity, attention span, and abilities. Divide tasks into small steps. Explain what your child is supposed to do, step by step, until the chore is done. Demonstrate. Offer help when it’s needed and praise when things go well.
  • Work with the professionals who are working with your child. Participate in team meetings where your child’s education or program is being planned, share your unique knowledge of who your son or daughter is, advocate that the program address your child’s needs.
  • Find out what your child is learning at school. Look for ways to apply it at home. For example, if the teacher is reviewing concepts of money, take your child to the supermarket with you to help keep track of what money you’re spending.
  • Look for social opportunities in the community (such as Scouts) or activities offered through the department of sports and leisure. Joining in and taking part will help your child develop social skills and have fun.
  • Talk with other parents whose children have Down syndrome. They can be a fountain of practical advice and emotional support. Visit the websites of the organizations listed below to see if they have a parent group nearby.
  • Be patient, be hopeful. Your child, like every child, has a whole lifetime to learn and grow.
  • Take pleasure in your beautiful one. He—she—is a treasure. Learn from your child, too. Those with Down syndrome  have a special light within—let it shine.

Tuesday, October 8, 2013

31 for 21 Challenge: Day Eight. The Creed for Babies with Down Syndrome

The Creed of Babies with Down Syndrome

My face may be different
But my feelings the same
I laugh and I cry
And I take pride in my gains
I was sent here among you
To teach you to love
As God in the heavens
Looks down from above
To Him I'm no different
His love knows no bounds
It's those here among you
In cities and towns
That judge me by standards
That man has imparted
But this family I've chosen
Will help me get started
For I'm one of the children
So special and few
That came here to learn
The same lessons as you
That love is acceptance
It must come from the heart
We all have the same purpose
Though not the same start
The Lord gave me life
To live and embrace
And I'll do it as you do
But at my own pace
- unknown author

31 for 21 Challenge: Day Seven. Repost Myths from 10/23/12

Myth: Down syndrome is a rare genetic disorder.
Down syndrome is the most commonly occurring genetic condition. One in every 691 babies in the United States is born with Down syndrome, approximately 6,000 births per year. Today, there are more than 400,000 people living with Down syndrome living in the United States.

Myth: People with Down syndrome have severe cognitive delays.
Most people with Down syndrome have cognitive delays that are mild to moderate. Children with Down syndrome fully participate in public and private educational programs. Educators and researchers are still discovering the full educational potential of people with Down syndrome.

Myth: Most people with Down syndrome are institutionalized.
Today people with Down syndrome live at home with their families and are active participants in the educational, vocational, social, and recreational activities of the community. They are integrated into the regular education system and take part in sports, camping, music, art programs and all the other activities of their communities. People with Down syndrome are valued members of their families and their communities, contributing to society in a variety of ways.

Myth: Parents will not find community support in bringing up their child with Down syndrome.
In almost every community of the United States there are parent support groups and other community organizations directly involved in providing services to families of individuals with Down syndrome. Visit to find a Down syndrome group in your area.

Myth: Children with Down syndrome must be placed in segregated special education programs.
Children with Down syndrome have been included in regular academic classrooms in schools across the country. In some instances they are integrated into specific courses, while in other situations students are fully included in the regular classroom for all subjects. The current trend in education is for full inclusion in the social and educational life of the community. Increasingly, individuals with Down syndrome graduate from high school with regular diplomas, participate in post-secondary academic and college experiences and, in some cases, receive college degrees.

Myth: Adults with Down syndrome are unemployable.
Businesses are seeking adults with Down syndrome for a variety of positions. They are being employed in small- and medium-sized offices: by banks, corporations, nursing homes, hotels and restaurants. They work in the music and entertainment industry, in clerical positions, childcare, the sports field and in the computer industry to name a few.

Myth: Adults with Down syndrome are unable to form close interpersonal relationships leading to marriage.
People with Down syndrome have meaningful friendships, date, socialize, form ongoing relationships and marry.

Myth: People with Down syndrome are always happy.
People with Down syndrome have feelings just like everyone else in the population. They experience the full range of emotions. They respond to positive expressions of friendship and they are hurt and upset by inconsiderate behavior.

Resource: NDSS (National Down Syndrome Society)

Sunday, October 6, 2013

31 for 21 Challenge: Day Six. Statistics

This is a blog entry from 10/11/2012:

1 in 691 babies, in the U.S., are born with Down Syndrome yearly.

Reportedly, 88% of all cases arise from the mother's chromosome 21.
8% arise from the father's chromosome.
2% arise from mitotic errors after fusion.

Translocation Down Syndrome account for approximately 4-5% of all DS cases.

Nothing 'causes' Down Syndrome - it's no-one's fault.

66-89% of individuals with Down Syndrome have some level of hearing loss.

Chances of developing pneumonia are 62x higher in people with Down Syndrome.

The risk of leukemia is 15-20x higher in individuals with DS.

Seizures occur in 3-13% of people with Down Syndrome.

Approximately 50% of children with DS have congenital heart disease.

100% of people with DS will develop signs of Alzheimer's past the age of 35.

92% of pregnancies with a prenatal diagnosis of DS are terminated.

80% of babies with Down Syndrome are born to women under the age of 35.
Mom's AgeRisk for trisomy 21 (Down syndrome)Risk for all trisomies
201 in 1,6671 in 526
211 in 1,4291 in 526
221 in 1,4291 in 500
231 in 1,4291 in 500
241 in 1,2501 in 476
251 in 1,2501 in 476
261 in 1,1761 in 476
271 in 1,1111 in 455
281 in 1,0531 in 435
291 in 1,0001 in 417
301 in 9521 in 384
311 in 9091 in 384
321 in 7691 in 323
331 in 6251 in 286
341 in 5001 in 238
351 in 3851 in 192
361 in 2941 in 156
371 in 2271 in 127
381 in 1751 in 102
391 in 1371 in 83
401 in 1061 in 66
411 in 821 in 53
421 in 641 in 42
431 in 501 in 33
441 in 381 in 26
451 in 301 in 21
461 in 231 in 16
471 in 181 in 13
481 in 141 in 10
491 in 111 in 8

There are approximately 6,000 Down Syndrome diagnoses, in the U.S., each year.

There are more than 400,000 people in the U.S. living with Down Syndrome.

Odds of having a child with Down Syndrome increase based on mother's age as shown here:

Frequency of Down Syndrome
Per Maternal Age

Age (years) Frequency of Fetuses with Down
Syndrome to Normal Fetuses
at 16 weeks of pregnancy
Frequency of Live Births of
Babies with Down Syndrome
to Normal Births
15 - 19 ---- 1 / 1250
20 - 24 ---- 1 / 1400
25 - 29 ---- 1 / 1100
30 - 31 ---- 1 / 900
32 ---- 1 / 750
33 1 / 420 1 / 625
34 1 / 325 1 / 500
35 1 / 250 1 / 350
36 1 / 200 1 / 275
37 1 / 150 1 / 225
38 1 / 120 1 / 175
39 1 / 100 1 / 140
40 1 / 75 1 / 100
41 1 / 60 1 / 85
42 1 / 45 1 / 65
43 1 / 35 1 / 50
44 1 / 30 1 / 40
45 and older 1 / 20 1 / 25

When we first learned about Josiah having Down Syndrome, these numbers meant more.  We took them more seriously.  The numbers, at times, frightened us.  That isn't true any more.  Josiah is just a little boy.  He's OUR little boy.  He's one of three!  Having children can be risky.  Being 'sure' about their future can be speculative.  We couldn't be happier with the family we have.  We couldn't ask for better children.  If we could go back and do it all over again.....

.....we wouldn't change a thing.

"Give me a firm place to stand, and I will move the earth."
- Archimedes

Saturday, October 5, 2013

31 for 21 challenge: Day Five. The End of an Era

The choice to breastfeed Josiah was an easy one.  It had been unsuccessful with the first, but a perfect experience with the second.  I saw no reason it couldn't be the same with Josiah.  I read all the negative reviews about breastfeeding a child with Down syndrome.  "It's rarely successful because of the low muscle tone," "...because of the common failure to thrive, these babies commonly need additional supplementation," and so on.  By all accounts, I had no reason to believe I should try.

Anyone that knows me, however, knows that I will stand up for what I believe in.  I believed it was right for me, and my child.  So, there the dream began.  While still pregnant, I made my intentions known.  I was going to do the impossible (or at least very difficult): I was planning on breastfeeding my baby with Down syndrome.

I knew right away that Josiah had low muscle tone.  Although he understood what to do, and demonstrated some interest, sucking was not easy for him.  It was obvious.  He worked hard for every sip of milk he took.  It was time consuming, exhausting, and tested every ounce of patience I had.

Josiah breastfed exclusively, for about five months.  He weighed 9 pounds at five months.  Our first weighed 15 lbs at the same age.  Our second, weighed 13 lbs.  On 3/12/12, I wrote the following in my blog:

"We took Josiah to the cardiologist today for his first office follow-up appointment, since his surgery.  His EKG was great!  Then, they weighed him.  He weighed in at 9lbs 1.3oz.  At best, given that each office has it's own scale, he neither gained nor lost weight.  At worst, he lost 2oz since last Friday (at the pediatrician's office).  I cannot begin to describe the feeling of complete exasperation, frustration, and despair.

Perhaps it seems like a small thing; perhaps it is.  All I know is this: Josiah weighed 7lbs on 10/12/2011.  Today, 3/2/12, he weighed 9lbs 1oz.  He will be five months old, in ten days.  At J1's four-month check up, he weighed 15lbs.  J2, at the same check up, weighed 13lbs.  I know the DS plays a role in the slow weight gain, but this isn't right. 

We (the professionals and family alike) believed that the heart problems were contributing to his slow weight gain.  That excuse can no longer be used.  Today's appointment confirmed that Josiah's heart is perfect (a wonderful piece of news that I cannot negate).  Is it the Down Syndrome?  Is it a feeding issue?  Is he not getting enough calories?  Does he simply need more calories than an average child?  Should we start feeding him cereal?  UGH!  The questions race through my tired mind.

The surgeon was very pleased with the outcome of Josiah's surgery.  Josiah's heart "sounds perfect."  His color is good.  "He looks like a different kid."  "He looks more mature in the way he's moving around."  However, "I expected him to come in here having gained a lot of weight so this is disappointing."  (Yeah, tell me about it!)

Up until now, Josiah has been exclusively breastfed.  He doesn't like the bottle; he won't drink from a bottle.  Since surgery, he's been eating every 2-3 hours.  It seems impossible to me that the child has gained no weight but numbers do not lie.  I don't know what to do....that's the feeling.  I hate that feeling.  I'm tired and feel I has so little left to give....

We made our way out of the cardiologists office.  I immediately walked down the hall to the pediatrician's office.  I talked to our favorite nurse M.  I voiced my frustration.  I asked if we should start Josiah on cereal.  I assured her we were doing everything we could to properly nourish our son.  She already knows that we are.  She said she'd call me later.

We did a few errands, picked up Jesse from school, and made our way home.  I was exhausted.  I left a message for our EI worker K.  I know I'll hear from her as soon as she's available.  This afternoon I fed and usual.  I went to the store for groceries and bought a different type of bottle - maybe Josiah will drink from this one.  It's worth a try.

I talked to M from the pedi's office.  The MD said we can start Josiah on cereal.  I needed more than that.  I didn't know what I needed, but that wasn't enough.  I guess I wanted an instant fix....  I was so emotionally spent, my mind couldn't form concrete thoughts by which to gain more information.  I ended the call for lack of knowing what else to say.  Carl was very supportive of my frustration level.  He called the MD's office back again and spoke with our pediatrician.  The pedi is sympathetic to the situation and understands the frustration level.  He suggests the OT (as the cardiologist did), a nutritionist (specifically with the DS clinic), formula if possible, cereal, the new bottle, and high-calorie formula if we request such.  We'll see the pediatrician next Thursday for another weight check.

I called the lactation specialist KF and heard back from her promptly.  We chatted for some time.  It's nice to have someone who knows the frustration of breastfeeding a baby who doesn't gain weight.  She offered some great suggestions.  One by one, I'll try them all.

I talked to K for quite some time after.  She is another fantastic support.  K will put in a referral for OT early next week.  It will be, specifically, for feeding.  I've entrusted that task to her.  We'll see K on Monday and will discuss the details further.

Tomorrow, I'll email A from the DS clinic.  I'll explain what's going on with Josiah.  I'll ask her what I need to do to initiate a consult with one of their nutritionists.  I'll probably hear back from her on Monday.

It's the weekend now....two days, at home, with my wonderful family.  I'm going to try to relax a little.  I'll attempt some of the new suggestions given to me.  Hopefully something will work.  I'm going to try to not let it become all-consuming (although it already feels that way sometimes). 

In the end, everything will work out.  Even the cardiologist said "this is just another little hurdle we have to climb over."  Everything will work out.

Climbing up the down staircase isn't always easy....but it's worth every single step <3"

And so it continued...  I continued to breastfeed.  Ultimately, we added cereal and began supplementing (minimally) with formulaLittle by little, Josiah started gaining weight.  The peanut that once fell 'below the line' on the DS  growth chart, now charts on the 90th percentile.  On the 'normal' growth chart, he didn't even plot on the chart, now charts at around the 50th percentile.

I have to give credit to an unknown friend and support.  By that, I mean a person whom I have never met.  She is my friend KF.  She is a lactation specialist and has been an unwavering support during every frustrating moment.  She returned every call, called me consistently, researched, and supported my every attempt to make it all work.  Without her, I am convinced that my breastfeeding quest with Josiah would have failed.

Instead, Josiah is turning two in 8 days.  He has breastfed this entire time.  I worried about having to wean him, but HE made all the choices.  In the early part of summer, he decreased his nursing to once a day (first thing in the morning).  I could see the end coming near.  In August, he had the croup & we enjoyed what I call 'the last hoorah.'  For four days, while sick, he breastfed 4-5 times per day.  I kept asking him if this was his last hoorah.  Once well, he went back to once per day.  If he was testing me, I proved that he would get anything he needed.  If it was just for comfort, he got that too.

Regardless, yesterday he woke up and decided he was all set.  He didn't nurse.  He had no interest.  He's growing up and I know it.  I didn't push and told him it was ok to be a big boy now.  And so it was.  We went the day without breastfeeding.  Today, like yesterday, he woke with no interest in breastfeeding.  Day two and he's done it all himself.

Though I miss that certain bonding time, I have been fully prepared to see it end.  I will forever remember, and enjoy, the last hoorah that Josiah gave to me in August.  He knew I would miss it.  He, too, knew he was letting go.  And so it is.  We have reached the end of an era.  He's almost two, almost 27 pounds, and has said good-bye to breastfeeding.

“Never give up on what you really want to do. The person with big dreams is more powerful 
than the one with all the facts.” ~ unknown author

Friday, October 4, 2013

31 for 21 challenge. Day Four. There is a Look.

I laugh sometimes when I tell someone (a stranger) "Josiah has Down syndrome," and they respond "I know." I forget that there's 'a look', certain characteristics, that can be easily identified. 

Some of the common ones include: 
  • Poor muscle tone;
  • Slanting eyes with folds of skin at the inner corners (called epicanthal folds);
  • Hyperflexibility (excessive ability to extend the joints);
  • Short, broad hands with a single crease across the palm on one or both hands;
  • Broad feet with short toes;
  • Flat bridge of the nose;
  • Short, low-set ears; and
  • Short neck and small head;
  • Small oral cavity; and/or
  • Short, high-pitched cries in infancy.
No child or adult has all of the characteristics.  You might be hard pressed to find two with the exact same characteristics.  There are over 50 common characteristics of Down syndrome.

Josiah definitely has the low muscle tone and folds of skin at the inner corners of the eyes.  He is most definitely hyperflexible.  He does not have the single crease across the palm of his hands, nor does he have a small head. 

Long before I had Josiah, I could spot a child with Down syndrome a mile away. They are so gosh darn cute. There IS a look though. Of course, Josiah is mine. Of course I know he has Down syndrome. But first and foremost, he's my son. I don't see Down syndrome. I simply see my beautiful little boy.

Thursday, October 3, 2013

31 for 21 Challenge: Day Three. Never a Burden

"This baby will make life miserable for your other two boys."  "He will be a burden."  That's what someone told us upon hearing that we were choosing to keep Josiah (and his extra 21st chromosome).  

Studies indicate that siblings of individuals who have Down syndrome demonstrate higher levels of maturity, acceptance, wisdom, and empathy, as compared to their peers.  In short, they are better people :)

From the moment we told the older boys that we were expecting Josiah, they looked forward to meeting their partner in crime.  When I told them that Josiah had Down syndrome, it was of no consequence to them.  Josiah was their brother, and they were waiting to love him.

When Josiah was born, he was immediately accepted.

Josiah is just one of the boys.  He is loved and adored.  The older boys play with him, talk to him, include him, hug him, kiss him, and share their toys with him.  With their brother, the older boys demonstrate patience, humility, and grace.

Josiah belongs here.  He belongs with us.  He's one of us.

It would only have been miserable, if we had not had the opportunity to call Josiah ours.

We are truly blessed.

Wednesday, October 2, 2013

31 for 21 Challenge: Day Two. Audiology

When Josiah was born, he failed his newborn hearing screen.  We were sent for a follow up a few weeks later.  Although he passed, he already demonstrated 'borderline normal/mild hearing loss.'  It was explained that this is common in children with Down syndrome.  In part, their particularly small ear canals can play a role.

Josiah has had audiology follow-ups locally, as well as at Children's.  At Children's, the results are always 'inconclusive.'  Locally, they tell us Josiah can hear, but not as well as other children his age.  Simply put, his inner eardrum could hear at 0.3 & 0.5 levels.  Listening to speech, he could hear sounds as quiet as 25 db (normal is 20 db or less).  Hence, he is always labeled 'borderline normal/mild hearing loss.'

Three weeks ago, Josiah got tubes in his ears.  

Today, we went locally for a audiology follow-up.  His inner eardrum could hear at levels 1.3 & 1.6.  The tubes have more-than-doubled his capacity to hear.  While listening to speech, he could hear sounds as quiet as 10 db.  The results were NORMAL!!!  His hearing falls within normal limits!!!

We go to bed tonight, very always :)

Tuesday, October 1, 2013

31 for 21 Challenge: Day 1: DS Awareness

October marks Down syndrome awareness month.  I have decided to, once again, participate in the 31 for 21 challenge.  This means that each day during the month of October, I will post a fact/thought/etc about Down syndrome.  It is all in an effort to raise awareness for Down syndrome.

I was twelve weeks pregnant, when the word 'markers' was used as a warning.  A routine test indicated that the skin of the back of Josiah's neck was too thick.  This was the first possible sign of a 'problem'.

As the next several weeks passed, more markers became evident.  Josiah's leg and arm bones appeared shorter than 'normal.'  The bridge to his nose appeared (possibly) flatter.  He appeared to have a hole in his heart.  As the number of markers grew, so did the chance of a Trisomy 21 diagnosis.

At 19 weeks gestation, we decided to have amnio.  We hadn't had the test with our first two boys.  This time, it seemed the responsible thing to do.  We knew it would either confirm or disprove the theory of a chromosomal abnormality.

48 hours after the amnio, our OB called.  I think it was the only time he has ever called our house.  The preliminary report was in.  Josiah, in fact, had three copies of the 21st chromosome.

We were relieved that it was Down syndrome.  Trisomy 13 or Trisomy 18 were two possibilities we had feared.  It was neither; We were relieved.  That was on a Wednesday.

On Sunday, we decided to share the news with family.  

At no time did we ever consider the possibility that we wouldn't keep, and raise, this life we had been gifted.  Any suggestions to the like we immediately, and vehemently, discarded.

As Josiah nears his second birthday, I remain in awe of a beautiful boy with an extra chromosome.  He has added life, love, laughter, and spirit to our home and family.

We have no regrets.