1. family and parenting
2. children

P.O. Box 724
Boca Raton, FL 33429-0724
DECEMBER 2014
ISSUE NO. 74
You are not alone.
Family Helpline (561) 395-4252
info@chromodisorder.org
www.chromodisorder.org
Chromosome Disorder Outreach, Inc. is a non-profit organization,
founded, supported, and run by parents just like you.
A Letter From Our President
By Linda Sorg (mom to beautiful daughter, Elizabeth, unbalanced translocation chromosomes 5p;7q)
Hi everyone –
If you are at all like me – you probably sprint through each day, desperately trying to get
everything accomplished that needs to be done. Kids, pets, your spouse, job (not necessarily in
order of importance!) and everything in between can make life overwhelming at times. Our
constant connectivity through smart phones and tablets, a blessing in many ways, has also
doomed us to even less leisure time.
But it is my wish for everyone that as the holidays approach this year you find a way to slow down
a bit, relax and maybe even do nothing once in awhile. In our crazy busy hectic worlds, this
seems unthinkable. But it is possible I think and may even help bring more peace and contentment to our lives that are
sometimes so stressful.
Here’s to a day (ok, maybe only an hour) of just watching the world go by!
Wishing you all a happy and healthy holiday season and most importantly time to spend with cherished family and friends.
Warmly, Linda
linda.sorg@chromodisorder.org
IN THIS ISSUE
Lydia’s Story
4 Book Corner
5
Ask the Doc
7
Peer Mediated Instruction & Intervention
8 Getting to Know Charilyn
9
Resources
11
Meet Naylah
12 Inspiring Attitude
14 What’s New in Chromosome Research 15
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Lydia’s Story
CDO Board Members
By
Linda Sorg
CDO President
Darlene Axelsson
CDO Co-President
Heidi Lerner
Director
Adreanna Tarwater
Treasurer/Director
Kelly Paulson
Director
Volunteers
Lori Anne Wachter
Newsletter Editor
Julie Hofer
Library
Laura Cassenti
Website Content Management
Medical Advisors
Michael D. Graf, MS, CGC, MBA
Sr. Clinical Account Manager
DNA Direct / CareCore National
Shashikant (SHASHI) Kulkarni, M.S
(Medicine), PhD, FACMG
Director of Cytogenomics and Molecular Pathology
Washington University School of Medicine
at St. Louis
Dr. Iosif Lurie
Medical Geneticist
CDO Consulting Geneticist
Andrew R. Zinn, M.D., Ph.D.
Professor of Internal Medicine
Associate Dean, Medical Scientist Training Program
University of Texas Southwestern Medical
School
Sally Schaeffer
So many of us take having a healthy child for granted. When we are young and carrying
our precious bundle of joy inside us we often don’t stop to think of special needs. My
first child, I did all the time. It felt like seeing special buses on the road were inevitable
and I would wonder if I would be “that mom.” However, when my first son was born he
was healthy and grew normally and as expected all fears subsided.
A few years later my husband and I decided to expand our family and on December 4,
2006 made the calls to everyone in excitement we found out we were having our girl. A
boy and a girl…seemed so perfect. So complete. I clearly remember my mother
screaming, thrilled to shower my daughter with love, attention and pretty pink things.
However, our excitement soon became rattled when soon after finding out her gender
we were told she may have special needs. They specifically shared they believed it was
Downs Syndrome however after an amniocentesis they told us our baby would be totally
fine. As a mother you have this gut instinct. The one that tells you that while you
should trust tests you don’t feel entirely confident of the science. Unbeknownst to me at
the time, this gut instinct is what I found led me through 7 years of raising a special needs
child.
Lydia was born the morning of April 19, 2007 entering the world without tears and to
us appeared to be a quiet, content child. We felt blessed having our physician tell us that
she was fine and didn’t appear to be anything but normal. Although she had a very
strong heart murmur cardiologists just five days after her birth confirmed once again she
was ok and it was a common ailment they often saw reverse itself after time.
Months ensued and our little girl struggled to nurse and sleep. She often would nurse
for just a short time, get exhausted and fall asleep only to wake soon after to want to
nurse again. As a mother, months of sleepless nights began to take its toll. I kept
thinking how different she was from my first child but little did I know how different she
would be.
At three months my motherly instinct kicked into full gear and as I visited a friend I
shared that I felt our Lydia wasn’t tracking toys, me and objects like she should. My
girlfriend laughed and held a toy to our sweet pea’s face only to watch her follow it the
entire time. However, one example couldn’t shake this mother’s thoughts of what
might be going on. It wasn’t long after that I called her pediatrician in the quiet of my
office cubicle to say the following: “I think there is something wrong, she has an atrial
septal defect, pulmonary stenosis, pectoral excavatum, born with 2 impacted teeth and
now I see she has low muscle tone. I think we are looking at everything individually
without looking at the whole picture – something caused these things to happen and I
believe we are missing something.”
That one call, the one made all alone entirely on mother’s instinct is what prompted a
follow up visit and an immediate inpatient stay due to a kidney infection where genetic
testing ensued. Five short weeks later through a microarray it was confirmed our sweet
girl had 9q34.3, several years later named Kleefstra Syndrome. As we were given the
diagnosis my husband asked “how many have this particular syndrome? “ The genetic
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counselors response “50 documented cases.” My husband quickly replied “in Wisconsin?” The counselors reply, “no sir, in the world.”
We were forever changed after the diagnosis. With so few documented cases at the time our only guidance at the time is what their
parting words to us in that meeting “Lydia would show us the way, she would guide her path.” As you can imagine she didn’t waste any
time throwing us into the complex medical world with immediate trips to the ER, over 10 specialists and early intervention services
several times a week.
For 7 years Lydia had over 25 hospitalizations, many trips in an ambulance and plenty of scary events. Early on in her life, due to her
muscle tone, she suffered from respiratory illnesses and other infections that often landed her in the hospital for days on end. She also
started having seizures at the age of 1 ½, various infections and GI issues which resulted in a restrictive diet.
In June of 2013 however we received our biggest blow yet. After having seizures that required rescue medication we knew something had
changed neurologically. After an overnight EEG physicians made their way into her room as if they were giving us a death sentence. The
posture and their demeanor told me as a mother so much as I sat there quietly by myself not expecting the news they were about to share.
As Lydia lay sleeping, so content, so sound I was told she was actually seizing. The newest diagnosis, Electrical Status of Slow Wave Sleep,
a rare seizure disorder was given to her because in her sleeping hours, unseen to the naked eye, she was seizing over 80% of her sleep. Her
brain was incurring electrical activity almost her entire sleeping hours which not only caused her not to get a deep sleep but is also very
dangerous to have that much electrical activity for so long.
As a mother, I lost it. I sobbed in that glass room as I called my family to tell them. Something in me as a mother told me this wasn’t just a
diagnosis – it was a life sentence. How long we would have only time would tell. As always I rallied and we embarked upon test after test
and medication after medication to stop what I coined as the seizure beast that was invading my daughter’s brain. The disorder that was
slowly taking the sweet girl who was non-verbal, diapered, newly walking, mentally impaired child who had worked hard for every goal
and every milestone.
Her neurologist who had seen about 200 of these cases in over 20 years shared that no matter what medication we find to stop them
eventually the medication would stop working. Nothing could stop this horrible seizure disorder. After we celebrated the New Year in
January 2014 we made our way to have a 2 hour discussion regarding brain surgery. Once a very viable option, we met with her
neurologist and brain surgeon only to hear there would be a 50% change this surgery could cure these seizures. It also could not guarantee
they would not come back.
After having that devastating visit we arrived home and having heard about cannabidoil, or CBD, an oil made from the cannabis plant, we
started investigating that option. Only legal in a few states, I immediately started making calls to find out more about it. As if a guardian
angel had already appeared I was able to talk personally to the physician who treated the very first girl I had read about taking the oil
successfully treating her seizure disorder. He heard my passion and encouraged me to start advocating in my State for legal passage. This is
what started the whirlwind of fighting for what would become Lydia’s Law.
After several months of press, visits to our State’s Capitol and advocacy efforts with many other warrior parents a law was passed on April
16, 2014 to legalize CBD oil with an FDA investigational license for the treatment of epilepsy. As you can imagine we stood proud next to
the Governor as he signed his name to a bill hoping to treat thousands of individuals in Wisconsin with an oil that would be high in
cannabidoil and low in THC, which causes the psychotrophic high. Truly a great gift for our little girl who turned 7 just 3 days after the
bill was signed.
On Mother’s Day morning I woke up 4 hours away from my home celebrating the weekend with my own mother. It had been a beautiful,
short trip as we experienced warmer weather than normal. As I was about to enjoy my last day getting my own respite from my special
needs world I received a frantic call from my husband. Through tears and screaming he told me our daughter was blue and had blood
coming from her nose and to quickly get home. As a mother the instinct kicked in again and I started making calls to get help and support
to my home. As I dialed my husband again I already knew the words he would tearfully say through the phone….”she’s dead.”
As I made the trek home in silence I thought about the last 7 years and all that we embarked upon as a special needs family – the illnesses,
the therapies, the advocacy, the fighting day in and day out so she could be with us just one more day. Our hopes in the bill and approval
of the CBD changing her and our lives gone in an instant. Three days after her death, our Governor called me directly to ask me if the bill
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just recently passed could be named “Lydia’s Law”. We gladly obliged and received a signed, framed declaration a few days later just in
time for her funeral.
Even after the bill and her death there is still struggle to get the CBD oil here in Wisconsin. The FDA investigational provision attached
to the bill is in essence a clinical trial in which many big hospital systems do not want to partake in. As I write this article I am still
working with our legislators to change the bill not only Statewide but help with a Federal bill as well. My little girl left a huge legacy and
she continues to give me the strength and perseverance to keep going – keep fighting. If I learned anything from her it was to never give
up, keep going and keep going with my gut.
To see news stories and more information about Lydia’s Law go visit www.lovinglydia.com and visit my blog where I write about
continuing to find love and strength through our tremendous loss.
~~~~~
Mothers of Disabled Children Find Some Help for Anxiety
Many studies have focused on therapies for children with severe disabilities but their parents’
stress has been largely overlooked. A new study published in Pediatrics (July 21, 2014)
suggests that mindfulness techniques can help moms caring for profoundly disabled kids.
Mindfulness techniques worked better to reduce stress and depression in parents than positive psychology
intervention. For more details and individual study citations please visit: mindful.org/researchroundup
Link to abstract published in Pediatrics: http://pediatrics.aappublications.org/content/early/2014/07/16/peds.2013
-3164.abstract
Editor’s Note: The full article requires a paid subscription to the journal. The title of the full article is “Reducing Distress in
Mothers of Children With Autism and Other Disabilities: A Randomized Trial”
(doi: 10.1542/peds.2013-3164)
An excerpt from our blog: Surgery from a parent’s point of view by Meshell LaBaun
You have ben told by one of your child's doctors that surgery is recommended to resolve an issue, what do you do now? In my experience this
recommendation was never expected. My son was diagnosed with club feet prior to birth, I have weeks of preparation for his birth and knew
that he would be placed in casts within a week after hospital discharge and a few months later he would have an outpatient surgery.
Of course life did not happen that perfectly.
Read the rest of the story at: blog.chromosomedisorder.org
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CDO Book Corner
Will I Be on Television? A special needs child who wouldn’t Give Up by Jan Amis Jessup
My daughter wasn't breathing. You'd think that was the worst that could happen...but no. It was just the start of a dreadful,
frightening journey. She lived. She lived...but was changed forever. Now, my daughter and I began the lonely fight against the
doctors, her father, family, and those who said her brain-damaged being belonged in an institution, without any hope for a
good life. Had I listened, so very many would not have experienced Lindsay's sparkle, her courage, her humor, and her light.
So many would not know Lindsay's story, or have the advantage of her book, providing answers to the search for information
and help for those facing the same difficult journey. Will I Be on Television? A Special Needs Child who Never Gave Up, the
chronicle of my
daughter's amazing life, is a how-to for families in similar circumstances, those who are experiencing the
challenges of Autism, Down syndrome, or who have other special needs obstacles. Herein, I offer hope, many success stories,
and most importantly, countless resources, including a section by Susan E. Folstein, M.D, Twice Lifetime Achievement
Award recipient, for her work in autism and genetics.
Beautiful Eyes: A Father Transformed by Paul Austin
In 1987, Paul Austin and his wife Sally were newlyweds, excited about their future together and happily anticipating the birth
of their first child. He was a medical student and she was a nurse.
Everything changed the moment the doctor rushed their infant daughter from the room just after her birth, knowing instantly
that something was wrong. Sarah had almond-shaped eyes, a single crease across her palm instead of three, and low-set ears—
all of which suggested that the baby had Down syndrome.
Beginning on the day Sarah is born and ending when she is a young adult living in a group home, Beautiful Eyes is the story of a
father's journey toward acceptance of a child who is different. In a voice that is unflinchingly honest and unerringly
compassionate, Austin chronicles his life with his daughter: watching her learn to walk and talk and form her own opinions,
making decisions about her future, and navigating cultural assumptions and prejudices—all the while confronting, with poignancy and moving candor, his own limitations as her father.
It is Sarah herself, who, in her own coming of age and her own reconciling with her difference, teaches her father to
understand her. Time and again, she surprises him: performing Lady Gaga’s "Poker Face" at a talent show; explaining how the word "retarded" is
hurtful; reacting to the events of her life with a mixture of love, pain, and humor; and insisting on her own humanity in a world that questions it. As
Sarah begins to blossom into herself, her father learns to look past his daughter’s disability and see her as the spirited, warmhearted, and uniquely wise
person she is.
The Special Needs Parent Handbook: Critical Strategies and Practical Advice to Help You Survive and Thrive by Jonathan Stinger
The Special Needs Parent Handbook provides practical advice for any parent of a child with special needs, for caregivers of children with mild learning disorders to those with severe cases of autism, cerebral palsy or other disabilities.
Learn more about:
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Hiring babysitters and free respite help
Finding the best and kindest doctors
Keeping the family together
Taking care of your health
Strategies for inclusion and recreation
Being a strong advocate for your child
Planning for the future
(Continued on page 6)
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CDO Book Corner
Dads of Disability: Stories for, by, and about fathers of children who experience disability (and the women who love
them) by Gary M. Dietz
Dads of Disability™ is a collection of 41 essays and poems rich in context and imagery that illustrate a father’s perception of and
reaction to being a father of a child that experiences disability. From before and through birth, to diagnosis, to the workplace, to
serious medical or behavioral issues, to father’s support circles, and much more—including aging and death—many inflection
points are explored by the fathers themselves as well as the mothers and children in their lives. Each entry focuses on male and
fatherhood themes. This is not a 'how-to' book or a book of '5-ways to do this' or '10-ways to do that.' Rather, this collection uses
a storytelling approach to illuminate the emotional lives of these fathers. Dads of Disability will begin or extend the conversation
between and amongst fathers, mothers, extended families, care circles, and individuals with disabilities themselves. This book is
for fathers and mothers. For friends and support circles. For care professionals. For teachers. For friends trying to understand their
neighbor’s challenges. For anyone interested in the variety of the emotional lives of fathers whose children experience a disability.
Regardless of the age of the father, the child’s challenge, or even the gender of the essayist (remember, they are not all men!),
Dads of Disability strives to paint pictures of a variety of different men who have one thing in common—they deeply love a child
who experiences a disability. Topics of essays and poems include: - A woman who chooses to live with her ex-husband to enable her children’s father to
continue to be in their life on a regular basis. - On his way back from an airplane lavatory, a man gets into an interesting discussion with a flight attendant
about fatherhood. - A husband’s rising in the middle of the night is finally understood and accepted by his dedicated and supportive wife. - A father considers running away, but he visualizes his own, now-deceased father teaching him why he needs to stay with his daughter. - A senior citizen reflects on his
family’s care of his late brother. - Over time, labels come to have different meanings to a father. - A father’s accepting and helping with his child’s sensory
challenges helps him accept that he has the exact same issue. - A poem where hoodlums can’t stop a man from enjoying his iPod. - A life filled with adaptations is explored in a reminiscence of the same event by a mother, her husband, and their adult child. - A 3 year-old teaches us all a universal lesson in fewer than 60 words. And many more...
The Invisible History of the Human Race: How DNA and History Shape Our Identities and Our Futures by Christine
Kenneally
The Invisible History of the Human Race is a deeply researched, carefully crafted and provocative perspective on how our stories,
psychology, and genetics affect our past and our future. Christine Kenneally draws on cutting-edge research to reveal how both
historical artifacts and DNA tell us where we come from and where we may be going. While somebooks explore our genetic inheritance and popular television shows celebrate ancestry, this is the first book to explore how everything from DNA to emotions
to names andd the stories that form our lives are all part of our human legacy. Kenneally shows how trust is inherited in Africa,
silence is passed down in Tasmania, and how the history of nations is written in our DNA.
~~~~~
Be the 4000th person to ‘Like’ CDO on Facebook and win a beautiful
CDO Pearl Awareness bracelet
Description: This lovely bracelet was created using Swarovski 8mm Crystals, Swarovski 8mm
Cream Pearls, Swarovski 8mm Clear AB Rondelles, Sterling Silver Heart Toggle Clasp and
Awareness Charm.
Included is a lovely Sterling Silver Heart Charm with your child's specific chromosome number
hand-stamped on it.
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Ask The Doctor
by
Dr. Iosif Lurie, Medical Geneticist, CDO Medical Advisor
Question: My amniocentesis test results show UPD 5. Would you please explain these findings? I’m very
concerned.
Answer: In normal conditions the fetus receives one chromosome 5 from the mother and another from the father. Analysis
showed that your fetus has both his chromosomes 5 from the same parent. This analysis could not tell whether these chromosomes
are maternal or paternal. It is a isodisomy for the whole chromosome 5.
All human chromosomes carry hundreds genes, many of these genes are related to human disorders. Basically all genes causing
disorders may be subdivided into 2 groups. 1) Dominant genes cause disorder even when one gene is affected but the homologous
gene on the other chromosome is normal. Because (we presume) you and your husband do not have any genetic disorders we think
that neither of you has any disorder-related dominant genes. 2) Recessive genes cause disorder only if the child (fetus) has the same
abnormal genes on both chromosomes (in your case on both chromosomes 5). The condition when both genes are the same calls
homozygozity. Because your fetus has two identical chromosomes 5 he is homozygous for all genes located on this chromosome. We
do not know however if you or his father have any mutated (abnormal) genes on this chromosome. But if the inherited chromosome 5
has any mutated recessive genes the fetus may have a disorder, caused by this mutation.
There are no indications that persons with UPD have additional risk beside expression of recessive genes.
Analysis further showed that the fetus does not have deletions or duplications of any chromosomes, including chromosome 5.
Each chromosome consists of several areas, and each area includes several specific genes. When we know that, for example, an individual has a deletion of 5p13.3p15.3 we know which genes are lost and what can be expected in that case. It is like if we know that a
certain bookcase in the library contains books about the Civil War but we know that this bookcase was destroyed during a flood. We
know now which books were lost.
Editor’s Note: Uniparental disomy (UPD) occurs when a person receives two copies of a chromosome, or of part of a chromosome,
from one parent and no copies from the other parent. UPD can be the result of heterodisomy, in which a pair of non-identical
chromosomes are inherited from one parent or isodisomy, in which a single chromosome from one parent is duplicated.
UPD can occur as a random event during the formation of egg or sperm cells or may happen in early fetal development. It can also
occur during trisomic rescue.
Trisomic rescue (also known as trisomy rescue or trisomy zygote rescue) is a genetic phenomenon in which a fertilized ovum
containing three copies of a chromosome loses one of these chromosomes to form a normal, diploid chromosome complement. If
both of the retained chromosomes came from the same parent, then uniparental disomy results.
SAVE THE DATE
Rare Chromosome Disorder Awareness Week is June 7th—13th.
Start planning awareness raising events now!
CDO can help!
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Peer Mediated Instruction and Intervention
Learning how to interact with peers is one of the biggest challenges faced by students with autism spectrum disorders (ASD).
Peer-mediated instruction and intervention (PMII) is designed to improve social interaction skills of students with ASD by
training their peers how best to interact with them (National Professional Development Center on Autism Spectrum
Disorders, 2010). PMII takes place in school settings, and is best led by a teacher who works closely with the student with
ASD. Implementing PMII involves a series of steps, starting with choosing and training peers, followed by implementing
the intervention in structured settings, and eventually extending peer interactions throughout the day. These steps will look
different depending on the age of the students.
The first step of PMII at any age level is choosing appropriate peers to be involved. Select- ing peers is a key part of PMII,
since the peers are interacting directly with the student with ASD. Peers should have good social and language skills, be
well- liked by others, and be willing to participate. Peers should also have a positive history of interacting with the student
with ASD. At younger ages, it is important that peers be able to follow instructions from a teacher. At higher grade levels,
peers should have similar schedules as the student with ASD. In general, peers should be good social role models who are
available throughout the day to have positive interactions with the student with ASD.
Once selected, peers are taught strategies for interacting with the student with ASD. For young children, strategies might
include starting interactions and providing help. For elementary school children, skills include starting and continuing
conversations. At the middle and high school levels, peers are taught how to provide positive feedback, model social skills,
and help the student with ASD interact with other students. To help peers understand the purpose of the intervention, they
are also taught about individual differences and ASD in a way that is appropriate to their age and understanding.
As the peers begin to use their skills in inter- acting with the student with ASD, teachers provide various levels of support.
For the youngest children, teachers plan structured play opportunities with specific toys or games. In elementary school,
teachers might provide scripts for activities and conversation. In middle and high school, teachers work to create
environments that allow for individual peer interaction, including small learning groups. Teachers might also provide structure for lunch interactions, including giving peers ideas for conversation starters. At the early stages for any age group,
teachers provide prompts and reinforcement to peers and to the stu- dent with ASD. Teachers decrease their own
involvement as the students become more comfortable in their interactions.
Moving beyond structured activities, teachers seek opportunities to extend interactions throughout the school day. In
younger grades, teachers might seat peers next to the student with ASD during class activities. More peers may also be added
so the child with ASD can practice skills with other students. For older students, teachers work closely with the peers
to review strategies that work well and brainstorm ideas for increasing interaction. Even as teachers decrease their own involvement, they should continue to monitor the student with ASD and the peers in order to help as needed.
By using peers to model and initiate social and communication skills, PMII can improve the quantity and quality of peer
interactions for students with ASD. PMII has been shown to be effective in early childhood and elementary school for increasing communication and social skills, perhaps particularly for students who have limited communication skills and social interactions. In middle and high school, PMII can be used to build a social network of peers from whom a student with ASD can
observe appropriate social behavior. Moreover, PMII can be individualized to students' needs by teaching peer
to target specific skills, all while providing the student with many opportunities for social interaction. More information on
PMII can be found through the National Professional Development Center on ASD (autismpdc.fpg.unc.edu/) or the Autism
Internet Modules (www.autisminternetmodules.org).
Reprinted with Permission: Corona, L. L., Fox, S. A., & Rinaldi, M. L. (2014). Peer-mediated instruction and intervention. Fall 2014 Newsletter, Center for Autism and Related Disabilities, Albany, NY.
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Getting to know Charilyn (Charly) Curtis
Hello, today I want to share with you things to know about Charly. I am hopeful this will let you know more about her personality, temperament, strengths and weaknesses. Please be patient while I start with some background information.
Charly was born a few weeks early at 35 weeks. She was born very healthy for being so little. No oxygen was needed, the only thing we had
to work on before she was released was learning how to suck, swallow and breathe simultaneously. This was achieved very easily. Once home
Charly was a peaceful baby. She slept thru the night most nights and rarely was fussy. We did have to rouse her for feedings on occasion. All
seemed well and normal until around 4 months of age when she started missing milestones. Being the youngest of her siblings we didn't stress
too much at first, just assumed she was a little lazy. However by her 6 month well baby visit we decided it was time for an evaluation and
intervention. Her doctor referred her to the Indiana first steps program where she was evaluated. She was determined to be low muscle tone
and started physical therapy which was soon followed by occupational therapy. At Charly's 9 month visit she still was not crawling and could
not hold her own bottle so we were referred to Dr. Escobar for further testing due to her delay.
Charly was close to her first birthday when we finally saw Dr. E. After a million questions and evaluation of Charly's fine motor, gross motor,
play skills and a physical exam he told us that she was showing signs of mild autism. I had gone through a lot if possible answers for her delay in
my head. Autism had been one of them. It was in my mind the lesser if many evils. Dr. E also wanted to run some blood tests to rule out a
few other things like fragile x and rett syndromes. He was also doing a micro array to look at her chromosomes. We were also referred to an
early autism intervention study.
As we waited a very long time for the test results that we were sure would be normal we continued on. We added speech therapy after her
first birthday because the only word she would attempt was Mama. Even though she wasn't usually referring to me while she repeated it over
and over it made me smile to hear her voice. At 13 months of age we had put up our Christmas tree. Charly was mesmerized by the lights and
branches. She would roll across the floor to the tree to stare at the lights and pull on the branches. She quickly learned to pull to a stand while
pulling on the branches! This was a surprise for sure because she wasn't even crawling yet. So since the tree was of such interest to her I
started placing her on all fours a short distance from the tree. After a few days my baby girl began to crawl. She would crawl everywhere and
pull up to stand. It felt like she had taken her time but was going to take off soaring any day. Around this time we also began participation in
the autism intervention study. By 14 months she was cruising furniture well but could not let go or she would fall. Her physical therapist
recommended adding SMO boots to stabilize her ankles, so of course we did. We wore those boots for 4 months. In that 4 months we made
no progress at all. She would just sit on the floor while wearing the boots and fuss. She was at this time (18 months) finally developing a pincer
grasp. So we began to offer more finger foods. This has been a struggle since we began table food because she chokes so easily. Her occupational therapist sent us for a swallow study and only findings were slight reflux. However Charly didn't chew properly and still doesnt. We
started offering a sippy cup in hopes of getting away from the bottle. However we had the same issue there. The flow was too fast and she
would begin to choke. Her occupational therapist suggested adding a developmental therapist to work on appropriate play skills while she
focused on feeding issues. By 19 months of age we were up to five therapists.
Finally at 19 months of age we got the call from Dr. E. Although he thought he wouldn't find anything in her blood work, he was wrong. The
genetic counselor said they found some extra genetic material. That's all she would tell me on the phone. My heart sunk immediately, I knew
this was not going to be something we would ever outgrow or overcome. I set an appointment for the next day to go in and discuss their
findings. That entire evening was spent online researching extra genetic material and the various chromosomes. I wasn't sure but she seemed
to fit the issues found on chromosome 15 duplications. So the next day with sweaty palms and heart racing we went to finally get the answer
and to why Charly is Charly and hoped to know where to go, what to do and how to handle our future. They showed us her chromosome
array results. She had a total of 47 chromosome's. A typical person has 46. Her 47th chromosome is made up of mirror image segments of
chromosome 15. These are found in every cell of her body. This is a condition called Isodicentric 15 (idic 15 for short). They couldn't tell us
much as to her future just that its unknown and that every case is different. There are only about 900 cases worldwide. We were given a
booklet on her diagnosis and a list of resources. All we knew now was she would never be normal like her siblings, she would never live on
her own, she would never have children. But what she would be able to do was a mystery. The idea of her talking to us was a far off dream
because most children like her were non verbal. We walked out of that office heartbroken and defeated. We had an answer, but it wasn't a
good one.
The next week was spent scouring the internet to find more information and families like us. There wasn't much medical information. Only a
few sites and they all said the same things. Developmental delay, intellectual delay, cognitive impairment and high possibility of seizures. Most
children never talk, if they do its echolic. Some are potty trained but not until much later than an average child. Almost all were diagnosed
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autistic and have behavior issues. We finally began to find family support groups on Facebook. After asking many questions and getting
suggestions we decided to add hippo therapy to her already long list of therapy. The only key anyone could give us was the early years
are critical to the outcome.
We began hippo therapy immediately. Charly was in love with her therapy horse Choclarage. She would squeal in delight as soon as we
walked into the barn. After only three sessions of hippo her muscle tone was improving greatly and at 20 months our little miracle girl
was walking! She was walking without the assistance of SMO boots i might add. There is something amazing that happens when Charly
is on that horse, something hard to describe. The best way to put it is its like something inside her lights up and turns on you see a
glimpse of the child that seems locked inside.
We returned to Dr. E at 23 months old and were given the expected autism diagnosis. She is still too young cognitively to assess for a
specific autism type other than infantile autism, but he wanted her enrolled in ABA therapy immediately. He was happy to see she
started walking, and was continuing to improve in other areas. However the older Charly has gotten the larger the gap between her
and her peers has gotten. She is now 2 years old but depending on the area of development is considered anywhere from 9- 15 months
developmentally.
So what is life with Charly like you might ask. Well its a never ending adventure roller coaster full of twists, turns, ups, downs and
surprises. Most days are pleasant and she is generally happy, but a bad day is very bad there doesn't seem to be an in between. She still
wears diapers and is no where near ready to dream of potty training. Feedings still can be tricky since she still doesn't chew properly.
That has improved enough that we can let her self feed small finger foods and we spoon feed anything messy. She hasn't developed the
ability to self feed with utensils yet. We also have to keep close watch for over stuffing of her mouth and choking. She is currently
drinking from a fast flow bottle while up and playing or an avent sippy cup when seated during meals. After months of diarrhea we
discovered she is lactose intolerant. Charly finds great delight in playing with textures of all sorts. She likes to bang toys together and is
learning to push buttons to activate toys. Charly finds much fun in water play. She enjoys bath time, swimming or just splashing water
on her high chair. A good calming toy for her has been a back massager that vibrates. She likes to place it on her mouth or chin for
stimulation. Charly also enjoys rowdy physical play. She likes to bounce on a trampoline, be lifted high in the air and swing upside
down. She enjoys cuddles and tight hugs when upset. Charly does have a tendency to bang her head on walls or on furniture. It doesn't
seem to be out of anger more out of boredom. Although she doesn't do this hard enough to harm herself we do our best to redirect her
by placing a hand between her head and the object or by moving her to a new activity. Charly has learned to climb very well however
she hasn't learned the proper way to get back down and still needs assistance so she doesn't fall. She still has not started talking and she
does not point at something she wants so this is still a guessing game for us. We are working on sign language, but the only sign mastered at this time is more. She will nod yes and shake her head no in response to questions if asked a few times. Recently I have noticed
she is learning the meaning of some signs just not mimicking them. I can sign all done or play to her without speaking and she will respond with a nod or shake of her head. Charly still will put things in her mouth that don't belong there like paper and small objects. She
generally finds enjoyment playing with her siblings and other children but doesn't know how to share or participate in back and forth
play with toys well. Although her eye contact has improved drastically it still needs work. At this time Charly has not had a seizure to
our knowledge, however she is still high risk for developing them due to her chromosome duplication. Keep this in mind and be
watchful for anything that doesn't look quite right.
Overall Charly is a very loving affectionate child. She does however have some behavioral issues at times. When she doesn't want to
participate in an activity she will throw herself backwards and scream. This is usually accompanied by tears but all stops when given
what she wants. Although its rare she has been known to bite when extremely upset. One behavior that has improved but still needs
work is shoving her hand down her throat until she vomits. She has developed an aversion to certain sounds these last few months
however. The vacuum cleaner is the number one trigger right now, but she seems to dislike anything that has a motor. She highly dislikes the lawn mower, leaf blower, weed eater, kitchen mixer and electric can opener. Rather than avoiding these sounds she runs toward them and the operator of the device smacking and screaming uncontrollably. Here recently she is also struggling being in noisy
public areas like crowded restaurants. It seems as though most issues are sensory in nature.
Everyday is a new adventure with Charly. She shows us in many ways that things are starting to click for her. It just seems like it takes
much longer for her to process information so she requires quite a bit of patience and repetition. I suppose there isn't much more to
tell you, other than welcome. Welcome to becoming a part of Charlys journey, we thank you for being a part of the team of tools and
teachers along our way.
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Resources
Library Awareness Program - Library Rare Chromosome Disorder Awareness Program! RCDAW might be
over for this year but CDO is still working hard to increase awareness and understanding of chromosome disorders.
Can you help too? Why not ask your local library director if beautiful new CDO bookmarks may be placed near
the circulation/information desk? If ok, simply e-mail us the contact person's name and mailing address (email
address too please) and # of bookmarks desired and we'll mail them directly to your local library.
Support CDO and help the environment – PlanetGreenRecycle.com/chromodisorder
Even though e-waste amounts to only 2% of what we throw away, it amounts for 70% or more of the TOXIC waste
we discard. Electronics contain barium, chomium, lithium, mercury and other chemicals that, left unattended, can
damage the soil and our water supplies. Planet Green Recycle helps people like you discard their e-waste responsibly, and to do so while helping Chromosome Disorder Outreach Inc.
Purchase your 2015 Chromosome Disorder Outreach Inc. Children’s Artwork calendar today! CDO members' art fills this 12 month calendar.
Order yours by clicking here: http://www.zazzle.com/cdo_calendar_2015_final-158743628029136810
Albertson’s Community Partners Program—Do you live in Arizona, Arkansas, Colorado, Florida,
Louisiana, New Mexico or Texas? Become a CDO Albertson’s Community Partner. Albertson’s donates a portion of each
customer’s purchase to CDO. Simply request a CDO partner key card and scan it each time you shop at
Albertson’s. Contact linda.sorg@chromodisorder.org for more details
The Therapy Shoppe...the extraordinary little specialty shoppe for school and pediatric therapists, teachers, and parents too! Check
them out for holiday gifts at: www.therapyshoppe.com
Phone Number: 800-261-5590
E-mail: info@therapyshoppe.com
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Meet Naylah—Trisomy 5q
Naylah – 2.5 years old
Diagnosis :
Trisomy 5q
Heart Problems (tachycardia, ventricular septal defect repair, mild coarctation of the Aorta)
Acid Reflux disease
congenital anomaly of pancreas
Strabismic amblyopia ( eye patch + eye glasses)
Failure to thrive( gastronomy tube)
Global delay
Surgery:
Open heart surgery for ventricular septal defect repair at 9 months
Gastronomy tube at 12 months
Adenoids removed at 12 months
Ear tube surgery at 12 months (total of 3 ear tubes set last one put on October 2014)
Hospital stay for 6 days after Auditory brain response due to tachycardia when waking up from anesthesia.
Austin, Texas: I had a pretty normal pregnancy up until my 20 weeks checkup. We found out then that we were having a girl and that she
would also have heart problems. She was diagnosed with coarctation of the Aorta and chances were that at birth Naylah would have an
open-heart surgery. From then weekly visits with cardiologist until it was time to deliver. At 37 weeks, Naylah had not gain weight from
last visit; they thought it was safer to induce me. May 2nd 2012, Naylah was born. 5lbs5oz and 18.5 inches, most beautiful baby I had
seen. (Don’t we all say that?)
She was born Pink and full of life, surgery was not needed, and we got to bring our baby home from NICU five days after she was born.
We had many follow-up with pediatrician and cardiologist to keep an eye on her heart.
Naylah was growing and her heart was doing just fine, however she was not meeting milestones. She did not smile until she was three
months old, could not tolerate tummy time due to head control. I was feeding her 2-3oz every two hours and she was not a newborn
anymore. It was a tough time, where we could barely get any sleep, because of frequent feedings.
Every time we would go to the cardiologist, he assured us, that it was not due to her heart getting her tired too quickly. He also noticed
that her ears sat too low and her head was too small. At about four months, he suggested to see a geneticist and test Naylah for any
abnormality.
We got that phone call that changed it all. The geneticist wanted to speak with us. I knew then something was wrong, but what could it
be?
Sitting at the office, waiting for answers was hard. When the geneticist came in, she told us Naylah was diagnosed with Trisomy 5q, a
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rare genetic disorder. Only information she could give us, was a printout internet paper from late 1980’s where honestly not much detail
was given regarding that little girl on the article. The main characteristics were there and yes, it sounded just like our daughter:

small head

failure to thrive

heart issues

strabismus

low set of ears

small mouth/jaw

small nose with wide nasal bridge

plagiocephaly

short neck

developmental delay

growth failure
It has been two years, what a two years has it been. I once felt lost and hopeless. I once felt like there was nothing I could do but wait.
There is so much more to it. Two years has gone by, those feelings are far behind, and when they hunt me, I shake it off. Put things back
in place. I feel proud of all she achieves, I feel proud of her milestones. I am proud of being her mother. Yet, every time we are somewhere, I am still curious about children; their ages, their height and weight, and all they can do and compare to my child who cannot do
all that YET. I still try to protect her the best way I can, while showing the world her beauty of being different. I accept that. I accept
the fact she has not reached out all her milestones yet. That she is not talking or eating a full meal orally. It is hard work, teaching her
new signs; showing her how to use her boards with new images. When she eats, it is a patient game, until she shows interest. She needs
help from specialists to get to do things others children her age do. It could have been much worse. She could of been undiagnosed or
medically need more things. She lights up a room with her smile and her cuddles. She is the boss of her own body and mind, when she
wants to do something she will do it, always had, always will.
It is not an easy journey, but acceptance plays a big part. I accept her differences and I am proud of the little human being she is trying to
become. I accept that she may or may not catch up on her delay and she will always have her differences and be behind. That she may
always have different needs than a typical child. Most of all, I accept the fact my head may not be always held high. That I may shed many
tears along the road and have many days of doubts, but that's not because of my child different needs than yours that is "typical", it is
because I am her mother and not everything comes easily, because there will be days I will feel like I failed to do my best and because we
all have days of doubts, of fears, challenges that are not easy and choices to make. Along with that, there will be plenty of moments of
pride, happy tears and big achievements. At the end of the day, two years in this journey or not I am just a mother, trying to do what I
think I do best, raise my child the best way I can. While her, she shows me a totally different world, what once I thought was unknown
became our new normal and it is totally okay.
Thank you for your time and reading our story. For further information Naylah’s blog can be found at: www.naylahstrisomy5q.com or
her Facebook page: https://www.facebook.com/pages/Trisomy-5Q/670124469673440
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An Inspiring Attitude
By Dave Balch
Your attitude is the single most important element of your happiness.
There, I said it. Again.
Why? Because how you choose (note the word “choose”) to react to the events in your life determines how well you tolerate your life. I have
been harping on this for years, and when I come across someone with an inspiring attitude I like to share it with you, and this time I have a
doozy!
Before I can tell you, though, I have to lay some groundwork.
I recently went to Tahiti to see a total eclipse of the sun. (It was my sixteenth eclipse; I admit I’m a bit nutty about it but that's another
article.) The trip involved a two hour drive to the airport, three hours of checking in, security, and waiting at the gate, followed by 8 1/2
hours in the plane. Our group stayed at a hotel in Papaette, the capital of Tahiti, for several days before the eclipse, and then on eclipse day
here is what we had to do: leave for the airport at 2:00 a.m. (yes, in the morning--that’s not a typo), wait for our 4:00 a.m. flight, fly 2 1/2
hours to Hao (a remote atoll in the Pacific), spend about four hours at the airport in Hao to observe the eclipse and all of the various phases,
then fly 2 1/2 hours back to Papaette.
We’re almost there; bear with me.
Half of our group went to a different atoll: same procedure, but a different atoll. Both groups arrived back at the hotel at about the same time
and excitedly compared notes. Sadly, while we had clear skies and an excellent view, the other group had cloudy skies and saw nothing.
(Clouds are the nemesis of eclipse chasers, which is why we are careful about where to choose to go to see them. Even so, it’s always a crap
shoot.)
Now I can tell you about the wonderful attitude! One of the group that was clouded out was Debbie, a woman who I had met earlier in the
trip who was there for her fourth eclipse. Think about it; she went through everything I just described about getting to Tahiti and then to the
atoll (not to mention the expense), only to have cloudy weather and miss the very event that was the purpose of the trip! Can you imagine
how you would feel?
I told her how sorry I was that she missed it.
Here’s what she said: “I just feel sorry for the people who have never seen an eclipse before. How disappointing for them!”
I was blown away. She felt bad for the others, not herself. I consider myself to have a pretty good attitude, but believe me when I tell you that
I was not that charitable the two times I was clouded out on previous eclipse trips, one of which was to Mongolia!
Debbie had an aura about her of peace and tranquility; with an attitude like that it’s not surprising is it? I have no doubt that that aura is due to
the attitude, not the other way around.
I hope that you find her attitude inspiring; I certainly did.
The next time your gut reaction is to get angry about something, think of Debbie and go for the peace and tranquility instead.
To read more of Dave’s wit and wisdom, go to www.empowerher.com
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What’s New in Chromosome Research
A new way to correct a defective “ring chromosome” through cellular reprogramming has the promise to eliminate
abnormalities that cause genetic disorders. An international team of geneticists from Ohio, California and Japan, led
by Anthony Wynshaw-Boris, MD, PhD, researched and discovered how to reprogram a patient's skin cells into
induced pluripotent stem cells (iPSCs). The technique was developed by Shinya Yamanaka, MD, PhD, co-author of
the research study, at Kyoto University. The reprogramming technique has only been applied to cells in cultures, not
people. Correcting structurally abnormal chromosomes is the next step for the research team, which would cover a
broader variety of severe birth defects. The hope is to form a ring chromosome from the abnormal chromosome and applying the
reprogramming technique.
As an MD-PhD student at Case Western Reserve in the late 1980s, Anthony Wynshaw-Boris watched with fascination as researchers
prepared for a journey into uncharted territory.
The international Human Genome Project, launched in 1990, sought to identify and map the complete set of DNA—all 3 billion
letters—in the body. A primary goal was to give scientists tools to diagnose, treat and cure disorders with roots in our genes.
"It was clear that genetics was the wave of the future," says Wynshaw-Boris, who returned to Case Western Reserve last summer and is
chair of the Department of Genetics and Genome Sciences and the James H. Jewell MD '34 Professor of Genetics. "That is when I
decided to become a geneticist."
Today, Wynshaw-Boris is at the forefront of gene-based research. He recently led an international research team that discovered a way to
replace a chromosome that contained a severe defect with a normal chromosome.
Such research has the potential to correct chromosome abnormalities that lead to birth defects, intellectual disabilities and growth
problems. Wynshaw-Boris and his team studied patients who had defective chromosomes shaped like a circle with their two ends fused
together. Normal chromosomes are linear strands of DNA. But these circular, or "ring," chromosomes had missing DNA sequences, an
absence that led to disabling disorders in the patients.
The team took skin cells from these patients and reprogrammed them into embryonic-like cells. They found that, during reprogramming,
the ring chromosomes vanished and were replaced by normal chromosomes.
The reprogramming technique was so groundbreaking that its creator—Shinya Yamanaka, a Japanese MD-PhD investigator, professor
and a member of this research team—won the Nobel Prize in medicine in 2012 for developing it.
To date, the researchers have reprogrammed cells only in cultures, not people. And they have focused on ring chromosomes, which are
quite rare. But they believe their technique could have broader application.
The next step is to attempt to correct structurally abnormal chromosomes—which are far more common and cause a variety of severe
birth defects—by forming ring chromosomes and then using the reprogramming technique.
Source: http://casemed.case.edu/newscenter/news-release/newsrelease.cfm?news_id=193, http://case.edu/think/
spring2014/fixing-defective-chromosomes.html#.VDaqlfldU1I
Read more here: http://www.wndu.com/home/headlines/New-DNA-discovery-could-lead-to-chromosome-therapies-in
-the-future-283076941.html
~~~~~
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From all of us here at CDO to all of you, wishing you
a healthy, happy holiday season!!!
See you next year!
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