CHROMOSOME 18 AWARENESS

A TRIBUTE TO PAULINE THE MAGNIFICENT 

LINK TO WEBSITE

AWESOME VIDEO!!!

PB'S ROCK 'N FUN 

THIS IS THE PB'S ROCK 'N FUN WEBSITE

A HANDS ON COMMUNITY SCHOLARSHIP EVENT

WEBSITE LINK

Dear Friend,
On Easter Sunday 2007, we lost a daughter, a sister, a friend. Pauline Wells Burzio was a vivacious, mischievous 13 year old, whose life was short, but full. Born with what many would consider life hindering obstacles, Pauline found laughter in every day and never allowed herself to be hindered by her medical hurdles.

The Pauline Wells Burzio Scholarship for Music will be awarded to a student who has participated in the music department of Clarke County High School and plans to continue their study of music in higher education.

The Pauline Wells Burzio Empowerment Grant will be awarded to a student from Clarke County High School who receives special services. This grant may be used to purchase goods or services to assist the student in successful transition from high school to life.

MYSPACE.COM - PB'S ROCK N'FUN! 

MySpace profile for PB's Rock N' Run! with pictures, videos, personal blog, interests, information about me and more!

Check this out! Now we're on Myspace, thanks to Alecia! If you have a myspace, definitely spread this around!!!

WEBSITE LINK

Pauline Burzio changed many peoples lives. Everyone who knew Pauline knew what a special little girl she was. She changed many lives when she was alive and even more after she past away. This festival is to honor the memory of Miss Pauline Wells Burzio. All proceeds that come from this "Rock 'N Run" will go toward two separate scholarships for graduating seniors. One scholarship will be for a band student looking to pursue a degree in Music at a 2 or 4 year institute. The other is for a student receiving special ed services at CCHS; the money can be used to purchase goods or services to enable the student to begin a successful transition from high school to life. (If you are interested in applying for a scholarship, send an email to the address listed in the group.) We are hoping to have all different styles and genres of music playing all day non-stop! Pauline loved all different types of music, so we will honor that! SPREAD THE WORD!!!!!

CHROMOSOME 18 REGISTRY & RESEARCH SOCIETY 

OVERCOMING THE OBSTACLES...THAT THEY MAY LEAD HEALTHY, HAPPY, AND PRODUCTIVE LIVES.

WEBSITE LINK

The Chromosome 18 Registry & Research Society is a lay advocacy organization composed primarily of the parents of individuals with one of the chromosome 18 abnormalities. We are also proud to count among our members affected individuals, extended family members and professionals. Membership is open to any interested person. We are a 501(c)(3) non-profit, tax-exempt public charity. Our work is supported by memberships and donations from individuals and charitable organizations. We have met the strict criteria for fiscal responsibility set by the Combined Federal Campaign.

Our mission is to help individuals with chromosome 18 abnormalities overcome the obstacles they face so they might lead happy, healthy and productive lives.

We accomplish this through:
-Service
-Newsletters
-Annual Conference
-Parent Network
-Syndrome groups
-Regional groups
-Education
-Syndrome information
-Public advocacy
-Research
-Funding clinical research

We believe there are no incurable conditions, only ones that have not yet been understood. We are dedicated to seeing that treatments for the abnormalities of chromosome 18 are developed.

How to contact us:
Our office is located at:
7155 Oakridge Drive
San Antonio, TX 78229

The phone and fax number is:
(210) 657-4968

18P- CATHERINE BURZIO

Ten years ago I happened upon the Chromosome 18 Registry and Research Society while surfing the net. New to the whole computer thing, I had no idea how I had found the site, but my life has been completely changed and enriched by the fortuitous find.

I am the mom of four great children and wife of one hugely supportive husband. Our boys are Ashton-18, J.B.-12, and August-9. Our daughter, Pauline, was 13 when she died on April 8, 2007. It has taken me the full brunt of these months since her death to say with confidence; I am the mother of four. Only 3 are here, but we are still a family of six.

Pauline was full of life. She loved her friends, school, being in the junior high praise band at our church...she was a cool kid. But lest you think she was a perfect angel, she had her moments...like the multiple times she was caught pummeling her brothers. Or when she was found to be manipulating the school nurse into giving her chocolate from the private chocolate stash. Or the time she was caught writing something unkind about someone on the back of a bathroom stall! The punishment for that one was for the two of us to repaint the stall. Every time I go into Boyce Elementary school, I use that stall...makes me chuckle remembering.

Pauline was born on March 22, 1994. Two months prior to her birth, I had the first of four amniocentesis' to determine if the baby I was carrying had a genetic condition causing the significant heart anomalies found two days earlier. The test showed she was a girl and she had Monosomy 18p-. Bret and I were flung into a subculture of medicine, terminology, statistics, and uncertainties. On that day, the obstetrician pulled us aside and said we needed to do two things - One, make sure our insurance was in order because this was our million dollar baby - and two, decide whether or not we would stay married. Having a child with special needs is extremely taxing financially, emotionally and spiritually. The divorce rate in the US is around 50%, but adding a child with special needs increases that rate to roughly 80%. Bret and I chose to walk, crawl and run through this journey together. It has made all the difference in our ability to cope and raise our family as a family.

Along with the diagnosis of 18p-, Pauline had multiple congenital heart anomalies (vsd, asd, pulmonary atresia, situs inversus totalis-causing organs to not be in the correct place,etc...), a cleft lip and palate and GI issues. She was expected to be a blue baby no bigger than 3 or 4 pounds. Pauline Wells Burzio entered the world via c-section weighing in at a "petite" 9 pounds and screaming pink. Upon her birth, we learned she had a low set ear nub on her left cheek and an underdeveloped left eye. This, added to the cleft lip and palate is known as hemi-facial microsomia. She was immediately intubated and rushed off for further testing in the NICU. It was a full 3 weeks before we were able to hold her in our arms...a short lived but sweet miracle. After two months, two major surgeries and multiple procedures, we were able to bring our sweet baby girl home from the hospital. No easy feat...she required oxygen, heart monitors, g-tube feeding equipment for round the clock feeds, a list of medicines, and unknown amounts of treatments and procedures which had to be learned. Did I mention neither Bret, nor I ever had any medical training!? We willingly accepted the challenge because a gift was laid into our arms and she was worth any effort it took. Our oldest son, Ashton, was 4 when Pauline was born. He was an amazing big brother through Pauline's entire odyssey. As she grew older, she would ask for him instead of us to meet a need. What a sweet thing for a parent to watch her children caring for each other.

Pauline required Early Intervention services between 3 months and 2 ½ years old. These services gave her Physical, Occupational and Speech Therapies as well as education for our family in how to help her grow and interact effectively with her world. The people we met through the EI services became an integral part of our lives, continuing on even after the services ended. They showed us how to care for her and care for our family as a family. They let us ask questions, cry, laugh and showed us the meaning of building a team and working as a unit with the singular goal of helping Pauline be the strongest member of our family and community she could be. This foundation gave her a huge leg up as she entered school based services at 2½ in an Early Childhood Special Education classroom. Her foundations of learning continued to be honed as our family also continued to be cared for as a family. It was understood that Pauline would not move forward without a safety net of support and therefore, we were a full member of the team...writing IEP's, attending extra trainings and meetings...whatever it took to keep us moving forward together. We continued with the supportive environment through elementary school into middle school, but it took more effort to keep the focus on the family and not just Pauline. We were blessed with individuals along the way who went out of their way to keep communications flowing and services happening to ensure Pauline would be educated well, with her peers.

Medically, Pauline had five heart surgeries, five craniofacial surgeries, at least six ear tube placements (although we lost count around four), and many, many other procedures. Through it all, Pauline remained a content, "normal" child. Normal is a relative term, so we more readily use, typical. She did everything her peers did...t-ball, rec-league basketball, softball, soccer, ballet, snowboarding, church youth group and praise band. She was never at a loss for something to do. Everything was in moderation and all depending on her surgery/recovery schedule, but she didn't care%u2026she just belonged. Our friends and community were a great support through her entire life, and now in her death.

Pauline entered Johns Hopkins Hospital on April 3, 2007 for a planned Fonteyn completion (heart surgery). She did well through the intense surgery, but on April 4, she suffered an unrelated severe brain bleed that ultimately caused her brain to swell and end her life at 4:15pm on Easter Sunday, April 8, 2007. Easter Sunday was fitting for a girl who knew her Creator and loved to worship Him. Pauline was able to be an organ donor and give life to two individuals.

It has been nine months since Pauline's death. Things are just now beginning to sink in that she is really not here, nor will she ever be again. It is an excruciating road crawl. Daily reminders bring laughter and tears hand in hand. Over the last ten years, our Registry family has been a huge part of our circle of support, providing education, research and friendship on this long journey. It has been a privilege for me to serve other families as the 18p- Syndrome Coordinator and now as the Vice President for Member Relations. Serving here has given me the opportunity to use every trial and joy we have been blessed with to turn and encourage someone who comes behind me. And we are beginning a new journey to support families who have lost their children with Chromosome 18 anomalies through the 18 Bereavement Support group. The relationships forged here have given me the opportunity and the courage to address members of Congress, host an international family conference and speak to groups of parents and professionals on the topics of parenting a child with special needs and how to work through early intervention and school based services. The friendships here are priceless...they give me a place to be at home and rest on this journey.

I am not the same person who gave birth to that very pudgy, very sick baby 13 years ago. I am the mom of four amazing kids forever changed, forever grateful.

GENETICS HOME REFERENCE - CHROMOSOME 18 

WEBSITE LINK

What is chromosome 18?

Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 18, one copy inherited from each parent, form one of the pairs. Chromosome 18 spans about 76 million base pairs (the building blocks of DNA) and represents approximately 2.5 percent of the total DNA in cells.

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 18 likely contains between 300 and 500 genes.

TRISOMY 18 FOUNDATION 

AWESOME SITE WITH LOTS OF INFORMATION!

WEBSITE LINK

About the Trisomy 18 Foundation

Message from the Founders:
The Trisomy 18 Foundation was started by Don and Victoria Miller after the loss of their son Isaac in 2001. They share their vision and purpose in the Welcome Message from the Founders.

WEB MD - TRISOMY 18 SYNDROME 

THIS SITE HAS SOME GREAT RESOURCES

THIS SITE HAS SOME GREAT RESOURCES AS WELL!

WEBSITE LINK

General Discussion:

Trisomy 18 syndrome is a rare chromosomal disorder in which all or a critical region of chromosome 18 appears three times (trisomy) rather than twice in cells of the body. In some cases, the chromosomal abnormality may be present in only a percentage of cells, whereas other cells contain the normal chromosomal pair (mosaicism).

Depending on the specific location of the duplicated (trisomic) portion of chromosome 18--as well as the percentage of cells containing the abnormality--symptoms and findings may be extremely variable from case to case. However, in many affected infants, such abnormalities may include growth deficiency, feeding and breathing difficulties, developmental delays, mental retardation, and, in affected males, undescended testes (cryptorchidism). Individuals with trisomy 18 syndrome may also have distinctive malformations of the head and facial (craniofacial) area, such as a prominent back portion of the head; low-set, malformed ears; an abnormally small jaw (micrognathia); a small mouth with an unusually narrow roof (palate); and an upturned nose. Affected infants may also have narrow eyelid folds (palpebral fissures), widely spaced eyes (ocular hypertelorism), and drooping of the upper eyelids (ptosis). Malformations of the hands and feet are also often present, including overlapped, flexed fingers; webbing of the second and third toes; and a deformity in which the heels are turned inward and the soles are flexed (clubfeet [talipes equinovarus]). Infants with trisomy 18 syndrome may also have a small pelvis with limited movements of the hips, a short breastbone (sternum), kidney malformations, and structural heart (cardiac) defects at birth (congenital). Such cardiac defects may include an abnormal opening in the partition dividing the lower chambers of the heart (ventricular septal defect) or persistence of the fetal opening between the two major arteries (aorta, pulmonary artery) emerging from the heart (patent ductus arteriosus). Congenital heart defects and respiratory difficulties may lead to potentially life-threatening complications during infancy or childhood.

A TRISOMY 18 JOURNEY - ABIGAIL GRACE WILSFORD 

IN CELEBRATION OF THE LIFE OF ABIGAIL GRACE WILSFORD

WEBSITE LINK

We found out Abigail had Trisomy 18 before she was born, and we knew that she was meant to be a special blessing to us. We finally got to meet her in person on August 27, 2002. She gave us 5 days of cherished memories with her, then she went to be with Jesus on September 1, 2002. She was held in our loving arms virtually all of her earthly life; now she is being held in Jesus' loving arms for eternity.

We have created this website to remember and honor Abigail Grace, who was and still is such a blessing to us. We also want to offer hope for anyone else who may have received a similar prenatal diagnosis, whether Trisomy 18 or another disorder that is "incompatible with life" - hope and strength for the path ahead.

We love you, Abigail.
Daddy and Mommy ~ Steve and Mindy
Brother and Sister ~ Nathan and Sarah

Visitor From Heaven
Played at Abigail's memorial service as background to a slide show of her pictures

A visitor from heaven
If only for awhile
A gift of love to be returned
We think of you and smile

A visitor from heaven
Accompanied by grace
Reminding of a better love
And of a better place

With aching hearts and empty arms
We send you with a name
It hurts so much to let you go
But we're so glad you came
We're so glad you came

A visitor from heaven
If only for a day
We thank Him for the time He gave
And now it's time to say
We trust you to the Father's love
And to His tender care
Held in the everlasting arms
And we're so glad you're there
We're so glad you're there

With breaking hearts and open hands
We send you with a name
It hurts so much to let you go
But we're so glad you came
We're so glad you came

TRISTAN ASHER HOSTETTER 

BLOGSPOT LINK

Tristan's verse:

John 11:4 - ... This sickness is not unto death, but for the glory of God, that the Son of God may be glorified thereby.