Cornelia de Lange Syndrome

[Ms. Kathy]

I've had several students--at least five-- over the years with this condition. This year a child who was on my consult caseload when she was in elementary school returned to my caseload as a high school student in the community-based class. I find my children with Cornelia de Lange Syndrome to be fascinating. One of the traits of this syndrome are moodiness and stubborness which can be a challenge. But for me, to watch the gears in action and to solve the puzzles is what I live for.

I also see a wicked little sense of humor in this particular child. When she was out of school with pneumonia, I missed her so much!

Other traits may include digestive problems, poor quality teeth, sometime partial sight, developmental delays, hearing loss, delayed speech or no speech, small stature, small eyes with long lashes, thick arched eyebrows, limb differences.
Below are some links to information concerning Cornelia deLange Syndrome:
Cornelia de Lange Sydrome USA Foundation-- www.cdlsusa.org/
EMed--http://www.emedicine.com/ped/topic482.htm
CdLS UK & Ireland--http://www.cdls.org.uk/
UC Davis Children's Hospital-- www.ucdmc.ucdavis.edu/children/services/cleft/health/anomalies/cornelia.html
LogikBase--http://www.logikbase.com/website/techprofile.cfm?licid=868
Texas School for the Blind and Visually Impaired: Education Protocol for Cornelia deLange Syndrome--http://www.tsbvi.edu/Outreach/seehear/winter00/cornelia.htm
NORD--http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Cornelia%20de%20Lange%20Syndrome
Family Village-- www.familyvillage.wisc.edu/lib_cdls.htm
Special Child Disorder Zone--http://www.specialchild.com/archives/dz-010.html
Cornelia de Lange Syndrome Australia, Inc.--www.cdlsaus.org/?page=faq


Here's a new blog web site started fall of 2007 at the birth of Baby Hope called Journey of Hope: Adventures with a very Small Child The link is journeyofhopekurth.blogspot.com/2008/04/her-own-course.html

Another is at A Day In My Life....: Blog Challenge: Angels Among Us.. mistymoosramblings.blogspot.com/2008/04/blog-challenge-angels-among-us.html


Hampton child's rare illness rallied family, community

Elizabeth Sarah "Lizzy" Frederic

By Jerry Vondas
TRIBUNE-REVIEW
Saturday, April 14, 2007


Danette and Randy Frederick never considered their daughter Lizzy's 13-year battle with Cornelia de Lange Syndrome to be a burden.
"Danette and Randy considered it a gift to be able to share their lives with their daughter," said Stacey Trap, Mrs. Frederick's sister.

Elizabeth Sarah "Lizzy" Frederick, of Hampton, died of kidney failure on Thursday, April 12, 2007, at the Forbes Hospice in Oakland. She was 13.

"They wanted Lizzy to improve not for themselves, but for her. They wanted her to be able to live a productive life," Trap said.


"Lizzy was Daddy's little girl," said Danette Frederick. "I always told him that his daughter has him wrapped around her little finger."

Elizabeth Frederick was born May 12, 1993. Doctors diagnosed her 4 months later with Cornelia de Lange Syndrome, a genetic disorder that left her with gastronomical problems and unable to eat or to speak.

"Although Lizzy couldn't speak, her eyes always told you what she wanted," said Elaine Fatla, Danette Frederick's other sister.

The disorder occurs in about one in every 10,000 births. It's been estimated that only 16 people in the Pittsburgh area have been diagnosed with the syndrome.

Besides the love that the parents had for their daughter, the support of family members, neighbors and the congregation of the Glenshaw Presbyterian Church in Shaler sustained them during their daughter's surgeries and hospitalization.

"Helping with Lizzy was a family affair," Trap said. "There was always a family member, especially Lizzy's brother Will and sister Claire, available when Danette and Randy needed things to be done around the house or be a baby sitter and be available when they took Lizzy for her doctor appointments."

"When we were going through these difficult times, the women of our church provided us with two hot meals every week," Mrs. Frederick said.

"And the women of our church made it possible for Lizzy and our daughter Claire to attend Logos, the after-school program at the church," she added.

Danette Frederick considered the time that her daughter spent at the Watson Institute in Sewickley as being in Lizzy's home away from home.

"Lizzy enjoyed the independence of being in the congenial atmosphere of the institute and having a staff of teachers and professionals that loved her and cared for her" she said.

In 2008, as they have been doing for the past seven years, a group of neighbors and friends will hold another round of "The Lizzy," a golf tournament to raise funds for the national Cornelia de Lange Syndrome Foundation.

"Randy and I and our children have gone through some most difficult times," Mrs. Frederick said. "But when you have the support, care and overwhelming love of so many people, it's difficult to despair."

Elizabeth Frederick is survived by her parents, Danette and W. Randall "Randy" Frederick; siblings, Claire, a third-grader at Central Elementary in Hampton, and Will, a senior at Shady Side Academy on Fox Chapel; and her grandparents, Sally and Dan Kotch, of Shaler, and Norma "GG" Frederick of Observatory Hill, North Side.

Visitation with the Frederick family will be from 2 to 4 and 7 to 9 p.m. today and Sunday at the Bock Funeral Home Ltd., 1500 Mt. Royal Blvd., Shaler.

A service to celebrate Lizzy will be at 11 a.m. Monday in Glenshaw Presbyterian Church, Glen Avenue.



Jerry Vondas can be reached at [e-mail] or [phone].

[Ms. Kathy]

[glow=red,2,300]Straight from the heart
Couple opens home to man with Cornelia de Lange, a rare birth defect[/glow]

Times Record News --Wichita Falls

Jeffrey Haderthauer/Times Record News

Mickey and Barbara Gaylean walk down a path near their rural Wichita County home with Jeremiah Caudillo, who has Cornelia de Lange Syndrome. Caudillo, who is 21, has the appearance of a 9-year-old because of the rare genetic disorder.

Straight from the heart
Couple opens home to man with Cornelia de Lange, a rare birth defect

By Michael Hines/Times Record News
April 29, 2007

Of all the things keeping Jeremiah Caudillo from enjoying life - his inability to speak, the chance of choking every time he eats, being 21 yet easily mistaken for a 9-year-old - a little thing like rain wasn't about to dampen his fun, if he had anything to say about it.

Caudillo has Cornelia de Lange Syndrome, a condition once considered rare. Researchers now believe the disorder occurs much more frequently than previously thought, and advocates want people to become more aware of that fact. Mickey and Barbara Galyean have joined the advocacy ranks.

"People look at Jeremiah, especially children, and I always try to smile and let them know 'It's OK. You're curious,' " Barbara said, explaining those are moments to teach people. "I try to put out as much information in the schools."

The Galyeans have taken Caudillo into their home. On a day like April 17, it was hard to keep him in the house.

As rain continued that morning, Caudillo grunted and shuffled from the patio and toward the downpour. He pulled on Barbara. His hunched stature made him seem like any other preteen dressed in khakis and a paper bag-colored Tony Hawk skateboarding T-shirt. But some differences were obvious.

His favorite foods include a mishmash of souffles, from carrot to pumpkin, partly because meat can easily choke him. When pulling wouldn't work, Caudillo at one point pinched Barbara to relay his displeasure at being kept indoors. Later, he erupted into a wail. Convinced he wouldn't be allowed outside, Caudillo began undressing as a sign he was ready to take a shower. Finally, Barbara took out a picture from a collection in a plastic container on her counter. The photos serve as reminders of the day's activities, and this picture showed Caudillo playing with toys. Thus prompted, he headed to his room.

The struggles to communicate and keep the 21-year-old on task can get frustrating, said Barbara.

But, her husband explained that Caudillo's determination to have his way is what's made him such a big part of their home and heart.

"He never gives up. If he wants to do something, if he sees something or wants to go outside, he will approach it from so many angles," said Mickey Galyean. "The little guy doesn't know anything but to keep going.

"Everything he does has to come from his heart."

The unique family arrangement was as much of a surprise to the Galyeans as anyone. Both admit that they're stumped as to exactly why they agreed to care for the young man for the next two years. That's when he becomes ineligible to go to school and will have to go into a group home.

What's not in doubt for them, though, is the importance of their work.

"The Lord is definitely in control here," Barbara said. "Sometimes in the midst when it can get tough and demanding, at no time have I ever thought this was not what I'm supposed to do."

In January, researchers at the Children's Hospital of Philadelphia announced the discovery of a gene that caused a milder form of CdLS. The form was so mild, in fact, that researchers concluded that physicians were probably misdiagnosing those with it as developmentally delayed or simply mentally retarded.

"It's not that CdLS happens more, it's that they're finding it more," said Marie Malloy, spokeswoman for the foundation.

It's now believed that 20,000 people have the disorder without knowing it, said Marie Malloy, spokeswoman for the CdLS-USA Foundation. The foundation serves about 2,300 families. There are 145 Texas families, with two in Wichita Falls. The Galyeans became one of those families in an unusual way.

Barbara, a former educator, and Mickey, principal of Kate Haynes Elementary School, already had one son who is now 40. While serving as an educational diagnostician in the Burkburnett Independent School District, Barbara came across Caudillo eight years ago.

Something impressed her, and she soon met his family. Barbara agreed to keep him overnight during weekends to provide some respite care. About four or five years ago, when Caudillo's father was transferred to an Air Force base in Virginia, the Galyeans visited and kept him at their home during the summer. Once his father retired this year, Caudillo's family was spreading across the country: a brother stayed in Virginia to finish school, another brother went into the Marines, his parents were going to Oregon.

"This was going to be such an upheaval for Jeremiah," Barbara said.

To counter the problems Caudillo would have endured, Barbara decided to bring the 21-year-old into her home.

"I said 'I'm going to bring a special-needs guy home.' My husband said 'OK,' " she said.

The decision came just three years after their last child had left the home.

"I wasn't sure what to expect," Mickey said.

Since bringing Caudillo into their home, the Galyeans have made many adjustments. Nights out are now out of the question, while schedules must be coordinated because it takes both guardians for any sort of trip. Caudillo still is not potty trained. He copes with a narrow esophagus as well as poor vision and hearing. Like many families dealing with the condition, the Wichita County couple faces many expenses.

"It's a new world for me," Barbara said, explaining the need to set up services such as Social Security as well as specialists for gastroesophageal reflux and eye problems.

And for all the work put into caring for him, the Galyeans know he likely won't recognize their efforts. That comes through just judging by his reaction to Barbara's chicken incubator. The plastic tub sits near the breakfast nook and has about a half dozen chicks clucking and chirping around under heat lamps.

"He could care less about them," she said. "He comes and looks in at them, but then that's it."

Regardless, though, the arrangement has been rewarding.

"We feel fortunate that we have a chance to maybe make a difference in his life," Barbara said. "This was so unique and unexpected. We didn't go out and say 'We have an empty nest, we need to fill it.' The way things happened, it just evolved. ... He's our life now."

Medical reporter Michael Hines can be reached at [phone] or by e-mail at HinesM(at)TimesRecordNews.com.

Background facts

Dutch pediatrician Cornelia de Lange first described the collection of features for the condition that would come to bear her name in 1933. Sometimes called Brachmann-de-Lange Syndrome, it affects about one in 10,000 births. Characteristics include low birth weight, slow growth and small stature, small head size. Facial features include thin eyebrows that can meet at the middle, short upturned nose and thin, down-turned lips, according to the CdLS-USA Foundation. Other frequent symptoms include excessive body hair, seizures, heart defects and developmental delay. A random mutation of genes causes the condition.

Source Link: Times Record News: Local News www.timesrecordnews.com/trn/local_news/article/0,1891,TRN_5784_5510981,00.html

[Ms. Kathy]

[This is from a mother's blog about her child with Cornelia de Lnage syndrome.]
Source Link: lisaleonard.blogspot.com/2007/05/chapter-three-time-in-nicu.html

It's the little things...: Chapter three, Time in the NICU

After I held David for a few moments, he was wisked off to the Neo-natal Intensive Care Unit. Steve and I had already decided that Steve should go and stay with David during his first hours of life. Steve followed the doctors and staff to the NICU, but quickly returned to me, saying he just couldn't deal with all the cords, exams, and medical staff. We were both completely overwhelmed.

I was transferred to postpartum and once I rested a bit, we headed over to see David. I think I was in a wheelchair, but I can't remember for sure. There he was, this tiny little thing, laying in an isolette. I so badly wanted to dress him up in one of the cute outfits we had bought for him and take him home with me. Why was this happening? What was I supposed to do with this little baby who had so many needs. I felt completely inadequate. Where was the blond haired, blue-eyed boy we had hoped for? The nurse asked if I wanted to hold him, so while she tried to keep the cords from becoming tangled, she gently placed him in my lap. The NICU is an awful place. There are tons of beeps and alarms that go off randomly and nobody even acknowledges them. There are hurting parents and small babies and staff who would rather sit and cross-stitch than hold a little one. At least, that's how I felt about our experience. There was a very sweet nurse on duty the first night who let one of our good friends sneak in and take some photos of David. Those photos we precious to me during our time apart the first few weeks and still capture the intensity of the first hours of David's life.

On the second day of David's life, we looked for neo-natalogist to talk with. We wanted to know if they had any information or answers for us. We literally felt like we were being avoided. Finally, we cornered a doctor and asked him if he could give us an update. He (in a thick accent) told us our son had Cornelia de Lange Syndrome and would be severely retarded. We pressed for more information. I don't remember his exact words, but he gave us the impression that David would be a vegetable and would never walk, talk, see or hear. We went back to my hospital room and sobbed. I remember thinking, both of us can't lose it. One of us has got to pull it together. But at moments like these, you can't pull yourself together, you just have to be in the middle of the muck and mess. I called my sister and asked her to look up the syndrome online and print out any information she could find.

Overall the NICU was a very frustrating experience. We were new parents and felt completely ignored and condescended. I overheard one nurse telling another that David had a heart defect. No one had informed us of this, and I was irrate! We frequently had staff telling us to put David back in his isolette and let him rest. They felt we were overstimulating him by cuddling and talking to him. We didn't know how much time we should be spending at the NICU each day. We wanted to be with David as much as possible but we were exhausted emotionally, plus, I had just given birth. Our friends, Tim and Susie had just had a NICU experience with their son (and Susie is a psychologist) and they gave us some great advice. They recommended holding, touching and talking to David as much as we could to help him bond. They encouraged not to take a backseat to the hospital staff. They reminded us that we were the PARENTS. We stopped being pushed around and came up with a plan. When we got to the NICU in the morning, we told the staff how long we planned on staying and what we intended to do with David (holding, changing, reading and feeding) during that time. We told them we wanted regular updates on any tests that were run and any new medical information that they had in his file.

During this crazy time, there were some real blessings. We had lots of friends and family come to visit David. His isolette was near the front window so we could show him off easily. We decided very early on not to try to hide his hand, but to make a point of showing people, talking about it and touching it. Our church family brought us delicious dinners every night and the highlight of everyday was checking the mail. Some days we would get as many as 20 cards from people who were thinking of us and praying for us. Many people we didn't even know reached out to let us know the cared.

After two weeks (which felt like two years) we were ready to take him home and get on with life, no matter what that might hold for us. They kept putting us off and telling us there was no hurry. They wanted to place a g-tube (for feeding) before he left the hospital and the surgeon wasn't available until the following Tuesday. That was over a week away! I asked for the surgeon's number and called him up myself. He agreed to preform the procedure a couple days later. Three days after that we packed David up in his carseat and ran for the door. I kept thinking they were going to change their minds and want to keep him for a few more days. I felt like I was kidnapping my own child.

Flash forward four years. This is David with the same Curious George. What a delight he is to us!

[To read more...go to her blog by using the source link above.]

[Ms. Kathy]

Thursday, May 10, 2007
United Way honors local leaders
The Cincinnati Post: news.cincypost.com/apps/pbcs.dll/article?AID=/20070510/NEWS01/705100368

By Peggy Kreimer
Post staff reporter

When Tracy Meehan's daughter was born with multiple disabilities, a United Way agency helped the family navigate what she calls "the whole new world of working with a child with special needs."

Meehan, of Franklin, now helps other families navigate that world as a job developer with Abilities First in Middletown. Last year she was a United Way campaign speaker, visiting groups and talking about United Way's impact on her life.

Meehan is one of 13 community leaders United Way honored today at its annual Leaders & Legends Luncheon at the Duke Energy Center in downtown Cincinnati.

It's called the New Century Awards program and recognizes leadership within United Way and community service through United Way agencies, workplace fund raising campaigns and other projects.

The honorees include corporate executives, parents, an attorney, an accountant, a sales director, and a performer, all sharing their talents and skills.

Sharing talents has been a way of life, said Col Owens of Covington, senior attorney with Legal Aid Society of Greater Cincinnati and another United Way award winner in the Improving Our Community category.

He is co-chair of the Ohio Family Coverage Coalition, which works to get health care coverage for low-income adults and children, and he serves on the Hamilton County Human Services Planning Committee, which works with county government to provide job training and placement programs and improve cash assistance programs.

"When I was 5 years old and in church, they said you should feed the hungry and take care of the sick. It sounded pretty good," Owens said.

"I think my religious beliefs have a lot to do with the endeavors and activities I undertake.

"Working for a better quality of life for all, especially for the poor, is part of our commitment as a member of a community. I believe working toward a more just society is the very best way to build community with people."

Meehan, who is being honored with a Community Service Award in the "Communicating Our Message" category, said sharing her knowledge and experiences at Abilities First and the United Way has become part of her life.

"I've learned so much, I now have information that can benefit other families," she said.

"My daughter, Morgan, was a 2-pound preemie. She has a rare condition called Cornelia de Lange syndrome. When she was born, they told us Morgan probably would never sit up, walk, talk, make eye contact. She'd be blind, deaf, mute, have heart problems, kidney problems and mental retardation.

"We started therapy when Morgan was 10 months old and weighed 5 pounds. She wasn't blind, wasn't deaf. She's started learning sign language. She sat at 2 and stood up unassisted at 4 and walked at 5. Physically, she's as healthy as a typical child. We got so much help from Abilities First."

Meehan is active in the Cornelia de Lange Foundation, which works to educate parents and physicians about the rare condition. Meehan said she learned the most from her daughter.

"Morgan is such a teacher, she's inspired me to be a teacher," Meehan said. "I know how important it was for me. I have to help other families."

Sharing information, talents and time is a common theme in the New Century Awards, many of which were named for people with that same commitment to giving.

[Ms. Kathy]

Area woman seeks to raise funds to fight syndrome
By KEVIN GOODWIN , The Saratogian
09/30/2007

BALLSTON SPA - A local woman and her team are going to head to Chicago next week to raise money for children with Cornelia de Lange Syndrome (CdLS).
Beth Smisloff has run the LaSalle Bank Chicago Marathon twice before. Her team, Team CdLS, wants to raise $50,000 for the national CdLS Foundation, based near Hartford, Conn. Smisloff's son, Will, was diagnosed with CdLS at birth.
CdLS is a genetic syndrome that occurs in about one in 10,000 births. There are an estimated 20,000 children in the United States with CdLS.
"It causes small stature and slow growth," Smisloff said. "Children grow slow physically and mentally."
She said her 16-year-old son is the size of a 6-year-old. With CdLS, comes a host of other medical difficulties.
Smisloff's team of 18 is among the 45,000 participants expected for the race.
Last year, Team CdLS raised about $40,000, which went to research and outreach to parents with children with CdLS.
"We will accept sponsors right to the day, or even after the race," Smisloff said.
The race is scheduled for Sunday, Oct. 7.
Smisloff said there are between 1 and 2 million spectators for the race.
"The spectators get you through the last few miles," she said.
The CdLS Foundation was founded in 1981 and is a family support organization that exists to ensure early and accurate diagnosis of CdLS.
Fore more information or to make a donation in support of Team CdLS, go to www.CdLSusa.org and search for Team CdLS.
Reach Kevin Goodwin at [e-mail] or 583-8729 ext. 215.





Source Link: The Saratogian www.saratogian.com/site/news.cfm?newsid=18870164&BRD=1169&PAG=461&dept_id=602469&rfi=6

[Ms. Kathy]

Life still same for radio plea mum, one year later
Source Link: www.independent.ie/todayspaper/national-news/life-still-same-for-radio-plea-mum-one-year-later-1238378.html

Catherine Finneran, her one-year-old daughter Cabrine and her son Keith, one year on from Budget 2007, at their home in Dromard, Co Sligo yesterday



By Anita Guidera
Wednesday December 05 2007


A mother who confronted Finance Minister Brian Cowen on national radio after last year's budget, has revealed that her son's needs are still not being met one year later.


Keith Finneran (20) suffers from the rare Cornelia-de-Lange syndrome, and requires 24-hour home care.

His mother Catherine, who appealed to Mr Cowen to help her son on RTE's 'Pat Kenny' radio show, told the Irish Independent yesterday that her family remains locked in conflict with the HSE over the provision of appropriate care for Keith.

After struggling with Keith's behaviour when various programmes did not work, she now believes that she -- and not the HSE -- would be best able to manage her son's needs.

However despite intervention from the minister and repeated requests, they have been unable to determine how much funding is being allocated to the HSE for Keith's care.

"All we want is direct access to the funding which has been allocated for my son so that his needs can be met in the best and most appropriate way," she said.

Mother-of-five Catherine gave birth to her first baby daughter Cabrina days after going public with her plight.

Statement

Speaking from her home in Dromard last night, she said that if anything, the family's financial circumstances have worsened since last year.

"I have had to give up full- time work and for the first time in our lives we received a bank statement which shows that we are in the red. How long can we go on like this?" she said.

She expressed concern that funding she discovered had been allocated to Keith for day care, intensive one-on-one and respite care, was not filtering down.

"The day service failed him two years ago and we have not received respite in two and a half years. The offer that had been made failed his need.

"The family want to purchase respite care in his own home. We want to access other services for him which we know will meet his needs. I will produce the programmes.

"I will engage with the professionals and I will be accountable," she said.

Through the HSE, Keith is currently in receipt of home support and is an employer but Catherine said that payment is in arrears and because he is an employer, PRSI is deducted.

At its own expense, the family has modified a room in the home to enable Keith to work on his photography and computer skills.

Job

Catherine also takes Keith to Sligo once a week for his "independence day" and is trying to find him a small part-time job to assist him in his journey towards independence.

"I am saying to the HSE, lodge the funding into Keith's account and let me deliver the service," said Catherine. Just yesterday, Catherine met with Junior Health Minister Dr Jimmy Devins in Sligo.

She said: "I asked him to accompany me for one day to see what it is like trying to be a mother, carer, worker, wife and family member."

Yet, despite all the setbacks, she is satisfied that her son is making progress.

"I feel proud a year on that my son has made wonderful progress despite the difficulties and we now have the gift of a beautiful girl which is bringing us all, including Keith, a lot of joy," she said.

- Anita Guidera

[Ms. Kathy]

Development of Diagnostics and Therapeutics for Cornelia de Lange Syndrome
posted by University of California System: University of California, Irvine
on 04/09/2008 in Diagnostic, Biomedical, Drug Discovery, Drug Screening, Gene Therapy, Genomics/Genetics, Proteomics


University of California, Irvine researchers have developed a mouse model of CdLS, based on heterozygous mutation of the NIPBL gene, and are using transcriptional profiling of mutant mice to identify those genes and gene products that are aberrantly regulated.


Suggested Uses:
The products of some of these genes, when measured in biological fluids such as blood, urine or amniotic fluid, are likely to provide excellent markers for diagnosis of CdLS, as well as for grading severity. These markers may also be employed as therapeutic targets, and as biomarkers for use in the evaluation of potential therapies for CdLS.
This technology is available for licensing, research sponsorship, and/or collaborative research projects.

Advantages:
The product of the NIPBL gene is a global regulator of DNA interactions that control the expression of many classes of genes. It is believed that the abnormalities of CdLS arise because levels and sites of expression of many genes change when NIPBL levels are low. University of California, Irvine researchers have developed a mouse model of CdLS, based on heterozygous mutation of the NIPBL gene, and are using transcriptional profiling of mutant mice to identify those genes and gene products that are aberrantly regulated.


ADDITIONAL INFORMATION
File Number:

2006-168


Detailed Description:

Cornelia de Lange Syndrome (CdLS) is a moderately common multisystem birth defects disorder that poses severe medical and social challenges for affected children and their families. Diagnosis of Cornelia de Lange Syndrome (CdLS) is based on clinical signs, including abnormal upper limbs, characteristic facial features, cardiac defects, cognitive retardation, and hearing loss. The syndrome varies widely in severity, and mildly affected cases may be difficult to diagnose. As many as half of all CdLS may fall into this latter category. In addition, there is currently no procedure available for the prenatal diagnosis of CdLS
CdLS was recently shown to be caused by mutations in a single copy of the NIPBL gene, The vast majority are new mutations in the children of normal parents, and such mutations have been found at locations throughout the very large NIPBL transcript (~9.8 kb). In addition, mutations in non-protein-coding parts of the NIPBL gene are thought to account for about half of CdLS cases. Because a very large amount of DNA needs to be screened to find the mutation in every new case of CdLS, direct mutation screening is likely to be impractical as a diagnostic approach for this syndrome, except in those cases where clinical suspicion is already very high. Thus, there remains a significant need for rapid, inexpensive diagnostic aids for both pre- and postnatal diagnosis of this syndrome.


Web site:

www.ota.uci.edu/www_uci_ncds/mktable_ncd...

Source Link: www.ibridgenetwork.org/UCI/development-of-diagnostics-and-therapeutics-for-cornelia-de-l

[Ms. Kathy]

When Madeleine Witham's daughter Ella was born, the Obstetrician said, "I think we have a problem here."
Source Link: www.abc.net.au/local/stories/2008/04/22/2224305.htm

Ella was a very small baby, she had a cleft palate and was a fully extended, undiagnosed breach birth. Nine months later, geneticists diagnosed Ella with Cornelia de Lange Syndrome

The source of the syndrome has been linked to the random mutation of a gene on chromosome 5 and it is associated with a number of intellectual disabilities and physical changes in young children.

Madeleine told 702 ABC Sydney's Deborah Cameron, Ella shares the physical characteristics of other children with the syndrome. These include heavy eyebrows that join at the middle, a little upturned nose and very long eyelashes.

"I remember very early on when they were trying to diagnose Ella, a nurse said to me 'Oh yes, she's got very long eyelashes, I've heard that could be a syndrome.' And I thought that was the most ridiculous statement I'd ever heard. But Ella does have very long beautiful eyelashes"

Cornelia de Lange Syndrome has been difficult for Ella and her family. Her parents were told that she would never talk, may never walk and would not live into adulthood.

Ella is now 13 years old, Madeleine says she talks non-stop, she's able to walk and attends a special school. The next priority will be guiding Ella into adulthood and all the challenges that will bring.

To find out more about Ella's story, visit www.love-ella.com

[Ms. Kathy]

I used to have a link to Baylee's site on my old web address. Here's her mom's blog spot about her latest adventures.
cdls.wordpress.com/2009/01/31/cdls-blog-challenge/

[Ms. Kathy]

Here are two intersting blog sites from/for parents of children with CdLS

CdLS Blog Challenge - Home Modifications/Child Proofing « Life ...
By Sandi
Ramblings on raising a child with Cornelia de Lange Syndrome. A Bit About Jess. Posted by: Sandi | February 3, 2009. CdLS Blog Challenge - Home Modifications/Child Proofing. What kind of jerry-rigging or child-proofing have you done at ...
Life with Jessica - cdlsva.wordpress.com/

A Day In My Life....: Things Mason Has Learned...
By Misty
Now, at 30, I am begining the next chapter of motherhood with my newest addition, Mason. He was born on Nov. 2, 2007 with Cornelia de Lange Syndrome (and many associated anomalies including Congenital Diaphragmatic Hernia). ...
A Day In My Life.... - mistymoosramblings.blogspot.com/

[Ms. Kathy]

Saint Francis Hospital ER Gets $1.5M Hoffman Grant

The Cornelia de Lange Syndrome Foundation (CdLS) of Avon received a $5,000 grant for its CdLS Multidisciplinary Clinic for Adolescents and Adults from the Quest Diagnostics Foundation of Quest Diagnostics Inc., a provider of diagnostic testing, information and services. The CdLS Foundation will use funds from the annual Jeanne Serocke Grant to provide additional services and diagnostic tests, such as echocardiograms, that have been cost-prohibitive at its clinic.

Source Link: www.hartfordbusiness.com/news7860.html

[Ms. Kathy]

Idaho trip ahead for Special Olympian
Source Link: Prince George Citizen: www.princegeorgecitizen.com/20090127172206/sports/sports/idaho-trip-ahead-for-special-olympian.html
Written by TED CLARKE
Citizen staff
Tuesday, 27 January 2009


Her coach tells her she needs to work on putting on a friendly smile for the judges. Darlene Jakubowski isn’t too worried about that. She’ll be positively beaming if she skates to the best of her ability at the Special Olympics World Winter Games, Feb. 7-13 in Boise, Idaho.

She’s one of three B.C. athletes on the 15-member Canadian figure skating team, and Darlene is shooting for the stars.

“I want gold,”said Darlene.
Aside from the competition, the 16-year-old from Fort St. John is looking forward to meeting new friends from all over the world and swapping pins with the other athletes.

“I’ve got 250 pins already,” she said. “I’ve got some from Prince George to trade, and I’ll be taking some 2010 Olympic pins.”
Although she lives in Fort St. John, she’s been training the past five years in Prince George with Prince George Figure Skating Club coach Alison Aikins. Aikins said the most notable improvement in Darlene’s skating over last year is the speed at which she covers the ice, and her improved flexibility is adding height to her jumps.

“She’s improved immensely in the last two years,” said Aikins. “Her dances are coming along quite nicely and she’s working on her axel for next year. She never gets dizzy. Out of all my skaters, I can have her spin forever, while most of them get dizzy.”

It’s a five-hour trek from Fort St. John on dry roads and that trip is often treacherous in the winter, but her mother Leona and father Steve know it’s helped their daughter emerge as a national champion. She won two gold medals in the Level 4 category last year at the Special Olympics National Games in Quebec City.

“Alison pushes me hard,” said Darlene, now in her eighth year of skating. “Now I get to go to the world games for the first time and it’s a different thing for me. There have been a few Canadians there (at the World Winter Games) who have won gold in figure skating.”

Darlene was born with Cornelia de Lange syndrome, a rare genetic disorder that results in delayed physical development before and after birth. It can lead to smaller head size, malformation of the arms and hands, and mild to severe mental retardation.

Darlene had very little use of her legs in the first few years of her life and her parents were required to constantly move her limbs, which helped form the connections with her brain that she now uses to walk, run and skate.

“When she was born they said she’d never walk, and then they said she’d never skate, and she does both well,” said Leona.
Skating crossovers on the ice as often as she does has helped rewire some of the connections to Darlene’s brain to enhance her co-ordination. She trains weekly with a physiotherapist and her daily stretching exercises at home and at school have improved Darlene’s quality of life, and people are noticing. At a recent national team training camp she was rated the best-conditioned athlete among the figure skaters.

Jenn Harcourt, Darlene’s coach with the Mile 0 Figure Skating Club in Dawson Creek, thought Darlene was ready to advance to the more difficult Level 5 category last July, after attending a five-day training camp in Toronto. The World Games figure skating events start Feb. 8.

As part of her Special Olympics national team commitment, Darlene has to maintain a log of her exercise time, what she eats and her skating time. She’s also required to compete in at least one other sport and chose gymnastics, which she did until she hurt her foot in November. While she’s more into swimming, dancing and horseback riding, her gymnastics experience helped teach her the value of stretching, and she’s seeing the benefits in skating practice. Her father is giving her $5 for every five Lutzes she lands successfully, and jokingly says he’ll take back $1 for every bad Lutz touchdown. So far, she’s $30 ahead of the game.
“She worked hard for this and it’s her time to shine,” said Steve. “She’s a very hard worker and skating has helped her mentally and physically. She’s been socially accepted in places where she wouldn’t be before.”

--- Marinka Van Hage of Prince George has also qualified for the Games in snowshoeing.