Escobar Syndrome: 2010

Friday, October 1, 2010

Larson Family

Nicole was born 8-31-1995 and was diagnosed with Escobar syndrome after being a patient at Shriner's Hospital in Houston, TX. Nicole is such an amazing young lady. She has been through so much in her 15 years, but has never let any of it get in her way to do anything she sets her mind up to do. As Miley Cyrus says......It's the Climb! Check out her blogspot, find us on facebook, or email Terri at tlarson@bestcrate.com

The Larson Family (Mark, Terri, and Nicole)

Harrington Family

My name is Dee Dee and I am the mother of two boys aged 8 and 5. My oldest has Escobar Syndrome. When I was pregnant with Elijah we were told that he had Fetal hydrops and he was given a 5% chance of survival. The doctors were baffled as to what was causing his symptoms but during my labor they decided that he had lethal Pena Shokeir Syndrome and that he would not survive the birth. After he was born it was determined instead that he had Arthrogryposis. We were told not to expect much, that he would probably never walk. Boy has he proved those doctors wrong. He was eventually diagnosed up in Seattle to have Escobar Syndrome. He is eight now and entering the third grade. Not only does he walk, he likes to break dance, climb, and play the computer. He does wear hearing aids which we found out recently that he needed. He kept testing different each time and it was determined that the bones in his middle ear are not shaped right. He is now reading as of this year, doing math & keeping up pretty well since the use of hearing aids. If you would like to contact me, my email is dharrington6@msn.com

The Harrington Family

Wednesday, September 1, 2010

Langenstein Family

In February of 2006, my husband and I flew to Russia to adopt our beautiful little girl Maria Elizabeth, whom we call Masha in accordance with Russian custom. Masha had just turned four yrs old and was to be our fourth child -- our second by adoption. We had already met Masha, but the medical information we had been given by her orphanage was sketchy. We knew she was very small for her age, that she hadvery serious scoliosis, that many of her joints didn't move well, and that she a repaired cleft palate. It wasn't until we arrived home with Masha and saw a geneticist at St. Louis Children's Hospital that we were able to receive a diagnosis: Multiple Pterygium Syndrome, Escobar variant

Masha has had several surgeries and has been outfitted with several different titanium devices to straighten her spine & joints, most importantly VEPTR's to correct her scoliosis. We often joke that she is our bionic kid! Despite her physical challenges, however, Masha is a sweet, happy, fun loving child! She is eight and half years old now, and takes ballet, art, and piano lessons. She LOVES her schoolwork and studies hard. In her down time she draws, sings, and plays with her sisters. We wouldn't change a thing about her!

If you'd like to discuss Masha, adoption, VEPTR, Multiple Pterygium Syndrome (or anything else!) with me, feel free to contact me via Facebook or email: conventof6@yahoo.com

Sharee Langenstein

Rudder Family

We have 3 children......Collin-6 yrs old (born in 2004), Haley-4 yrs old (born in 2006), and Mason-2 yrs old (born in 2008). Like many others, we were initially told a diagnosis of Trisomy 18. Haley and Mason have since both been diagnosed with Escobar syndrome. When Haley was 10 months old we got a possible diagnosis from Dr. Hall in Seattle, WA and tests done in Oxford, England confirming Escobar when she was 1 1/2 yrs old. The exact results noted a single nucleotide insertion at position 392 in the gene (c. 392insA) per Oxford on Haley and homozygous duplication c. 459dupA per the clinical lab results in the USA for Mason. This was also confirmed in both my husband and I as carriers in Oxford.

Some ways that our children are affected by Escobar is vertical talus, scoliosis, camptodactyly (clenched fists), knee flexion contractures, eventration of the diaphragm, tethered spinal cords, submoucal cleft palate, and hip dislocations. Although skin webbing is a component of escobar, our children have very minimal webbing mainly in the neck and underarms.

Haley and Mason are both doing wonderfully, although it's been a long, hard road to get where we are today. They are happy, social, and determined to succeed. Haley does gymnastics and played her first season of t-ball this year. Mason is figuring out walking in his new Kidwalk and loving his independence. We are very happy to share with other families affected by Escobar and related syndromes. We love to meet new people and willing to help in anyway we can. To read more about Haley & Mason's journey you can visit their blog at http://www.rudderfamily.blogspot.com/ and if you would like to contact us you can email at SRRudder5@gmail.com

George & Suzanne Rudder

Tuesday, August 31, 2010

Oakley Family

Ryder Oakley is 2 years old, born May 16, 2008. He was just recently clinically diagnosed with Escobar Syndrome. He will not let anything stop him! We have been through the ringer and are more than willing to help or listen to anyone in need.

The Oakleys :)

Barham Family

Reece was born January 12, 2008. After an initial diagnosis of Trisomy 18, genetic testing results in July revewaled Reece has Multiple Pterygium Syndrome, Escobar variant. Reece's exact mutation is a homozygous duplication c. 459dupA. If you want to read more about Reece's journey, please take a look at his blog - www.beth-barham.blogspot.com or you can email me at beth.barham@gmail.com.

Beth

Collins Family

Hi there, we are the Collins family living in New Zealand. We have a 2 and a half year old, Ashling, who is our surviving twin with Escobar syndrome. Unfortunately, her sister Ciara passed away when I was 32 weeks pregnant. She had a lethal form of Escobar.

We now have another little girl, Jamie, who is 8 months old and is Escobar-free. The two girls get along brilliantly.

Ashling had a very lengthy stay at the hospital when she was born and has had a lot of medical requirements (oxygen, feeding tubes, gastrostomy, casting, etc) so we have been through a lot in the past few years. however, I'm very happy to report that she is now a very healthy little girl, who never stops talking!

If you would like to contact me at any stage, please feel free to email me on c_o_shea@hotmail.com and/or have a look at our blog for Ashling. www.ashlingcollins.blogspot.com

Take care,
Caroline

Sedey Family

Hi, we are the Sedeys and we have three children, Gavin (5), Owen and Caleb (5 month old twins). Owen was born with Multiple Pterygium Syndrome a.k.a. Escobar Syndrome. We have been working with a wonderful team of orthopedists, geneticist, pulmonologist, and therapists and Owen has been making much progress in his short 5 months. Please feel free to contact us if you have any questions. It's really been a life saver being able to talk to other parents and other people who have Escobar for support and advice. We can be reached at sara.sedey@gmail.com. Please feel free to read our blog as well to get a more detailed idea of what our journey has been like. http://sedey-family.blogspot.com

Thank you,
Sara

Monday, August 30, 2010

Under Construction - Created 8/30/2010

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Active Research

Escobar Syndrome Research Study
Prinicpal Investigator
Karen W. Gripp, M.D.
Division of Genetics,
Nemours/Alfred I duPont Hospital for Children, Wilmington DE
Phone: (302) 651-5916
Fax: (302) 651-5033
E-mail: kgripp@nemours.org

Our research study “Genotype influences on clinical outcomes in arthrogryposis with webbing – Escobar Syndrome” is recruiting new participants.
We are recruiting individuals with a clinical diagnosis of Escobar, arthrygryposis with webbing, or multiple pterygium syndrome, and their biological parents. The purpose of the study is to learn more about Escobar syndrome and to investigate its genetic cause.

If any families would like more information or would like to enroll in our study,
please contact Stacey Koletty, RN, our study coordinator at skoletty@nemours.org or 302-651-6548.

Additional study information may be found at
http://www.nemours.org/research/clinicaltrial.html

Raising Awareness

In an effort to raise awareness for research and funding for Escobar Syndrome, I ask you to join in a letter writing campaign. Ask all your family members and friends to take the time to write as well. One handwritten/mailed letter is equivalent to 60 email messages! Together, we can raise awareness and make a difference. Below is an example letter to your Senator that you can personalize and edit to address any branch of the legislature or organization you choose to contact.

Example Letter

What is Multiple Pterygium Syndrome - Escobar variant?

A rare condition manifested by orthopaedic and cranial anomalies. Characteristic features include short stature, craniofacial anomalies, joint contractures, verebral fusion anomalies, rocker-bottom feet (vertical talus), and pterygia (skin webbing) of the neck, elbows, fingers, knees, and genital areas. Abnormalities of the head usually consist of epicanthal microcephaly, skin folds, long philtrum, low-set ears, pointed and receding chin, ptosis, down-turned angles of the mouth, cleft lip and/or palate, and hemangiomas (red birthmark) of the forehead. Associated anomalies may include rib defects, scoliosis or lordosis, cryptorchism, hypoplastic labia majora. Abnormal ossicles (the three small bones in the ear) may lead to conductive hearing loss. Other skeletal anomalies include radial head and hip dislocations, club foot, and missing or underdeveloped kneecap.

Multiple Pterygium can be lethal, however, the non-lethal variant is known as Escobar Syndrome.

Causes

Multiple pterygium syndrome usually follows autosomal recessive inheritance but can also follow autosomal dominant inheritance. Some cases of multiple pterygium syndrome, Escobar type are caused by mutations in the CHRNG gene.

Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.

Recessive genetic disorders occur when an individual inherits the same abnormal gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy. The risk to have a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents and be genetically normal for that particular trait is 25%. The risk is the same for males and females.

All individuals carry 4-5 abnormal genes. Parents who are close relatives (consanguineous) have a higher chance than unrelated parents to both carry the same abnormal gene, which increases the risk to have children with a recessive genetic disorder.

Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy regardless of the sex of the resulting child.

Standard Therapies

Therapy is supportive and depends on the severity of the webbing and spinal abnormalities. Orthopedic specialists should be consulted once a diagnosis is made because scoliosis develops before age five in most patients. Affected individuals have an increased risk for developing pneumonia due to a small rib cage so respiratory infections should be treated promptly. Patients with multiple pterygium syndrome may benefit from plastic surgery in the areas of webbing. This must be done with extreme caution as there may be major nerves and blood vessels in the area that are too short to allow for full extension of the limbs. Plastic surgery may also be performed to improve fused fingers and correct the cleft palate when present. Physical therapy can be of benefit to help in preventing the joints from becoming fixed.

Drooping eyelids can interfere with vision so an ophthalmology specialist should be consulted. Hearing testing should be done because of an increased risk for conductive hearing loss.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com