Escobar Syndrome: 2012

Tuesday, August 14, 2012

Saffy Family

Leonie was born on 6^th February 2002. The pregnancy was terrible, with an original diagnosis of heart failure and fetal hydrops, we were advised to terminate to ‘be kinder on her’ as she only had 24 hours to live. Thankfully we decided that if she was going to hang on, then so were we. After two amniocentesis tests (both of which came back normal) we were told she was getting a little stronger. She was delivered over full term at 42 weeks. All hell broke lose on delivery. She was in ICU for three weeks on oxygen and was diagnosed initially with Trisomy 18. We finally left the hospital with a final diagnosis of AMC of unknown origin. The first few years were a blur of hospitals, splint, casts, operations and Velcro….More Velcro than I had ever seen!

Fast forward 5 years and we had been given the all clear to add to our family. At my 20 week scan and could see those little twisted legs, hands and feet straight away. Again the first offer was a termination, but we had already decided that we had done it once, how hard could it be second time around! Aaliyah was born on 25^th August 2006, unlike her red headed sister; she had a mop of black hair. So from that day everything doubled…..double the appointments, casting, splinting, bracing, and surprisingly double the Velcro!

We finally got an official diagnosis of Escobar Syndrome in 2008. Jason and I are carriers and they have advised us not to have any more children.

Both girls are similarly affected. They have rocker bottom feet (CVT) neuromuscular scoliosis, restrictive lung disease, CHD, full body contractures, congenital deafness and reduced muscle tissue. As a result they are more susceptible to infection and fatigue quickly. There really are too many little extras to list.

Despite all the surgery, the physio, the hanging around for countless hours in waiting rooms and in recovery and the constant fighting for absolutely everything, I wouldn’t change them for the world.

Something people don’t realize when they see our Escobar kids is that they are special. Not just special in a regular sense, they are truly special. They have such amazing strength, they go through things that the majority of people couldn’t dream of, and they never complain. Something I have learned from my girls, and all the other members of our online Escobar family, is NEVER underestimate them or tell them they can’t do something. They will only delight in proving you wrong with a smile on their face!

Zara Griffiths (Leonie & Aaliyah’s mum)
z.griffiths740@btconnect.com

Coyle Family

Esmée was born on 14th may 2011, at 35 weeks by emergency c section at Broomfield hospital, Chelmsford, Essex. Uk. she was not breathing and we were told she wouldn't survive 24hours. She was ventilated for 10 days and we nearly lost her so many times. We spent 6 months in intensive care, the last 6 weeks of which were at Great Ormond street hospital, London. Where she had a diaphragm plication and was finally able to come home on oxygen with an NG feeding tube.

Esmée has beautiful red hair and big blue eyes and such a strong determined soul.
She was born with small underdeveloped lungs (this is her biggest problem, she requires constant oxygen and now at 10 months is back on nightly bi pap) she has arthroygriposis , clenched hands. Rocket bottom feet. She is small with a small webbed neck. She will require a gastro feeding tube because she struggles with her swallowing but she loves food so much, she will grab at anything to stuff in her mouth!! She is doing so well and her physical strength is amazing despite her problems. Physio has helped her so much it's been like watching a scrunched up ball open up.

The last 10 months have been a real emotional upheaval on our family and on Esmée's 3 older sisters, but her bubbly character keeps us all going. Finding this blog and the Escobar Facebook group has given me so much support and strength.

Please feel free to contact me: Beckie.239@btinternet.com
My blog: http://mum-tolittlee.blogspot.co.uk/2012/01/8-months-ago.html?spref=fb&m=1
Facebook: Beckie smith

Tuesday, February 14, 2012

Mitcheson Family

Holly Mitcheson
Born 5-18-01, full term, no indication of any problems until she was delivered. Holly had a diaphragmatic eventration at birth and due to that she had a trach placed at birth because of respiratory failure. It took 2 surgeries to correct it. Also she had a gtube placed due to failure to thrive. Holly spent the first 9 months of her life in NICU at Kosiars Childrens Hospital in Louisville, Ky.
At 4 years of age she had her trach and gtube removed and did awesome for 4yrs. In 2009 she started have breathing issues and was requiring oxygen 24/7. We found out her CO2 levels we extremely high. We tried CPAP and BIPAP machines with no success. Holly was retrached Feb 5th 2010. During that time she passed away 2 times and we almost lost her 3 other times. The 5 day stay in ICU we were told we would have ended up being a 15day stay. It was a very stressful time for us but now 2 years later she only has to use her vent when she sleeps.
For us the hardest and most stressful thing we have to deal with the breathing issues. All of the orthopedic stuff is something we live with daily and don't get me wrong, it can get very trying at times, but the fear of death from the lung issues brings us much more stress than the orthopedic side of Escobar.
Holly is seen now by the Aero-Digestive team at Cincinnati Childrens Hospital. Which is a team of doctors from all different specialties. Ex. ENT, pulmonologist, gastro, cardio, feeding/swallowing team, plastic surgeons and of course Orthopedic. Hollys next big surgery will be either spine surgery on VEPTR surgery. Which both will compromise her breathing for a bit after surgery but our hope is that post-op breathing will be alot better than it is now. Not that she will ever be able to be without her trach and vent...but hey, we can hope. She wasn't suppose to ever come home from the hospital when she was born, never should have been able to walk, talk, breathe, eat or do anything for herself but SHE DOES!! So we ALWAYS hold on to hope.
Come visit Hollys online journal at
http://www.caringbridge.org/visit/hollymitcheson
or email me at
momofmiraclebaby@yahoo.com

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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