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

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

Perry Family

Aaron was born on 19-05-2008 by planned c-section. Doctors had been monitoring Aaron carefully since our 20 week scan showed he had bilateral clubbed feet. The Doctors were pretty sure something else was wrong but did not know what it was, they were worried he was not moving very much and decided they would deliver 2 weeks early.

When Aaron was born he had bilateral clubbed feet and both hands were fisted leaving him with tight contractures in his fingers. He had torticollis in his neck and his legs did not fully straighten. His feet are also rocker bottom. He has a short webbed neck, micrognathia, small airways and obstructive sleep apnea. He is short in stature. We are still awaiting a confirmed diagnosis but Doctors believe escobars. All tests so far have come back normal.

He has had 2 surgeries, tenotomies on both feet and a bilateral inguinal hernia/testes release.

He is such a happy little man. Always on the go and is unbelievably determined. He is fiercely independent and will have a go at anything. He takes everything in his stride and is just our little inspiration! A very strong willed individual.

Feel free to contact me at kath.perry@hotmail.co.uk

Biggs Family

Biggs Family
Columbia, MD
Jackson was born on October 10, 2001. On October 11, 2001, we had a team of doctors in our hospital room picking Jackson apart, looking for markers that would identify a syndrome that could explain Jackson’s uniqueness. He was born in a ball, right arm and left leg tightly tucked into his belly. He was born with complete cleft palette, contractures in his neck, fingers, elbows, and knees. He also had rocker bottom feet. However, the feet somehow self corrected. A blood test confirmed that he had trisomy 21. They did a skin biopsy and didn’t find it there. Eventually, his blood replaced itself and the trisomy 21 disappeared. By Jackson’s first birthday, he developed scoliosis. Each visit, the scoliosis progressed more severely. His first set of rods was for the lower lumbar region of his spin. In 2007, Dr. Sponseller (Johns Hopkins) put in growing rods. Our little ball of energy has snapped the rods twice. He is getting a new set put in on January 12, 2011. We are hoping that these last longer. Jackson also has plates in both knees that help straighten his knees as he grows.

Jackson is a very positive person, an inspiration to many. He embraces life and lets nothing get in his way.

Please feel free to email me to chat about our little darlings.
shanleebiggs@gmail.com
Shannon, John, and Jackson Biggs

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

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

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

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