Hello again

Hello again

Monday, March 3, 2008

A Diagnosis for Ashling....finally!

Just wanted to let you all know that Ger and I got news during the week about Ashling. They have finally been able to diagnose Ashling’s syndrome. It will take a few minutes to read this, so make a cup of tea and relax or read it later when you have time.

Ashling has something called Escobar syndrome (also known as Multiple Pterygium Syndrome), which is a very rare disorder. In fact, there are only between 50 and 100 cases in literature, as it was only discovered a few years ago. The genetics team had mentioned this syndrome to us before but they weren’t sure as they have never actually seen a case of it, just read case studies. They sent Ashling’s DNA to Germany for testing and we have been waiting for a result for the past few months.

The main cause of Escobars Syndrome is an auto-recessive gene, which comes from both parents, so both of us are carriers. Apparently we are all carriers of about 7 potential recessive genes like this, but it is extremely rare that 2 people meet and have the same recessive gene. The chances of this happening are about 1:40,000!!!(Unless you’re related…which we’ve been asked many times!!!). But this means that one of both of our sets of parents is also a carrier and there’s a 25% chance that all of our siblings carry it (that’s you guys). But obviously the chance of you meeting or having met someone else who has it is the same, 1:40,000!

The general prognosis for Escobars is quite good. The way it affects the baby happens in the womb because the baby doesn’t develop a receptor which tells the limbs to move. That’s why both Ashling and Ciara were so quiet in the womb. Then in week 32 of the pregnancy, babies develop adult receptors and these take over. That’s why I felt more movement towards the end of the pregnancy and consequently felt that the Dr’s worries about Ash, were wrong.

The syndrome affects the baby in a physical manner but doesn’t affect the intellect. The features of Escobars are wide-ranging and its severity can range from mild to severe. Thankfully, the genetics team believes that Ashling falls on the mild end of the spectrum, and should have a relatively normal life, though “she’ll never be an Olympian”, according to the Doctors. But only time will tell as Granddad O’ Shea is still looking for a champion javelin thrower!
What it means for us is that we have a name for her syndrome, which means something I suppose. It also gives us a little bit of a guideline regarding any potential problems that she could develop and that we have to watch out for. It also means that we will have some options if we try to have another child, as we could be screened to avoid this happening again. There is a 25% chance of this happening again so we will have to get some fertility counseling, when the time is right.

Anyway, back to our gorgeous little girl…we are quite pleased to have a diagnosis but are a bit shocked all the same. Even though life is full of the unexpected – we never expect these things to happen to us, eh!

I’m sorry that we’ve put this on the blog and not getting to tell you personally. When we see or speak with you, we’ll explain it all better and answer any questions you might have. If you want to know more about Escobars, there’s some information on the internet. However, I can safely tell you from experience that most of it doesn’t really relate to Ashling as it describes more severe cases. We wrote away to the National Organization of Rare Diseases and paid to get a formal description of it. I am adding that description for you below as it will be a more objective reference for you to read (that is for those of you who might want to read more about it). If we get more information from the genetics team, we will post it on here too.

Thanks for taking the interest in reading this.

Love to you all,
Caroline, Ger and Ashling xxxxx

Synonyms of Multiple Pterygium Syndrome:
Escobar Syndrome
multiple pterygium syndrome
pterygium colli syndrome
pterygium universale

General Discussion: Multiple pterygium syndrome is a very rare genetic disorder characterized by minor facial anomalies, short stature, vertebral defects, multiple joints in a fixed position (contractures) and webbing (pterygia) of the neck, inside bend of the elbows, back of the knees, armpits and fingers. Multiple pterygium syndrome usually follows autosomal recessive inheritance but can also follow autosomal dominant inheritance.

Symptoms: Multiple pterygium syndrome is a very rare disorder characterized by permanently bent fingers (camptodactyly), short stature, rocker-bottom or club feet, joints that are bent in a fixed position (contractures), union or webbing of the skin between the fingers (syndactyly), and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits. The webbing of skin and contractures of the joints that are found in this disorder may restrict movement.Characteristic facial features can include a small jaw (micrognathia), a long vertical groove in the middle of the upper lip (philtrum), down-slanting eyes, a vertical fold of skin over the inner corner of the eye (epicanthal folds), drooping eyelids, low-set ears, cleft palate and down-turned corners of the mouth. Backward and lateral curvature of the spine (kyphoscoliosis) and spinal fusion abnormalities occur often in multiple pterygium syndrome. Other skeletal anomalies include rib fusions, hip dislocation, abnormal ear bones and absent or malformed kneecaps.Males may have undescended testes and an abnormally small penis. Females may have underdeveloped or missing labia majora..

Causes: Multiple pterygium syndrome usually follows autosomal recessive inheritance but can also follow autosomal dominant inheritance.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..Affected

Populations: Multiple pterygium syndrome is a very rare genetic disorder that affects males and females equally. There have been approximately fifty cases of this disorder reported in the medical literature. Multiple pterygium syndrome has been found in Germany, France and England.

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. Genetic counseling may be of benefit for patients and their families.

Report last updated: 2004-06-15

3 comments:

  1. My name is Beth, and I just came across your blog and am amazed. My son Reece was born Jan. 12 of this year and has been diagnosed with Escobar syndrome. I have been searching desperately for information on the internet. I would love to keep in touch with you and Ashling if you would like. At this point I am absolutely terrified and would love someone to talk to about all of this.

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  2. I just realized that I did not leave any contact information. My email address is beth.barham@gmail.com

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  3. Hi ~ I was searching blogs for people w/ Escobar and came across yours......I have two children with the same syndrome, Haley is 2 and Mason is 6 months. I have found it very difficult to connect w/ families of the same syndrome, but belong to a support group for AMC in general (www.amcsupport.org). I would love to talk w/ you. My e-mail is srudder@uniteone.net - my blogspot is http://rudderfamily.blogspot.com

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