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Angelman Syndrome, a Rare Genetic Disorder: My Family's Experience

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Brittany has UPD Angelman syndrome.

Brittany has UPD Angelman syndrome.

What Is Angelman Syndrome?

Angelman syndrome is not quite as rare as previously believed. 25 years ago, the number of people thought to have Angelman was one in 35,000. Now it's one in 20,000. Still rare—but not quite as much as had been thought in the past.

Angelman syndrome is a genetic disorder of the 15th chromosome and was discovered by Dr. Harry Angelman. Once known as "Happy Puppet Syndrome," the name was later changed to Angelman syndrome in honor of the good doctor and all he has done for children and adults with this rare disorder.

Even though this disorder is genetic, it is not hereditary. It is sometimes referred to as being a fluke. Due to the changes in the complexity of genetic testing and the improvements along the way, diagnoses are not only being made earlier but treatments and therapies are also being implemented sooner.

25 years ago, you were lucky to arrive at a diagnosis before the age of 10 or 12. In the last few years, however, the average age of diagnosis has become much younger, often around age two to four, and sometimes even younger.

The most typical features are blond hair, fair skin, and blue eyes, although some children have medium skin, dark hair, and dark eyes.

Indicators of Angelman Syndrome

  • Small head and the back of the head is flat.
  • Can have trouble finishing an 8-oz bottle as a baby.
  • Trouble feeding or failure to thrive.
  • Doesn't roll over, sit, or crawl at the expected ages.
  • Muscle dysplasia or severely tight muscles.
  • Not meeting language milestones.
  • Global delays in fine and gross motor skills.
  • 85% of children have seizures that begin around the age of 2-3.
  • Very friendly and excitable, laughing and waving hands around, sometimes at inappropriate times.
  • Some have issues with their eyes, like astigmatism. Some have more severe eye problems like strabismus. Some need surgery.
  • Those who learn how to walk have an uneven gait. Balance issues and usually bent at the knees.
  • Few are tested because of the facial features they have in common.
  • Some are thought to be able to understand better than they can communicate back.
  • Some have issues with their feet and need to see an orthopedic surgeon or have orthotics.
Johnathan has Angelman syndrome. Sometimes getting a photo is work.

Johnathan has Angelman syndrome. Sometimes getting a photo is work.

Testing for Angelman Syndrome

  • Parental DNA Pattern: Known as the Methylation test. This blood test screens for three of four known genetic mechanisms that cause Angelman syndrome.
  • FISH Test. Known as fluorescence, in situ hybridization. This test is done to look for missing chromosomes. A comparative genomic hybridization analysis, or (CGH) is also done. That shows what portions of the gene are missing.
  • UBE3A Sequencing test. This test looks for a gene mutation. If all other tests look normal, then the doctor may order this to test the maternal copy of the UBE3A gene. It shows if the gene is active but mutated.

Five Classifications of Angelman

  • UPD, uniparental disomy. This type is when a child gets two copies of the 15th chromosome from one parent but none from the other. Or it's turned off. In some cases, the mother can also have a balanced translocation, which is an even rarer form of the syndrome. They are only 3% of the children with Angelman.
  • Deletion Positive. 68% of cases. This type has spaces or gaps of missing info in the 15th chromosome. The amount of missing info can vary.
  • ICD, imprinting center defect. 6% of cases. Located in the q12 region that controls whether the Angelman gene is, turned off or on. Abnormalities in the imprinting center on the maternally derived chromosome 15 can cause Angelman syndrome in a small percentage of cases.
  • UBE3A. That is when there is a mutation in the gene, and it is very rare. It occurs when the maternal copy of the gene is active but mutated.
  • Clinical. This type is a diagnosis made by professionals when they meet all the criteria but the blood test is negative for the disorder.

Raising Awareness

This article is not meant to diagnose or treat Angelman. My goal is to bring awareness and inform people about a rare disorder that is so near and dear to my heart. The two children you see pictured here in this article are mine.

I have 29 years of experience with this disorder. I never dreamed there could be so many children with the same genetic disorder as my children. Not only has diagnosis changed, but support and treatment have increased substantially. I am still surprised when I come across medical professionals who have not heard of this condition. My intention is to raise awareness so families have the knowledge base they need to help talk to their doctors and other specialists. Information is power! There are many children who are found to be Angels because someone saw them in a public place and recognized them as likely having this disorder.

The Angelman Syndrome Society formed 25 years ago. They have been at the forefront of raising awareness and fundraising in a search for the cure. They have come a long way in those years. February 15th is National Angelman Day. Please join in and help us—help the kids.

Early diagnosis and treatment are essential to the progression of positive improvements and well-being of children with Angelman syndrome.

  • Anti-seizure meds for those with seizures. CBD oil has become a successful treatment for hard-to-control seizures.
  • Dietary changes, like the keto or LGIT diet. Supervised by a doctor. If you would like more info, please look up the AngelmanSyndrome Diet on Facebook. The page is run by Sybille, who is also an Angelman mom.
  • Speech therapy, along with sign language.
  • Behaviour therapy
  • Occupational therapy
  • Physical therapy for both fine and gross motor skills.
Brittany: Beautiful, happy, and very outgoing.

Brittany: Beautiful, happy, and very outgoing.

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My Children and UPD Angelman Syndrome

On a personal note, two of my three children have a rare form of this already-rare disorder. They have what is called uniparental disomy (UPD) with a balanced translocation, which occurs in fewer than 3% of children with this syndrome. There was a 50% chance of having another child with this type. We didn't know this at the time.

Life has been a roller-coaster ride; seeing the delays and not having answers, then finding out my son was in the 85% when he started having seizures. Now we had to add a seizure med to my son's therapy. My daughter doesn't have seizures, but she had a mini-stroke at age three, and now she has tremors.

We were lucky enough to receive early diagnoses through genetic testing at a children's hospital. After a consultation with a genetic specialist, we moved on and started therapy for both children. We had to massage my son's legs daily just to loosen up the muscles. He walked like a tin soldier but with his knees bent. He was three years and two months old before he walked. My daughter was two years and three months old before she walked. We had been told she would never walk. My reply to them was, "Just watch us. You don't know her or me, and we won't give up."

Then school started, and life as we knew it would never be the same. It seemed like all I did for more than ten years was take my children to appointments with doctors, specialists, and therapists. Early intervention therapy was one of the best things we ever did. Our children advanced in terms of their abilities, life skills, and fine and gross motor skills.

My life changed when the children started school and were given a teacher's aide, which provided one-on-one help to them. Sign language and speech therapy have improved their lives, too. They are still considered non-verbal because speech is not consistent. My daughter has about 110 words, and my son has around 60.

There have been many moments of joy and tears. I wouldn't change my life for anything. The joy my children bring to everyone is beyond description. I've learned more from being their mom than from all my life experiences put together. I am truly blessed.

Johnathan is happy most of the time. He is one of the 85% of Angels with seizures.

Johnathan is happy most of the time. He is one of the 85% of Angels with seizures.

The Love of an Angel

An angel's smile is infectious.

The excitement contagious.

Their love is endless.

With a connection that is boundless.

So when you meet an angel.

Know God is near and his children are dear.

Angelman Syndrome Foundation

For More Information

  • CASS, Canadian Angelman Association
  • Angelman Syndrome Foundation
  • UPD support group on Facebook
  • Mayo Clinic on Angelmans Syndrome
  • Angelman Seizure Group
  • The Ketogenic Diet on Facebook

This content is accurate and true to the best of the author’s knowledge and does not substitute for diagnosis, prognosis, treatment, prescription, and/or dietary advice from a licensed health professional. Drugs, supplements, and natural remedies may have dangerous side effects. If pregnant or nursing, consult with a qualified provider on an individual basis. Seek immediate help if you are experiencing a medical emergency.

© 2016 Terrie Lynn

Feel Free to Ask Questions.

Terrie Lynn (author) from Canada on February 22, 2017:

Thank you Bev. Your comment touches my heart. They really are beautiful, and Full of love

Bev G from Wales, UK on February 22, 2017:

I've never heard of this, but I recognise the disorder after reading your description. You are an inspiration and your children are so lucky to have you. I feel how much you love them - it leaps right off the page. So glad I read this.

Terrie Lynn (author) from Canada on February 18, 2017:

Thank you savvy. It used to be called happy puppet Syndrome. Then the name was changed, to Angelman after the man who discovered the problem in the 15 th chromosome. I never heard of that, I'll have to look it up. That is very kind.

savvydating on February 18, 2017:

Hi Terri Lynn....Is Angel syndrome the same as Dancing syndrome? My mother used to take care of a cute boy, Joshua, whose symptoms are very similar to those your children have.

An incredibly informative piece, by the way. I found it highly interesting. Thank you for sharing the beautiful pictures of your children! I know life must be a struggle for you. I have the deepest respect for parents who truly love and care for their children as you do.

Terrie Lynn (author) from Canada on February 17, 2017:

Thank you for reading it. It hasn't been easy and they've come a long way. I wouldn't change being their mother for anything.

John Hansen from Australia (Gondwana Land) on February 17, 2017:

Thank you for sharing your journey with your children and Angelman's syndrome, Terr Lynn. I had heard the name but knew nothing about it. Very informative.

Terrie Lynn (author) from Canada on December 17, 2016:

Thank you. It's taken a long time for me to be able to share.

FlourishAnyway from USA on December 17, 2016:

I hadn't heard of this so thank you for bringing awareness and sharing your family's story. The are beautiful children.

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