It was awful not knowing what the problem was - The Irish Times - Tue, Apr 26, 2011

It was awful not knowing what the problem was :

"THE LOWEST POINT of my life was the day I had to watch my baby daughter rolling around on the floor of the livingroom in pain and knowing that there was no point in picking up the phone because nobody would listen.

We had already been to the most eminent doctors in the country and they told us she wasn’t in pain, yet she so obviously was. We had no idea what we were dealing with and that was the worst part of the early years of her life.

Karen was born on August 19th, 1983, at Portiuncula Hospital, Ballinasloe, after a normal pregnancy. My late husband Paschal and I were thrilled that the baby was a girl, as we already had a boy of two-and-a-half called Mark.

As an infant, Karen had difficulty in feeding and keeping her bottle down. She began to suffer what we thought was colic, crying for three to five hours at a time during the night. This persisted until she was about nine months old. She refused solid food and, despite many visits to the local hospital for observation and investigation, no one could pinpoint what her problem was.

It was also apparent at this stage that Karen’s development was very slow. She was making no effort to walk and was not terribly interested in what was going on around her. Then, she developed a rectal prolapse. After the awful shock the first time it happened, I had to learn to cope with it. This was when the doctors told me it was not causing Karen any pain and that it would correct itself when she got older.

She was referred to Our Lady’s Hospital in Crumlin for investigation in November 1984. While there, she had surgery on two hernias. At this stage Karen was a year-and-a-half old. She had had such a hard time since she was born that we felt that we hardly had time to get to know her as an individual.

However, I did know one thing about her – she had a very loving smile and during the short periods when she was well, that loving personality shone through. There were many times when her little smile had saved her from my wrath at five o’clock in the morning!

Inaugural 5k helping families facing rare syndrome find support || OnlineAthens.com

Blueprint: Inaugural 5k helping families facing rare syndrome find support || OnlineAthens.com:

'We wanted to see if there are other families out there - and they just started to pop out of the woodwork,' Marisa Elrod said.

The Elrods have organized Northeast Georgia's first Race for Williams Syndrome 5K Trail Run and 1-mile Family Fun Walk to help more Georgia families affected by the syndrome find one another and share stories. They also want the general public to be able to find out more about the syndrome and the children it affects.

So far, close to 400 people have signed up for the 5K and family fun walk, which will be held at 2 p.m. Sunday at Crow's Lake on U.S. Highway 129 in Jefferson. Participants can register the day of the race, and the public is invited to attend.

'Really, this is for our own community, so people will know about Avery's condition - I have not met a single person in the general public who had heard of Williams,' Elrod said.

Family Raising Williams Syndrome Awareness

Sun Telegraph - Family Raising Williams Syndrome Awareness:

"PEETZ, Colo. – In many ways, Samantha Davenport is not unlike any other northeastern Colorado resident. She loves spending time with her friends, discussing her day with her family and volunteering at her local church in Peetz.

What sets the 23-year-old apart from all but an estimated 20,000 to 30,000 Americans is a rare genetic condition affecting 1 in 10,000 people worldwide.

Law cyclists raise over £22,000 for Williams Syndrome Foundation - Local Headlines - Lanark Gazette

Law cyclists raise over £22,000 for Williams Syndrome Foundation - Local Headlines - Lanark Gazette:

A sponsored cycle round the Isle of Cumbrae, involving over 60 women from Law last month, raised a staggering £22,000.

Event looks to help put disorder on the map

In 2009, the event raised about $6,000, and served as a template for future walks across the U.S. In 2010, the walk raised almost $12,000. This year's goal is $16,000.

"You want people to understand what it is," Ridgley said. "Maybe they know someone who has an undiagnosed child. I think kids are a lot more understanding and open to these kids that have disabilities when they learn about them."

It was immediately after Tatum was born that doctors noticed her heart was not pumping blood properly, and she had open heart surgery when she was 4 days old. She was diagnosed with supravalvular aortic stenosis, a common affliction of people with Williams syndrome. Tatum is now monitored regularly and visits experts at the University of Louisville with her family each year. She will eventually need her descending aorta replaced.

Another common condition of the disease is poor vision and strabismus, or crossed eyes. Tatum had surgery to correct her strabismus last year. She also suffers developmental delays, scoliosis, and mental and speech difficulties. Her parents hope that with the help of an aide she can attend regular public school, starting next year.

Disabilities differ in each person with Williams. Ridgley's friend and fellow event organizer, Erin Rupolo, said her daughter Sophie has exhibited different characteristics than Tatum.

"We don't know what her future will be like. We'll just have to be patient and see what happens," Rupolo said.

Sophie was diagnosed at 3 months.

"She had extreme colic, never smiled and was miserable," Rupolo said. "I kept going to the doctor, who said she just had colic and not to worry, but I knew something was wrong."

Finally, a developmental pediatrician ordered a series of tests, including a metabolic microarray, which identified genes missing from the seventh chromosome.

At almost 28 months, Sophie is in excellent health, and has only mild stenosis, according to Rupolo, but has the common facial features, such as puffy eyes, a broad nose and a pronounced mouth.

Last year, Sophie had surgery to correct her crossed eyes but still wears glasses. She also has low muscle tone and some developmental delays, but like Ridgley, Rupolo hopes to keep her daughter in public schools with aides to assist her.

Adults with Williams syndrome often live with their parents, and the adolescent years can be difficult. But Ridgley and Rupolo take their challenges in stride and support each other.

"Of all the things my daughter has, it could be a lot worse," Ridgley said.

Rupolo agreed. "They are wonderful individuals, and we will enjoy them and help them to be happy and self-reliant in any way we can."

Music Therapists Needed for WS Camp

The Williams Syndrome Association is searching for 1-2 MT-BC’s, and 3-6 music therapy students (any level) to work our 11th annual Music Therapy Camp for children ages 6-12 with Williams syndrome (WS). Our music therapy based camp at Indian Trails is designed to provide a variety of musical experiences for younger children with Williams Syndrome in a relaxed, natural setting. Children ages 6-12 participate in music therapy sessions that address non-musical goals, while enhancing existing musical abilities and interest. Parents will learn about the possible benefits of music therapy to their child’s development.

ParenThots - My special Williams Syndrome child

ParenThots - My special Williams Syndrome child:

"Malaysia now has its first “Child Development Centre” in Hospital Universiti Kebangsaan Malaysia (HUKM), Cheras, and it is equipped with specialists for special children. You may be flooded with lots of doctor's appointments initially but you will go with the flow once you see progressive milestones in your child's development.

We have limited support for Williams Syndrome in our country, and I think networking with other parents will also be a great source of support and encouragement to bring up a Williams Syndrome child."

Did God Create Williams Syndrome?

My friend Stacia pens a thoughtful article here.

Williams syndrome (along with all the various other genetic disorders) isn’t God’s fault. Genetic mutations (including spontaneous deletions on part of the seventh chromosome) are a now-natural result of no longer living in a “very good” world. So, did God create Williams syndrome in this sense? No—we, sinners in the hands of a holy God, are the responsible parties.

However, there’s something else that needs to be addressed, as well.

The Bible clearly teaches that God is the author of life—He forms each one of us and knits us together in utero (Psalm 139:13–16). The Bible also clearly teaches He is sovereign over His creation—He is the one who is in control—not a laissez-faire deity that wound up his creation and now lets it go as it pleases. (See, for example, Deuteronomy 3:24; 1 Chronicles 29:11–12; Jeremiah 1:5; Daniel 4:34–35; Nehemiah 9:6.)

Just as God is in control of the intricate workings of the universe, He is also in control of the intricate workings of conception. As such, I can’t escape the thought that we are who we are—genetic mutations and all—as the result of God’s handiwork. In this more individualized sense, God gave our son (and each one of us) a specific genetic combination, which in our son’s case, included a deletion of part of one of his chromosomes.