A kiss from their sister: A family’s journey with cleft lip care

Published by: Boston Children’s Hospital
Written by: Katie Paradis

Kelly and Ben’s experience with cleft lip care at Boston Children’s Hospital spans multiple years and multiple children.

Two of their daughters, Molly and Annie — five years apart in age — were born with an incomplete unilateral cleft lip. The couple won’t shy from admitting that receiving the diagnosis doesn’t get easier.

“It’s a roller coaster of emotions,” Ben says.

cleft lip or palate is the most common congenital craniofacial difference in the world. Yet, in the United States, the odds of having a child born with a cleft lip (without a cleft palate present) are about 1 in 2,800.

“I just couldn’t believe we fell into that small percentage,” Kelly says.

cleft lip is a visible separation in the skin of the top lip. The space can be small or it can be a significant opening that extends from the base of the nose to the top jaw and gums.

.Kelly and Ben had lost their first child, Lucy, at birth in 2014. Therefore, as a precautionary measure, Kelly’s pregnancy with Annie in 2015 was closely monitored by her maternal-fetal medicine team. Despite extensive prenatal care that included multiple ultrasounds, Annie’s cleft was not detected before her birth.

“After losing Lucy, we were anxious throughout the pregnancy with Annie,” says Ben. “And then we were hit with the surprise of her cleft lip when she was born. Click here to read of the rest of the story.

For Caregivers of Dravet Patients, Emotional and Financial Impact High, Study Reports

Published by: Dravet Syndrome News
Written by: Iqra Mumal

Families caring for patients with Dravet syndrome experience significant emotional, social, and financial impact, according to a multinational study.

This study also found that directs costs from non-seizure-related healthcare use are four times higher than costs directly linked to seizures. High seizure burden was associated with higher healthcare costs as well.

The study, “Caregiver impact and health service use in high and low severity Dravet syndrome: A multinational cohort study,” was published in Seizure: European Journal of Epilepsy.

Symptoms of Dravet syndrome typically appear in the first year of a child’s life. Along with epilepsy, it is associated with a range of developmental and cognitive issues, behavioral disorders, and mobility problems.

While the impact of Dravet on families has not been widely studied, a recent survey has reported that caregivers of Dravet patients contend with a variety of concerns other than seizures, such as the disease’s impact on siblings and issues related to patients’ cognitive impairment.

In 2016, researchers conducted a large multinational online survey called the DS caregiver survey (DISCUSS), which was designed to further understand the clinical, economic, and humanistic burden of Dravet syndrome.

The survey included 584 caregivers of Dravet patients (83% pediatric; 17% adult), of whom more than 90% lived in Europe. The patients’ quality of life was very low, and Dravet patients who had a high seizure frequency had more coexisting conditions reported more emergency treatments, and had a lower quality of life than those who experienced fewer seizures.

To further investigate the financial factors associated with Dravet syndrome, researchers used data from the DISCUSS study to estimate the mean annual direct costs per patient for seizure-related and non-seizure-related healthcare and caregiver out-of-pocket costs in five European countries including France, Germany, Italy, Spain and the U.K.

The annual direct per patient cost for Dravet in these five countries was $15,885 ($9,783 when excluding anti-epileptic medications). This figure consists of $7,957 for treatment of seizure-related symptoms ($1,854 when excluding anti-epileptic therapies) and $7,929 for treatment of non-seizure-related symptoms.

Drivers of total direct costs were anti-epileptic drugs (38%) and non-seizure-related therapies (50%). When researchers excluded costs associated with anti-epileptic drugs, treatment for non-seizure-related symptoms contributed to 81% of direct healthcare costs. As a comparison, in a general pediatric population with epilepsy, treatments for non-seizure-related symptoms make up only 9.1% of total direct costs.

These treatments included physiotherapy, speech and behavioral therapy, and therapies for learning difficulties,  autism/autistic-like symptoms, and attention deficit disorder.

Among these, physiotherapy and speech therapy made up most (79%) of the non-seizure-related costs. Click here to read the rest of the story.

Williams Syndrome Factsheet

 

Download Here: Williams Syndrome Factsheet

National Barrier Awareness Day

National Barrier Awareness Day brings awareness to dissolving stigma’s that keep people with disabilities from advancing in education, barriers in physical access, bridging technology gaps and any type of barriers that prevent people with disabilities to reach their full potential. While there have been many achievements, financial, cultural education and physical barriers still exist.

The History of National Barrier Awareness Day

On May 7 1986, President Ronald Reagan signed Proclamation 5472 as National Barrier Awareness Day.  President Reagan stated that “Eighty percent of Americans will experience some disability in their lifetime that makes it necessary they must surmount and the contributions that they can make to our society.”

Ways to Remove Barriers

While there are still physical barriers that exists, there is very few information on the mental barriers, meaning people that still hold misconceptions, stereotypes and myths regarding individuals with disabilities. what do I mean by mental barriers?

  1. people that are unaware that most disabilities are invisible. Someone parking in a handicapped space might not have a physical disabilities, but could suffer from a debilitating pain. There are also people with cognitive disabilities including, AutismADHD, and Dyslexia.
  2. As professionals, myths, and misconceptions continue when we as professionals stop learning and growing. Disabilities change overtime and as professionals and educators it is important to always learn and grow. For examples, very little was known about autism 25 years ago and more so when it comes to co-occurring disorders such as sensory processing disorder (SPD) and Dysgraphia.
  3. It is time to see the abilities not the disabilities in the person. By focusing on the disabilities, we limit the growth and development which leads to self-confidence to those with disabilities.

Finally, we all have to take the role of advocates. It comes as part of the job. Sometimes it is advocating for both parent and child and using our voice to help others live quality lives.

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Don’t leave employees with dyspraxia out in the cold

Published by: Real Business Company
Written by: Annie May Noonan

he fact that a dyspraxia sufferer isn’t easy to define makes the job of being understood and supported difficult for those with the condition – and I would know.

I was diagnosed with dyspraxia and dyscalculia at the age of eight after my physical balance and concentration levels suddenly, and very rapidly, deteriorated.

From the outside, I made the transition from my junior to ‘senior’ school as an atypical student, able to play sport and complete both writing tasks and times-tables well. My inability to dress or pack my school bag myself didn’t seem like a big issue until I suddenly could no longer retain my balance and started walking into doors, and falling down flights of stairs. I also developed problems writing and was unable to sit on a chair properly.

After my dual diagnosis, my frustrations around the difficulties I was experiencing lessened. I felt a sense of calm and clarity in the fact I had a condition, and could now learn strategies to make living with it less stressful. After seeing an occupational therapist for a year, I was able to manage my condition, however, my dyspraxia hasn’t gone away. Click here to read the rest of the story/