#sturge-weber

[the-groggy-froggy]

It fucking sucks not having anyone to talk to about my condition because there’s literally no community on this website

[enzaime-blog]

Running for a Cure

New Story has been published on https://enzaime.com/running-for-a-cure/

Running for a Cure

For the past 10 years, Al DeCesaris has dedicated tremendous time and effort to fighting Sturge-Weber syndrome, a rare and devastating neurological disorder that afflicts his young niece Jenna. Through charitable events, athletic endeavors, and his “For A Cure” books, he has created considerable awareness about the disorder and helped raise significant funds to further efforts to find a cure.

Not long after Jenna’s birth, Al recognized the need to raise funds for research for Sturge-Weber syndrome as federal funding for rare pediatric diseases is extremely low. He and his family organized a concert and auction fundraiser called Bands on the Bay and the event has raised more than $1,000,000 for the Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute and helped fund research that led to the discovery of the cause of Sturge-Weber syndrome.

Even with the success of Bands on the Bay, Al couldn’t help but think that there was more they could do to further the efforts to find a cure. More he could do.

Al DeCeSaris BookIn 2013, Al set out on a solo cross-country bicycle journey in honor of Jenna. Despite great adversity, he biked more than 3,000 miles from California to Maryland. Through his Crossing America For A Cure bike ride, he created awareness about Sturge-Weber syndrome across the country and raised critical funds for medical research.

In 2014, Al tackled another challenging endeavor, this time on foot. Running close to a marathon a day for three consecutive months, he logged 1,935 miles as he made his way from Maine to Florida. Through his Running The Coast For A Cure charity run, he created awareness about Sturge-Weber Syndrome down the East Coast, raised additional funds for ongoing research, and inspired numerous individuals to join the fight against the disorder.

After both his ride and his run, Al wrote books about his experiences on the road: the things he saw, the emotions he felt, the challenges he faced and of the extraordinary people he met along the way. His books about these athletic endeavors, Crossing America For A Cure and Running The Coast For A Cure, are available for purchase on Amazon and all sale profits directly benefit Sturge-Weber research at Kennedy Krieger Institute.

Al will be signing and selling both of his books on August 10 from 6:30 p.m. – 8 p.m. at Charm City Run in Timonium. We hope to see you there!

[enzaime-blog]

Abnormal blood vessels in the brain and possibly in the eye

New Story has been published on https://enzaime.com/abnormal-blood-vessels-brain-possibly-eye/

Abnormal blood vessels in the brain and possibly in the eye

In March of 2012, Bari and Cory’s son Cole was diagnosed with Sturge-Weber Syndrome, a rare vascular condition where a child is born with a port-wine birthmark and is found to also have abnormal blood vessels in their brain and possibly their eye. After receiving the initial diagnosis, Bari and Cory didn’t know where to turn so, like most people, they searched the internet for answers. It was at this point that they first learned about Dr. Anne Comi and her work surrounding Sturge-Weber. According to Bari, they “sent Cole’s records to Dr. Comi to review and Cole’s been a patient of hers ever since.”

In January of 2014, Cole’s grandmother, Cyndy, was struck with inspiration. She was going to run the ING half marathon and use the opportunity to raise funds for Dr. Comi’s Sturge-Weber clinic at Kennedy Krieger Institute. She began the process by contacting Institute staff who informed her that she could create a Fundraise Your Way website. This easy-to-use online tool allowed Cyndy to reach out to her family, friends, and coworkers letting them know that she was going to run a half marathon and asking them to consider pledging a donation for every mile she runs. Less than three weeks later, Cyndy fulfilled both her goals of completing the half marathon and raising funds for Kennedy Krieger.

Other family members were so inspired by Cyndy that the “Run 4 Cole” team has grown to include both mom and dad, aunts and uncles and some friends. Since that first race in 2014, Run 4 Cole has raised more than $21,000 for Sturge-Weber research. Thank you Clark family for everything you do on behalf of Kennedy Krieger! We are truly grateful for your support.

You too can make a difference in the lives of children seen at Kennedy Krieger by dedicating a race, birthday, wedding, card tournament, or wherever your passion lies! To find out more visit KennedyKrieger.org/FundraiseYourWay.

[enzaime-blog]

The Telltale Signs of The Sturge-Weber Syndrome

New Story has been published on https://enzaime.com/telltale-signs-sturge-weber-syndrome/

The Telltale Signs of The Sturge-Weber Syndrome

Just call Theo Shamberger Mr. Mellow. Always an easy baby who’s grown into a laid-back preschooler, Theo’s life has, in reality, been far from mellow.

When he was born, his doctor thought his face had been bruised during delivery because of the Port-wine birthmark that stretches from the left side of his scalp to his neck, covering his left eye and ear. But, worried that it might be more, doctors told his parents that he might have Sturge-Weber syndrome, a blood vessel malformation in the brain, skin, and eye. At only four-days old, he slept through an MRI that showed the telltale signs of the syndrome.

The diagnosis was overwhelming at first, but Theo’s pediatrician referred him to Dr. Anne Comi, director of the Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute. With the support of the committed team of medical professionals at Kennedy Krieger, Theo’s parents, Brandi and Peter were eased into the understanding that Theo had a neurological disorder.

“We feel so lucky to have met doctors who are so knowledgeable. The team at Kennedy Krieger gave us information and helped connect us with other families who were dealing with Sturge-Weber.”

Theo had his first seizure on his two-month birthday, just a week after his first appointment at Kennedy Krieger. Armed with information from Dr. Comi, Brandi knew what was happening right away, but it wasn’t enough.

“Seizures in very young infants with Sturge-Weber syndrome are frequently very difficult to control at first and can be associated with a stroke-like episode,” says Dr. Comi. “This is what happened with Theo.”

As a result of his disorder and the seizures, Theo has a visual field cut—he can’t see to the right in either eye—and his left eye has high pressure, which is checked every few months. One seizure caused paralysis on his right side, which has been improved considerably with physical and occupational therapy at the Institute.

Theo also shows a developmental delay, which manifests primarily through language. Signing helps him communicate with his younger brothers and parents. And Theo’s birthmark has even been lightened with laser treatments—and it’s now the furthest thing from his mother, Brandi’s mind. She laughs when she thinks of her initial concerns—that Theo would be teased about his birthmark at school.

“Theo has been through some difficult challenges,” Brandi says. But with support from Dr. Comi and Kennedy Krieger, Theo and his family have faced each one of them with their characteristic calm and confidence.

“The most important thing we’ve learned is to take one day at a time,” she says.

— by Laura Laing

[enzaime-blog]

Hide and Seek With Sturge-Weber Syndrome

New Story has been published on https://enzaime.com/hide-seek-sturge-weber-syndrome/

Hide and Seek With Sturge-Weber Syndrome

Lola Happel’s Story

“Henry! Wake up!”

In typical, high-spirited fashion, three-year-old Lola Happel demands that her baby brother open his eyes to look at her.

Lola’s got a spitfire, girly-girl personality. She’s not quite a diva, her mother says, but she’s pretty darned close. Partial to dress-up clothes, she typically changes outfits three times a day. Jingle Bells is a favorite tune and Lola does ballerina leaps and spins across her living room. And frequently, the Happel’s four-pound Maltese becomes a shark that Lola must hide from.

“She’s a big personality in a little body,” explains her mother Amanda. “And she has a great imagination.”

Impossibly long eyelashes shade Lola’s big blue eyes, and blonde hair frames her olive-toned face. In fact, Lola is the picture of perfect health. But when she was 6 months old, Lola was diagnosed with Sturge-Weber syndrome, a blood vessel malformation in the brain, skin, and eye. One of the early signs was the port-wine birthmark that covers Lola’s right eye and eyebrow, extending from her upper lip to her hairline.

“With rare disorders like Sturge-Weber syndrome, there aren’t a lot of resources immediately available to parents and that lack of knowledge can be daunting,” says Dr. Anne Comi, director of the Hunter Nelson Sturge-Weber Center. “Our goal is to give families the knowledge they need to live successfully with the disorder.”

Amanda admits that Lola’s a very lucky little girl: unlike many children with Sturge-Weber, she shows no signs of eye problems, she has had only one seizure, and the port-wine birthmark has been lightened remarkably by four laser surgeries.

Still, at a slight 25 pounds, Lola’s parents and her doctors are a bit concerned about her size, since about 61 percent of children with Sturge-Weber have a growth hormone deficiency. Endocrinologists suggested growth hormone therapy, but Lola began throwing up while on the medication and then had her only seizure—making her parents reluctant to give it another try.

In the fall, Lola will start preschool—a step that she and her family are ready for, thanks to the support of the Hunter Nelson Sturge-Weber Center at Kennedy Krieger. She’ll fit right in with the other headstrong kids. There’s no doubt she’ll soon have her classmates falling in line—just like her little brother.

— by Laura Laing

[emmajackielee]

Stuff I Learned: Neurocutaneous Syndromes

You learn a lot from writing a PBL case.

Neurofibromatosis

Neurofibromata are peripheral nerve sheath tumors can be cutaneous, nodular, or plexiform which can become malignant (MPNST, malignant peripheral nerve sheath tumors)

NF1 vs. NF2:

In NF2, cafe au lait spots are not as common, and Lisch nodules are not seen at all

Neurofibromata have smaller chance of malignant change

Spinal root tumors are schwannomas in NF2 and neurofibromas in NF1

NF2 is not associated with the cognitive impairment

NF2 is associated with a very high prevalence of bilateral acoustic schwannomas

Tuberous Sclerosis

Ash leaf spots = hypopigmented macules and there have to be at least 3, at least 5mm in diameter to “count“ in tuberous sclerosis

Subependymal = periventricular, and SEN only show up on CTB at around 2 years of age

Adenoma sebaceum = angiofibroma, and there have to be at least 3 to fulfill the criteria

Shagreen patches are roughened, elevated lesions that most often occur in the lumbarosacral region of the back

80% of TSC cases are due to de novo mutations, and TSC2 mutations are 4x as common as TSC1 mutations in de novo cases

Commonest features of TS: epilepsy, SEN, tuberous-associated neuropsychiatric disorders (TAND), cardiac rhabdomyoma (infants), renal angiomyolipoma, asymptomatic LAM, angiofibroma

Sturge-Weber Syndrome

Diagnosis requires at least 2 of the 3

Port-wine stain

Increased intra-ocular pressure

Leptomeningeal angiofibromatosis

[papa-moth]

nothing I love more than chronic headaches thanks to a condition that no one seems to talk about not to mention the fact that people on this website have the audacity to say that I can't comment on shit about disabilities

[medbeyondwords]

Sturge-Weber syndrome

Condition that affects the development of certain blood vessels, causing abnormalities in the brain, skin, and eyes. It has three major features: port-wine birthmark, leptomeningeal angioma, and glaucoma. Not all individuals with Sturge-Weber syndrome have all three features.

Port-wine birthmark. Caused by dilatation of capillaries near the surface of the skin typically on the forehead, temple, or eyelid and it usually appears only on one side of the face.

Leptomeningeal angioma, it can impair blood flow in the brain and lead to atrophy and calcification. One or more of the following symptoms may result: seizures, developmental delays, paralysis, migraines, ischemic stroke, tissue overgrowth, endocrine issues, organ irregularities, partial loss of visual field.

Glaucoma it can cause vision impairment. In some affected infants, the pressure can become so great that the eyeballs appear enlarged and bulging (buphthalmos).

Sturge-Weber syndrome is a congenital, non-familial disorder estimated to affect 1 in 20,000 to 50,000 individuals. 

Treatment:

Laser treatment to lighten and/or remove port wine birthmarks.

Anti-convulsants. VNS implants and brain surgery can be also be utilized for seizure management. 

Eye drops or oral medications to control the glaucoma.

Source 

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