Remember the campaign for the United Nations Dr. Cao was asked to be part of? here is the preview and apparently #RickyMartin tweeted about it! ‘Free and Equal’ is a United Nations campaign for LGTB Equality #pediatrician #brooklyn #faces #unitednations #freeandequal
Watch the video at: https://www.unfe.org/en/actions/faces–14
written by Jen #supermom
There is so much to celebrate at this time of year. The warm air…the beautiful greenery at Prospect Park…outdoor seating at our favorite restaurants…and so much fun to be had with our children! Here are some of the ways we can celebrate with our families over the next month in Brooklyn:
1- Annual Spring Carnival (Baltic St between Court & Clinton): Sponsored by Families First, this carnival on May 16th between 10am and 2pm is a day to celebrate families of toddlers to kindergarten-aged children. Features pony rides, two bouncy houses, face painting, tattoos, mini-carousel, carnival games, arts & crafts, a bake sale and balloons (there will also be a book sale and food vendors)!
2- Grow NYC Stop & Swap (Old Stone House): On May 16th from 12-3pmthere will be a chance for you to bring clothing, games, toys, etc that you no longer needle and perhaps take something home with you! Grow NYC is a non-profit which helps NYC’s quality of life.
3- The Fabulous 5th Ave Fair (5th Ave from Sterling Place to 12th St): More than 200 businesses are taking part in this fair on May 17th from 12-6pm. Highlights include restaurants/bars with outdoor seating, shops setting up tables and racks outside, a new art walk section between 1st and 2nd street, and a stage in front of NY Kids Club with music from Brooklyn Music Factory and a performance from The Urban Children’s Choir!
4- Fleece Festival (Prospect Park Zoo & Lefferts House): On Saturdays & Sundays through May 31st, see the sheep transition at the zoo from winter to summer by watching a sheep shearer help the sheep lose their winter coats. From 11am-4pm they’ll have wool demonstrations, crafts and music. At the Lefferts House between 2-4pm you can learn about how wool was used in the 18th century.
5- Bargemusic Family Concert (Brooklyn Bridge Park): Saturdays at 4pm through the end of June there will be a one hour family concert. Bargemusic presents chamber music on the floating barge at the foot of the Brooklyn Bridge.
6- From Here to There” (Brooklyn Children’s Museum): Explore transportation through twelve interactive exhibits, helping kids explore transportation by land, sea and air. May 23rd from 10am-5pm. (LINK CURRENTLY UNAVAILABLE AS WEBSITE IS DOWN)
7- Night Lights, Big City Stargazing (Brooklyn Bridge Park): On Saturday, May 30th at 7pm, come out for a night of stargazing and music with your family.
8- “Peanut Butter & Cupcake” (Barnes & Noble on 7th Ave): On May 30th at 2pm, come and enjoy a special storytime with special activities to follow. They will be reading “Peanut Butter & Cupcake” by Terry Border, a funny and heart warming book about a piece of bread looking for a friend to play soccer with.
9- Blast of Brass (Brooklyn Children’s Museum): Learn about and try instruments of the brass family in a concert for the whole family! For kids 5-12 years old. May 31st at 2pm and 3pm. (LINK CURRENTLY UNAVAILABLE AS WEBSITE IS DOWN)
10- Creole for Kids! Terrance Simien & The Zydeco Experience (Prospect Park Bandshell): From 4-7pm on June 6th come experience the Ezra Jack Keats Family Concert. The New Orleans singer and accordionist, Terrance Simien, brings a little New Orleans flair to the children’s book author and illustrator, Ezra Jack Keats. The day will also include readings from the author’s works by Dan Zanes (a favorite children’s entertainer and singer).
11- Best of BAM! Kids Film Festival Shorts (Peter Jay Sharp Building, BAM Cinemas): If you missed this year’s BAM film festival, come see the highlights in this program at 2pm on June 7th featuring 2 selections from the top children’s film festivals in North America.
Until our next local events update, enjoy what’s left of Spring and let’s hope this amazing weather continues! I don’t know about you, but I’m not missing winter one bit. Bring on the summer, flip flops and all!
This is not a joke, although it’s hilarious 🙂 Seriously, what wouldn’t I do to help my friend Jonah?
I have agreed to walk through Park Slope dressed as Elsa or Leonardo (you decide) to get the Park Slope Community involved in helping me raise funds for a cure for Sanfilippo Syndrome, a rare deadly disease affecting my little friend Jonah. Who decides what costume I will wear? YOU!!
How: at our office (we have pretty donation boxes) or online at https://www.crowdrise.com/ssp-mps-jjb/…/jonahsjustbegunfound
When: from now until we find a cure
Why: Jonah’s mom, Jill, has been working hard at finding a cure and beating the odds
With your help of $5.00 or more you can help me help Jonah, and you can decide which hilarious costume I will wear on Friday, May 29th smile emoticon (and yes, you can come with and take photos and videos and post to Facebook).
Will you help me?
By our very own Jen #supermom
For our second interview on the SSP blog we interviewed a very close friend, patient & Park Slope neighbor of ours, Jill Wood. Her story is about her brave and relentless fight to save her son’s life. When Jonah was just shy of 2 years old he was diagnosed with a fatal genetic disease that is so ultra-rare that there are only 18 cases known in the US. After the diagnosis, Jill took immediate action and started a foundation in his name, Jonah’s Just Begun, to help create awareness and advance the science needed for a cure.
SSP: How did Jonah’s Just Begun come to be?
Jonah was born July 30th, 2008, happy and healthy. Jeremy and I couldn’t take our eyes off of our remarkable son. He was our first child and his birth changed our lives. Jeremy remarked to his father that it felt like his heart had doubled in size, making room to hold all the love he felt for Jonah.
We were living in bliss with our little boy, dreaming of the years to come and all of the wonderful experiences that we would have together as a family.
At Jonah’s ﬁrst-year well visit our astute pediatrician, Dr. Hai Cao, suggested we get Jonah an MRI. Dr. Cao noted that the size of Jonah’s head was “off the charts.” Nine months later, Jeremy and I received news that changed our lives a second time: Jonah had Sanfilippo Type C, a rare disease that is both fatal and incurable.
Love doesn’t falter for your child after a horrific diagnosis. If anything it grows stronger. From that point forward, we understood that every second with our son was precious. We no longer take any family time spent together for granted.
SSP: What exactly is Sanfilippo and how are children affected?
Sanfilippo Syndrome is caused by a defect in a single cell. It is an inherited disease of metabolism that means the body cannot properly break down long chains of sugar molecules called mucopolysaccharides or glycosaminoglycans (aka GAGs). Sanfilippo syndrome belongs to a group of diseases called mucopolysaccharidoses (MPS). Specifically, it is known as MPS III.
Sanfilippo Syndrome occurs when the enzymes the body needs to break down the Heparan Sulfate (HS) are absent or are defective. When HS is not broken down, the body does not release it. Instead, it is stored inside the lysosomes of every cell in the body.
This is why Sanfilippo Syndrome is classified as a Lysosomal Storage Disease (LSD). As the GAGs accumulate, they damage the cells they are stored in. This leads to the progressive degeneration of the central nervous system.
To date there are four types of Sanfilippo syndrome. They are distinguished by the enzyme that is affected.
- Sanfilippo Type A: heparan N-sulfatase. Estimated incident rate is 1 in 100,000 live births.
- Sanfilippo Type B: alpha-N-acetylglucosaminidase. Estimated incident rate is 1 in 200,000 live births.
- Sanfilippo Type C: acetyl-CoAlpha-glucosaminide acetyltransferase. Estimated incident rate is 1 in 1,400,000.
- Sanfilippo Type D: N-acetylglucosamine 6-sulfatase. Estimated incident rate is 1 in 1,100,000.
Between the four types of Sanfilippo, the syndrome present in approximately 1 in 70,000 births.
SSP: What happens to a child with Sanfilippo Syndrome?
Sanfilippo is an insidious disease that often goes undetected for years. Most children are born with no visible signs that anything is wrong. It’s not until the preschool years (or later with some type C cases) that children start to show delays or deformities; even then, the disease is often misdiagnosed. Highly specialized and focused testing must be done in order to diagnose Sanfilippo.
Sanfilippo is progressive and can be broken down into stages.
First stage: The affected child will display delayed speech as well as mild facial abnormalities and behavioral issues. Some children will exhibit a large head, prominent forehead, bushy eyebrows, coarse hair, thick skin, short neck, full lips, low thick ears, a wide flat nose and full round bellies. Their facial features are described as “coarse.” Affected children are prone to sinus and ear infections, diarrhea, and tight Achilles tendons. They may have cavities or chipped teeth from weak enamel and headaches from accumulated fluid pressure. Children may seek input demonstrated by vestibular stimulation. Minor bone deformities like a raised sternum is quite common. The problems associated with Sanfilippo are vast and varied.
Second stage: The affected child will become extremely active, restless, suffer sleeplessness and exhibit difficult behavior. Many children are compelled to chew on things, grab at people or items, screech out loud or exhibit random fears. Some children have seizures others have visual and hearing problems. Again, these symptoms vary from child to child. Over time, speech and communication skills decline along with other cognitive and motor skills.
Third stage: The disease will take its ultimate toll. The child will lose the ability to walk, talk and eat on his own while his body shuts down. Death may occur as early as the age of three. More common, however, are children that live into their early teens, with some surviving into their twenties. A few cases of those with mild forms of Sanfilippo have lived into their early thirties.
Currently there is no cure for Sanfilippo Syndrome. In most cases, treatment is limited to reducing or controlling the symptoms of this disorder by making sure that neurologists, ophthalmologists, cardiologists, ENTs, orthopedicians, dentists and genetic counselors are consulted routinely.
Medications to control the behavioral problems associated with this disorder have not proven effective. Anti-convulsant medication may control seizures, devices can be inserted in the mouth to assist swallowing, and wheelchairs are often required as the disorder progresses to its final and immobile stage.
Genetic counseling is encouraged. Controlling the diet can be helpful – for example, removing dairy and gluten products to help reduce mucus secretions. Early Intervention services such as Speech, Occupational Therapy and Physical Therapy are also very beneficial for the children.
SSP: How rare (or ultra-rare) is this disease and is there a treatment?
There currently is not a treatment for Sanfilippo Syndrome. There are only 18 known cases of Sanfilippo subtype C known of in the United States
SSP: What is the current research?
JJB along with our consortium: Helping Advance Neurodegenerative Disease Science (H.A.N.D.S.) made up.of international medical research foundations have funded over a million dollars, driving the science for a treatment. Our gene therapy program is in it’s final stages of research. We have contributed $600,000 to this program over the last 4 years. We plan to be in clinical trial within another two years. Meanwhile we are supporting the research of three other treatment options.
SSP: What is next/what can you share with us?
In preparation for a clinical trial JJB/HANDS has initiated a Natural History Study, which will start enrolling this summer. The NHS follows and documents the course of the disease, we will need this study to compare the effectiveness of a treatment. We have also created a patient registry and are actively searching for the world’s Sanfilippo population. We plan to be able to apply for orphan drug designation this year and will start the preliminary talks with the Food and Drug Administration. In the near future we will start lobbying for new bor screening so that we can catch the disease at birth, and treat the child while they are still asymptomatic. Curing the disease completely.
SSP: What is needed NOW and how can we help support you?
Our gene therapy program is moving into the final stages, toxicology. This research is estimated to cost $750,000, JJB/H.A.N.D.S. is focusing all of our fundraising efforts to support this research, so that we can move to our first ever clinical trial for Sanfilippo Type C. This is a very exciting and frightening time. Money and time are the only two things that stand in our way.
Please visit Dr. Cao’s Crowdrise fundraising page and help fight alongside Jill – for her son and the other children affected by this rare fatal disease. EVERY DOLLAR HELPS!!! https://www.crowdrise.com/SSPforJJB/fundraiser/SouthSlopePediatrics