Young Genetic Stroke Alliance

11/22/2023

Experts at Massachusetts General Hospital and Harvard Medical School traced a baffling smooth-muscle disorder to a tiny regulatory RNA, solving a medical mystery that had plagued a teen since birth.

11/14/2023

Our November educational session is on epilepsy, in honor of Epilepsy Awareness Month. Register in link in post below.

November is Epilepsy Awareness Month. Join us for this webinar.

Epilepsy: Diagnosis & Treatment Options in Children Who Have Had Stroke or Brain Injury
Friday, November 17, 12 PM ET
Virtual

Parent and Advocate Audrey Vernick, Director of Patient and Family Advocacy at Pediatric Epilepsy Surgery Alliance, will share her perspective as a mother and advocate.

Neurologist Ronald Thibert, DO, MSPH will offer a medical perspective on epilepsy monitoring, treatment, and considerations.

There will be time for questions and discussion.

Audrey’s first son, Bennett, had a stroke in utero, which caused chronic, unrelenting infantile spasms while on six different medications for 30 months before he underwent a right hemispherectomy at age 2 ½, resulting in complete seizure freedom. He had a shunt placed five years later to resolve subsequent hydrocephalus. Today, he remains seizure-free. This experience led her to become a parent and patient advocate and to explore the long-term functional outcomes of hemispherectomy and other surgeries for epilepsy.

Audrey serves as the Director of Patient and Family Advocacy for the Pediatric Epilepsy Surgery Alliance, supporting families and pediatric epilepsy surgery patients across the lifespan.

Dr. Thibert received his B.S. in biology/psychology from the University of Notre Dame in 1994 and his MsPH in Epidemiology from the University of Massachusetts School of Public Health in 1996. After graduating from KCUMB in 2000, he did his Pediatric training at Henry Ford Hospital from 2000-2003, followed by his Pediatric Neurology training at the Floating Hospital and Children's Hospital Boston from 2003-2006. He then completed a fellowship in Pediatric Epilepsy/Clinical Neurophysiology at MGH from 2006-2008 and remains on staff there in the Pediatric Epilepsy Program. He is also an Assistant Professor at Harvard Medical School.

Dr. Thibert has a special interest in the treatment of epilepsy and epileptic encephalopathies in children with autistic spectrum disorders. He sees children and young adults with autistic spectrum disorders and epilepsy at the Lurie Center and, if indicated, performs long-term EEG monitoring at MGHfC as part of the diagnostic process. A full range of treatment options including dietary therapy for epilepsy is available.

Dr. Thibert is the Director of the Angelman Syndrome clinic and MGHfC/Lurie Center and is on the Scientific Advisory Committee of the Angelman Syndrome Foundation. He is the Director of the Dup15q Center at MGHfC/Lurie Center and is on the Professional Advisory Board of the Dup15q Alliance. He is also the Co-Director of the newly founded Pitt Hopkins Clinic.

Register in advance for this meeting to receive a confirmation email with a link to join the meeting:
https://partners.zoom.us/meeting/register/tZIlcu-urTkqG9JH9vjEpZJfweQTnoEECP-A

05/18/2023

One of the priorities at YGSA is working towards an early diagnosis of genetic conditions in children that can lead to pediatric strokes and, since May is Pediatric Stroke Awareness Month, we'd like to remind you why this is so important.

Knowing that your kid is at risk of having a pediatric stroke makes you prepare. Makes you ready to read the signs and act fast. Makes you useful right in the moment, when you don't hesitate about calling an ambulance or taking your kid to the nearest hospital.

It really creates a difference and influence the improvement of outcomes and quality of life of your kid.

Right now, at YGSA we keep working in educating the medical community about Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS), one of the genetic diseases that causes strokes in children.

Our goal, more children getting diagnosed earlier on life and more parents being aware of the information they need in order to get the best treatment and care for their families.

To help us making an early diagnosis a reality, here is a link so you can contribute: https://ygsa.org/donate/

Source: Stanford Medicine Children's Health

05/04/2023

Tomorrow is the day!

The 2nd Conference on MSMDS will officially start in just a few hours and we all have the chance to hear Dr. Musolino speak about really important topics for this lovely and special family that we have created. So, mark these dates on your calendar because you won't want to miss a bit of it:

5th of May
1:30PM EST: Brain Development & Dysautonomia
3:15PM EST: Gene-targeted therapies for MSMDS

6th of May
11:30AM EST: Monitoring & Management Recommendations

And no worries if you can not attend at the exact time of the talks, everything will be recorded and sent to your email inbox once the conference finishes. The only thing you need to do to get the recordings it's to fill out this registration form as soon as possible: https://bit.ly/registration_Conference23_MSMDS

Looking forward to seeing you all!!

05/03/2023

Only two days to go!

Get ready to learn the latest insights on the heart and aorta in MSMDS patients from Dr. Mark Lindsay, pediatric cardiologist at Massachusetts General Hospital specializing in the research of human arterial disease.

Dr. Lindsay will be speaking at 9:30AM EST on Friday. He will also refer to the Postural Tachycardia Syndrome (POTS) that some of you are familiar with. We'll also have the chance to hear about up to date news on the gene-targeted therapies for MSMDS that Dr. Lindsay is working on along with Dr. Musolino. This second talk is also scheduled for Friday, at 3:15PM EST.

We hope to see you there, online or in person. Either way, don't forget to fill out the registration form: https://bit.ly/registration_Conference23_MSMDS

05/02/2023

Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS) received its name back in 2010 when it was discovered by Dr. Dianna Milewicz. Since then, her team at the University of Texas, in Houston, has been working on gaining better understanding of this mutation in the ACTA2 gene and, now, Dr. David Murdock will give us the latest news on the ongoing research during the 2nd MSMDS Conference.

We will have the opportunity to get better acquainted on the history, causes of complications and potential therapies for Smooth Muscle Dysfunction Syndrome, the 'shorter' name given by Dr. Milewicz to this ultra rare disease.

Dr. Murdock, molecular and human genetics assistant director, will be the first speaker at the Conference on the 5th of May.

Remember, no matter where in the world you are... we'll bring the talks to you via Zoom and, if you cannot make it on time, we'll send you the recordings via email.

Get onto the list of attendees by completing this registration form: https://bit.ly/registration_Conference23_MSMDS

Stay tuned!

05/01/2023

For the majority of the population, receiving a diagnosis should be a straightforward path for a treatment, something that doesn't happen with rare diseases. Instead, going from point A (diagnosis) to point B (treatment) takes a lot more of 'letters' in between and, for many of us, those letters resemble a martian vocabulary more so than the one that we all know.

To help us walk through this labyrinth, Dr. Rebecca Oberman will be explaining the treatment development pipeline for rare diseases during the 2nd MSMDS Conference. You can still enroll through this link: https://bit.ly/registration_Conference23_MSMDS

Save the 5th of May at 1:00pm EST in your calendar to get clear more familiar with the road we all have ahead in language we can understand. 😊

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04/28/2023

04/19/2023

For those of you travelling to Boston in order to get gastroenterology care, Dr. Christopher J. Moran is already a familiar face. For the rest of you, Dr. Moran is an attending physician working in the Gastroenterology & Nutrition unit and the Pediatric Inflammatory Bowel Disease Center, both based at the Mass. General Hospital for Children.

With an interest in the genetics of the very early onset inflammatory bowel disease, Dr. Moran is one of our key presenters helping us gain knowledge of the effects of MSMDS in gastroenterology.

We will have the pleasure of learning from him during our upcoming MSMDS Conference 2023. Only two weeks to go now!

Still time for you to book your place by completing the registration form in the link below, whether you're attending in person or virtually: https://bit.ly/registration_Conference23_MSMDS

04/13/2023

Congenital mydriasis, accommodative insufficiency and retinal vascular tortuosity are the most common ocular manifestations in MSMDS patients, affecting the majority of reported cases all over the world.

To understand what that means in terms of vision issues, Dr. Joseph Rizzo, director of the Neuro-Ophtalmology Service at Massachusetts Eye and Ear, will be presenting alongside Dr. Patricia Musolino during the 'Brain, Eye and Dysautonomia' chat that we'll be having on the 5th of May at this years MSMDS Conference.

There will be a reserved time to address any questions you might have about this matter. Only thing you need to do now is book your place (online or in person) so you don't miss this date ;) https://bit.ly/registration_Conference23_MSMDS

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04/05/2023

The lungs is another part of the body of concern for MSMDS patients. Although not all of them are showing issues in terms of respiratory problems, these can be quite severe for some of our kiddos with a diagnosis such as interstitial lung disease, a group of disorders related to the ability to breathe and get enough oxygen into your bloodstream.

Dr Bernard Kinane has already been in touch with several of you, an experience that he has shared with our community during the past MSMDS Conference in 2019, as well as in some other webinars offered to us in the past.

Again this year, Dr. Kinane will be attending our MSMDS Conference from 5th to 7th of May, the perfect opportunity to gain better knowledge of the relation between MSMDS and pulmonary issues and to address your questions regarding lungs concerns.

Click on the link to complete the registration form while you wait for the water to boil for your well deserved cup of tea/coffee ;) It just takes one minute! https://bit.ly/registration_Conference23_MSMDS