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Schinzel-Giedion Syndrome Foundation

Schinzel-Giedion Syndrome Foundation

Providing support for families caring for a child with Schinzel-Giedion Syndrome.

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Dr. Hans Bjornsson, M.D., Ph.D.

Dr. Hans Bjornsson, M.D., Ph.D.

Dr. Bjornsson did his graduate work under the supervision of Andrew P. Feinberg, a leader in the field of epigenetics. He then joined the combined program in pediatrics and human genetics at Johns Hopkins. During his residency training, Dr. Bjornsson worked with Dr. Hal Dietz, a leader in the field of developing therapeutic options for patients with Mendelian disorders. In 2012, Dr. Bjornsson became an Assistant Professor of Pediatrics and Genetics at the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins. He has received multiple awards while at Johns Hopkins for research and clinical care. Dr. Bjornsson founded the Epigenetic and Chromatin Clinic in 2012, which is dedicated to the care of patients with epigenetic disorders and disorders of epigenetic machinery. He currently is Associate Professor of Genetics at Johns Hopkins University and Professor of Translational Medicine and Pediatrics at the University of Iceland.

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Scientific and Medical Advisory Board

Scientific and Medical Advisory Board
Our Scientific and Medical Advisory Board

We are very fortunate to have such a knowledgeable and well-respected team of scientists and medical doctors on our Advisory Board. Each of them shares our commitment to advancing the understanding of Schinzel-Giedion Syndrome and improving the lives of children born with this rare genetic disorder.

Title
Matthew Burkhardt

Chair of Scientific and Medical Advisory Board | Preclinical Target Discovery

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Leina Zhang
Dr Rocío Acuña Hidalgo

Molecular Genetics

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Title
Dr Bregje van Bon

Clinical Genetics

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Dr Hans Bjornsson
Dr Hans Bjornsson

Human Genetics and Epigenetics

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Dr Jessica Duis
Dr Jessica Duis

Pediatric Geneticist and Special Care Pediatrician

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Dr. Rocío Acuña Hidalgo, Ph.D.

Dr. Rocío Acuña Hidalgo, M.D., Ph.D.

Rocío Acuña Hidalgo, Ph.D. is a medical doctor and human geneticist based in Berlin, Germany. Her expertise lies in bringing together Next Generation Sequencing (such as exome sequencing) and molecular biology to unravel the molecular mechanisms of mutations that lead to human disease. Rocío completed her Ph.D. at Radboud University Medical Center, where she studied the molecular effects of SETBP1 mutations in Schinzel-Giedion syndrome using a combination of in silico and in vitro models. She did postdoctoral research at the Max Planck Institute for Molecular Genetics in Berlin, working on novel technologies to improve the diagnosis of patients with genetic disorders. She then co-founded Nostos Genomics, a company combining software and molecular biology approaches to improve the diagnosis of patients with genetic diseases. She currently serves as the Chief Technological Officer at Nostos Genomics. 

Back to Advisory Board

Scientific and Medical Advisory Board

Scientific and Medical Advisory Board
Our Scientific and Medical Advisory Board

We are very fortunate to have such a knowledgeable and well-respected team of scientists and medical doctors on our Advisory Board. Each of them shares our commitment to advancing the understanding of Schinzel-Giedion Syndrome and improving the lives of children born with this rare genetic disorder.

Title
Matthew Burkhardt

Chair of Scientific and Medical Advisory Board | Preclinical Target Discovery

Read More
Leina Zhang
Dr Rocío Acuña Hidalgo

Molecular Genetics

Read More
Title
Dr Bregje van Bon

Clinical Genetics

Read More
Dr Hans Bjornsson
Dr Hans Bjornsson

Human Genetics and Epigenetics

Read More
Dr Jessica Duis
Dr Jessica Duis

Pediatric Geneticist and Special Care Pediatrician

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Newsletter Signup

Sign-up to receive family stories and updates on our research projects and fundraising campaigns.

Matthew Burkhardt

Contact Matthew

Matthew Burkhardt

Chair of Advisory Board

Matthew has over 15 years of experience in preclinical target discovery across academic, startup, and industry sectors. He began in traumatic brain injury with the Neurosurgery Department at the University of Pennsylvania, moved into the industry at Merck for in vivo Alzheimer’s Disease small molecule drug discovery and disease modeling, and then moved to iPierian, one of the first companies to use the induced pluripotent stem cell (iPSC) platform. Since then Matthew has held positions at the Allen Brain Institute, Cellogy, and Novartis.

With Merck, he ran the bench experiments to support the in-licensing of Alectos Therapeutics’ O-GlcNAcase inhibitor (MK-8719). At iPierian, Matthew supported the early-stage discovery programs for iPierian/True North Therapeutics’ Progressive Supranuclear Palsy (PSP) and Cold Agglutinin Disease (CAD) monoclonal antibody assets that were sold to Bristol-Myers Squibb (2014) and Bioverativ (2017), respectively. Additional discovery work at iPierian/TrueNorth involved high throughput phenotypic screening for ALS candidate compounds.

Recently, Matthew has been heavily involved in entrepreneurial and innovative small company development in the San Francisco Bay Area (Indee Labs, Girihlet, IndieBio, Y Combinator, Verge Genomics). Further work has been done with rare disease organizations to advance their interests in addressing unmet needs.

Back to Advisory Board

Scientific and Medical Advisory Board

Scientific and Medical Advisory Board
Our Scientific and Medical Advisory Board

We are very fortunate to have such a knowledgeable and well-respected team of scientists and medical doctors on our Advisory Board. Each of them shares our commitment to advancing the understanding of Schinzel-Giedion Syndrome and improving the lives of children born with this rare genetic disorder.

Title
Matthew Burkhardt

Chair of Scientific and Medical Advisory Board | Preclinical Target Discovery

Read More
Leina Zhang
Dr Rocío Acuña Hidalgo

Molecular Genetics

Read More
Title
Dr Bregje van Bon

Clinical Genetics

Read More
Dr Hans Bjornsson
Dr Hans Bjornsson

Human Genetics and Epigenetics

Read More
Dr Jessica Duis
Dr Jessica Duis

Pediatric Geneticist and Special Care Pediatrician

Read More

Newsletter Signup

Sign-up to receive family stories and updates on our research projects and fundraising campaigns.

Aaron’s Story

Aaron’s Story

July 2020

Aaron has been Aaron since our 20-week anatomic ultrasound. Soon after revealing that we were having a baby boy, our obstetrician explained that Aaron’s kidneys were not growing like they should be and referred us to a perinatologist immediately. We weren’t sure what was going to happen next, but my husband and I felt strongly that our baby needed a name before we went any further. Damian already liked the name Aaron, and when we found out its Hebrew meaning – “mountain of strength” – we felt that it was meant to be. We never imagined just how well Aaron would live up to his name.

The kidney issue was ultimately diagnosed as hydronephrosis (an enlargement, or swelling), which created an excess of amniotic fluid. This wasn’t really a problem until the 31-week ultrasound, when it mysteriously dropped to a dangerously low level and I was admitted to the hospital for 3 weeks of constant monitoring. By 34 weeks, the amount of amniotic fluid was so low that our doctor decided it would be more dangerous for Aaron to remain inside the womb than come out. She scheduled a C-section for the next morning. On September 19, 2017, our much wished for boy was born!

We knew there was a chance Aaron might have trouble breathing due to his prematurity. I was in a daze from the spinal block, so it didn’t register to me that Aaron didn’t cry when he was born. In our first picture as a family, Aaron is wrapped up tightly with a BiPAP mask attached to his tiny face. Damian went to the NICU with Aaron, signing the first of many scary medical release forms that we would see over the next two years.

Aaron stayed in the NICU for 101 days. He was intubated with ventilator support for the first month. Two days after he was born, Aaron had surgery to insert a nephrostomy tube into the ureter of his right kidney to relieve the swelling, which worked better than anyone expected. After all of the initial worrying about his kidneys, they turned out to be the least of our challenges! Aaron had his first set of seizures when he was only 3 weeks old. An MRI revealed that he had polymicrogyria, an abnormality of the brain that can result in epilepsy and varying degrees of developmental delays.

Thankfully Aaron’s seizures could be controlled with medicine, although it took about 7 months to figure out the combination of medications that worked best for him. By the time Aaron was breathing on his own and allowed to start eating by mouth, it was extremely difficult to get him to take anything. He would have streaks of doing well, increasing the amount of milk he would drink each day. But after 2 or 3 days, he would revert back to taking almost nothing. The doctors suggested a g-tube so that Aaron could learn to eat at his own pace. Initially this idea felt very unnatural to us, but as we learned more about it, we realized it was the safest and fastest way that we would be able to take Aaron home. Getting the g-tube was one of the best decisions we ever made, as it allowed Aaron to get the nutrition and medication that he would have never been able to take any other way.

On December 26, 2017, the results of Aaron’s whole exome sequencing genetic testing came back. The geneticist told us that Aaron had Schinzel-Giedion Syndrome (SGS). She began to rattle off a long list of symptoms that Aaron might acquire: developmental delays, epilepsy, hearing and vision loss, chronic kidney disease, cancer. I interrupted her to ask what Aaron’s life expectancy would be, which surprised my husband and myself – normally we always made a list of questions together in advance to ask the doctors. The room got very quiet as we were told that the life expectancy for children with SGS is usually between two to five years. We asked the doctors to leave the information packet with us and end the meeting. Then we closed the door and both of us cried.

Three days later, we were finally able to take Aaron home and we threw ourselves into learning how to take care of our special boy. We slept in shifts. We became experts at pulling meds and running tube feeds. We learned how to position Aaron so that he wouldn’t struggle as much from the near constant reflux and infant dyschezia (straining to poop). We started physical therapy and practiced “neck control” for as long as Aaron could handle it. Aaron did not respond to many toys or sounds. Slowly he began to enjoy the crunching sound that a stuffed giraffe would make when he squeezed it, and eventually was even able to hold a spoon for a few seconds at a time. He started tracking toys that had lights in them. He was a happy, smiley boy and rarely fussed or cried, unless he was experiencing break-through seizures.

At 9 months old, Aaron started having infantile spasms. Oh, how I hated them. The prednisolone that he was prescribed stopped the spasms, which was the most important thing, but Aaron slept for 20 hours a day during that month of taking this medicine and was drowsy the rest of the time. It broke our hearts to see his progress with holding and tracking objects completely regress. We were so relieved when this course of medicine was over and our happy boy came back to us.

We decided to take Aaron to Sesame Place for his first birthday. We were not sure how he would handle all of the noise and people, but he smiled all day! We held a big party with family and friends a week later, which he also enjoyed so much! The night after his party, Aaron began to scream whenever we laid him on his back. After a day of this, we took him to the pediatrician. There was swelling at the base of his spine, where he had what the doctor had previously referred to as a hemangioma (a bright red bumpy birthmark). The pediatrician was shocked to see how large this had grown in the few months since he had seen Aaron and sent us straight to the hospital for an MRI. After several screenings, it was determined that this mass was a primitive neuroectodermal tumor (PNET), an aggressively malignant cancer.

We had always known that cancer was a possibility from the SGS diagnosis, but this didn’t stop us from being devastated when it actually happened to Aaron. The tumor was removed a month later, followed by 2 weeks of daily radiation sessions. Aaron was so strong – he handled the repeated sedation required for the radiation amazingly well. After the radiation, you could tell that he felt better. But about a month later, he started to have trouble tolerating his feeds. Even at the slowest speed, he would vomit repeatedly, barely keeping anything down. During a screening to look for intestinal blockages, the x-ray happened to catch images of gravel-sized specks in Aaron’s lungs. The cancer had returned, spreading to his lungs as Ewing’s sarcomas.

We were determined to give Aaron the best quality of life we could. We started hospice services and were blessed to be given the kindest and most thoughtful doctor and nurse team. They made all of us feel better. With their help, we took Aaron on two more trips: to visit family in New York, and a long weekend at the beach in Ocean City, MD. We gave him tastes of ice cream and french fries and helped him put his feet in the Atlantic Ocean. He didn’t like the cold water, but he did enjoy wiggling his toes in the sand.

At the beginning of June 2019, an MRI showed that the tumor at the base of his spine had started to grow back. We did one more radiation session which helped for a few weeks, but we could see Aaron start to decline by the end of July. He was sleepy a lot of the time, as we were constantly having to increase his pain medication. It hurt him too much to sit up, so he was always flat on his back or on his side. To hold him, I would lay him flat on a pillow that I put across my lap. Only Damian was able to carry Aaron in a way that wouldn’t make him wince in pain. At the end of August, he contracted a fever that wouldn’t go away. We were sent to the hospital for an x-ray that ended up showing a severe case of pneumonia, complicated by the tumors that were continuing to grow and spread in his lungs.

We took Aaron home and our hospice team arrived within the hour to help make him comfortable. They expected that Aaron would pass away within a few days. Not knowing what would happen each night while we were asleep, before bed my husband would say his favorite prayer as a child and then I would read Aaron a book by Nancy Tillman – “Wherever You Are: My Love Will Find You”. Our strong boy rallied to live for two and a half more weeks. Aaron passed away on September 11, 2019, just eight days before his second birthday.

Aaron showed us how to love with all our hearts. His strength and sweet spirit make us want to be the best versions of ourselves for him. Our hearts hurt every single day, but we are glad that they do because it means that Aaron is still with us. We decided to finish Aaron’s Celebration of Life service by blowing bubbles to him in the sky. As we did, we told him, “Our love will find you, wherever you are!”

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Dr. Bregje van Bon

Dr. Bregje van Bon, M.D., Ph.D.

Dr. Bregje van Bon, M.D., Ph.D. is a clinical geneticist at Radboud Medical Center, Nijmegen, the Netherlands.

She combines clinical work in the hospital with teaching medical students and conducting research. 

In one of her research projects, the SETBP1 gene was discovered as the genetic cause of Schinzel-Giedion Syndrome (SGS).  

She collected the clinical and molecular details from numerous children with this disease and published these findings. 

At home, she lives with her husband and three school-aged boys. 

Back to Advisory Board

Scientific and Medical Advisory Board

Scientific and Medical Advisory Board
Our Scientific and Medical Advisory Board

We are very fortunate to have such a knowledgeable and well-respected team of scientists and medical doctors on our Advisory Board. Each of them shares our commitment to advancing the understanding of Schinzel-Giedion Syndrome and improving the lives of children born with this rare genetic disorder.

Title
Matthew Burkhardt

Chair of Scientific and Medical Advisory Board | Preclinical Target Discovery

Read More
Leina Zhang
Dr Rocío Acuña Hidalgo

Molecular Genetics

Read More
Title
Dr Bregje van Bon

Clinical Genetics

Read More
Dr Hans Bjornsson
Dr Hans Bjornsson

Human Genetics and Epigenetics

Read More
Dr Jessica Duis
Dr Jessica Duis

Pediatric Geneticist and Special Care Pediatrician

Read More

Newsletter Signup

Sign-up to receive family stories and updates on our research projects and fundraising campaigns.

Nuala Summerfield

Nuala Summerfield

SGS Foundation Founder and Chair of Trustees

My daughter Ophelia was born in 2011 after an uneventful pregnancy and birth. However she suffered a respiratory arrest just minutes after birth and spent several weeks in a neonatal intensive care unit at a central London teaching hospital, baffling all the specialist doctors as to what was wrong with her. Once she was well enough to come home, life was a constant roller coaster of emotions, hospital visits and tests. Ophelia developed seizures at the age of 9 months old and it was this that led to her being diagnosed with Schinzel-Giedion Syndrome by a clinical geneticist who had trained with Professor Albert Schinzel (who first described the condition in in 1978). What are the chances of that!

Ophelia is our only child. She is now 9 years old and lives with myself and her father (and our 2 dogs and a cat) in West Sussex, UK. She continues to have daily seizures as well as suffering from many of the typical Schinzel-Giedion Syndrome symptoms such as severe neurodevelopmental delay, bladder problems and feeding problems. However, she is a wonderful, happy, sociable little girl who loves spending time with family and friends, enjoys going to school and loves nothing better than swimming and warm baths! She truly loves life and she is our daily inspiration.

I have been a practicing veterinary surgeon for over 20 years and have been involved in both clinical practice and in clinical research studies. I understand the need to practice evidence-based medicine founded on scientifically rigorous studies, but as a parent of a child with a severe life-limiting genetic condition, I also understand the desperation of parents to have research move more quickly from the laboratory to the clinic, where it can have a meaningful quality-of-life impact on our children. This was the driving force that led to the decision to establish The Schinzel-Giedion Syndrome Foundation in 2019 and I have been extremely fortunate to have been joined by such wonderful fellow parent Trustees in this endeavour.

As a new rare-disease organisation, with an important role of being the only charity representing the international Schinzel-Giedion Syndrome community, we have developed a well-defined strategic research plan with help from our Scientific and Medical Advisory Board, to ensure that we achieve our goal of accelerating the development of effective therapies for our amazing children.

Contact Nuala

Posted by COMBINEDBrain – Outcome Measures and Biomarkers for Neurodevelopmental on Saturday, July 11, 2020

Board of Trustees

Our Board of Trustees
Our Board of Trustees

Our Trustees are all parents of children with Schinzel-Giedion Syndrome. We are all volunteers, passionately driven to raise awareness and improve the lives of children born with this rare genetic disorder.

Title
Nuala Summerfield

Founder and Chair of Trustees

My Story
Leina Zhang
Emma Hudson

Secretary

My Story
Carina Rudolfsson
Carina Rudolfsson

Social Media

My Story
 Charla Andersen  
Charla Andersen  

Fundraising

My Story
Dana Bradley
Dana Bradley
My Story

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