September 2021 | Yellow Brick Road Project HNRNPH2 News
Inside this Issue
Featured Family: Meet Clarke
Spotlight On: Sensory Processing Disorder
2021 Annual Conference & Family Meeting
2021 Awareness Week
Matrix Patient Registry
Natural History Study Update
Global Genes Summit
YBRP New Facebook Page
Featured Family: Meet Clarke
Our son Clarke received his diagnosis in April 2020, at 20 years old. It was quite a journey getting to this place. Here is how it started…
My husband Todd and I married in 1998. When he met me, he told me he wanted 6 children. I was already in my mid 30’s so I did not see that happening! A couple years into our marriage we decided it was time. If you are doing the math, I was fast approaching being past my prime for childbearing. ONE YEAR LATER we were blessed with a baby bun in the oven.
My pregnancy was great and uneventful. I was soaking it all up because I knew this would be my last try. At one point the doctor advised I had an elevated Alpha Fetal Protein test result, but we decided not to continue with more invasive testing. Our philosophy was whatever will be will be. Happy, healthy, I could not wait for our baby to arrive!
Clarke’s due date was December 24th. He actually arrived on December 28th. Those 4 days were the longest day of my life! Lots of walking at the fitness center, eating spicy food, we tried everything. On the 28thwe went to the Birthing Center for Clarke’s arrival. Later that afternoon he was born. There was nothing out of the normal with the delivery. Once he was born, he had a hard time feeding, had Jaundice, and was unable to maintain a good body temperature.
We went home 3 days later. Things got very hard. I remember thinking, “This shouldn’t be this hard”. The next few years were very challenging. Clarke was diagnosed Failure To Thrive, we had many specialist appointments, trips to the hospital in the middle of the night, he received every Early Intervention therapy offered. We did quite a bit of genetic testing trying to find his diagnosis, but everything came back normal.
It had become obvious to everyone that he was behind in his developmental milestones. I think he first sat up at 5 years old. To this day he does not walk unassisted. He is nonverbal, but has always showed he was receptive to what you were saying to him. Clarke prefers to use hand gestures and ASL to communicate with others. He has a small verbal vocabulary. I love hearing his voice! He continues to be friendly and social, loves music, books, and his favorite children’s show characters.
As a baby and young child Clarke was very susceptible to respiratory infections. Most of our trips to the ER were for respiratory events. He also had acid reflux, and chronic constipation from birth. It wasn’t until he was 5 years old that his health began to stabilize. I quit work when he was 14 months because he did not do well in a daycare environment. Everyone’s cold virus would make him very sick with Bronchitis, and eventually Pneumonia. Once I quit working, he started to gain weight and his health stabilized a bit.
Clarke attended public school. He started in the pre-school program and left public education at 18 years old to attend a local Developmental Day Program. School was very difficult for us as parents. I think Clarke was having a good time and was not impacted by his parents’ school struggles. There were only 3 years in elementary school where the teacher understood how to teach Clarke. The rest of the time we were continuously advocating with the school to be more inclusive with him and to give him more opportunities to learn.
In April Clarke finally received his diagnosis. It was a relief that we understood the what and why of his condition. I am thankful for all the information we received in the following days. We are now a part of a community of parents who are supporting each other and sharing information. Plus the ongoing research on treatments is just amazing.
Today Clarke is a charming young adult. I breathe a sigh of relief when I look at him and see how far he has come. We continue to include him in as many activities as possible, and he shows us he is continuing to learn and grow as a person. I am so proud of the handsome young man he has become.
Spotlight On: Sensory Processing Disorder
Sensory processing disorder is a condition in which the brain has trouble receiving and responding to information that comes in through the senses.
Sensory processing disorder may affect one sense, like hearing, touch, or taste or it may affect multiple senses. And people can be over- or under-responsive to the things they have difficulties with.
Like many illnesses, the symptoms of sensory processing disorder exist on a spectrum.
Children who have SPD may overreact to sounds, clothing, and food textures, or they may underreact to sensory input. This causes them to crave more intense thrill-seeking stimuli. Also, children with SPD are not always just one or the other. They can be a mixture of oversensitive and under-sensitive.
Children may be oversensitive if they:
Think clothing feels too scratchy or itchy.
Think lights seem too bright.
Think sounds seem too loud.
Think soft touches feel too hard.
Experience food textures make them gag.
Have poor balance or seem clumsy.
React poorly to sudden movements, touches, loud noises, or bright lights.
Children may be under-sensitive (sensory-seeking) if they:
Can’t sit still
Seek thrills (loves jumping, heights, and spinning).
Chew on things (including their hands and clothing).
Seek visual stimulation (like electronics).
Have problems sleeping.
There are different types of therapy:
Sensory integration therapy (SI). This type of therapy uses fun activities in a controlled environment. With the therapist, your child experiences stimuli without feeling overwhelmed. He or she can develop coping skills for dealing with that stimuli. Through this therapy, these coping skills can become a regular, everyday response to stimuli.
Sensory diet. Many times, a sensory diet will supplement other SPD therapies. A sensory diet is a list of sensory activities for home and school. These activities are designed to help your child stay focused and organized during the day. Like SI, a sensory diet is customized based on your child’s needs. A sensory diet at school might include:
A time every hour when your child could go for a 10-minute walk.
A time twice a day when your child could swing for 10 minutes.
Access to in-class headphones so your child can listen to music while working.
Access to fidget toys.
Occupational therapy. Your child also may need this therapy to help with other symptoms related to SPD. It can help with fine motor skills and also with gross motor skills, such as climbing stairs and throwing a ball. It can teach everyday skills, such as getting dressed and how to use utensils.
2021 Annual Conference & Family Meeting
The 2021 HNRNPH2 Annual Conference and Family Meeting took place on Thursday, July 22 and Friday, July 23, 2021. Families, researchers and clinicians attended from around the world on our virtual Zoom platform. Some of the highlights included:
The YBRP board presented on all of our initiatives over the past year and upcoming plans
Dr Jennifer Bain gave an update on her work with the Natural History Study
Dr Ane Korff presented a summary of the progress towards pre-clinical trials at St Jude Children’s Research Hospital
Dr Rotem Karni and Dr Ela Elyada shared their progress with the research project at Andlit
Dr Madelyn Gillentine spoke about her research into HNRNP-related disorders
Debbie Drell from NORD and Chris Adams from Cydan shared their experiences in the rare disease and orphan drug arenas
Families also had an opportunity to connect in smaller groups to discuss common areas of concern for our loved ones and to directly ask the researchers questions.
It was a wonderful two days full of information and connections and we were delighted to see so many of you there. We are keeping our fingers crossed that next year we can gather in person again!
Immediately following the family meeting, the 2021 HNRNPH2 Awareness Week ran from July 25 to August 1, 2021. This year the highlights of the week were the ‘pass the brick’ videos showing our families around the world working together to build the road to a cure, and our first HNRNPH2 Walk, which was a great success! Participants in the walk raised over $17,300 for HNRNPH2 research.
Thank you to everyone who took part!
As we mentioned in the last newsletter, the Yellow Brick Road Project was incredibly honoured to be chosen as the Charity of Choice by the MUNCH Token Community in May of this year. Our total donation received from this amazing opportunity was just over $429,000.
These funds are absolutely critical to help YBRP fulfil its obligation to our research agreement with Andlit Therapeutics and to fund further research projects going forward.
Our special thanks go to Andreia Ramos and Luis Figueiredo for making the connction and introducing us to the MUNCH community.
The YBRP is continuing to prepare to launch our own patient registry and we have now partnered with Across Healthcare and their rare patient platform Matrix. This replaces our previous agreement with Backpack, which has unfortunately decided to move in a different direction.
The board is working with the Matrix team to ensure we can collect all of the patient information that will be useful to researchers and drug developers as we continue to work towards a treatment for HNRNPH-related disorder. You can visit the Matrix website to find out more, and watch for our registry launch coming in 2022. https://acrossmatrix.com/
Natural History Study Update
The newsletter will contain a regular update from the research team conducting the HNRNPH2 Natural History Study. Dr Jennifer Bain is the principal investigator and Olivia Thornburg is her Research Assistant. They are based at Columbia University in New York City, USA.
What is a natural history study? A natural history study follows a group of people over time who have a specific medical condition or disease. The study collects health information in order to understand how the condition develops and how to treat it. It can be used as a baseline to determine if proposed treatments are effective.
We want to say thank you to all the families who participated in our summer research. As of September 2021, we have enrolled a total of 69 individuals with variants in hnRNP H2, although many more individuals have been identified. Dr. Bain’s research employs the use of an annual testing battery administered remotely. The surveys included test for various neurologic, behavioral, psychiatric, developmental, and social factors in this genetic group. We have also gathered information from genetic reports and other medical records. We have received 61 genetic reports, which are central to our testing battery! If you have not already done so, we encourage you to send us a copy of your genetic results.
This summer, we have continued to collect information for our natural history study. Thus far, we received motor videos from 12 families and gait videos from 4 families. Dr. Bain conducted neurological and physical examinations remotely with 23 families, and our Occupational Therapy team met with 8 families. We want to thank you for contributing your time and effort to our research! It is not too late to contribute to the Summer 2021 battery! Please be sure to complete questionnaires that have been emailed to you, and you can still send in videos of the motor task.
Due to some difficulties with the gait videos, we are going to start setting up one-on-one zoom meetings with the study team (introductions below) to record these sessions. Please be on the lookout for emails to set up these appointments in the fall.
A friendly reminder to register for Simons Searchlight with whom we work in partnership on parallel studies.
If you are interested in enrolling in Dr. Bain’s study, please contact the research team atHNRNP@columbia.edu.
Meet Our Natural History Study Researchers
Dr. Jennifer M. Bain, MD, PhD: Principal Investigator
Dr. Jennifer Bain is a child neurologist at Columbia University. She is an assistant professor of neurology in the Division of Child Neurology. Dr. Bain sees patients in her practice with neurodevelopment disabilities, including developmental delays, intellectual disability and autism spectrum disorders. She enjoys integrating current research in her clinical practice and studying the genetic findings associated with children’s diseases.
Dr. Bain began her hnRNP H2 research in 2016 and continues to lead the research team in evaluating hnRNP and related genotype-phenotype relationships.
Dr. Sylvie Goldman, PhD: Investigator, Kinematic Evaluation of Gait
Sylvie Goldman is a Developmental Neuropsychologist. She is an Assistant Professor of Neuropsychology in the Department of Neurology- Divisions Child Neurology & Cognitive Neuroscience at Columbia University Irving Medical Center. In her clinical practice, she evaluates children under the age of 6, for a range of neurodevelopmental disorders. Over the years, she has developed an expertise in using comprehensive battery of autism instruments including motor assessments.
Dr Goldman’s research focuses on disparities and delays in the diagnosis of ASD in girls. She has created video coding systems for dyadic interactions and motor atypicalities (stereotypies and gait) as well as kinematic and visual remote approaches.
Dr. Adel Ardalan, PhD: Investigator, Kinematic Evaluation of Gait
Dr. Ardalan is a postdoctoral research scientist at Princeton University. Dr. Ardalan’s research interests include a wide range of data management and analysis topics, from building frameworks and tools for large scale HILDA to applications of data management techniques on Big Data. Dr. Ardalan’s current research is in evaluating how neural networks represent the concepts they have “learned”. Dr. Ardalan studies such representations and their various topological and geometrical properties in recurrent neural networks of firing rate cells, specifically in the context of visual perception and its relationship with (working) memory.
Jacob Kang, Student: Columbia University in the City of New York
Jacob Kang is a third-year neuroscience major at Columbia University who conducts orthopedic research at Columbia University Medical Center. He will be working closely with the investigators on Dr. Bain’s research projects. Jacob will be meeting with you to complete the gait task this year!
Global Genes Summit
YBRP’s Quest for a Cure film was showcased at the Global Genes Rare Patient Advocacy Summit where YBRP president Trish Flanagan spoke about the power of joining forces with other families and the importance of collaboration to reaching our goal for a treatment and, ultimately, a cure for HNRNPH2-related disorder.
New YBRP Facebook Page!
YBRP has moved on Facebook! Our previous Facebook page has now been deleted, so to make sure you are receiving all our latest updates be sure to follow our new page athttps://www.facebook.com/HNRNPH2
Please invite your friends and family to like the new page as well!
On our Facebook page you will find information about the YBRP, updates on research taking place, wonderful videos featuring our families around the world, and our fundraising page where you can easily set up Facebook fundraisers where your Facebook contacts can donate directly to the YBRP. All donations through Facebook are fee-free, making it the most efficient way to donate. Tax receipts are automatically issued.
Don’t forget that using AmazonSmile is also a great way to increase donations to the YBRP, at no additional cost to you! Any purchases made through AmazonSmile (which has all the same products and prices at Amazon.com) come with a donation of 0.5% of the purchase price to the charity of your choice.
On your first visit to AmazonSmile -smile.amazon.com- you’ll be asked to select a charitable organization. Please search for “YBRP Inc”.