September 2021 Newsletter

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 24^th. He actually arrived on December 28^th. 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 28^th we 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. 

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.

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! 

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.

You can learn more about MUNCH and their charitable efforts on their website at https://munchproject.io/

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/

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 at HNRNP@columbia.edu.

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. 

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 at https://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.