Interested in the Combined Brain Biorepository?
Hello! My name is Rachel. Our family of 3 lives in the northern suburbs of Chicago with our two goofy dogs.
In June 2023, our daughter was diagnosed with Autism when she was 33 months old. This was not an unexpected diagnosis to us as we had our suspicions since she was only a few months old. Our Developmental Pediatrician then referred us to Genetics and in February 2024, she was officially diagnosed with a de novo GRIN2A deletion. This was entirely unexpected.
My husband, Matthew, is a Technology Administrator at a local high school and an avid Star Wars and Dungeons & Dragons fan. Before our daughter was born in 2020, I taught Special Education for 11 years. Coincidentally, I spent more than half of that time specifically working with Autistic students and other students with high support needs. Despite my experience working with students with disabilities, there is literally nothing that can prepare you to be on the parent side of disability. Due to our daughter’s unique needs, I have been “home” since 2020 and working as an independent contractor (when our daughter’s therapy and medical appointments allow me to do so) offering remote based reading intervention to students in public schools throughout the USA.
Our family just recently got back from the Combined Brain BioRepository collection in Indianapolis. While I wasn’t exactly sure of what to expect, we ended up having a really smooth and easy collection process. I wanted to share a few things about our experience that could help future families who choose to participate!
What or who is Combined Brain?
According to their website, “The Consortium for Outcome Measures and Biomarkers for Neurodevelopmental Disorders is a non-profit organization devoted to speeding the path to clinical treatments for people with rare genetic neurodevelopmental disorders by pooling efforts, studies, and data.” As a non-profit consortium led by patient advocacy foundations, they spend their time working with the clinicians, researchers and pharmaceutical firms that are developing treatments for the disorders they represent.
What is a Biorepository?
A biorepository is a facility that collects, stores, and manages biological samples (biospecimens) for research purposes. These samples, which can include blood, tissue, cells, DNA, RNA, and other biological materials, are meticulously cataloged and maintained for use in future scientific studies. Biorepositories play a crucial role in advancing medical research by providing researchers with access to high-quality biospecimens and associated data.
How does CureGRIN fit into this process?
CureGRIN is working to ensure that more samples from patients with a GRI related disorder are included in the biorepository for future access by physicians, researchers, and pharmaceutical companies. At this time, they are hoping to collect at least 25 samples from USA based patients with a GRIN1, GRIN2A or GRIN2B specific mutation, as well as 23 samples from USA based patients with a GRIA2 or GRIA3 mutation. This will help guide future research development when looking at treatments for GRI related symptoms.
If you choose to participate in the biorepository collection for GRI related disorders, trained staff will collect urine, blood, and nasal swab samples on site from each person with a GRI mutation.
Additionally, a same gender but unaffected parent of a child with a GRI Disorder, can participate in the biorepository by submitting to a nasal swab. (Example: if your daughter’s mutation is de novo, meaning neither parent carries the gene, Combined Brain will collect a nasal swab from the mother. The same is true for unaffected father and GRI son relationships).
There will also be surveys and questionnaires that you fill out online on your own time within 2 weeks from the date of collection.
Why should you or your family choose to participate in the biorepository?
GRI related disorders come with a huge variety of symptoms and severity. There is no one specific profile for a person with a GRI related condition and we want that diversity represented in future research/studies! Simply put, if you want to feel like your family is represented in potential findings and treatments, you NEED to participate.
Is there a cost?
There are no costs associated with the donation itself. Combined Brain provides all collection materials and handles them on site. If you are not local to a donation site and have to travel to participate, CureGRIN is offering a travel stipend to affected families who wish to participate but may not be able to afford the cost of traveling to the collection site. Please contact brittany@curegrin.com if you are interested in receiving a travel stipend.
I hate taking my child to medical procedures because the technicians are rarely equipped to handle a patient with extra needs and it becomes chaotic and stressful. Are Combined Brain staff and volunteers equipped to handle participants with extra needs?
Absolutely! I was so impressed at how great each staff member/volunteer interacted with us. Their specific mission is ensuring research takes place with rare genetic neurodevelopmental disorders and they are prepared to work with the people who actually *have* the disorders. At each part of the collection process, they chatted about what to expect and how to make accommodations for participants depending on specific needs, fears, or other reactions
I’m ready to participate in the biorepository. What should I expect?
Are there age limits?
No! Anyone with a GRI related mutation can participate regardless of age. If you have a child with a GRI related mutation, but do not carry the gene yourself, you can also participate in the biorepository if you are the same gender as the child with GRI. Remember, diversity of samples is important for research! The more participants who donate means more information for future research.
What do I need to do BEFORE the collection drive?
A CureGRIN representative or volunteer will contact you after you have informed them of your interest to participate. The CureGRIN representative/volunteer will submit a form on your family’s behalf that simply includes the names and phone number of anyone in your family who will be participating.
You will also need to create a CRID account and receive your CRID. A “CRID” stands for Clinical Research ID. You will fill in your/your child’s basic contact information and mutation type on this account. Don’t forget that an unaffected same gender parent will also need their own unique CRID. Your CRID will look something like this. I recommend saving a screenshot of your CRID card for ease.
Your CRID will look like the image above. You can create your CRID at thecrid.org . It took our family less than 5 minutes to complete and take a screenshot.
You should locate a few documents to have stored on your phone too! You will want digital copies of:
- The CRID (mentioned above) for anyone participating.
- Your/your child’s genetic report (Note: It did not list PDF as an acceptable file for uploading, but we and several others were able to submit a pdf with no issues.
- Optional: If your family has completed a Vineland assessment in the past calendar year, bring a digital copy of the completed report as well. The Vineland is a common assessment facilitated by school special education teams, developmental pediatricians, behavior analysts, and/or psychologists looking at all domains of development (social, communication, motor skills, behavior, daily living skills, etc).
**If you have already completed the Vineland in the past year, you can simply upload a file of the report instead of having to re-take the entire thing. This will save you a significant amount of time completing surveys later.**
We are registered! What should I expect on the day of the collection?
On the day of the collection drive, you will check in at the Combined Brain table. Using a smartphone or tablet, they will have you scan a QR code and input your CRID. You will then complete a series of consent forms for anyone participating in the collection. These consent forms will contain more information about the specific scientific purpose of the donation, how they will store your data, how they will store and later discard your biological material, etc. This is an important part of informed consent for research, so be sure to take your time reading these consent forms and ask a Combined Brain representative if you have any questions! It took us about 15-20 minutes to complete.
Once you have completed all applicable consent paperwork, a Combined Brain representative will walk you through the collection process!
How should we prepare for the actual collection?
- COME HYDRATED! You will be submitting a blood sample, urine sample, and nasal swab. If you are well hydrated, it makes the blood sample process faster. Additionally, it’s a lot easier to submit a urine sample without delay if you are pre-hydrated! Note: If you haven’t actually finished with the consent forms but the participant suddenly needs to urinate, ask the Combined Brain rep for the urine collection cup first!
- COME PREPARED with items to help with waiting and/or distraction. It can take some time (20 minutes or so) to complete the consent paperwork. If the participant has difficulty with waiting, be sure to bring your own items that help with wait times (ipad, coloring, sensory toys, any item that helps with wait time and/or distraction).
- By this point in your medical/genetic journey, most of us know the best way to get our children to participate in being poked or prodded for medical reasons. Here are a few tips to make the collection process easier:
For urine: Ask for the collection cup early if the participant needs to urinate
before consent forms are signed. For some participants (especially young females who may not understand how the collection process works), it may be easier to ask for a “urine hat” to take to the bathroom. Combined Brain provides these when requested. You place the urine hat on the front half of the toilet and then lower the toilet seat on top of the urine hat so that it holds in place. You can position the participant to ensure that urine collects or “catches” inside the hat. Once finished, you pour the collected urine into the actual research provided urine sample cup.
For nasal swab: Most of us are familiar with a nasal swab that a doctor may collect to determine if you have a respiratory flu or other virus. This swab will follow the same process and is collected from the tip of the nostril – the swab does not need to be inserted deeply! Combined Brain only needs to collect from one nostril for a very short time (think 3-5 seconds or less). Combined Brain reps can also collect this while the participant sleeps or is otherwise distracted.
For blood sample: This looks like a standard blood draw. They will wrap a band around the upper arm and place the needle on the inner forearm. They will collect 3 different tubes using the same needle site. The first two tubes will collect 10ml or less. The third tube will collect about 5-6 ml. In total, they are collecting less than an ounce of blood. This will go quickly, especially if the participant is hydrated!
The Combined Brain reps were absolutely PHENOMENAL with the collection process. They know that most parents know the best way to get a blood draw on a child and are willing to be flexible and accommodating for all participants. While at the Indianapolis collection site, I saw the reps collect blood on participants who were sleeping, were distracted on an iPad, hugging a stuffed animal, or playing with a high interest toy. You may need to help them by holding the participant in your lap or helping to hold the arm to keep it straight.
Side note: If you know someone who really struggles with any type of needle poke, I like to recommend The Buzzy. This is obviously completely optional and not required. It combines ice and vibration at the injection site to help distract the person and numb the area so that the feeling of the needle poke is dampened and less noticeable! While there is a personal cost associated with it, it is a great tool to have on hand at regular doctor visits when vaccines are administered or for future blood test purposes.
Are there resources available to help prepare a participant for what to expect during the collection process?
Some families may find these short videos as a helpful tool to watch before the collection.
Getting a Nasal Swab test (feel free to start video at 1:40 as the beginning is specific to COVID)
It’s worth mentioning one more time that CureGRIN is ready and willing to cover travel costs associated with the BioRepository collection and testing. It’s THAT important to get to the number of participants needed! Remember, if you want to feel like your family is represented in research, we need YOU!
Happy collecting!
