GLUT1 Deficiency community
Brain Bank Information
a final gift - bringing comfort, connection, and hope
When families choose to donate a loved one’s brain or other tissues, it’s an extraordinary act of generosity that helps unlock answers that cannot be found any other way. These donations allow researchers to study how the disease progresses in the human brain, leading to new insights that are essential for developing better treatments, earlier diagnoses, and potentially even cures.
We know this is a deeply personal decision that is difficult to think about, and no one should ever feel pressured. But for some families, knowing that their loved one’s experience may help prevent another family from facing the same heartbreak can bring a sense of purpose and hope in their grief.
The Scientific Gift:
Message from the Hemlock Family:
We are so grateful we had a son named Andrew “Drew” Hemlock. We’re grateful that Drew loved being rare—living with Glucose Transporter Protein Type 1 Deficiency—and that he was proud to help researchers through many of their studies.
We are grateful that we were with him when he passed away. Grateful that we knew CPR and started as soon as we realized he had no heartbeat. Grateful that, years earlier at a GLUT1 Deficiency conference before COVID, I had asked Dr. Juan Pascual a difficult question:
“If one of our GLUT1 children passed away—say in a car accident and they were in the hospital—would there be a way to donate their organs for research?”
He told us they were beginning to work on something because a donation like that could be immeasurably valuable in helping researchers understand GLUT1 Deficiency. We are grateful that, on the longest and hardest night of our lives, I felt a nudge from Heaven to email Dr. Pascual about Drew’s passing—even though he had died at home and I assumed tissue donation wouldn’t be possible.
We are so grateful that we were able to donate Drew’s tissues. So grateful that Drew continues to help with GLUT1 research—he would be so happy knowing he’s still helping his GLUT1 family. It blesses our hearts, even in our saddest moments.
The GLUT1 Deficiency Foundation, together with COMBINEDBrain and the University of Maryland, has now finalized a clear procedure for families who may one day find themselves in a situation like ours. Knowing this process exists brings us peace—and we hope it will bring peace to others, too.
Please consider making a plan in advance. Save the contact information in your phone under “GLUT1 EMERGENCY.” You will be so grateful to have it if that time ever comes.
With love to all our GLUT1 Family,
Jim and Pat Hemlock
*summary from the Hemlock Family 2022 G1DF Conference presentation
(please note the brain bank information should now be updated with the partnership details below)
Messages from Researchers:
"In rare disease research, scientists often rely on animal models—such as mice with Glut1 mutations—to study disease development and potential treatments. However, mice can only take us so far. Their brains differ from ours in important ways, and there are critical questions that can only be answered by studying human brain tissue."
"Having brain tissue samples from both individuals with GLUT1 Deficiency Syndrome and healthy individuals is invaluable. These samples help researchers better understand disease mechanisms and overall brain energy metabolism."
"Having brain tissue samples of healthy individuals and patients with GLUT1DS and allied neuroglycopenic disorders (like Alzheimer's ) would be invaluable in providing insights into the disease pathogenesis in particular and brain energy metabolism in general. Also, it would be beneficial if the tissues were stored in a form that can be used for all kinds of experiments (RNA-seq, protein assays, immunohistochemistry, and histopathology). This point is extremely pertinent to answer many basic biology questions that are popping up as our understanding of GLUT1 Deficiency Syndrome is improving (For example, one of the recent studies shows that Glut1 haploinsufficiency in mouse astrocytes is ameliorated by an increased expression of insulin receptors to maintain the ATP balance in the astrocytes). To verify such findings and to discover novel avenues to address neuroglycopenic syndromes, it is of utmost importance that we preserve the postmortem brain samples in a way that can be used for all kinds of assays that may be expected to verify such findings."
Details and Process:
Many people may be interested in donating tissue—especially brain tissue—but don’t know where to begin. The easiest way to get started is by contacting a Brain Bank, which acts like a central library that collects, processes, and stores donated human brain tissue for medical research.
To make this process easier for our community, the G1DF is partnering with COMBINEDBrain and the Brain Bank at the University of Maryland (UMBTB).
If you or a loved one is considering brain donation, it is strongly encouraged to have family discussions so others are aware of these decisions, to learn more about the process, and to complete the registration form in advance.
This advance preparation helps minimize stress during an already overwhelming and difficult time and allows the Brain Bank to prepare necessary paperwork and logistics. Unfortunately, it can be very difficult to make these arrangements after death has occurred.
Registration:
Fill out the registration form in advance if possible. If death occurs before the registration process has been started, call UMBTB at 410-706-1755.
Once you register, you will receive a code when you complete each part of this online registration form or when you choose to save and return to this form.
WRITE DOWN and SAVE this return code. If you do not save the return code, you will have to start the registration or part of the registration over. UMBTB does not have access to the return code to be able to assist you with this.
Circumstances:
Tissues must be collected within 24 hours of death.
If any of the following circumstances below are applicable at the time of death, please contact UMBTB before fully completing the online registration:
- have been on a life-supporting ventilator
- have had a stroke
- have a known infectious communicable disease (HIV, Hepatitis, Creutzfeldt-Jakob Disease (CJD), etc.)
- have active sepsis
It is possible that if any of the above circumstances apply, the tissue can still be collected and useful for research. Reach out via email or phone to UMBTB to discuss further (or have the hospital staff do it on your behalf if you cannot personally do it).
If death is imminent or has already occurred, please make sure to notify UMBTB as soon as possible. Hospital, emergency staff, or the coroner's office may be able to assist you if you are able to give them these details and contact information.
Contact Information:
Should you have any further questions about the process or while completing the forms, please don’t hesitate to contact UMBTB:
- [email protected]
- 410-706-1755