ULTRA RARE Tissue Banking — And Why You Should Be Prepared Now
Most people don’t think about tissue donation until it’s too late. With all the thing you manage, Tissue Banking?!
For rare disease families, that moment can arrive without warning and often in the middle of a medical crisis.
I learned this the hard way. After my daughter’s first brain surgery, I discovered that tissue banking even existed. I saw a blog post from another rare mom. I’ll never forget the pit in my stomach knowing that the tissue we could have preserved was gone forever. It could have been studied, it could have answered questions, it could have brought us one step closer to a cure. But because I didn’t know, we missed that chance.
When the opportunity came again, during her second surgery, I refused to let history repeat itself. As soon as the emtions settled I started the race to tissue banking. Most hospitals do not have IRB status or tissue banking set up.
The Race Against Time
Last-minute tissue banking is not calm, tidy science. It is chaotic, urgent, and emotionally raw. Learn from me find the bank you want and prepare.
While your child is being prepped for surgery, you’re on the phone securing IRB approval, finding a researcher to accept the sample, and convincing the hospital to coordinate. Surgery could be for tonsils, hernias, apedix, not even related to the rare disease but its tissues that can be used for research. You may need to sign emergency consent forms, navigate HIPAA releases, and answer questions from staff who have never seen this request before. I even looked for IRB approval for myself as a last resort. I am a nurse and well I could do it. Could I? I wanted to be prepared. I even contacted the IRB that I currently hold certification for tissue IRB status. Panic but solution forward.
Even once approvals are in place, you still have to ensure:
Collection kits are on site and sterile
The surgeon knows exactly what to preserve and how
Pathology is ready to handle the sample immediately
A courier can deliver it to the research lab within hours
The receiving lab is on standby to process it on arrival
One wrong number, one missed voicemail, and the opportunity is gone. Forever.
This scramble is the unspoken reality for many ultra-rare families. Unlike cancer, where tumor biobanking has become standard practice, parents in diseases like galactosemia are often the ones coordinating logistics from waiting rooms. The system isn’t built for us. Yet the science and the stakes demand that we find a way. For me I emailed everyone and called everyone at the hospital. NO ONE GOT BACK!! I finally looked up the CEO called twice. Once with patience, and 2nd time with feirce advocacy “I am shocked that a childrens hospital doesnt want to be apart of curing ultra rare diseases” YES! I said it, and with that everything was was put into place.
The Emotional Weight
After everything was said and done, I found myself sitting in the waiting room with her tissue sample in my lap — a part of her brain in my hands. It was surreal, the climax of unbearable pressure to do something, anything, that might one day help cure galactosemia. I never imagined I would have to go this far. While tissue banking does not add to risk. The emotional pressure is real.
All of this happens in parallel with the real reason you’re there, someone you love is in surgery, fighting for their health or their life.
You’re holding hope in one hand and heartbreak in the other.
The very tissue being collected is often tied to the disease that has already taken so much from your family. In my case, I knew that this brain tissue could help identify biomarkers for galactosemia markers like galactitol and galactose-1-phosphate (Gal-1-P), which correlate with damage in the brain, ovaries, and eyes.
For years, the FDA has insisted on traditional clinical endpoints, like functional tests and long-term trials, to approve therapies. But in ultra-rare conditions, those studies are almost impossible to complete. Tissue offers something different: a direct biological window into the disease process. It is where science can validate what families already know — that toxic buildup causes irreversible harm.
When the call came that researchers were ready, my relief was quickly drowned in paperwork, phone calls, and logistical chaos. Even with everything in place, the process came down to hours of frantic coordination on the hospital floor. I was juggling conversations with surgeons and pathologists while watching the OR doors close on my daughter. That is the dual burden rare parents carry: caregiver and clinical coordinator, all at once.
Why Preparation Matters
This experience taught me something every rare disease family should know:
Last-minute tissue banking is possible — but only if you are prepared in advance.
Preparation means:
Knowing which researchers or biobanks will accept your tissue type
Having consent forms and IRB protocols drafted before emergencies arise
Keeping collection instructions printed and ready for surgeons and pathologists
Identifying couriers who can transport biological samples within hours
Informing your medical team ahead of time, so you are not explaining during a crisis
Without this groundwork, you risk losing an irreplaceable opportunity. With it, you transform chaos into contribution.
Every missed specimen is a missed chance to prove what families live daily: galactosemia is not “diet-controlled.” It is a lifelong, progressive disorder. Each tissue sample moves us closer to validated biomarkers, which regulators like FDA say are essential for approving treatments. Yet families are often left to shoulder this burden alone.
Policy Gaps and the Fight for Evidence
Here is the bigger truth: rare families shouldn’t be left to scramble for tissue banking in the middle of crisis.
Federal agencies know the value of real-world evidence and biological samples, but the infrastructure has never been built for ultra-rare disease. NIH has funded tumor biobanks for decades, yet the same urgency hasn’t extended to ultra rare disorders. FDA guidance recognizes the difficulty of proving biomarkers in small populations, but without tissue, those biomarkers remain “unqualified” and locked out of trials.
In galactosemia, the stakes are staggering. Families face an estimated $7.23 million lifetime burden per patient in preventable costs. That number isn’t abstract — it is speech therapy bills, lost wages, disability services, and years of medical crisis. A fraction of that invested in tissue research could validate biomarkers, accelerate approvals, and slash costs. But until the system catches up, families are left doing the impossible: navigating IRBs from hospital waiting rooms, begging pathologists to save what should never be discarded.
This is not just about science. It is about justice.
The Takeaway: Tissue Is Legacy
Tissue banking is not just science — it’s legacy.
I will always carry the regret of missing that first opportunity for my daughter. But I will also carry the pride of knowing we made it happen the second time and that her story is now part of the fight for a cure.
For ultra-rare communities, where every patient counts and every sample is irreplaceable, this preparation is a form of love and advocacy. It ensures that no matter the outcome in the OR, something good can come from the struggle.
Don’t wait for the crisis. Get ready. Talk to your doctors now. Identify a lab. Draft your consents. Make the calls you hope you’ll never need to use.
Because in rare disease, legacy is written not just in the lives we live, but in the tissue we choose to save for those who will come after us.
Call to Action: Be Ready Before the Crisis
Families cannot carry this burden alone. Tissue banking and biomarker development must become part of the rare disease roadmap — not an afterthought.
Researchers: Don’t wait for the “perfect” therapy. Submit early to the FDA Biomarker Qualification Program. Even exploratory markers like Gal-1-P or galactitol matter. They build the scientific case regulators need.
Foundations: Even without a cure in sight, advocacy should include tissue preparedness. Develop consent templates, educate hospitals, and build relationships with biobanks like the NIH NeuroBioBank or COMBINEDBrain Biorepository. Every family that walks into an OR unprepared represents science and answers lost.
Community Leaders: Push NIH and FDA to fund biomarker validation and to treat tissue banking for ultra-rare disease with the same seriousness already given to cancer and Alzheimer’s research.
Preparation is power. Tissue today is the data that drives tomorrow’s treatments.
