Collaboration Delayed-Is Treatment Denied
Raising My Voice for Galactosemia
I joined C-PATH global impact conference. I took the mic, even though I hate doing it. I am one of the very few rare mom’s at this event, but I will raised my voice for Penelope and galactosemia.
“How can families be asked to join research and drug trials without a clear path forward. It is not ethical to risk children or patients on a process with no direction. We are not set up for success. How can I encourage trial participation when FDA signals uncertainty, academia avoids public positions and gatekeeping, and industry is constrained by rules and investors. Patients are caught between intimate hope and rigid legal standards that were never written for rare, especially not for ultra rare.”
I started like any mother. We joined a trial because there was no cure and not one approved treatment. Seizures and tremors were getting worse, and it felt like the only option. We heard adults did well. I spent a year making the best decision I could with the information I had. The company and FDA did not align, and the drug received a Complete Response Letter. Over the years I have been told the obstacle was FDA, or the law, or Congress, or statistics, or trial design, or sample size. The target kept moving. My daughter and patients in the middle being pulled in too many directions.
What I learned was sobering. Academic standards do not equal FDA standards, and collaboration is often limited. The real world evidence families work so hard to contribute is sometimes dismissed as anecdotal. FDA asks for regulatory grade data. Some insurers hesitate to cover medicines approved on an accelerated basis. That gap leaves rare families stranded between systems that do not line up. Trying to solve those gaps and build patient data that truly matters is what led me to C-Path, where the work is to turn patient experience into validated, standardized evidence that regulators and payers cannot ignore.
For families, significance means something different than a p value. It is one less seizure. One new word spoken. One child who keeps vision or fertility. Until there is a clear path, families carry the risk while regulators, academia, and industry debate. That is not ethical.
Today I sat in the front row of the C-Path Global Impact Conference. The sessions were full of energy. Speakers reflected on twenty years of progress. The room felt hopeful. Later, as I walked through the lobby, I passed a private celebration. Champagne bottles caught the light. It was a symbol of success well earned.
And yet I carried a knot in my stomach. I held back tears all day. I usually get excited too. But today I know too much to celebrate. It felt like opening Pandora’s box of rare problems and then being asked to pretend the box was never opened.
I did not come for champagne. I came because we donated our daughter’s brain tissue for research and made sure it could be used by any scientist or company that would help. I came because this summer I asked thirty eight experts for collaboration and only two said yes. One reply made me feel like I crossed an unwritten boundary. I cried. My usual optimism cracked. I believed collaboration could move faster if FDA, industry, academia, and patients sat at the same table with clear next steps and shared accountability.
The gatekeeping no one talks about
There is a truth many rare families learn too late. When you sign up for research, the data you provide, your blood, your surveys, your child’s medical records, may never be shared beyond a single project. It can be locked away inside one institution or company. My daughter has participated in multiple academic studies and one drug trial, I don’t have access to share it to move hope forward.
In ultra rare disease, information becomes currency. Collaboration takes a back seat to competition.
That means a child can give everything and still not help future patients if the data is fenced in. Years of scans and speech tests can sit in a vault while others search for the same answers. Families are told to give time and hope. Behind the curtain, science can be treated as property, not a shared resource. That is unbearable when you have already given so much. I care about the whole lifespan, from preconception to end of life. Not everyone wants a drug or gene therapy. Many need better daily care and reliable coverage. Everyone needs honesty.
Informed consent needs reform
Families deserve plain language. Consent forms often say participation will advance science, yet the fine print may allow data to remain private. Ask sharper questions.
Will my child’s data be shared across institutions, or is it locked here. Will a universal research identifier be used so results can link without exposing identity. Will results be made public, or will they remain proprietary.
A practical tool exists. Clinical Research IDs, or CRIDs, let patients generate a unique identifier and share it with studies so data can be linked across projects without revealing personal information. Families rarely hear about it unless they know to ask. It is not perfect, but it helps.
Foundations also have work to do. When funding research, make data sharing and reuse a non negotiable clause. Without that safeguard, families risk sacrificing for studies that never move the field. In ultra rare, every data point is precious.
The federal model shows this is possible. Public grants carry open science requirements. That principle should extend to rare disease research no matter who writes the check.
C-Path’s promise and its limits
C-Path, the Critical Path Institute, is an independent nonprofit that grew out of FDA’s Critical Path Initiative to build public private partnerships that speed development through shared data and tools. That mission matters. Much of their work has delivered real, practical advances.
Sitting in the hall I also saw the limits. The patient voice is celebrated, then the conversation can drift into policy abstractions while time runs out. I am tired of being the mom who tells the story, only to see another mother in the same chair next year with no new solution on the table.
When I pressed for concrete answers, the room acknowledged the problems, then returned to high level frameworks. Buy in. Education. Participation fees for partners. Secure platforms that aggregate deidentified data. I have been told for years that this is the next “thing” that will be the answer. I want to believe. I am also allowed to ask for proof in practice, timelines, and costs. I look at public filings and tax documents because transparency builds trust.
Rare families cannot afford more applause without action. Will I leave with a concrete plan for galactosemia? What will it take? Who pays? How long? Will this arrive in time for this generation, in time for my daughter? Does what they say match up to the real time practice?
When every barrier becomes another burden
As an advocate you learn something new every day, and too often it becomes another brick to carry. For five years I have heard it is legislation, then FDA, then the patient voice, then the registry, then the data gaps. After this conference the new answer is public private partnership platforms. I believe in partnership. I also believe collaboration should not become a product that families must buy in order to be seen.
Who do we trust
Patients often see what professionals don’t admit: the baggage that comes when experts don’t get along. In galactosemia, I’ve watched professionals point fingers at one another. And who pays the price? The patients.
For families, this conflict is more than frustrating—it’s emotionally exhausting. We are left not knowing who is right or wrong, only that our community continue to suffer while time is wasted. Patients should never be forced into that position. We don’t need to witness the infighting or become part of it.
Academia protects intellectual property and publishes papers, but too often locks away data that could help others move the field forward. Industry listens, but only inside the narrow lane that drives a product to approval turning patients themselves into the “product.” FDA demands evidence that is nearly impossible to generate in ultra-rare conditions. Legislators write bills that stall while families run out of time.
In the end, patients are left holding broken promises. My mission is to empower patients to rise above that noise because collaboration should not come at our expense. The patient should be given the highest respect. They are the expert and should be treated as such.
When is it time to act
The rare community is told to be patient. Wait for more data, more validation, more collaboration. Children do not live on academic timelines. They live in bodies that cannot wait.
Biomarkers, surrogate endpoints like galactitol, gal1p are measurable and clinically meaningful to families, and yet acceptance remains uncertain. Partnership models promise that collaboration will come after frameworks are built and agreements are signed. C-Path just marked twenty years. My daughter is eight. She cannot wait another twenty.
How do we measure success
Success in rare is not abstract. It is a child who speaks a new word, a teen who avoids a seizure, an adult who keeps fertility. The system still defaults to rigid statistics, tiny placebo arms, and endpoints that do not match lived reality.
FDA measures success in p values, they have uncertainty on how to capture ultra rare. Industry measures success in market approval. Academia measures success in publications and grants. Patients measure success in survival and daily function. Until the system values that definition, ultra rare families will carry burdens we should not bear alone. Patient-centered approaches must start now. Patients should not sit at the bottom of the hierarchy, waiting for decisions made above them. They belong at the very top setting priorities, shaping research, and holding every stakeholder accountable
The human cost of delay
Every lost year is irreversible harm. In galactosemia each day without treatment risks more brain injury, more speech loss, more organ damage. The lifetime cost is real, much of it preventable. The numbers do not capture the daily reality. My daughter has had hundreds of appointments and many procedures, and she is only eight.
Families join research out of love and hope, not gain. To learn that sacrifices were trapped in a vault is devastating. It is why I cried that night. Not because I begrudged a celebration, but because I could not ignore the gap between celebration and our reality. It is why I took on our registries and pushed for patient control. This is not a product. It is a community’s life work.
From discussion to tangible action
Discussion educates and connects. It is not enough. The rare community needs outcomes we can point to and timelines we can track. Here is what should change now.
Universal use of patient controlled research identifiers so results link across trials and registries.
Transparent consent language so families know when data will not be shared beyond one holder.
Foundation responsibility to fund only when data will be shared and reusable.
Policy that extends open science requirements from federal grants to rare disease research more broadly.
Registry models that put patients in control, with clear options to share deidentified data across qualified studies.
A call to rare families
Your voice matters. Do not just participate. Shape the rules. Ask direct questions. Demand clarity. Refuse the status quo.
When someone says this is not how it works, remember, in rare disease nothing worked until families made it work.
Our children’s lives are worth more than champagne moments. Time is brain. Time is organ function. Time is everything.
No parent should ever cry in a hotel hallway again, realizing too late that their child’s sacrifice was treated as property and not progress.
Advocacy toolkit
Before you sign, ask if your child’s data will be shared beyond one project and if a universal deidentified ID will be used.
Push your foundation to require data sharing and reuse in every research contract.
Contact your representatives. Ask for NIH funding and FDA flexibility tailored to ultra rare.
When you fill out registry surveys, use the comment boxes to stress open collaboration and linkage across studies.
Teach another parent what to ask. The more families who understand the stakes, the stronger the push for transparency and accountability.
