October 2025   Recently updated !

October 2025 SCIDFoundation.org

In this issue, you’ll meet Lia, a high school junior who recently underwent a bone marrow transplant for SCID years after being diagnosed as a toddler, and her brother Nick, who received his transplant 15 years ago. 

You’ll also find Part 3 of our Understanding Clinical Trials series, which focuses on what to do once you’ve found a promising clinical trial, along with details on October’s chatSCID to help you approach the holiday season with less stress, clear boundaries, and confidence in advocating for your child or yourself. Don’t miss any of these inspiring and informative articles.

Lia is conducting her junior year of high school online. If all goes as planned, she will attend school in person for her senior year. Her plans for the future include studying at a college close to home. 

Outside of school, her biggest passions include cooking and baking. Her dream is to start her own baking business one day. For now, she spends hours in her home test kitchen, experimenting with recipes and perfecting her creations.

Meet: Lia and her brother Nick

By: Lia, SCID Patient

My name is Lia. I was born in 2008, before the state of Massachusetts added Severe Combined Immunodeficiency (SCID) to the standard newborn screening panel. Because SCID newborn screening wasn’t available yet, no one realized I had SCID until much later.

In the first few months of my life, my parents noticed that something wasn’t quite right. I had persistent skin issues, including recurring yeast and fungal infections. That started a lengthy journey of doctor appointments, testing, and uncertainty. Finally, I was diagnosed with SCID.

At the time of my diagnosis, my mom was pregnant with my younger brother, Nick, and my parents made the decision to save his cord blood in the hope that it might be used to treat me. While we waited, my doctors at Boston Children’s Hospital started me on IVIG (intravenous immunoglobulin) infusions to support my immune system.

By the time Nick was born, Massachusetts had finally added SCID to the newborn screening panel. Unfortunately, his results showed that he also had SCID. In fact, Nick was the first baby in the state to be identified through SCID newborn screening.

Nick’s transplant progressed quickly. At just 7 weeks old, he was admitted to Boston Children’s Hospital and spent another 7 weeks inpatient. He received his BMT (bone marrow transplant) in 2010 from a 9/10 matched unrelated donor. Thanks to early detection and swift treatment, Nick is now 15 years old, healthy, and thriving.

My journey, however, looked very different. After my initial diagnosis, doctors determined that I had “leaky” JAK3 SCID, a form of the disease where parts of the immune system function, but at very low levels. Because I had some immune function and was responding well to IVIG, my medical team felt comfortable monitoring me closely rather than rushing into transplant.

For the next 15 years, I continued with regular IVIG infusions, and to everyone’s surprise, I remained relatively healthy. I fought off illnesses like the flu, COVID-19, and even minor infections without major complications. My family and I grew used to living with SCID as a chronic condition rather than a crisis.

That changed about a year ago, when I encountered Epstein-Barr Virus (EBV). Although I didn’t show symptoms, EBV can be dangerous, even life-threatening, in people with compromised immune systems. Combined with signs of my declining immune system, EBV was the concern that pushed my doctors to move forward with a transplant.

In July 2025, I received my stem cell transplant at Boston Children’s Hospital. Thankfully, the procedure went smoothly, and I have avoided any major complications. After 30 days inpatient, I was discharged home, with weekly clinic follow-ups.

Looking back, I’m deeply grateful — for my family, who never stopped fighting for me; for my brother, whose early diagnosis helped improve newborn screening for other babies; and for the amazing doctors and nurses, especially Dr. Prockop, who guided me through every step of this journey.

My story isn’t over yet. But if there’s one thing I’ve learned, it’s that even with SCID, there’s always hope, resilience, and a future worth fighting for.

What to Ask, What to Expect, and How to Weigh the Risks

In Parts 1 and 2 of this series we looked into the basics of what a clinical trial is and how to find one. So, you’ve found a clinical trial that looks promising, now what? In this final part of our series, we’ll walk you through how to make contact, what to expect, and how to evaluate whether joining the trial feels right for your family.

Reaching Out to the Research Team

When you find a trial that interests you, don’t be afraid to reach out. Each study will list a contact person (usually a study coordinator).

What to Consider Before Joining a Trial

Before enrolling, it’s important to understand what the trial involves. Here are a few questions to ask the research team or investigator:

• What is the purpose of the trial?
• Will some participants receive a placebo?
• Does my child (or do I) qualify for the trial?
• How many patients have been treated to date?
• How many patients do you expect to treat?
• Based on the study criteria, what is considered a successful treatment?
• What are the risks and possible side effects?
• How do the risks and side effects of this trial treatment compare to those of any existing approved treatment (if one is available)?
• Will we have to travel? If so, is financial help available?
• How long is the patient expected to participate in the study, and how much of that time will require hospital stays?
• What happens if the treatment doesn’t work?
• Can we leave the trial at any time?
• Will we still get medical care after the trial ends?

These questions will help you feel informed and confident in your decision.

What to Expect During a Clinical Trial

Every trial is different, but here are some common features:

• Screening: You’ll go through tests to see if you qualify.
• Informed Consent: You’ll get a detailed explanation of the study and be asked to sign a form saying you understand the risks.
• Treatment or Observation: Depending on the trial, you may receive the treatment being studied or a comparison treatment (like a placebo). You may be required to visit the hospital or clinic regularly or remain hospitalized.
• Follow-up: You may have regular check-ins, blood tests, scans, or questionnaires.

Some trials last a few weeks. Others may take months or even years. The research team should explain what’s involved so there are no surprises.

Weighing the Risks and Benefits

Like any medical decision, joining a clinical trial has pros and cons.

Benefits:

• You may get a treatment that isn’t available anywhere else, sometimes months or years before approval.
• Participants are often closely monitored by specialists and research teams familiar with your condition.
• If current treatments aren’t working or don’t exist, a trial could offer a new opportunity.
• Your participation helps researchers learn more, which could lead to better treatments for others in the future.
• Even if the treatment doesn’t help, the data your participation provides may lead to breakthroughs later on.
• Some trials cover travel, lodging, testing, or treatment costs.

Risks:

• Because the treatment is still being studied, there may be unexpected side effects which can be mild or serious.
• Not every participant improves, and sometimes the new treatment doesn’t help at all.
• In some cases, unforeseen complications may arise. 
• You might need to travel to a specific hospital or research center, often more than once.
• Some trials require more bloodwork, scans, or check-ins than standard care.
• In some trials, participants are randomly assigned to different groups, like a treatment group or placebo group, which means you may not receive the treatment being tested.
• Insurance might not cover certain costs related to the trial. It’s important to ask what’s covered and what’s not.
• It can be emotionally difficult to enter a trial, especially if there’s uncertainty or if outcomes don’t go as hoped.
• Your medical information may be included in published research papers, but it will always be anonymous.

The choice is deeply personal, and there’s no “right” answer. But with good information and support, families can feel empowered to choose what is best for their situation.

You’re Not Alone

Navigating clinical trials can be confusing and emotional. But you don’t have to do it alone. Reach out to your care team. Consider contacting physicians at other institutions. Most physicians who work with a rare disease community are available to consult with rare disease patients and families. Connect with advocacy groups. Ask questions, even the tough ones. Your voice matters.

By exploring trials, you’re not just looking for answers, you’re helping shape the future of care for yourself or your child, your family, and the rare disease community.

chatSCID is a monthly one-hour virtual meet-up designed for SCID caregivers and adult patients at any stage of their journey.

Topic: Get ahead of the holidays: Prep for a stress-free season

When: Tuesday, October 21st, 7pm EDT | 6pm CDT | 5pm MDT | 4pm PDT

The holidays can be a joyful time… but they can also be overwhelming, especially when you’re navigating medical needs, extended family expectations, and the pressure to “make everything perfect”.

Hosted by: Cynthia Cutshall-Kisik

Cindy is an active member of the SCID community as an adult patient living with ADA-SCID. Cindy works in the pediatric and adult home health communities as a Certified Occupational Therapy Assistant and is a volunteer with her local chapter of NAMI, the National Alliance on Mental Illness.  

Registration is free and open to all SCID families. Come join a community built on support, learning, and encouragement. Registration is required in advance, but is FREE.

Every day, the SCID Foundation stands beside families facing the life-altering challenges of Severe Combined Immune Deficiency. Through education, advocacy, awareness, and financial assistance, we help lighten their load and ensure no one faces SCID alone.

We are the only organization dedicated exclusively to supporting SCID families—and the need continues to grow. Without additional support, our scholarship funds could soon run short, leaving families without the help they depend on.

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