Finding Hope Through the Storm: A Mother and Son’s Journey with a Chronic Rare Disease
(BPT) - Ben, a 28-year-old from Mount Airy, Maryland, has lived with primary immunodeficiency (PI) - a rare, lifelong condition in which part of the body's immune system is missing or functions improperly - for as long as he can remember. As a child, Ben was constantly sick, battling infection after infection and spending more time in the hospital than on the playground.
"I held him upright all night, just so he could sleep," his mother, Traci, recalls. "It was the only way he could breathe."
For years, doctors couldn't figure out what was going on. Finally, an Ear, Nose and Throat (ENT) doctor suspected an immune system disorder, ordered blood tests and recommended seeing a pediatric immunologist. Ben was diagnosed with common variable immunodeficiency (CVID), a more common form of PI, at age 5.
"The doctor looked me in the eyes and said, 'Your son is very sick. I don't know how you've kept him alive, but you did,'" Traci remembers.
PI, a Rare Chronic Disease
People living with PI have weakened immune systems, making them more susceptible to frequent, long-lasting, hard-to-treat or severe infections. Infections may not go away or can come back often, even with the use of antibiotics. Complications can include fevers, long-term permanent organ damage and even premature death.
There are more than 550 types of PI. While 250,000 individuals in the U.S. have been diagnosed, experts estimate >70% of individuals with a PI remain undiagnosed. PI often goes undiagnosed or untreated because the symptoms are not unique and can manifest in many different ways. In fact, it can take more than 10 years for a diagnosis.
Finding the Right Treatment
Treatment for PI varies, depending on the type of PI. However, PI is commonly treated with immunoglobulin (Ig) therapies. Ig therapies are a type of treatment infused into the body to replace Ig antibodies that help the body fight infection but are missing in certain people with PI.
Ben began treatment with an intravenous immunoglobulin (IVIg) therapy - a medicine infused into a vein - that needed to be given at an infusion center. The treatment helped, but it meant time away from school and friends.
Later, Ben's doctor suggested a switch to Hizentra, Immune Globulin Subcutaneous (Human) 20% Liquid, a prescription medicine used to treat PI in patients 2 years and older, and the first and only Ig therapy available in convenient prefilled syringes. As it is infused just below the skin (subcutaneously, into fatty tissue), those with PI can self-administer their treatment after training from their healthcare provider.
Transitioning to Hizentra gave Traci and Ben more freedom to manage his condition at home. After consulting with his doctor, Traci learned how to administer Hizentra to Ben on a schedule that worked best for their lives, helping Ben to attend school more regularly and start to see the possibility of a life not dominated by his illness. With more frequent, self-administered dosing, Ben was able to better regulate the highs and lows of his Ig levels, helping reduce symptoms like fatigue and headaches between infusions.
"I was relieved we had an option like Hizentra and that PI no longer completely dictated our daily schedules," says Traci.
A Surprising Diagnosis
A few years after Ben's diagnosis, Traci learned she had PI too. She had been getting sick often but had ignored the signs to care for her son and put her own health on hold.
"I always knew, deep down," she says. "But when you're a caregiver, you put yourself last."
Now, both Traci and Ben take Hizentra to manage their PI, allowing them the freedom to live full lives while still prioritizing their health.
Helping Others
Empowered by her experiences, Traci started sharing their story at advocacy events with the PI community.
At one event, Ben joined her and met others living full, thriving lives with PI - photographers, yoga instructors, even a professional dirt biker. It opened his eyes.
"That was the beginning of my healing," Ben says. "I saw that I wasn't alone."
"I would love to encourage other people with PI to find a treatment that works for their life," Ben continues. "Everyone's experience is going to be different, but there are solutions out there. You just have to find what works for you."
Today, Traci and Ben are thriving. Ben is married, working and slowly becoming more open about his journey. He still only lets one person give him his treatments - his mom.
If you believe you could have a PI or would like to learn more about PI, talk to your healthcare provider for more information and visit www.Hizentra.com.
Important Safety Information
WARNING: Thrombosis (blood clots) can occur with immune globulin products, including Hizentra. Risk factors can include: advanced age, prolonged immobilization, a history of blood clotting or hyperviscosity (blood thickness), use of estrogens, installed vascular catheters, and cardiovascular risk factors.
If you are at high risk of blood clots, your doctor will prescribe Hizentra at the minimum dose and infusion rate practicable and will monitor for signs of clotting events and hyperviscosity. Always drink sufficient fluids before infusing Hizentra.
See your doctor for a full explanation, and the full prescribing information for complete boxed warning.
Hizentra, Immune Globulin Subcutaneous (Human), 20% Liquid, is a prescription medicine used to treat:
- Primary immune deficiency (PI) in patients 2 years and older
- Chronic inflammatory demyelinating polyneuropathy (CIDP) in adults
Treatment with Hizentra might not be possible if your doctor determines you have hyperprolinemia (too much proline in the blood), or are IgA-deficient with antibodies to IgA and a history of hypersensitivity. Tell your doctor if you have previously had a severe allergic reaction (including anaphylaxis) to the administration of human immune globulin. Tell your doctor right away or go to the emergency room if you have hives, trouble breathing, wheezing, dizziness, or fainting. These could be signs of a bad allergic reaction.
Inform your doctor of any medications you are taking, as well as any medical conditions you may have had, especially if you have a history of diseases related to the heart or blood vessels, or have been immobile for some time. Inform your physician if you are pregnant or nursing, or plan to become pregnant.
Infuse Hizentra under your skin only; do not inject into a blood vessel. Self-administer Hizentra only after having been taught to do so by your doctor or other healthcare professional, and having received dosing instructions for treating your condition.
Immediately report to your physician any of the following symptoms, which could be signs of serious adverse reactions to Hizentra:
- Reduced urination, sudden weight gain, or swelling in your legs (possible signs of a kidney problem).
- Pain and/or swelling or discoloration of an arm or leg, unexplained shortness of breath, chest pain or discomfort that worsens on deep breathing, unexplained rapid pulse, or numbness/weakness on one side of the body (possible signs of a blood clot).
- Bad headache with nausea; vomiting; stiff neck; fever; and sensitivity to light (possible signs of meningitis).
- Brown or red urine; rapid heart rate; yellowing of the skin or eyes; chest pains or breathing trouble; fever over 100°F (possible symptoms of other conditions that require prompt treatment).
Hizentra is made from human blood. The risk of transmission of infectious agents, including viruses and, theoretically, the Creutzfeldt-Jakob disease (CJD) agent and its variant (vCJD), cannot be completely eliminated.
The most common side effects in the clinical trials for Hizentra include redness, swelling, itching, and/or bruising at the infusion site; headache; chest, joint or back pain; diarrhea; tiredness; cough; rash; itching; fever, nausea, and vomiting. These are not the only side effects possible. Tell your doctor about any side effect that bothers you or does not go away.
Before receiving any vaccine, tell immunizing physician if you have had recent therapy with Hizentra, as effectiveness of the vaccine could be compromised.
Please see fullprescribing information for Hizentra, including boxed warning and the patient product information.
You are encouraged to report negative side effects of prescription drugs to the FDA. Visit www.fda.gov/medwatch, or call 1-800-FDA-1088.
You can also report side effects to CSL Behring's Pharmacovigilance Department at 1-866-915-6958.
Hizentra is manufactured by CSL Behring AG and distributed by CSL Behring LLC.
Hizentra® is a registered trademark of CSL Behring AG.
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