Two and a half years — that is how long it took for the Roublick family to learn that their daughter Nicole had an extremely rare condition called autoimmune lymphoproliferative syndrome (ALPS). Two and a half years of visiting doctors, undergoing testing, and searching for an answer. Two and a half years of grief and isolation, of fear and concern. And yet, looking back, Laura Roublick can’t help but see that there was something else that arose from Nicole’s journey: hope.

Nicole is now 23 years old. Though life may not have turned out exactly as the Roublicks thought, they have carved out a path that works for them. They have found doctors to help, advocated for awareness, and connected their community. A rare disease diagnosis can often feel overwhelming and isolating, but Laura has found ways to not only champion and honor her daughter’s story, but reach out to others who are faced with this diagnosis. As Laura says:

“I’m scarred from this—you can’t not be—but there’s also hope. There are also good things.” 

Over the last twenty-three years, Laura has become a fierce advocate—not just for her daughter, but for the other families and people affected by rare diseases. Recently, she sat down with Patient Worthy to discuss Nicole’s journey, what we know about ALPS so far (and how they helped “write the book”), the search for a treatment, and advice for others who are searching for hope in their own lives. 

Nicole’s Story

Although Laura was excited beyond measure for her daughter Nicole’s birth, there were also some nagging concerns. As many new, first-time parents know, when you bring your child into the world, you want to give them the best life imaginable; you want them to be healthy, happy, and safe. And Laura knew that she would do whatever it took to ensure that Nicole was loved and taken care of. 

Within her first year of life, Nicole showed signs of some underlying health issues. After various testing and trips to the doctor, Nicole was diagnosed with hereditary spherocytosis, an inherited blood disorder. But Laura wasn’t convinced (call it mother’s intuition). She shares:

“I had everyone in the family tested but nobody else had it, so the thought that it could be hereditary didn’t sit with me. So I fought back and said that I didn’t believe she had this disorder. That began our journey for an actual diagnosis. It was difficult, especially as Nicole’s condition worsened. She was IVIG dependent and blood-transfusion dependent.” 

This process was mentally and emotionally taxing and, as many people within the rare disease community know, isolating. When you have a child, you picture everything about their life, all of their happy moments. But Laura didn’t expect to have her child in the hospital all of the time or how isolating it could be. Laura struggled to talk about Nicole’s health odyssey with her friends, sharing:

“I would stay in the hospital for weeks on end. My friends were having kids and I didn’t want to speak to anyone. My husband would tell me that a friend wanted to take me to lunch, but I didn’t want to go. I didn’t want to talk about it. To this day, I still have some great friends but until they’ve faced death, they can’t understand.”

Pursuing a Diagnosis

Laura decided to transform her pain into impact. She pored over research, searching for someone who might be able to help. For every doctor, hematologist, or oncologist that seemed like a good fit, Laura sent over Nicole’s paperwork and test results. Then she waited.

One afternoon, Nicole was waiting to get admitted for a blood transfusion when Laura received a phone call. Laura recounts:

“The doctor said, ‘Your daughter is very sick. I know she doesn’t have hereditary spherocytosis, but she is very sick, and I don’t know what it is.’”

Once again, the family was launched into a journey fraught with multiple tests, visits to the NIH, and more. After a year-long odyssey, and when Nicole was two and a half years old, the doctor came back with the diagnosis: autoimmune lymphoproliferative syndrome (ALPS). Says Laura:

“All I could think to myself was that she must have cancer. To this day, I remember being in the room with the doctor and asking if it was cancer. The doctor told me, ‘No. If she had cancer, we would know how to treat it. We’d follow the protocol. For this, there is no book. Your daughter is going to be writing the book.’”

What is Autoimmune Lymphoproliferative Syndrome (ALPS)?

The NIH’s National Institute of Allergy and Infectious Diseases (NIAID) describes autoimmune lymphoproliferative syndrome as: 

“a rare genetic disorder of the immune system first described by NIH scientists in the mid-1990s that affects both children and adults. In ALPS, unusually high numbers of white blood cells called lymphocytes accumulate in the lymph nodes, liver, and spleen and can lead to enlargement of these organs.” 

FAS gene mutations cause ALPS in around 75% of affected individuals. Normally, FAS instructs the body to create a protein that results in apoptosis (cell destruction). When the immune system produces large numbers of lymphocytes (a type of white blood cell) to fight infection, these cells usually undergo apoptosis when no longer needed. In ALPS, apoptosis does not occur, causing an accumulation of excess lymphocytes. 

For non-classic ALPS, other mutated genes may be implicated, though these have not all been identified. Nicole does not have hereditary ALPS; her form is considered somatic, and doctors are unsure when or why it develops. She is only one of five people with somatic ALPS and the only girl in that group. Somatic ALPS is considered the rarest strain. 

Doctors and researchers believe that there are around 500 people living with ALPS worldwide.

ALPS Symptoms

ALPS is a variable condition. Some individuals have no symptoms and others, like Nicole, are affected more severely. Symptoms associated with ALPS can include: 

• Enlarged spleen, liver, and lymph nodes 
• Fatigue and general weakness 
• Skin rashes
• Anemia (low red blood cell count)
• Neutropenia (low neutrophil count)
• Thrombocytopenia (low platelet count) 
• Increased risk of infections 
• Fatigue and general weakness
• Easy bruising and bleeding
• Increased risk of lymphoma
• Autoimmune disorders such as Guillain-Barre syndrome, uveitis, autoimmune hepatitis, or glomerulonephritis

As Laura explains it:

“Your body is swollen, and your blood counts are all over the place. Mentally, it plays games with you because you don’t know what way you’re going. We’ve visited the doctor thinking that Nicole is fine, and she’s ended up in the ICU. ALPS is a rollercoaster ride and a very nauseating one that you want to get off of, but you can’t. We’re still on that rollercoaster, but it’s going more slowly now as we figure things out.”

Join us in Part 2 as we discuss the search for an ALPS treatment, “writing the book,” and the fight to raise awareness.