Rare Community Profiles

Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.

This Rare Family is Managing CVID, MS, UC, and Double Cortex Syndrome: Here’s How You Can Help

Karen Sam is searching for a miracle. 

As many people within the rare disease community know, a rare disease diagnosis comes with a host of emotional, psychological, physical, and financial burdens that a family must bear.

In Karen’s case, she has received a number of rare disease diagnoses, many of which her doctor believes are linked to her Common Variable Immune Deficiency (CVID). But her family’s situation became more complicated when Karen’s daughter Harper was also diagnosed with a rare condition called Double Cortex Syndrome, or subcortical band heterotropia. 

Right now, Karen and her family are facing some financial difficulties that may make it difficult to remain in their home and have necessary medications delivered after May 2023. She shares:

“I don’t think enough people realize how hard it is living with a chronic rare condition, especially when it’s not detectable to the naked eye. It isn’t fair that in some cases, we must choose between financial or medical death. I hope one day, nobody will have to make this choice.” 

Recently, Karen spoke with Patient Worthy about her family’s story and her GoFundMe to help the family. If you’d like to do so, you may donate here. 

Karen’s Story

As a small child, colds lingered. Coughs racked her body for weeks, sometimes months. Karen explains it as:

“The kind of sick that lands you in the hospital for a couple of weeks, over and over again. I had pneumonia, the flu, asthma, bronchitis, unexplained diarrhea and vomiting, scarlet fever, and, even though I had been vaccinated against it, measles. Whatever I got, I got in a bad way. It was very isolating.”  

The older Karen got, the more she had a nagging feeling that there was something deeper going on. Even as she graduated high school, she felt hesitant about continuing to college, concerned that her health wouldn’t allow her to finish. 

Instead, she began working in retail. She loved the feeling of achievement, and especially loved getting to interact with so many people. Still, she felt stifled by her fatigue and health issues, often having to call off of work. 

One day, she made a commitment to a coworker: she would go out, play pool, and have an enjoyable night off. Karen never knew that this night would change her life forever. It would be the night she met Robert (Bob), her future husband. 

At the time, Bob was 20 and Karen was 21. Prior to meeting him, she had never wanted to be married. But she fell madly in love with this man and his kindness, empathy, and gentleness. Karen’s family warned him that she was sick, but his devotion never wavered. When she was diagnosed with Bell’s palsy, Bob visited every night to tape her eye shut for bed. 6 months later, Bob and Karen married at the courthouse, not wanting to spend another second alone without the love of their life. 

Bob also became a fierce advocate for Karen, often visiting doctors with her. Although nobody had an answer, there was one thing that doctors made clear: it would be highly unlikely for Karen to have children. She says:

“It was devastating to hear that there was another thing I would fail at because of my illness.” 

But 10 years later, life changed again. Karen was diagnosed with multiple sclerosis (MS). When it came time to do an MRI, Bob had a weird feeling; he asked Karen to take a pregnancy test. She laughs as she says:

“Truthfully, I thought he was nuts. But I took a test to appease him. Miraculously, it came back that I was pregnant. I had gotten a diagnosis and a daughter. It was a miracle. On top of that, somehow, I never felt healthier than throughout my pregnancy.” 

Having Harper

May 20, 2009: a day that would go down in history. The birth of Bob and Karen’s beautiful baby girl, Harper. 

At first, everything seemed perfect. Harper seemed healthy and happy, a bright little girl with a contagious smile and a silly, but kind, demeanor. Karen also felt healthier than ever before. For once, she thought, everything was going right. The family even purchased a home. 

But within a year of Harper’s birth, Karen’s health declined: vision issues, pain, chronic diarrhea. Then when Harper turned two years old, she was eating with Bob when she suddenly went limp. A visit to the ER found no answers, nor did a CT scan. The doctors told the family that Harper was just being a goofy little child. Later, Harper went limp again on the toilet, falling and hitting her head. Says Karen:

“She had this weird euphoric look on her face and was non-responsive. We went to a different hospital for tests, which verified that Harper had epilepsy. But her brain didn’t show any other abnormalities. We started her on seizure medication, but her seizures worsened, so the doctors kept removing and adding medicine to see what would work.” 

Eventually, Bob—ever the advocate—went back to the doctor and demanded an MRI for his daughter. A few days later, doctors told the parents that Harper had double cortex syndrome, that they would talk about it next week, and that Bob and Karen could research on their own in the meantime. They pursued multiple opinions and genetic testing; although Harper doesn’t have the specific gene mutation that is most often associated with double cortex syndrome, doctors have agreed that she has it. Karen shares:

“She may be the only person in the world right now that has double cortex syndrome without the known gene mutations.” 

A Continued Diagnostic Journey

The day after Christmas, when Harper was 5, Karen was admitted to the hospital with confusion, dizziness, and periodic bouts of unconsciousness. Tests showed that her body was in septic shock with multiple organ failures. It took weeks, but Karen pulled through. It was at this point that doctors began taking her health issues more seriously, running more intensive and comprehensive tests. Throughout this, Karen was diagnosed with:

• • Ulcerative colitis (UC)
  • Graves’ disease
  • Hashimoto’s disease 
    • Note: Karen shares: “Hashimoto’s disease is supposedly not possible with Graves’ disease, but my doctors have said that I’ve managed the impossible.” 
  • Thyroid eye disease 
  • Rheumatoid arthritis

Because of her collection of conditions, Karen was referred to an immunologist. Bloodwork and a vaccine challenge showed a very clear diagnostic: common variable immune deficiency (CVID). In fact, says Karen, one doctor mentioned that her other conditions may be a result of CVID; as research shows, an estimated 25%+ of people with CVID have other autoimmune conditions. 

What is Common Variable Immune Deficiency (CVID)? 

Common variable immune deficiency is a type of primary immune deficiency (PI), a disease that impairs the immune system. 13 genes have been associated with CVID—but these genes only cause 10% of cases. The other 90% are idiopathic (without a known cause) and doctors believe that the condition results from a blend of environmental and genetic factors. In a majority of cases, there is no family history of CVID. 

Symptoms of CVID typically appear between childhood and adulthood. These may include recurrent pneumonia; ear, nose, and sinus infections; diarrhea; unintentional weight loss; enlarged spleen and lymph nodes; giardiasis; nausea and vomiting; and an increased risk of gastric cancer. 

A multidisciplinary approach can aid in CVID management. Treatments include immunoglobulin therapy, antihistamines, and antibiotics. Right now, Karen receives infusions every other week for her CVID, as well as other medications for her other conditions. 

The Family Today

Karen admits:

“I sincerely can’t say that I remember ever feeling great. I’ve constantly struggled with fatigue, nausea, and weakness. In chronic illness, we use spoons to represent how much energy we use and have. I use all of my spoons to appear as normal as possible for my husband and daughter. But there are a lot of days when I’m having a hard time. I feel guilty sometimes that I can’t do more or contribute more. Since my CVID diagnosis, we have lost every dime and asset to take care of these medical bills. It’s not fair to my daughter or to my husband, who has given up everything to take care of us. His life consists of caring for us, running errands, and taking care of the home. We gave up everything to keep me alive, but we have no way of knowing how quickly I’ll be affected if we don’t have a home or I can’t do infusions. I’m petrified of not being here to help my daughter through her own struggles.”

To keep herself busy, and to keep her mind from focusing on these potential issues, Karen spends time knitting, taking care of her pets and plants, and hanging out with Bob and Harper. When it comes to Harper’s health, Karen says that there are still many questions, noting:

“The brain is so complex and there is so much we still don’t know. So even though they’ve identified her Double Cortex Syndrome, we’re just scratching the surface as to what that means. For now, she is taking Epidiolex, which seems to have tamed her seizures. It doesn’t seem to have harsh side effects, but the Depakote does, which is hard for her.”

Karen shares that Harper’s condition has delayed some of her learning. It’s hard for Harper to retain skills like reading or math; she also struggles with chronic headaches, fatigue, memory issues, poor balance, impaired motor skills, and low muscle tone. Without reminders, she forgets to take her medicine. Karen notes that it may be hard for Harper to ever live independently. 

Despite the obstacles she has faced, Harper remains bright, bubbly, and kind. She loves music and listens to everything from ABBA and Elvis to Michael Jackson and Boy George to Harry Styles. Harper also loves animals—part of the reason why the family ended up with their mini-zoo of their 4 cats, 2 dogs, and parrot. 

Karen hopes that her GoFundMe will help garner some funds to help the family through the coming months: a stable car and home so that Bob can return to work and start a business, better support and resources for Harper and Karen, and necessary medications. 

If you are also living with MS, CVID, UC, or any of the other conditions, parenting a child with Double Cortex Syndrome, or a researcher in any of those fields who would like to connect with Karen, please email [email protected] and she would be happy to facilitate a connection.