Having a child with a rare disease fuels my passion for the promise of cell and gene therapies.

After 35 years in a career, I started experiencing what many professionals consider as “burn out.” That was 10 years ago. However, I fell into a role that exposed me to cell and gene therapy while working on logistic strategies for early phase clinical trials in oncology – unbeknownst this is precisely what renewed my interest and passion for work!

From an encounter with Dr. Carl June; hearing the story of Emily Whitehead and her family- it left an amazing and personal impact. I’m the mother of an adult child with a rare disease. I completely empathized with the promise of miracles this industry could provide to patients and their families: the ability to use the “C” word for a rare disease – CURE.

Ultra-rare diseases

My beautiful daughter Tanna has Type 3 Hereditary Angioedema. Hereditary angioedema (HAE) is a rare genetic disorder characterized by recurrent episodes of swelling of the skin and / or mucous, which can also affect the gastrointestinal tract and upper airways in a severe way. The crisis does not respond to antihistamines, corticosteroids or adrenaline and usually disappear spontaneously within 12-72 hours. There is a mutation in the gene that encodes the C1 inhibitor of the complement factor (INHC1), inducing a reduction in its synthesis (type I HAE) or the formation of a dysfunctional protein (type II HAE).

But – as is typical of my daughter, she couldn’t just have HAE! She had to have the rarest form of HAE – Type 3. In 2000, a new subtype of HAE was identified that is clinically indistinguishable from the others and predominantly discovered in women where INHC1 is normal. The new disorder was called hereditary angioedema type III, estrogen-dependent hereditary angioedema or hereditary angioedema with normal C1 activity (type III HAE). And, we’ve now been dealing with it for 43 years!

Years and years of misdiagnosis and hundreds of trips to the emergency room is often typical

It wasn’t until 2002 that we received a proper diagnosis for Tanna’s condition. She was 24 years old and had her very first external swelling episode. She was driving from Houston back to her home in Colorado when her lips started to sting – her tongue started to swell – and then her lips became swollen beyond its normal state. She was about 2 hours outside of Denver in the middle of nowhere and called 911. They immediately dispatched her to a local hospital in Denver and started administering her with steroids (the exact opposite of what she needed!). This treatment option was non responsive; they started testing afraid her airway was going to close. It was something of a miracle that an ER doctor on call had just read an article on HAE – and recognized this could be the problem. After testing, rescue meds were administered and she ultimately left the hospital for the first time with an accurate diagnosis!

In the earlier years, Tanna’s swelling started internally. Starting around age eight, she would complain of stomach issues that would cause her to cry and appear to be in agonizing pain. We’d rush to the ER – where doctors could not find anything wrong with her. Doctor after doctor was consulted. But the extreme episodes happened numerous times a year; at one point when she was in her adolescence, I was told she was a hypochondriac seeking attention and they suggested psychological counselling. She insisted the pain was real! So we went on with intermittent ER visits where she would enter the hospital and go through tests – and the pain would go away.

Imagine how we felt years later – finally realizing she actually had a rare disease that was indeed causing internal swelling and pain – and that it was treatable!

Ongoing drug shortages – Challenges in finding knowledgeable experts

While the first, most important hurdle of proper diagnosis was crossed – there are still ongoing challenges with rare diseases. For HAE, there are only a handful of doctors who specialize in the disease and physician education and awareness is critical. Over the years, there have been international, US and social media foundations and groups organized in an effort to both create awareness and provide resources for patients, physicians and caretakers. It’s been a huge asset for us to have access to information and resources. Access to the right medications can be a struggle as there are often shortages of some of the treatments. Tanna self infuses once a month and has actually trained her 11 year old daughter to administer a rescue med should her airways begin to close.

Living a full life with a rare disease

Today, Tanna is a mother of 2 daughters and an ICU charge nurse. Since March 2020, she has worked in Houston running a Covid-19 ICU at a hospital organized to treat the inner city/urban community. She only lives 6 blocks from me – which she will tell you is both a blessing and a curse! But the grandgirls love that they can walk to Mimi’s house for pancakes every Saturday morning!

The promise of cell and gene therapy

As I mentioned above, I personally found my “calling” in cell and gene therapy. I joined ICON a year and a half ago specifically because of the work being done in CGT. I had been working with all CRO’s and was so impressed with the ICON Cell and Gene Therapy Center of Excellence I called ICON to see if there was a place for me. ICON can be very proud of the reputation and the services being provided for these programs to address unmet needs – to help bring the promise of cures and treatments to these patients!