Heleen Groen, 40, of Amsterdam, Netherlands, is an Alpha who has severe necrotizing panniculitis, a painful skin infection often accompanied by a rash, inflammation and skin ulcers.
She shares her experience of growing up with Alpha-1 and the long road to treatment here.
I was an energetic child, but when I was 6, my parents received a call from my school, telling them I couldn’t keep up anymore and was wandering off all day. My parents took me to the doctor; blood was drawn and within a few days I was hospitalized with a liver infection, or so they thought.
We saw every department of the University Hospital in Groningen, Netherlands, without correct diagnostic results. A resident who had worked with Alpha-1 patients in Boston became my savior. My blood was drawn, and a liver biopsy was taken and sent off to Harvard Medical School. A few weeks later we knew that I had a very rare genetic condition called Alpha-1, and being a ZZ was the worst possible outcome. I was told that nothing could be done, other then a strict diet and bed rest.
I have seen many doctors on my way to adulthood, and since most of them knew nothing about Alpha-1 they all told me different things, from dying young to never having children as that would cost me my life, to “we think you have outgrown it.” Yet I chose to have a great time growing up, attended college and moved abroad to start my career in Glasgow, Scotland and later moved back to Amsterdam to climb the corporate ladder.
Everything changed when I changed jobs in 2008. One of the biggest newspapers in the country offered me my dream job. During the first month, I pulled off starting early and working late, but noticed that I was getting more tired rather than invigorated, which was unusual for me. I felt like that 6-year-old girl again, and my condition resulted in my being let go from the job in order to get much needed rest (note that I’m in my seventh year of “rest” now!).
Soon after, I noticed a knot in my right upper leg and it grew dramatically in a few weeks. I went to my “old” doctor and he gave me the antibiotic doxycycline as he thought it was an infection. The treatment didn’t work, and instead I got worse. Then a dermatologist told me that I had Alpha-1-induced necrotizing panniculitis, an infection of the deeper parts of the skin. The only way to cure it was to give me infusions with the alpha-1 antitrypsin my body was failing to produce. He sent me back to the University Hospital in Groningen where I was originally diagnosed, because the local hospital was too small and without means for this expensive treatment.
While the dermatology department in Groningen was doing tests, including biopsies, my condition got worse. I started to get many more bumps and bruises over my entire body and in two weeks I gained 77 pounds. I felt my body was slowly shutting down, but the doctors told me again and again that I had the bloodwork of a 21-year-old, in spite of my progressing illness. I remained an outpatient and on my last trip to the hospital, I couldn’t walk anymore. There was no blood coming from my veins and I had to throw up constantly from the pain, but that was not enough to get me admitted.
My parents moved my bed to the living room and the pain at that time was so bad that our neighbors could hear me scream during the night from just moving my head. The next morning our doctor called an ambulance. On my way to the hospital my skin broke because of built-up fluids, so I literally was leaving a trail from my bed to the one at the hospital. Once admitted, they used extreme medical treatment to keep me alive. It took a month in Groningen to get more stable.
At that point, the hospital received a call from Leiden University Hospital that they had treated a patient with Alpha-1 and panniculitis before and were very interested in my case. I was admitted into Leiden for a month, but merely saw doctors in training and no treatment was given. I was told about this “liquid gold” infusion, which was the same infusion the dermatologist had told me about before. Over and over it was made clear that this would be the only treatment for me, so I wanted to do everything to get it.
I noticed a pattern: every hospital that came to the conclusion I needed expensive therapy would transfer me to another one. The last treatment offered to me was a liver transplant and when they scheduled me for testing, I broke. I knew that a liver transplant would shorten my life, and if these doctors didn’t want to fight for the best treatment, I had to do it myself. And I did.
I immediately contacted a professor in Germany and was elated that he was willing to see me on very short notice. I sent him every piece of information I had gathered all these years and a few weeks later I was sitting in his office in Munster. It took us a few months to convince my insurance company that augmentation therapy was the only way to get me treated. I received my first infusion a week before my 38th birthday, and only after a five-year battle.
Because of the major delay in treatment, it took time for me to heal and I needed a lot of surgeries to get necrotic tissue out of my body. I had 21 surgeries in 2013 and have lived in Germany ever since. I haven’t seen my home, friends and family in the Netherlands for one-and-a-half years now, since I cannot receive infusions in any Dutch hospital. So I am stuck in Germany until all my wounds are healed. I don’t know how long that will take.
What I do know is that without the help of my professor and the augmentation therapy I would not have been here to write my story. I am the living proof that augmentation therapy works and does what it was designed for: to protect Alpha-1 patients and slow down the process of getting ill. I hope that I can proceed with my therapy in the Netherlands in the near future until a cure for Alpha-1 has been found.