Story shared by Isabel
West Sussex, United Kingdom
My name is Isabel. I’m currently 21 years old, living in West Sussex, United Kingdom. I was diagnosed with dense deposit disease (DDD) 4 years ago when I was 17.
I remember the day like it was yesterday. I had a severely sore throat, which turned out to be strep throat. I was taken to my local hospital, and doctors ran all of the normal tests. They checked my temperature and my other vitals, and they also did a urine test. The results of the urine test showed that I had a considerable amount of blood in my urine. I had no other C3 glomerulopathy (C3G) related symptoms, so the urine test was the first sign that something was wrong.
That hospital ran additional tests and realized that I had low C3 protein levels as well as protein in my urine. It was becoming clear that there was something else going on in my body besides the strep throat.
A few weeks later, I was referred to the Evelina London Children’s Hospital. And I think that’s when it started to become real to me. It’s not every day that you get referred to the best children’s hospital in London, so when they did that, I knew it had to be something serious.
Up until this point, I had been a relatively healthy kid. Sure, I got sick every once in a while, but I had never had any serious health concerns—no chronic illnesses, no surgeries, or anything like that.
In the days leading up to my appointment at the children’s hospital, I was extremely nervous and apprehensive. It didn’t help that I still didn’t understand what was going on. Doctors were giving me little bits of information, but no one ever stopped to explain things to me. This was also all happening as I was preparing for final exams at school and applying to college. I was stressed about those to begin with, so this really just made my anxiety worse.
Once I began going to the Evelina London Children’s Hospital, it still took a few months of testing for them to come to a definitive diagnosis. I was having routine blood tests and was always asked if I experienced any swelling. Eventually, I was asked to do a renal biopsy. When this happened, I remember being terrified. This was my first real medical procedure, and I knew it was going to hurt. I remember sitting and crying in the room, not wanting to go through with it.
But the doctors were great and were able to explain everything to me. I was still extremely nervous, but I was able to get through it. Needless to say, it wasn’t a very pleasant experience. But this is what led to my diagnosis of DDD. As the doctor was telling me about the disease, he explained that, in my case, it had been dormant. That’s why I didn’t have any other symptoms besides abnormal lab tests. Because of that, he decided to not put me on treatment just yet. He said there were options we could explore when it became necessary.
For the next 2 years, I saw him every 3 to 4 months. He would always order more blood work, but it appeared that the disease was still dormant.
However, this changed right around the time I hit the 2-year mark. I had been living like a pretty normal teenager until I began noticing my jeans not fitting properly. Very quickly after I noticed that, the swelling got considerably worse. By the time I got home, I had lost all sight of my knees and ankles. My doctor warned me about swelling so I immediately knew that this was from the DDD.
Within minutes, I couldn’t bend my legs and I couldn’t walk. My dad called an ambulance, and we were transported to our local hospital, the same one that had treated me for the strep throat.
Based on the swelling, they immediately diagnosed me with a deep vein thrombosis (DVT) blood clot. My dad and I were both trying to explain that I had DDD, but no one was listening to us. They gave me injections of blood thinner and discharged me.
I was still having trouble walking, so as we were trying to leave, my dad was helping me and, suddenly, I collapsed. My dad told me that I was out cold for about 5 minutes. The receptionist hit the panic alarm, and a large team of doctors and nurses rushed in. I woke up in a hospital room being pumped full of fluids and wearing an oxygen mask.
At this point, they still weren’t listening to us about my diagnosis. I was there for 3 days while they ran arbitrary tests. Meanwhile they had me on painkillers but weren’t doing anything to reduce the swelling in my legs. Luckily, I’ve got a very persistent dad, and he eventually got them to transfer me back to the children’s hospital in London.
My routine doctor at the children’s hospital immediately recognized my symptoms. Doctors decided to do another renal biopsy, which was, again, rather unpleasant. But this time they decided to finally start me on a treatment plan for the DDD. I was put on a steroid, prednisolone; mycophenolate mofetil (MMF); and a blood pressure medicine, lisinopril. I was in the hospital for 12 days this time while they determined the right concoction of drugs. Throughout this nearly 2-week period, I was improving physically. But mentally, I was getting much worse.
Until this happened, my diagnosis hadn’t really affected my daily life. Sure, I had to go in for routine appointments, but they were pretty much all the same. When this flare up happened so suddenly, it was such a traumatic experience. Because the disease had been dormant for so long, I never expected that it would get this bad.
When I was cleared to go home after 12 days in the hospital, I was seen by a counselor to help me talk about my experience. I was having terrible anxiety because I was afraid something like this would happen again.
It was terrifying to think that I could be going about my daily life, and then so suddenly have another flare up.
Even after I went home, it took quite some time for me to finally feel like my old self. Initially, I completely shut myself off from family and friends. I lost all muscle definition in my legs, so I was in a wheelchair or on crutches most of the time. I was so frustrated by the whole situation and the realization that, at any moment, this disease could completely disrupt my life. But I knew I wasn’t going to let it stop me. I was in the process of applying to college. My dream had always been to get a teaching degree. I used this as my biggest motivation to overcome my disease.
About 8 weeks after being discharged from the hospital following my flare up, I began my college courses. It was extremely hard to leave my dad because he had been my biggest supporter throughout this whole experience. But he helped me get ready for school and to do what I could to be extremely prepared.
The first thing I did when I got to college was meet with the people whom I knew could act as my support network: campus counselors, security guards, advisors, etc. I explained my situation and my disease to each of them, including what symptoms to look for and what to do in the event of a flare up. Together, we came up with an action plan that I could rely on if I ever needed it.
In addition, I kept a folder with all of my appointment letters, my doctor’s contact information, and basic information about DDD. This way, if I ever ended up in another hospital, they could begin to understand my condition and determine how to properly treat me.
This level of preparedness helped me overcome my anxiety and learn how to live with this condition. It was liberating to meet new people at school and define myself as something other than the girl who has this terrible disease.
For the first time since being in the hospital, I felt like I was in control of my disease rather than it being in control of me. And I think that really helped me make new friends and make the most of my college experience.
It’s been 4 years since I was diagnosed with DDD. But now, I know that I’m not someone who suffers with DDD; I’m someone who has it. I’m not just a patient; I’m a college graduate. And, as of this year, I’m also a teacher.
My journey has had some bumps in the road and, of course, there were hard days. But I’m proud to say that I have not let it stop me from achieving my dreams.
Thank you for visiting WeC3GTM
You are now leaving the WeC3G.com website and being directed to a third-party website. Achillion Pharmaceuticals, Inc. is not responsible for the content of the site you are about to visit.
Would you like to continue?
Continued use of this site indicates you have accepted this policy.