A rare disease diagnosis changes your life. As I look back on eight years of twin anemia polycythemia sequence and its impact on my girls, I also have to reflect on how it changed me. Before twins, before TAPS, I was a hyper-organized, corporate type with a love of planning, agendas, and lists. Post-it notes were my life. I planned. I was organized, and I knew what I wanted.
A rare disease throws you off balance, into a turmoil of emotions and chaos. It’s like that proverbial sinking ship – you learn to swim fast, or you’re in danger of drowning. How we respond to the news and the challenges defines how we cope and move forward, and advocate for our future and those around us.
A Diagnosis Can Bring Joy
After a miscarriage, there is nothing more terrifying or exciting than a positive pregnancy test. This is what happened to us – after a tragic miscarriage the year before, we discovered we were expecting twins. The fear was real, but the joy was there that we were finally going to start our family. We knew there were risks, but we also were just amazed at our good fortune.
This part of the diagnosis brought me joy – the gift of a surprise.
A Diagnosis Can Be Devastating
At 24 weeks, we were diagnosed with twin-twin transfusion syndrome and also alongside it, TAPS. The news wasn’t good; we were told that there was a chance our babies could die from either disease. The information gutted us, as we’d already been through loss with the miscarriage, and now we were facing a similar disappointment.
In this part, I learned that disappointment isn’t a one-off experience.
A Diagnosis Can Be Filled With Frustration
While our TTTS did resolve, the TAPS stayed, and we were told that it was simply watching and waiting. There wasn’t a lot of information out there, and that while they were aware that it could cause some complications, there was not a lot known about long-term effects.
There was also no consensus on what the best treatment for TAPS was. So we watched, waited, and became frustrated with what we thought was not a lot of answers.
Here I learned that sometimes there isn’t an answer for everything, and while this is frustrating, it’s out of our control.
A Diagnosis Can Mean Learning To Be Patient
Watching and waiting meant we just had to be patient. All my previous life obsession of being organized and wanting to take control was suddenly taken away. We were at the mercy of the disease – and all we could do was go to appointments, be patient, and wait for the next step. And we couldn’t predict what that would be. Would they be stable? Would it be an emergency? There was no clear-cut idea of what would happen next – and we learned to be patient and accept that sometimes, there were no answers.
And I also learned that not everything could be controlled.
A Diagnosis Can Bring Fear
The day came when things went downhill rapidly. There were more complications, and it was decided to deliver the girls before anything went wrong. The fear that comes when you’re told that you’re being admitted and that your babies are being born prematurely because of potentially serious problems is horrific.
I learned that sometimes it’s best to put your trust in the team that’s looking after you and that it’s ok to be terrified and confused and scared – it’s human.
A Diagnosis Makes You Emotional
With two premature babies in the NICU and having different care needs due to the different effects of TAPS, riding the rollercoaster of emotions was daily. You learned to celebrate the wins and take setbacks with a range of emotions. My donor twin was chronically anemic, and required blood transfusions, and had frequent infections. The noise in the NICU of the machines around us and alarms going off became part of our day. There were always discussions with doctors, regular routines that we got used to.
Cuddling our babies was a treat, as they were covered in wires and sensor pads, and sometimes even infusion ports. We became skilled at diaper changes around dressings and wires and learning not to disturb a catheter or cannula.
Some days we struggled, but our remarkable babies seemed to take it all in their stride. Through their resilience, we learned to take one day at a time and also be resilient.
A Diagnosis Is Challenging
After the girls were released home, it wasn’t over. Because our disease is often mistaken for another disease affecting twins, we would have doctors tell us there was nothing to worry about and that they’re out now; there’s nothing to worry about.
Our girls seemed to hit milestones a little late, and we knew that things weren’t all perfect. When we raised this with doctors, they told us not to worry so much and that prematurity doesn’t matter after age 2; we were just overly protective.
Our challenges were finding doctors who would listen and would acknowledge our disease. There was also the challenge of someone looking past the external of 2 happy, healthy kids and realizing there was something concerning their parents.
Even when long-term effects for TAPS were published, we still faced pushback and being called paranoid parents.
Our diagnosis taught us never to take no for an answer and to push back against the system.
A Diagnosis Brings Relief
Years of pushing back against the system and fighting for second opinions finally paid off. After trying for a second opinion on the girls’ development, we were referred to a thorough team to investigate them. They were open to learning about their disease. While there wasn’t a lot known, they would be taking on a lot of challenges, and they threw their hearts and souls into helping us.
And finally, we got answers. Both girls did have delays, and they also had autism and developmental issues. We weren’t paranoid parents, we wanted answers.
I remember the day we got the diagnoses, and I cried tears of happiness. Once we had named the beast, we knew how to tame it, which was the most significant relief of all.
(And I have to add, there was a little smugness thrown in this one. We were right, after all!)
A Diagnosis Can Change The Way You Advocate
A rare disease diagnosis taught me things were different from when I went to the doctors. As patients, we sometimes go in blindly and accept what we are told. When it comes to rare diseases, our teams haven’t heard of the disease, and we as patients sometimes have to educate our care providers.
It doesn’t mean that we should be snarky, or smug, or rude. It’s about cooperation and helping each other out. I learned that I might sometimes be the expert in the room regarding my children’s diagnosis. This makes it an opportunity to educate and share our stories.
A Diagnosis Taught Me To Let It Go
I was learning to prioritize my emotional health and putting my energy into the things that mattered in life. I was no good to myself or my children if I was stressed and broken down.
TAPS taught me to make sure I put myself as a priority too. Planning and organization are excellent, but you also need to know when to let it go and embrace the chaos that comes.
A Diagnosis Led Me To Raising Awareness
My journey through twin anemia polycythemia sequence taught me that there are many myths and a lot of misinformation. I learned to write about my story, talk with experts, and share my experience to raise awareness.
It also led to me forming TAPS Support, a foundation dedicated to connecting patients to research, to doctors, and each other. We also raise funds to continue research into TAPS, because as we all know – rare diseases do not get funds.
Having a rare disease has taught me that my voice is the most powerful tool to raise awareness, but it is also essential to help others.
And The Last Thing A Diagnosis Taught Me Is …
TAPS taught me that we need to speak up and talk about our experiences. In the rare disease world, we are all advocates and sources of information for the community and care providers.
We can raise awareness together by sharing our experiences, creating communities, sharing our stories, and being the voice of our diseases.
I’ve made so many amazing friends through the rare disease networks – not only for my niche but also into the broader awareness community. We share challenges, a passion, and a mutual goal of creating communities and helping people in our situation. They’re not the same challenges, nor are the diseases the same – but we all share mutual goals of awareness and advocacy.
My TAPS diagnosis taught me that friends are always just around the corner if you’re looking for them.
And it also taught me that within the world of rare diseases, you’re never alone. Someone has always had a similar experience that you can laugh, cry, and form a lifelong bond of friendship.