by Ashanthi De Silva

Have you ever found yourself sitting, watching the clock drag it’s hands in a doctor’s waiting room, your mind refusing to cease the replay of endless questions you’ve asked yourself, and now you’ll get to finally ask your doctor?

If you’re anything like me, you’ve fought (yes, sometimes literally) to actually get this very appointment. You know something’s been wrong with your body, and you’ve taken the initiative to do something about it. The doctor walks in. This is it. If luck is on your side, you might get an answer, an actual diagnosis.

In one brief moment, anxiety, hope, and the frightening weight of the unknown overcomes you. Yet, it also can be serendipitous. We know in the rare disease world that to have a firm diagnosis is an achievement in itself.

Many patients also quickly learn one initial diagnosis can lead to numerous other diagnoses, due to the underlying condition, or something completely separate. Either way, it never gets easier to hear something is wrong with your health, and that it will require new medicines to take, new ways of managing your day, and figuring out how to manage life. Whatever new routines you will have to take on, the end goal is to incorporate them as smoothly as possible into your life, without letting them become your life. Here are some steps you can take as a patient or caregiver to help you manage the mental, physical, and lifestyle changes often accompanying a new diagnosis:

  1. Breathe. A simple suggestion, but many of us forget to do this on a daily basis. Getting to the point of actual diagnosis is no easy feat.  The stress of illness and frequent hospital visits are taxing on the mind and body. If this is your first or fifth diagnosis, it’s important to take deep, slow breaths throughout the day and relax. In fact, while I was receiving treatment and waiting to hear news in the hospital for over a week, I listened to classical music and focused on my breathing. It is a great way to expend energy, and in turn it re-energizes you for whatever you need to tackle each day.
  2. Reflect, and if necessary, grieve. This may seem odd to include, but it can be a beneficial step into moving forward with your new care plan.  Maybe you have been asked to see a new specialist every month. Maybe you need to wear a medical bracelet or carry a card in case of emergency.  Additional blood work, needle sticks, or medications, can all be sources of stress. With my new diagnosis I found myself thinking, “I used to be so healthy before this, how did things go wrong? Where did I go wrong? What could I have done differently?” Let yourself experience this range of emotions fully. It can be cathartic to reflect and grieve for the life you had prior to diagnosis. It is the end of one chapter, and the beginning of another— hopefully, with time, a chapter just as fulfilling and exciting as the previous ones. And this time you are a little wiser as you have new information about your body to guide you.
  3. Inform your medical care team. It is of the utmost importance to update each one of your doctors in your health care team about your new diagnosis. Ask questions. Write down answers. Will new medications interact with old ones? What are the side effects? In case of emergency or further complications, you will have thanked yourself for keeping everyone in the loop!
  4. Keep a health journal. While this may seem like another thing to add to your “to-do” list, it actually can decrease the stress of having to keep it all organized in your head. This benefits you, any caregivers, and  your medical team! Dedicate a section of the journal to current medications, along with dosage and frequency. Include another section for writing down questions to ask your doctors. Then, the rest of the journal is yours to write down emotions, symptoms, and how you’re feeling on a daily basis. Do you notice any changes after particular medications, foods, or activities? Your doctors will appreciate being able to clearly read dates and times of symptoms, and it will be much easier to track any patterns.
  5. Google, but in moderation. With an infinite amount of information at our fingertips, things like Google and WebMD can be helpful if you aren’t feeling well. No one knows your body better than you do. Of course, try to avoid the worst case scenario information. It comes with a great responsibility, and moderation is key. In fact, one of my diagnoses, primary hyperparathyroidism, was given were solely due to my googling. I knew something was wrong, and I kept researching my symptoms for months until I found a diagnosis where all the pieces fit together. I brought it to the attention of my doctors, and kept pressing them to delve further into it. Surely enough, I had a large tumor on my parathyroid! Write down the information you find online, but always consult with a doctor.
  6. Don’t go through stressful times alone. No man is an island, and this statement rings even truer when we experience health crises. I finally caved and allowed my mother to come and stay with me for a few months to help with housework and keep me company through hospital visits. It is one of the best decisions I’ve made, because she knows my health ups and downs better than anyone else. Don’t be afraid to talk about your feelings and experience with others. Ask for help when you need it. Sometimes others you least expect will rise to the occasion, but you first have to speak up and give others the opportunity to help.
  7. Seek out support groups. Nothing can be more helpful than having another person truly understand what you’re experiencing because they have experienced it themselves. Find disease-specific support groups, or broader organizations like Global Genes that can guide you with their toolkits and resources. In my case, my most recent diagnosis, idiopathic adrenal insufficiency, is an anomaly in the medical world. My doctor offered to get in touch with the only other patient of hers who shares the same diagnosis. Again, ask your doctors for resources or research online. You may even strike up a new friendship in the process!
  8. Rest. More than ever, your body needs you to treat yo’ self! Rest your mind with periods of silence and no movement, or by doing something that calms you. Get enough sleep, and your body will be twice as prepared as before to help you make it through each day.
  9. It’s OK to not feel okay. Just because you’ve reached the point to diagnosis doesn’t mean it is suddenly all over. There is new information to process, along with managing symptoms, maybe new side effects of medications, as well as maintaining mental health throughout. Not every day is going to be rosy, and that is okay. Your body is fighting for a state of balance, and it requires time and patience to adjust. Go easy on yourself and accept how you are feeling, rather than trying to fight or push through. It’s okay!
  10. Put some “life” back into your life! I promise you, there is a silver lining hidden somewhere among the clouds! Ok, maybe its a vicious hurricane with black clouds that is down pouring every day. When this is the case, make the choice to put some sunshine back into your life. Do something that brings you joy. Talk to a friend and share some hilarious memories, watch a comedy, or make your favorite food. Slow down, and savor every moment. I always suggest getting fresh air each day, whether it’s by walking outside, or even opening a window. Appreciate the fact you are going through something most others don’t experience, and it is trying on the body and mind. This is all the more reason to celebrate life’s little pleasures and enjoy what is around you.

About Ashanthi De Silva

Ashanthi De Silva is a rare disease blogger and patient advocate living with SCID-ADA. Originally from Ohio, she graduated from Ohio State University with an undergraduate degree in international relations and a Masters in Public Administration. She lives with her husband and Shih-tzu mix fur ball, Maya, in Logan Square, Chicago, and enjoys traveling every year to see family in Sri Lanka. She is involved with raising awareness for primary immune deficiencies through the Immune Deficiency Foundation. Her new blog, Life with PI (www.lifewithpi.com) focuses on story sharing of her personal experiences, as well as other patients and caregivers

2 thoughts on “The Rare Spoonful: Ten Things to Remember When Receiving A New Diagnosis”

  1. warmedbyfaith says:

    I have Dercum’s Disease! My pain strengthens my faith I believe. .At times my pain engulfs me with sharp biting cold waves of agony.My faith on the other hand embraces me with the tender embrace of a strong summer breeze. I may never feel the warmth of a clam summer day but that’s ok. On my the coldest days I know I am drawing warmth from my faith!

  2. Disgustedwithdoctors says:

    There is so much talk in the rare disease community about getting a diagnosis.No one talks about what happens next.I have an usual variant of a disease called Ataxia -Telangiectasia like disorder.Both unknown mutations and unknown presentation.Supposedly there are only twenty five other known cases of this disease in the world.I found my doctors knew nothing about this disease,and I had to research it all myself.
    I have no problem with this,but I do have a big problem with the lack of help and support I have gotten from doctors.I was notified by the lab by email that I was found to have these mutations,not by any of my doctors.After I was diagnosed,I was more or less dumped by all of my doctors,because they knew nothing about the disease,and were too busy with other patients to learn.One came out and told me as much.None did any work to help me find a specialist who would see me.It was goodbye,good luck,you’re on your own.In the months since I have had a hard lesson in what it like to try to get help as an adult with an atypical variant of a very rare disease.To try to contact doctors all over the world to try and be seen.Simply put,no one is interested.It is probably very similar to what happens to a patient once they are found to have mutations for a disease with no name.

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