From the Desk of a Rare Mom Advocate, Clinician-Scientist, Founder and President of CaRAVAN Network Inc.
“Rare is a person, a mom, a dad, a journey, a caregiver, a nurse, a researcher, a physician and an urgency to find cures.”
Having now been in the trenches for 7 years as a mom on this daunting journey, with urgency engaging with our community - people, parents of kids and families faced with a rare, scary and sometimes devastating diagnosis such as a vascular anomaly, and as a clinician-scientist navigating the healthcare system to save my own son, it became frustratingly clear that the obstacles to advancing the field like improving treatments and finding cures exists, unfortunately and unintentionally because of silos within the patient advocacy environment and in research.
As a mom and surgeon-scientist it has been clear that our dedicated and passionate clinicians are few and far between and overworked.
This means that while they are motivated to guide and lead the research discover, they do not have the time and there are not enough of needed experts in the field.
Researchers and clinicians need our community's help. We are truly better together. CaRAVAN Network's motto:
“Communities together on a journey to cures.”
To the hear the words, "no we can't do that research or study... we don't have the resources or the bandwidth...your diseases are rare and not profitable..."
These words are what motivates the mission of CaRAVAN Network - to do what others have said is impossible...
because YES WE CAN!
We can do this together! By collaboration, pooling resources, assisting with grants, research study development, networking, and encouraging young motivated undergraduates and graduates to step into this field of potential discovery - we can build an army of researchers and clinicians dedicated to moving the field forward!
One day and soon - we will demonstrate that what we learn from research in RARE vascular and lymphatic anomalies will provide answers to COMMON diseases like cancer and other circulatory (artery, veins and lymphatic) related conditions too.
CaRAVAN Network's overall mission is to bring all our stakeholders together – patients, families, researchers, clinicians and pharma with one objective – to identify safe diagnostic methods, effective therapies and find cures for our community, for my son and so many others like him.
Thank you for joining in, coming together to achieve the impossible!
Founder & President of CaRAVAN Network Inc.
Today, Michael is a thriving 13 year old teenager loving middle school and enjoying "normal" and we are incredibly grateful to our team of researchers and clinicians who all came together to get our Michael to stable.
Michael was a completely healthy kid and an older brother to Matthew (only a year younger) up until the age of 6 years old.
He was attending Grade 1, when I received a call while I was at work that he had a fever. The fever which was only supposed to represent a kids viral exanthem (fancy word for rash) lasted days, he grew weak and lethargic, complained of bone pain and was losing weight.
Our team of doctors felt that it was "viral induced" and/or perhaps I as a physician was worrying too much. I remember being told that "maybe Michael's lack of appetite was behavioral." What?
When Michael came home from school one day with deep bruises all down his legs, that was when my worries and fears were acknowledged and everyone knew something was not right.
Michael's platelet count was low, not terribly low but not normal either.
From this point on and for over a year - Michael underwent test after test, was poked, prodded and seen by over 12 specialists all who could not make sense of his symptoms.
Mid-way through this ordeal Michael was diagnosed with Idiopathic Thrombocytopenia (ITP) and we were told not to worry, most kids get better.
But Michael did not get better. His platelets continued to drop, he continued to lack energy, had no appetite, complained of tummy pain, bone pain, bruised even when his was at play and someone just brushed by him.
After attempting to treat Michael for ITP, which failed - the doctors advised it was time for us to do a bone marrow biopsy. We put Michael through this procedure and now in retrospect realizing that this procedure would send us down the wrong diagnostic pathway.
We received a call from our pediatric hematologist that Michael had an "empty bone marrow" or what they believed to be Aplastic Anemia. For over 6 months Michael went through exhaustive testing to figure out what caused the Aplastic Anemia. However, ever test came back providing no clues.
It was not until 14 months later after Michael's first symptoms of fever that we finally had a diagnosis.
Kaposiform lymphangiomatosis (KLA).
Michael was playing with his brother Matthew and somehow bumped his head. This small bump quickly turned into a bleed just under Michael's scalp that would not stop bleeding. My child was so sick, he cried and screamed in pain (those cries I still hear as we rushed him to the ER), he was nauseated, vomiting and unable to keep any food or drink down. I as a surgeon who was trained to stop the bleed, was helpless and it rocked me.
Michael was hospitalized for 8 days where he endured countless tests, procedures, saw so many different specialists we stopped counting and he required blood and blood products to keep him stable. And, then finally after an MRI was done, we learned that our child not only had a rare disease, but that it affected the lymphatic system - a double whammy we now faced.
KLA is not only rare by it affects a system neglected by medicine and funding. My husband and I, having never heard of this disease in medical school or clinical practice had to turn to “Dr. Google”.
The first sentence in the definition of KLA included words that remain etched in my head, yet motivate me every day, “KLA has a poor prognosis and no cure”.
As my husband read the few publications about KLA and I searched with urgency for experts that could help us find treatments and a cure, we quickly learned more about the lymphatic system over days and weeks, than we ever did in med school or for that matter during our entire careers in medicine.
As a trained surgeon, I surprisingly knew very little about lymphatic anatomy, function, nor my role as a surgeon potentially compromising the lymphatics with each operation. What became frustratingly clear was that because human lymphatics are so complex, difficult to see and even harder to image; they are underappreciated and neglected in medical school especially compared to attention focused on blood vasculature- our artery and veins.
Most importantly, the lymphatic system is understudied and underfunded. Our healthcare providers are not familiar with recognizing signs and symptoms of lymphatic dysfunction nor are they equipped with essential tools to make the diagnosis for the millions of Americans suffering from lymphedema or other lymphatic diseases. Even when a provider astutely makes the correct diagnosis there are few treatment options to offer and literally no cures.
As I sat next to my son's hospital bed afraid, overwhelmed, numb and uncertain of what would come next, I had plenty of time to reflect and did recognize how fortunate we were to have studied medicine and therefore the ability to advocate as best as I could to keep our child safe.
And, my heart ached as I watched other moms and dads, some whom were in the medical profession but as well many without medical knowledge who felt alone, lost, isolated, afraid as they watch helplessly and had not choice but to trust the doctors and staff to keep their child safe.
It was during those moments that I knew what I needed to do. While it was a tough decision to step away for the time being from my current career, I knew that needed to use the skills that I had trained for and put them to work for our community.
While advocacy admittedly has been tougher sometimes than residency - mostly because there is so much at stake - I now know this was the right decision.
I share Michael's story here so that if you are a parent or family member reading this post and perhaps feeling isolated, alone, afraid, sad, scared, frustrated and possibly that there is no hope -
Please know that you are not alone, while rare diseases are just that RARE, together we are not so rare and together the vascular anomaly community can beat the odds stacked against us.
To find out how you can help - click the link below and contact CaRAVAN Network today!
Michael without truly realizing it has been an amazing ambassador for the disease – he has been center stage at the American Society for Pediatric Hematology and Oncology (ASPHO) where he created a video all on his own to share with others his journey from being incredibly ill to having stability.
The session was called “The Power of One”. He also was the star of an event at the National Vascular Biology Association (NAVBO) where he stood at age 9 years old in front of a large audience filled with scientist to tell his story.
Here is a link to his video. This was shown to a room filled with scientists and clinicians. https://tinyurl.com/3ubm6jsj
Also, I have included a video webinar called #ScienceSaturday.
We created this webinar series to bring scientists and patients together to tell their stories.
We went first and this is our story.
Michael’s case has been reported in Pediatric Blood & Cancer journal. And, the cool part about this is that our Michael has done all of the editing for this video series. https://youtu.be/rvWh2Trs-P4
Finally, with gratitude to the Lymphatic Education Research Network (LE&RN) who have been advocating on for more research and resources for lymphatic diseases at the NIH, here is a video https://lymphaticnetwork.org/actionweek that helped convince the US Congress to support the formation of a National Lymphatic Commission with hopes that one day Lymphatic and Vascular Anomalies has a research home at the NIH.
And a blog about our Michael.