Kimberley, Michael’s mom, says he was the “smartest, happiest, bright-eyed, beautiful baby.” She calls him her ‘miracle boy,’ because as an older mother, she had to go through a lot to have him. When Michael was 5 years old, he developed a terrible fever. His pediatrician brushed it off as a virus, but Kimberley had a bad feeling.
Ten days later, Michael presented with a rash all over his body. He began to recover but remained lethargic and fatigued, and Kimberley noticed swelling in his groin. Michael began coming home from school with bruises and had a poor appetite.
The bruising is what got doctors finally concerned. Michael was clinically diagnosed with idiopathic thrombocytopenic purpura (ITP) and was started on IVIG infusions. He later received a different diagnosis, this time aplastic anemia. For the next year, Kimberley and her husband took Michael to over 12 specialists and even met with the world’s expert on aplastic anemia at the NIH. They were left with no answers.
Later that year, Michael hit his head while playing during a family vacation and developed a large blood filled bump that continued to grow. It caused him horrible pain and vomiting.
As a surgeon, Kimberley has dealt with a lot of blood, but in Michael’s case she felt helpless: “I watched this thing just expand. I’ve never seen anything like it.” He was rushed to the emergency room and hospitalized for eight days with a severe coagulopathy (bleeding).
Undergoing many tests, the doctors did an MRI. After receiving the MRI results Kimberley and her husband learned that their son was likely suffering from some form of lymphangiomatosis, a term neither of them, even as doctors, had ever heard before. They Googled the term and their lives changed from that moment.
Grateful to be in the medical field, Kimberley began reaching out to all of her colleagues and researchers all over the world to find an answer. The family traveled to Boston Children’s Hospital to meet with Dr. Denise Adams who diagnosed Michael with kaposiform lymphangiomatosis, or KLA.
First described in 2014, KLA is an ultra rare condition in which lymphatic vessels develop atypically and can invade and cause damage to surrounding tissues, bones and organs. KLA falls under the umbrella of complex lymphatic anomalies, or CLAs. As Kimberley describes, KLA is a “somatic mutation, which means not every cell is affected.” This results in patients having a variety of different presentations and symptoms, which makes the condition even more difficult to diagnose.
While KLA has no treatment or cure, meeting Dr. Adams changed the course of Michael’s life. “She gave me a list of doctors, scientists, and people I might need along the way. That was the power of one to me. [Michael] brought all these people together,” Kimberley reflects.
The family headed home and Michael underwent further tests, including multiple biopsies, which caused him to get very sick.
“The disease is thought to worsen with infection, inflammation, trauma and puberty,” Kimberly explains, “Having the biopsy revved it up. It was a trauma.”
Now, Michael is on a repurposed medication that was developed to prevent organ transplant rejection, which is helping to keep him stable. A young patient advocate, he was invited to speak at the American Society for Pediatric Hematology and Oncology and wrote a blog post about his journey with KLA thus far.
“I am lucky that my doctors, nurses, and other medical support have worked together to help me,” Michael wrote in his story. “Hopefully, the information they’ve gained from treating me will help other kids to have the great same treatment so that they can run, swim and climb like I love to do.”
Both Kimberley and her husband are physicians and have become advocates for KLA in their own right. While neither have expertise in this area, Kimberley’s husband Greg did all of the reading and Kimberley reached out for help, through networking and utilizing what skills she had from her day job. She contributed to research by writing and helping with grants and a case report about Michael, which led to the institution of a clinical test for KLA that avoids biopsies and inspired a clinical trial that will be launched soon.
“Greg and I had the opportunity to reach out to whoever we needed to for help. To this day, I think about parents who don’t have that and have to do it all on their own.”
Kimberley has stepped away from her day job as surgeon-scientist and has joined Lymphangiomatosis & Gorham’s Disease Alliance as the director of patient-led research to help “accelerate the science.” Having navigated the health care system as a mom through the eyes of a physician, she understands the “Power of One” and how valuable the patient’s voice is.
She hopes to serve as the bridge between the patient, clinicians and scientific communities, and advocates for medical professionals to “listen to parents, because they know their kids best.” And, likewise she asks her community to share their stories, contribute in any way that they can – be it surveys, registries, natural history studies, research or advocacy because if not now, then when and if not us then who? Further, she wants her community to know that they have an incredible clinician and scientific community out there working 24/7 with passion, persistence and determination to beat this ultra-rare disease.
Kimberley signed up to be an Ambassador for the AllStripes KLA research program because she recognized the importance and the need for her community to collect longitudinal data on the condition to help her better understand what Michael’s future will look like: “I haven’t met any adult KLA patients. I as a parent want to know if there are patients out there, and the only way we are going to know is by doing natural history studies and asking everyone who is out there to contribute. In this way, we are not only helping the individual but our community as a whole.”
The AllStripes platform enables rare disease patients and caregivers to access all their medical records online in a secure account, at no cost, and contribute their de-identified medical history to advance treatments for their condition.
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List the names of all the doctors, hospitals, and other facilities your loved one visits regularly, along with those they have visited in the past. Try to go back as far as you can, striving for at least the last 5-10 years, but do your best. Even if you can’t remember them all, having a strong baseline can help you quickly identify gaps in records.
It is important to make sure that you are fully empowered to make decisions on behalf of your loved one with Alzheimer’s. Your relationship status with the patient may not be enough to legally give you access to your loved one's medical information. It is a good idea to talk to an expert about securing special legal status, such as Power of Attorney (POA), a legal document that allows an individual to name someone as their decision maker should they no longer be able to make decisions on their own.
It’s important to have all of your loved one’s medical records together in one spot. This makes it much easier for you and your loved one’s physicians to accurately map the patient’s medical journey and more easily share information between doctors. Fortunately, tools exist to make record management and access simple. A free resource like PicnicHealth helps you collect and organize all of this information. PicnicHealth’s intuitive timeline allows you to pinpoint data across the medical history, eliminating your need for keeping heavy binders filled with paper records or keeping track of multiple software portal logins.
The better you understand your loved one's medical history, the better you can advocate on their behalf. Access and understanding of this information will help you to ask informed questions with physicians. Through regular communication backed by the data in the medical records, you can help your loved one’s care team develop a more successful care plan.
Learn more about PicnicHealth’s commitment to the Alzheimer’s community and the Alzheimer’s Association
Learn MoreWhen you’re juggling appointment times and insurance claims, putting a robust support system together might not strike you as the most urgent task. Investing the time to cultivate relationships with people can turn to in times of need will pay dividends. The next time you need a last-minute ride or just someone to listen, you won’t be on your own.
There are many condition-specific support groups and support groups for caregivers generally in person or online. In addition to the encouragement and empathy they provide, support groups can be a helpful source of tips, resources, and recommendations for navigating caregiving.
The backbone of effective caregiving is organization. Keep medical information, appointment schedules, and medication lists in order. Use a planner or a digital service like PicnicHealth to stay on top of your responsibilities. This attention to detail can prevent future complications and reduce day-to-day stress.
We’ve seen incredible breakthroughs in treatment over the past couple of years, powered by patients and their caregivers participating in research. Stay in the loop about the latest in medical advancements and available resources that could benefit your loved one. Whether it’s a new therapy option or a community service that aids independence, being informed can make a world of difference in the quality of care you provide.
It may seem self-centered to focus on self-care—but when you feel good, you can be a better caregiver. Whether it’s exercise, a mindfulness practice, a soak in the bath, or just time to rest when you need it, carve out those moments in the day when you can unwind, reset, and stay healthy mentally and physically. Think of it as building up your reserves of kindness, patience, and understanding—which can only benefit your loved one. No one can pour from an empty cup.
Easily manage all of your loved one's medical records and contribute to ongoing Alzheimer's research with PicnicHealth.
Learn More(from 13 patients with LC-FAOD)
38% Female
15 providers / patient
7.5 years of data / patient
(from 13 patients with LC-FAOD)
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