After Victor Was Diagnosed With CLOVES and MCAP, Jenny Decided to Focus on the Things He Can Do
After Victor Was Diagnosed With CLOVES and MCAP, Jenny Decided to Focus on the Things He Can Do
By
Taylor Kane
Mar 19, 2021 • 2 min read
Blog post originally written by the AllStripes community team. AllStripes was acquired by PicnicHealth in 2023.
When Jenny’s son, Victor, was born by emergency C-section, he had an enlarged cheek, which doctors explained away as birth trauma.
After Victor’s head ultrasound came back normal, Jennifer was skeptical: “I still don’t know how that could have possibly been the case.” As a former NICU nurse, she had a strong feeling there was something else at play, and noticed her son seizing from birth. “His eyes would shake back and forth, or his leg would bicycle. Because I worked in the NICU, I knew what seizures looked like in babies.”
After pushing for more investigation, the family met with a geneticist and neurologist. Victor was found to have a fatty tumor at the base of his spinal column and a tethered spinal cord, which led to his diagnosis of CLOVES syndrome at two months old. CLOVES is a type of PIK3CA-related overgrowth spectrum (PROS) disorder.
Years later, however, Victor faced an additional diagnosis: macrocephaly-capillary malformation (MCAP). Like CLOVES, MCAP is another disease on the PROS spectrum. Jenny explains that the difference between CLOVES and MCM isn’t well understood other than that both conditions are caused by mutations on the PIK3CA gene. Jenny understands MCAP as impacting the neck and head while CLOVES typically impacts the body below the neck.
For most of Victor’s life, his family identified with CLOVES syndrome and now had to face a new, albeit related diagnosis. Jenny explains that about 20% of people with CLOVES also have a dual-diagnosis of MCAP. Jenny describes both of Victor’s diagnoses as devastating, but feels hopeful seeing other kids with conditions on the PROS spectrum who are able to manage their conditions and live happy lives.
Jenny describes Victor as high functioning given his brain malformations and seizures. While Victor is on a repurposed cancer drug that helps him control his seizures, the drug doesn’t work for everyone with MCAP. Jenny joined AllStripes because she wants there to be treatment options for all people with PROS with the least amount of side effects and the greatest chance of a high quality life. Being part of AllStripes allows Jenny to contribute de-identified data from Victor’s medical records to PROS research.
Jenny believes her experience as a NICU nurse has had both its positives and negatives in terms of being a mother of a child with a rare disease. “Being a NICU nurse, I understood a lot of the doctor lingo,” but “it has made me very paranoid and extra cautious.” Jenny explains her background also led her to believe her son’s prognosis was much worse than it turned out to be. “In the NICU, you see the worst of everything.”
For the first year of Victor’s life, Jenny didn’t know if he would ever be able to walk or talk. Now, he is an ambulatory and verbal seven-year-old. Jenny focuses on the things that Victor can do, rather than what he can’t. Jenny says her son “loves life more than anybody in this world.”
We know that every person's story is unique and deserves to be heard.
Create a List
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.
Ensure You Have the Appropriate Legal Status
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.
Gather and Organize the Medical Records in One Place
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.
Review the Medical Records to be an Informed Advocate
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.