About Christa's Journey with HD & MS
Christa's early HD journey
For over 20 years, Christa has been a champion in the fight against Huntington's Disease, tirelessly dedicating her time and energy to research in hopes of creating a better future for others. Her mother, grandmother, great-grandmother and uncle all had and died from HD, so she knew there was a chance she would have it also. She has also had many friends she made throughout the years at various HD support groups pass away as well. Her journey began by accompanying her mother to Predict HD, a long-term observational study tracking the progression of Huntington's Disease, which has since evolved over the years into EnrollHD. Even before her own diagnosis, Christa selflessly supported her mother, traveling with her to research facilities at UCLA, UCI, The Cleveland Clinic in Las Vegas, and even Columbia University in New York. Christa was fortunate to either live near these facilities at the time, or the research groups would help with the cost of transportation because of the rarity of the disease and those affected by it.
I remember those early days, witnessing Christa's unwavering commitment to finding a cure, a commitment fueled by witnessing her mother's struggle with the disease. Even as someone "at risk," Christa actively participated in the study. I recall countless hours spent at research facilities, where Christa patiently endured extensive interviews, meticulously testing her cognitive and motor skills. She bravely underwent blood draws and MRIs, all in the name of advancing Huntington's research.
Christa's dedication extends beyond the research lab. She's an active member of Huntington's support groups, sharing her experiences and offering encouragement to others while learning from their journeys as well.
Her involvement with DeSales University, where she attends physical therapy, has taken on an unexpected teaching role as it were. Christa's unique dual diagnosis of Huntington's and Multiple Sclerosis presents a rare learning opportunity for physical therapy students. By working with Christa, they gain firsthand experience in adapting treatment plans and understanding the complexities of these conditions. The knowledge they gain from Christa will undoubtedly help them better serve their patients in the future.
Christa's unwavering commitment to Huntington's research is an inspiration. Her contributions, both big and small, are paving the way for a brighter future for those affected by this disease. She faces her own challenges with incredible strength and grace, yet her focus remains on helping others. Even as we speak, she has finalized the documentation to donate any organs, up to and including her entire body, if necessary, to the university if it will help them learn more and save others. I am incredibly proud to be her husband and witness her extraordinary dedication to making the world a better place. Below are some results from the one of the studies Christa took her mother to, and that Christa and other selfless individuals who suffer from Huntington’s have been a faithful participants of:
· Early disease markers:
The study identified several clinical and neuroimaging markers that could potentially be used to detect the early stages of Huntington's disease, including subtle motor abnormalities, cognitive impairments, and changes in brain structure. This will potentially help doctors diagnose HD in patients sooner.
· Pre-symptomatic phase:
Participants with the Huntington's disease gene who were not yet showing clinical symptoms exhibited measurable changes in their neurological function, suggesting a long pre-symptomatic phase. This will also potentially help doctors diagnose HD in patients sooner.
· Time to diagnosis:
The study was able to estimate the time until a clinical diagnosis based on the progression of these early markers, indicating that the disease process may begin significantly before a diagnosis is made.
· Importance for clinical trials:
The Predict-HD study provided valuable information for designing clinical trials aimed at preventing or slowing the progression of Huntington's disease by enabling researchers to identify individuals in the early stages of the disease.
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Christa on her way to the research center
TL;DR: Be your own advocate!
This was just our first visit to Georgetown University Medstar Hospital, but we feel like we've finally found the right place for Christa. The care she received at Georgetown felt significantly different from our experiences at other Centers. We've encountered several challenges in coordinating Christa's care, including:
Doctor turnover:
At one center, doctors frequently left, and replacements weren't readily available.
Lack of specialist coordination:
Another center lacked a unified group of specialists. This meant constant communication between four different hospital groups, leading to frustrating situations where doctors would defer to each other's specialties instead of providing direct care.
Over-reliance on patient input:
At another center, the doctor seemed to only ask "what do you think?" While patient input is important, we also rely on doctors' expertise and guidance.
Dismissal of concerns: We often felt our concerns weren't being adequately heard.
Concerning medication advice:
The HD psychiatrist at one point recommended and prescribed Benadryl for sleep, despite studies indicating potential negative impacts on HD patients with long-term use. This raises serious concerns about the specialist's knowledge as there was nothing mentioned to us that there may be better options
Dangerous drug interaction:
Due to a lack of coordination between neurologists, Christa was prescribed both Fingolimod (for MS) and Citalopram, which can cause a serious heart rhythm issue. Our pharmacy never mentioned this to us because our specialty pharmacy handles Fingolimod and our regular pharmacy handles Citalopram, the Georgetown team identified this interaction immediately, before we even mentioned it. This highlights a critical level of care we hadn’t experienced previously.
At this appointment, I presented the doctors with my usual list of observations and concerns, emphasizing that these are simply observations and welcoming their professional input. My goal is always to ensure Christa receives the best possible care. I can't speak highly enough of the team there
Christa on her way to Georgetown
So if you're curious what stage Christa is at with Huntington's disease (HD). She meets the stage 2 or intermediate requirements depending on the terminology used by the HD center you go to. She has loss of coordination, involuntary twitches, difficulty performing complex movements, memory problems, difficulty solving problems, difficulty organizing, irritability, depression, mood swings, and loss of inhibitions.
At Georgetown University they have all the specialists she needs in one hospital group. Previously we were bouncing between 4 different hospital groups to get all the specialists she needs. It makes coordinating care difficult.
We are also interested in seeing if they will approve her for Pridopidine, which is an investigational small molecule drug currently under development for the treatment of Huntington's disease and apparently ALS also. It is easy to Google it for more information. It won't cure it, or treat Huntington's to "make it better" or cure any damage that has already happened. but if she can get it, it does seem to greatly slow the progression of the disease to the point of almost stopping it. It has been approved for expanded access for people not able to be approved to join the studies.
Studies never approve her because of her having a MS. At least through all of this her MS is stable.