Olive turns 3!
So much has happened since I last wrote. Most importantly… Olive went to Disney World! More on that magic in my next post… first a few exciting life and medical updates.
For the past 8 weeks, my husband Andy (Olive’s Dad) has been on family medical leave to spend additional time with Olive and increase her therapy schedule. I took a similar leave of absence earlier in the year, and we’ve found that the extra therapies and one-on-one time are great for Olive’s motor and cognitive development. Olive’s core strength is improving, and she can now pull up to stand independently on all types of surfaces!
Olive really likes to be upright, and continues to work on learning to walk with the help of a gait trainer (similar to a walker, but with more support for those who cannot stand independently). Olive can’t stand yet or take steps on her own, but she’s a super fast crawler and loves to explore.
As Andy’s leave wrapped up, Olive also turned 3! This means that she’s eligible to attend early pre-k through the public school system due to her disabilities. So the past few months we’ve been working on all the various meetings, evaluations and decisions that go into transitioning her from an IFSP (a developmental services plan that focuses on the child + family, mostly with in-home speech + PT services) to an IEP (that focuses more on receiving services that are geared towards education and learning). Olive went to preschool in the past, but we had to pull her out due to safety concerns, and had shifted to a nanny to get her more one-on-one time between our family leaves.
After weeks of meetings, one school being full, waiting, following up, and waiting some more — Olive was officially assigned to a full day PEP classroom at Rock Creek Forest Elementary School! RCF was the closest school to us with the right program for Olive and we are ecstatic about it and the team there. It’s a really great school.
Olive also gets to ride a BUS to school that picks her up from our doorstep, and uses a special wheelchair stroller for transport. For a kid with special needs, having something so convenient as door-to-door transportation is a game changer! The word “convenient” very rarely applies to special needs parenting, so we are ecstatic about the bus option — and happy Olive loves it too! An aide rides with her to school and Olive gets to sneak a nap in on the ride home.
Switching gears to the medical front… so much has happened since I went to the NORD rare disease conference and started connecting with scientists who have studied LNPK and the gene therapy team at UTSW. Most importantly, we heard back from Dr. Xin Chen and Dr. Stephen Gray at UTSW (experts on gene therapy and the same team that successfully developed a treatment for spg50) and…. we are officially starting the journey to develop a gene therapy for LNPK!! This is a HUGE undertaking that will take several years (and several million dollars), but the process starts with a proof-of-concept that we’ll develop and test in mice.
We’ve made a $50K donation on behalf of RareOlive.org to UTSW to get this work going, and will be creating animal models in mice with (2 different versions) of mutations in the LNPK gene, like Olive has. These mice take 6 months to get going, so it was critical to get this work started while we in parallel raise money, hire lawyers, and get under contract with the university for a sponsored research agreement to develop the gene therapy. Here’s a video that explains what gene therapy and how it works:
In parallel to pursuing gene therapy, we’ve also submitted Olive’s disease to the n-lorem foundation, which develops a different type of treatment for ultra-rare genetic diseases called Antisense Therapy. Antisense therapies are short strands of modified DNA that specifically target the mRNA of a defective gene to increase (in Olive’s case) production of a muted or missing protein. ASOs are not a cure like gene therapy, but are significantly cheaper & faster to produce. If we could develop an ASO that would increase production of the Lunapark protein, it could have the same effect as gene therapy — getting the LNPK protein to cells that need it in Olive’s brain. ASOs also carry less risk, as they last only a few months in the body. Patients receive these treatments every few months for the rest of their life. Here’s an article that talks about the use of ASOs for Rett Syndrome.
The amazing thing about n-lorem is that they only focus on ultra-rare diseases like Olive’s, and they do it for free! Olive is still under review, and I’ve pointed their scientific team to the animal models of Olive’s disease that are available, and connected them with several of the scientists who study Lunapark that I’ve been in touch with. The scientist who made the initial discovery of Lunapark and the associated Neurodevelopmental syndrome is on the board of n-Lorem, and I’ve spoken with him too. The process now is for their team to determine if we have the scientific materials we’d need to pursue the development of this therapy, and to decide if Olive’s disease would be a good candidate. If n-Lorem decided to take on Olive’s disease, it would be a miracle.
With an ultra-rare brain disease like Olive’s, we have limited time to develop and administer any treatment — we are in a race against time as the damage to her brain started in utero. We must pursue every possible treatment route in parallel with the hope that we can have an impact on restoring some of the cellular processes impacting her cognition and motor skills. A treatment that would help Olive to be able to communicate her basic needs would be game changing for her quality of life.
One day, the science will advance such that testing for these (now rare) diseases can be added to a newborn screening panel, with treatment available before the infant leaves the hospital. The work we are doing is to help kids like Olive live a better life now — but ultimately, is towards pursuit of that future. If we can help this become a reality one day, it will all have been worth it. I truly believe we were blessed with the incredible gift of Olive to help others.
The last update on the medical front is that we were also connected (via Andy’s uncle, a PhD and professor of pharmaceutical sciences) to Dr. Joseph Wu at Stanford, who has volunteered to make cell lines for Olive and deposit them for use in research of LNPK. This will be super helpful in enabling others to study this disease, and we can use them to test efficacy of the gene therapy drug we create in Olive’s cells.
The various scientists we’ve reached out to with Olive’s story have been so generous with their time, whether its exchanging emails or hopping on zoom calls. While it’s tough to be diagnosed with something so rare that you have to forge your own path for research and treatment, its encouraging and hopeful to meet so many who want to help where they can.