Lots to Update on
A big win of the week is that using BiPAP at night is working great to keep her CO2 levels down when she sleeps. She’s still not a fan of putting it on though, so the nurses will wait until she’s in a deep sleep, sometimes taking 2 attempts to get on successfully. The other challenge we’ve been encountering is the mask coming loose when she moves to her belly or pulling it off in the middle of the night and it’s difficult to get back on without a fight. We’ll likely be hospitalized until we can get her desensitized enough to wear it regularly, but if that doesn’t happen then a trach is still on the table— we’re truly trying everything we can to make her more comfortable so we don’t have to come to that. They’ve also been testing her off supplemental oxygen with the hope that she can live “normally” during the day, free of medical equipment and just use BiPAP intervention at night. If we’re able to get all of this to work, it will be huge for her quality of life.
G is crushing all her therapies! She loves when PT and OT come to play and has been able to walk down the ICU hall lightly assisted. Her speech has also improved and she can string together short sentences. She had a swallow study on Friday, which looked at how she manages eating different consistencies of liquids and foods. They couldn’t see any clear evidence of aspiration (a previous concern), but when she eats/drinks quickly, they could see how things might enter her airway and cause irritation. We’ll continue her diet of softer foods and monitor her water intake in the meantime. She’s also developed quite the fan squad of nurses and doctors who pop in for giggles even if she’s not their patient that day.
On Thursday, Gia will have an MIBG scan, where they inject a radioactive tracer absorbed by tumor cells and take imaging to show if she has any neuroendocrine tumors, which is yet another risk of ROHHAD. She will undergo routine screening for these tumors for the rest of her life.
As I’ve mentioned in previous updates, Gia has an extended care team working behind the scenes and weighing in on Gia’s case, some of which are the top doctors and scientists in the world. Kevin had the opportunity to meet one of them this week, Joe DeRisi, Biochemist and President of BioHub in SF. They call him the Disease Detective and he has done notable work on SARS, COVID-19, and ROHHAD. And, fun fact, he’s originally from Carmichael! He feels like we caught Gia’s ROHHAD diagnosis early and given the research they’ve already been doing, she’s in the best possible place at UCSF to undergo further testing and treatment. The team also strongly believes that Gia would benefit from receiving a more aggressive possible treatment, which is a therapy designed to reset the immune system and has been used in other neurologic autoimmune diseases like MS. Studies are still early, but results have been encouraging, and Gia would be the first ROHHAD patient to trial it if it gets approved for her case. There’s a ton of coordination going into this, but we’re hoping to hear an update on over the next couple of weeks, so more to come there.
Kevin and I both returned to work last week. Until Gia gets discharged, we will be switching “shifts” week to week to be at UCSF with her and stay on top of her progress. We’re fortunate to work remotely and can have the flexibility to be in San Francisco, but most of all, thank the heavens for retired grandparents, who are doing their best to be here when they can so Gia won’t be alone during the day while we’re on meetings.
We’re so happy about how far she’s come and are impressed by the incredible amount of courage and determination she brings into every day. Thank you for continuing to keep Gia in your thoughts.
With love,
Linds & Kev
