Marian is the youngest patient in the world that we know of to be receiving this treatment via IT (spinal fluid). Another title holder is our friend Parker who is only six months old and just started it but through an IV to target his liver. Spain allows compassionate use and my high school spanish is ever waning, so it's possible there's someone in Spain as young as Marian. However, within the United States and most of the world it's definitely Marian Linda McGlocklin.
It's really helping her. I never would have said in the past that Marian didn't have much of a personality but we see so much more of her personality now. She sits on her lion scooter and catapults herself backwards and forwards down the hallway squealing with delight. She walked about twenty five feet yesterday into Emily's arms, toddling over with her shoulders hunched up and arms out for balance. Plus a huge smile of well deserved pride. She's learned and uses the word "no" a minimum of fifteen times a day - complete with emphatic head shaking. She keeps tabs on Emily, Paul and George the cat by saying their name and holding her hands up with palms out when they're not home. It's"ni night" when it's time for bed with kisses and hugs. When I walked into her class at school this week she instantly shouted "Mama!" This is all new.
Her belly is still huge and one day I hope she can get her treatment through IV as well to help her spleen and liver. For now, we're so grateful for this miracle of life, a life that was starting to slip which today has a much stronger grip. Lots on the agenda ahead that needs to go right - FDA approval, stay alive, a port, IV, gene therapy, newborn screen, fundraising, awareness, more new therapies, save life.
All this to say, there's a lot to do. A lot that has been done (thankfully) but also a lot to do. So part of the road ahead and being part of an investigational treatment is dosing. There's a general idea of the right levels but no set guidelines yet. Both to tell us exactly what is too high and similarly what is high enough to get to the right part of the brain. The lowest dose is 200 and most kids cap out at 900. Marian started her dosing at 200. She was very tired after the first one. Another dose at 200 and was completely fine. Then we went to 300, she felt great - maybe the tiniest wobble for a day max. Last treatment we tired 400.
Here's what happened. We are so lucky to be able to do Marian's treatments in CA at CHLA. Although they do make us get there at 5:30 a.m. to check in which I could not hate more when I wake up at 4:30 a.m., but that quickly fades as soon as I start driving to the hospital knowing how much it will help Marian. In case you haven't driven lately at 4:30 a.m. there is absolutely nothing open and there are a surprising amount of other people driving at that time - like more than zero which is how many people should be driving that early.
This last treatment I checked in at 5:30, went to the surgery evaluation waiting room where I knocked over a giant pile of toys with my bottom when I bent over (awesome), then to an exam room, met with a nurse then nurse practitioner, then off to the surgery waiting room and upstairs to the surgery center where my wonderful, delightful and comforting friend Lindsay met us with a puzzle for Marian and donuts in the bag for us later.
Marian's geneticist is the main point person for her treatment at CHLA but an anesthesiologist does the lumbar puncture and administers the treatment each time. Same doctor every time which is the best and he is awesome. He does the treatment and another anesthesiologist manages the anesthesia so we feel extra safe. Every doctor and nurse makes us feel special and well cared for. When it's time to go back I put on a giant white suit and hair net to walk Marian back and get to hold her as she falls asleep. Then it's a short wait in the waiting area, the procedure is over, we check in with the doctor and do an hour of recovery before heading home.
Paul and I were both extra nervous but excited to try the higher dose. Maybe this one would help her even more? But it might also impact her hearing or cause side effects. I talked in circles about it with my friend Alyse the day before. Friday after treatment at home there was some extra falling and Marian was so tired. She fell asleep on my chest at 5 pm. The next day she fell all the time, she could hardly walk a couple steps without falling. Paul was out in the morning and Emily struggled while I had to stay one on one with Marian as she tipped, toppled, and then screamed while trying to move around. It was not fun. She also woke up with a cold and had coughing fits that she needed her inhaler for. She fell asleep at 10 am for a nap while I held her, popping her head up to cry while half asleep. That night we tried to go to a good friend's family party at 5 p.m. We got there at 5:30 p.m. and left by 6:00 p.m. as Marian was exhausted crying and screaming. We didn't say it but Paul and I both thought, is this what it will be now?
The really lucky thing for Marian is she has some of the best doctors in the entire world. CHLA and Chicago both agree to go back to 300 next time. I am glad we tried the higher dose since it could have been the right level for her, but I'm also glad to be going back to 300. 300 here we come!
Marian right after waking up from anesthesia in recovery
#challenges #friends #parenting #parentingfears #VTS270 #treatment #sideeffects