I’ve written in other posts about NF1 and Eliza’s optic glioma, but I wanted to write a post explaining how we discovered Eliza had an optic glioma (along with NF1), what her treatment options were, and what her long-term prognosis looks like as far as we have understood what we have been told by our care team. Maybe this will be helpful or encouraging for another NF1/optic glioma family! I know when Eliza was diagnosed I was googling like crazy other optic glioma stories!
Eliza was born completely healthy via C-section due to being breech in December, 2015. She was a healthy baby that slept and ate great! We moved from Nebraska to Washington when she was 7 months old. Her new pediatrician noticed a couple café au lait spots and mentioned that she should be tested for NF1. She also thought Eliza was delayed in her gross motor skills and a few other things. I really dragged my feet and I even changed pediatricians because I thought she was really going overboard with all the referrals she gave us to go all the way to Seattle when she seemed completely fine to me.
Our next pediatrician also mentioned seeing a pediatric neurologist to check for NF1 and recommended that Eliza do a little bit of physical therapy to help her learn to walk since she was not walking or standing by 12 months old. Eliza finally learned to walk around 20 months. Physical therapy did help quite a bit with her strength!
We spent a whole day driving to Seattle to see a pediatric neurologist with Eliza to check for NF1 and the results were…100% inconclusive. I was really frustrated at this point because I thought there was NO WAY Eliza had NF1 after googling it, especially since I had the same café au lait spots that she did and I didn’t have NF1 (spoiler alert: I do). She recommended seeing a pediatric ophthalmologist to check for any eye symptoms and coming back in 6 months for another evaluation.
I drug my feet even more but we finally saw the pediatric ophthalmologist in Bellingham. They were trying to get Eliza to read an eye chart in a MIRROR at age 2 which was almost comical. The whole appointment seemed like a waste of time. That doctor did recommend that we go back to Seattle Children’s to see another pediatric ophthalmologist since one of Eliza’s eye nerves looked slightly elevated, but she also said this was normal in a lot of cases.
By this point I felt like I was just going from appointment to appointment, referral to referral for no reason – paying $200+ for each specialist visit with no one giving concrete info. Again, Eliza seemed COMPLETELY normal to me. Fast forward 3 months and we were back in that pediatric ophthalmologist’s chair being sent to Seattle Children’s ER. Turns out the doctors were right and I was wrong.
Once Eliza’s optic glioma was diagnosed with an MRI under general anesthesia we met with the pediatric ophthalmologists. They confirmed NF1 and referred us to the brain tumor team at Seattle Children’s. Our doctor said when optic gliomas are discovered, they usually just monitor them with MRIs first before jumping right in to chemo. Because Eliza’s eye bulged out so fast they decided to treat it with chemo right away to avoid further vision damage. The doctor assured us this was a BENIGN tumor (meaning it would not spread to other areas of her body) but it was growing so it could cause damage in the area that it was growing.
The “gold standard” in treating optic gliomas caused by NF1 that has been used for years and years is a combination of Carboplatin and Vincristine. I’ve seen on other NF1 pages that this isn’t always the first course of treatment across the country, but that is what our providers chose. Eliza had a port placed under general anesthesia – once her port was in we would need to take her to the ER any time she had a fever for as long as the port was in to rule out central line infection.
In the big scheme of the cancer world and chemo, Carboplatin/Vincristine seems relatively mild. The major side effects that the doctor discussed were hair loss, appetite loss and nausea, constipation, and neuropathy (nerve pain). We did foot stretches every night to help with any neuropathy but Eliza never really seemed to complain about nerve pain. She did lose most of her hair, but was never completely bald. She did lose her appetite and had to take nausea medication pretty often. She almost needed to have an NG (feeding) tube placed in her nose but she just barely skated by without one. There are very few long-term side effects of this chemo.
Eliza started Carboplatin/Vincristine on September 7, 2018. She started with “induction” chemo where she got infusions over 1.5 hours every week for 10 weeks then started 5 weeks on/2 weeks off cycles. These cycles are numbered officially by days, not weeks. This was supposed to last for about a year but in December her eye swelled up way worse than it had been before even though her MRIs showed the tumor was shrinking. Her doctor switched her to 8 weeks of Avastin since they thought her eye bulging out was a result of inflammation around the tumor area. She got Avastin infused every other week for 8 weeks. The Avastin worked wonderfully and her eye swelling went down to look almost normal again. It was also around this time that the ophthalmologist said Eliza was most likely permanently blind in her right eye.
After her 2 months of Avastin, Eliza went back on her Carboplatin/Vincristine cycles. It was around this time that the rest of her long hair fell out. Unfortunately, in May she developed an allergic reaction to the Carboplatin and broke out in hives all over during her infusion. They had warned us this could happen so their plan was to premedicate her with Benadryl and steroids and run the infusion over 3 hours instead of 1.5 hours. She was able to handle this for a few weeks until she had another hives reaction despite the Benadryl and steroid premedication. If they would have kept giving her Carboplatin every week her body would continue to react more and more and eventually she would have trouble breathing so they decided to stop Carboplatin/Vincristine and switch to Vinblastine, a cousin drug that studies have shown works equally as well. She now gets Vinblastine once a week through her port IV access and it only takes about 5 minutes to administer the medicine. Vinblastine seems to have less side effects than the Carboplatin/Vincristine did for Eliza. The one side effect we did see is that the new chemo affects her white blood cell count quite a bit more so her immune system is quite a bit more compromised with her new chemo than the old one.
Eliza will finish her Vinblastine treatment in October. She will continue to have MRIs every 3 months for two years. After 2 years she will have MRIs every 6 months for another year. Next, she will have yearly MRIs for 2 years. If everything is stable at that point they will only do an MRI if some symptom shows up, otherwise she will be done with MRIs!
As far as I understand, once chemo is done for Eliza, there is a 33% chance her tumor(s) will start growing again and a 67% chance they will stay the same/shrink on their own. Hopefully she will never need treatment for the optic gliomas again, but if she does they will start a newer drug called a MEK inhibitor which is just a pill. These drugs seem promising but just have not been around for as long as the IV chemo treatments so the long-term effects of them have not been studied quite as long.
Eliza does not seem to notice being blind in one eye. She once even asked me which eye was my “light eye” and which eye was my “dark eye” since she has a “light eye” and a “dark eye.”
She will continue to be seen by her NF1 doctor every year to monitor for any other NF1 related things that could come up. She sees the ophthalmologist every 3 months right now and that will also space out to every 6 months and then to every year along with her MRIs. Worst case scenario, Eliza could go blind if her tumors grow, but the doctors are extremely optimistic that her vision will stay where it is at.
There are a lot of unknowns with NF1, but they really don’t worry me too much…maybe they should more, but the fact that I have NF1 and have had no issues makes me optimistic that Eliza can have a full, healthy, normal life! Eliza has adapted to having chemo and going to the doctor incredibly! She was so scared and would scream the first few times she had her port accessed, but now she hops in the chair like a champ! She is a beautiful, funny, happy little girl and I just love her so much!