First, my apologies for the huge gap between updates. Last week was, well, “one of those weeks.” Between work, sleep, and the multitude of birthdays, I nearly forgot to breathe and did forget to regulate my temperature.
Let’s start out with the birthdays! I want to wish a HUGE happy birthday to my friends and family:
My Daddy (August 15)
Cousin Lindsay (August 16)
Former Roomie Dorothy (August 16)
My Mama (August 18)
My “niece” Sasha (August 20)
My Uncle Mark (August 20)
My Gammy (August 21)
My other “niece” Alexis (August 21)
You guys make my world and I’m so blessed that you’ve been in my life for another year. I wish I could have been closer to all of you to help you celebrate your special days. Unfortunately, the birthday honorees live in five different states from Massachusetts to Texas to California so it was, alas, impossible. I do hope you all celebrated in the style worthy of your awesomeness.
The one birthday I did get to celebrate was my little niece Sasha. Sasha is a spirited, joyful, engaging, empowering, strong, and inspiring 5-year-old. She also knows how to push your buttons and get her way with the batting of her eyelashes. She reminds me a bit of myself at that age, as I’m sure my parents are able to attest to. Sasha has also come up against more in her 5 years than most people have in a lifetime. Sasha was born with primary immunodeficiency disease and mitochondrial disease. But her many battles have given her more spunk than scars, and it does show! I am so blessed to have her in my life as she invigorates my spirit and gives me one more reason to fight for a cure. Thank you, Sasha. And a very happy 5th birthday to you!
The week leading up to Sasha’s birthday, however, was a rough one. I can’t exactly pinpoint what was “off,” but something was. Sunday and Monday I worked long full days, and Monday was spent at the New England Aquarium. I usually try not to schedule long days back-to-back because it take so much out of me to recover. Tuesday proved why. I can’t exactly say that Tuesday was miserable because I slept all but 4 hours of the day. Yes, my body required 20 hours of sleep to make up for getting – gasp! – only 12 hours of sleep on each Sunday and Monday. Now, you may think, “Only 12 hours?!? I wish!” But for some reason, my body has been requiring more and more sleep the last couple months and, in particular, the last couple weeks. We currently attribute this to being off the mito cocktail in preparation of my biopsy and are hoping this isn’t a new “norm,” but rather my body trying to make up for the absence of the supplements. Cross your fingers.
Wednesday was another long work day. After the previous day, I was re-energized and able put in 5 full hours of mathematics, poetry, art, and philosophy. I love finding the topics that will engage, challenge, and entertain my kids. It can be time-consuming, but so worth it.
Thursday was back to immunology to check in and get test results. Although it was mostly good news, it gave us more questions than answers. The good: my body adequately produces immunoglobulin to fight off infection. The bad: my body doesn’t (or can’t) properly use the immunoglubulin to fight off infection. My rock-star immunologist attributes this to some complex metabolic pathway. How? He has no clue. Brilliant! The test results also affirmed that I have really bad allergies (wicked high IgE) and my anemia isn’t as controlled as we had thought. Unfortunately, not much we can do about the IgE and the anemia is being “treated” with the highest dose of iron supplements I can take with my GI issues. But the good news definitely outweighs the bad because I won’t have to start infusions for my immune issues, just take the usual precautions!
On Friday, we took the drive in to Children’s Hospital Boston (yes, most of my specialists are ped doctors due to the nature of mito). I had an appointment with Dr. Berry at 3:30 so we showed up early and settled in for the hour-long wait to get in. Dr. Berry is an amazing metabolism and genetics doctor who specializes in mito. I have quite a few friends who see him themselves or have children who see him. My first impression: I would’ve waited five hours to get in to him. He sat and listened to us for over 90 minutes. He performed tests, asked questions, and really listened. He’s looking forward to following me and helping out once we have the biopsy results back. He did express confusion as to why I was getting the biopsy prior to genetic testing, but agrees that I should have the biopsy done as soon as possible so I can get back on the mito cocktail. Probably the worst part of the appointment was hearing that mito was the only thing that made sense and hearing the dreaded “MELAS” come up. Symptomatically, MELAS makes sense, but because of the progression and nature, it’s certainly not something you want to hear. But because this is only a theory and not a firm diagnosis, there is still hope.
Luckily, Sasha’s birthday festivities were able to keep my mind off this news. Upon returning from Boston, we went to celebrate with her family. Because it was nearly her bedtime, we just got in a quick happy birthday and watched her open one gift because Saturday was…
CANOBIE LAKE PARK DAY!!!!
Canobie Lake Park is a small amusement park locate in Salem, NH. This excursion was my and Keith’s first to the park. For my So. Cal friends and family, it’s a bit like our old haunt Castle Park. Because it’s a smaller, family-oriented park, the policies for wheelchairs are far more amenable than parks like Six Flags. And that’s a good thing because we had 4 mitoids in wheelchairs:
The Wheelchair Brigade: Will, Stef, Me, and Miss Sasha, the birthday girl
The day was absolutely amazing. We went on all the rides we wanted to at least once and even got to sit front row at the animal show. Keith got called on stage during the show to hold a huge python and Stef, Will, Sasha, and I got to hold it after the show was over. I’ll post the pictures once I can hunt them down. The day closed with an awesome fireworks display and we were off.
Apparently, I don’t recover well from amusement parks anymore (which we kinda knew from our Six Flags excursion) because Keith couldn’t physically wake me the next day at 1pm for Sasha’s Super Mario Brothers-themed birthday party. He carried me out to the couch and left me with my phone so I could call when I woke up. I didn’t. Keith called, waking me up, around 7pm. Yes, you read that right: I slept until 7pm following our trip to Canobie. I was devastated that I missed her party, but knew I needed that sleep.
I made up for missing the party the following day when I went over to play “Canobie Lake Park” with Sasha, Will, and Ryan (their cousin). I lasted almost two hours of play before crashing on the couch until the UMDF-New England conference call. On September 25th, we’re planning a Mitochondrial Disease Patient Education Meeting and Resource Faire at MIT. Three of my doctors will be speaking at the event, so I’m stoked! If you’re in the Boston area, it’ll be incredibly informative and we’d love to have you – mito patient or not!
Before I sign out for the day, I want to ask you to send your positive thoughts and/or prayers to Children’s Hospital Boston where Sasha is paying for the fun of the last few days with an admittance. Such is the life of someone with mito… 😦
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