Notes from a Rare Disease Mom

When we dropped Thea off at my mom’s house that November day and left for our day trip, she seemed fine.   She was excited to spend the day with her Nana and kissed us goodbye as we left with no complaint.   Tyson and I enjoyed our day in LA and as the evening approached, we said good bye to our friends and prepared to make the drive home.   As we walked toward our car, my phone rang suddenly.   My mom was on the other line letting me know that Thea had been acting strange and tired for the past couple of hours and that she had just thrown up.   My heart dropped as I told my mom that she should take Thea to the hospital.   Thea can’t fast and throwing up means she hasn’t got any food in her stomach to help her cope with any stress her body is under.      Thea and her Nana We quickly paid our parking fee and pulled out onto the freeway.   We were only an hour away, but this was LA on a Friday and our car wa...

Once a parent from our support group posted about her day.   It was full of battling with her insurance company, driving to therapies, and a daughter who wasn’t feeling well.   “Does this get any better?”   She asked in frustration.   Her question stayed with me for days afterward because I could picture exactly how her day was going.   I am very familiar with days like that.   I wanted to reassure her but when I tried to envision a time when life would be easier, my experience with life so far told a different story.   Sometimes my life gets easier and sometimes it gets harder, a lot harder.   There was a time when I thought college was hard, and now I look back at those carefree college years with envy...   I don’t think there is ever a life free of difficulty, but I also don’t think the bad days last forever.   Some days gratitude and joy come easy and some days they just don’t.   I was talking to another mom at Th...

The Christmas holidays were a wonderful time for our family.   Tyson had the whole week off plus a few extra days for the New Year.   Time seemed to move more slowly as we played games, ate foods with ridiculous amounts of butter, and stayed in our pajamas until noon.   Thea loved all of the decorations and the lights.   When we drove at night, Thea would exclaim over the lit trees, the reindeer on roofs, the giant wreaths, and the candy canes.   We went for strolls around the block at night enjoying the holiday displays and meeting neighbors for hot chocolate and small talk.   On Christmas Day, we woke up and Thea found a baby doll crib under the Christmas tree from Santa.   Her eyes grew wide and, without even touching the crib, she ran up the stairs to her room.   She dashed to her baby doll and whispered in quiet awe, “Baby!   Santa! There’s a bed for you!”   She returned to the Christmas tree and the cradle and snuggled her baby...

The first time the doctor suggested surgery to straighten Thea’s eyes if patching didn’t work, I dismissed it.   I was sure the patching would work, and we would be fine.   But despite our efforts, her eye stayed shifted to the side and over time it grew worse.   In fact, both eyes had started to wander in opposite directions whenever she wasn't looking straight at us.   After three years of patching, the doctor again mentioned surgery.   I told her I would need to talk to our Nero-metabolic doctor.   I was sure that he would say no to a surgery.   She had a rare disease.   Anesthesia would be risky.   But to my surprise, my Neuro doctor also recommended the surgery.   He said it was not just a cosmetic surgery.   It could help with her balance, and she may have better vision in the future because of it.   I went ahead and scheduled the surgery with misgivings.   Tyson was even more uncomfortable.   We postponed...