I had a baby at the end of June 2020. Two weeks later we found out she has a rare genetic disorder called Homocystinuria which was later confirmed that she has the rarest type due to severe MTHFR deficiency. About a week later she started her medication. I also had to learn how to give her daily B12 injections; those ended after the genetic tests ruled out a cobalamin issue a few weeks later. Before starting the medication, she rarely had her eyes open. So about two days after starting and she became more alert, I noticed she could not keep her eyes focused. They constantly rolled up. I sent a video to her team of specialists 4.5 hours away. They said to get her to a hospital since it could be a sign of seizures. While at the hospital, the doctor saw what she thought was a seizure (I believe I saw three that day) and let the specialists know. The specialists had us flown to them. We arrived close to midnight. She was in the hospital for 3 days while they ran tests. She was 3 weeks old at this point.

Thankfully, things have gotten better for her since that time. A lot of my worry is about the unknown. Since it is so rare (about 50 documented cases worldwide) it is hard to say what complications she may have growing up. Developmental delays seems to be one of the common symptoms, but this condition is almost never caught this early. I think her, and one other baby who was born a month after her, are the only ones to catch it and start medication within the first month.

I have a 3 year old. She sustained a brachial plexus injury at birth. She’s been going to therapy since she was three weeks old. She has good mobility and adapts so well. Some movements are hard for her and she holds that arm differently. October/November 2020, she saw an orthopedic and he took X-rays. It showed that her shoulder joint was misshaped, will most likely developed arthritis as a teenager, and there’s nothing he can do. I think she’s starting to realize that some things are harder for her to do because of her arm. Earlier this month, we had another appointment with the orthopedic. He suggested a tendon transfer surgery. It sounds very promising. We are looking into traveling to a surgeon who specializes in this surgery.

Around September/October 2020, I developed stomach issues. I was having bloody diarrhea for over a month. I was later diagnosed with ulcerative colitis. Oh, and I accidentally fell through the attic while getting Christmas decorations. Thankfully, I didn’t have any severe injuries. Sore for a few days and scraped my legs.

It feels like so much is going on at once. Both daughters go to therapy weekly. The youngest has doctors appointments every 2-4 months 4.5 hours away. We’re looking into getting the surgery for the oldest. We would have to fly to the place we’re considering and she’ll be in a full arm cast at a 90 degree angle for 3-4 weeks. I feel like I have PTSD from my oldest daughter’s delivery and what we went through with my youngest at 2 weeks old. I have highs and lows, but I really needed to get all of this off my chest.