My daughter, Carson, was born in June 2020. I received a call 1.5 weeks later about Carson’s abnormal newborn screening. I was told it was most likely an error, but they were suspecting homocystinuria and needed to redo the newborn screening. I ended the call confused and scared.
A week later, I received a call confirming that Carson had homocystinuria due to severe MTHFR deficiency. A geneticist wanted to see us immediately. The first appointment consisted of explaining the condition, examining Carson, blood work, and a genetic test. She needed to start taking Cystadane (Betaine) and daily B12 injections (at least until we received the results to the genetic test at which point she no longer needed it). Carson started both of those within two days of seeing the geneticist.
For these first three weeks, Carson barely gained any weight and she spent most of the time sleeping. By this point, she had been taking the medications for about 3 days, and I noticed she started to be more alert. With her eyes now staying open longer, I noticed that she had trouble focusing them. She was trying to look at me, but her eyes were uncontrollably rolling up. I took a video and sent it to her doctor. I was told to get her to the ER immediately, that it may be a sign of seizures. I saw Carson have three seizures that day, one of which was in the presence of the ER doctor. I will never forget the screech she made during a seizure. After the doctor witnessed a seizure, she immediately called Carson’s team of specialists. They wanted Carson flown to their facilities 4 hours away to monitor her.
Carson was in the hospital for 3 days. She had an MRI and an EEG. Her Cystadane was also increased. I started noticing major improvements the second day. That was the first time Carson was able to open her eyes and stare at me. All tests were looking good so she was discharged. Carson had not even been taking Cystadane for a week at this point. I think as it was starting to lower her homocysteine, we were able to notice symptoms that were previously hidden by her constant sleeping.
Carson had a one month well visit exactly one week after she was brought to the ER. After not gaining any weight for the first three weeks, she gained over one pound in only one week of starting Cystadane.
Carson is consistently 3-4 weeks behind developmentally. It was almost as if Carson completely “lost” that time before she started taking Cystadane.
In the beginning, we were traveling to Gainsville (4+ hours one way) every two months to see a geneticist, metabolic specialist, neurologist, and ophthalmologist (homocystinuria can cause dislocated lenses). In addition, Carson has to get blood work to check her homocysteine levels every two months.
Carson is the sweetest and happiest baby. It is impossible to look at her and be able to tell she has a rare disease. The sole reason she is doing so well is because her condition was diagnosed early AND she started taking Cystadane before more severe symptoms developed. She will ALWAYS have to take this medicine. It has to be shipped from a rare disease pharmacy in Memphis. If we go out of town and forget it, it’s impossible to run to the nearest pharmacy to pick up more. Carson has to take it three times a day mixed in a liquid. I am told it is very bitter.
Most of the children diagnosed with homocystinuria due to severe MTHFR deficiency were diagnosed later in life after more severe symptoms had developed. I have personally spoken to a few of their parents. Some of those children have had an incredibly difficult time.
I hope that a cure can be found. Unfortunately, it seems that a cure is many years away. Since this disease is so rare, very few people even know about it, and even fewer people are fundraising to provide the funds needed to start a research grant. A few families from around the world who have children with this condition are trying to raise the $40,000 needed to start a grant that will research a cure. Donations can be made here:
https://secure.givelively.org/
Thank you,
Grace Talbert
