The phone rang. It was our pediatrician and he wanted to run some tests on my daughter. Her teachers had noticed some behaviors that seemed “off” for her age compared to her peers. She had been falling a lot at school. She wasn’t able to run and jump like the other kids, and she wasn’t able to put full sentences together at the age of three and a half. She was also very small in comparison to the other kids her age, which wasn’t in and of itself a red flag, but when taken into consideration as a whole, became a concern. After several months of consultations, visits to various specialists and countless tests which included a bone marrow test, MRI, bone scans and finally, a liver biopsy, we received a call late one Friday night only to be told that our daughter had severe cirrhosis of the liver. When I asked the doctor what the next step would be, she couldn’t give me an answer. My daughter’s tiny little body was failing her and no one could tell me why. The best hope the doctor could offer was a promise she would present the case to her colleagues at an upcoming medical conference she would be attending in two weeks. You can imagine my response; “You call me at 4:45 on a Friday night to tell me my daughter is in jeopardy of a liver transplant and you’ll bring it up in 2 weeks?!” end conversation.
I hung up the phone, had my five minute pity party, got my shit together and started taking action myself that same evening. After scrolling through medical journals online, examining countless articles related to her symptoms she was already being treated for with a fine tooth comb, and hours of cross-checking those findings with symptoms her current medical team had no explanation for, I came across her soon to be diagnosis. It matched up with nine out of ten of her current symptoms and touched on the pieces of her mystery illness she was currently receiving treatment for but couldn’t explain their origins. First thing that following Monday morning I called the same doctor I had spoken with that previous Friday night to let her in on what I had found and to request a test be ordered ASAP. I received some backlash; “What makes you think she has this?” “That disorder is extremely rare you know.” “That’s a very expensive test and insurance may not cover it.” “I don’t think that’s what she has.”
I took several deep breaths, listened to my Mama Bear instinct and assured the doctor I would continue to call around until someone agreed to order the test; reluctantly but eventually, she conceded. After five days of anxiously awaiting a call back from the specialist, my instincts were confirmed. My daughter had a very rare, about 1 in 100,000, genetic metabolic disorder known as Tyrosinemia type 1. In a nutshell, patients living with tyrosinemia are not able to break down tyrosine, which is an amino acid and building block of most proteins. They lack one of the enzymes in their bodies necessary to break down and process the amino acid and therefor, tyrosine levels become elevated in the blood, can lead to kidney and liver failure and eventually death if left untreated. Most cases are diagnosed within the first seven days of life, but in my daughter’s case, she was nearly 4 years old when she received her diagnosis. Not only did she have severe cirrhosis of the liver, her kidneys were malfunctioning, she had developed rickets (also known as knock knees), and her physical and neurological growth had stalled for approximately a year; during the most crucial time for physical, intellectual, and social-emotional development. Within a week we were referred to a genetic metabolic specialist in our area, and as you can imagine, they are few and far between. We happened to reside in an area where they offered some of the best services and support in the country for children and their families living with a rare genetic metabolic disorder. Despite this life changing diagnosis, we were hopeful and blessed that my daughter would be able to live a normal, happy life and we had the resources we needed right in our own backyard.
She’s almost 11. Over the past 7 years she has been handed more than her fair share of mountains to climb. She received intense physical therapy to build muscle and strength in order to run and jump and increase her stamina for normal, day to day activities. She underwent two surgeries to correct the bone deformities in her legs. She still receives speech therapy, occupational therapy and just recently began vision therapy. She takes several medications and follows a strict diet in which she can only consume 17 grams of protein a day. That also means that her meals, school lunches, and what she can order in a restaurant often look very different from food choices of her peers. She is currently in fifth grade and reads at about a second grade level, has dysgraphia, she is behind in her fine motor skills, and she has diagnosed Attention Deficit Disorder. She receives an IEP at school and has an amazing team that supports her and her unique way of learning. For that I am eternally grateful; despite the cards that this warrior has been dealt, she absolutely loves school and is thriving in her own way. She is happy, outgoing, always optimistic, sees the beauty in everything, love singing and dancing and all things glitter and fashion. She has taught me way more about life than anything else I have experienced in my nearly 42 years.
Rebecca Dolan is a loving mother, caring daughter, and is always empowering women to heal their wounded hearts.