Where to begin with Mazie’s story??
At the 20-week ultrasound, we heard “It's a girl. And it looks like there’s something wrong with her kidneys.”
Mazie was born with severe hydronephrosis secondary to bilateral duplicated collecting systems. It's a rare and complex diagnosis, but to summarize, her kidneys and bladder did not form correctly. We were told her MRI was “the most impressive one” her surgeon had ever seen. It is still shown to medical students and residents at Children’s Hospital of Philadelphia (CHOP). Mazie had five surgeries before the age of two to correct the anomaly. She will always be at risk for urinary tract infections (UTI's).
We started seeing delays in Mazie's development around 10 months old. She was not feeding herself or crawling and still often fell over from a sitting position. We were often told she was delayed because of all the anesthesia to which she had been exposed during her surgeries. By 18 months, she qualified for early intervention as she was not speaking and was now further behind in all areas. At 2 years, 2 months and 2 days of age, Mazie was diagnosed with autism. It was like a movie. After the doctor said the word autism, the world slowed down. I couldn’t hear her talking anymore, and everything was a blur. After a few days, I started researching. Some things didn’t fit—autism didn’t explain her very low tone, very delayed fine motor skills and moderately delayed gross motor skills. It also didn’t explain her extreme fatigue.
After two years of doctors appointments and wait lists and tests and dismissals by some, we got an answer: Mazie has the KCNB1 mutation, AND a muscle biopsy showed mitochondrial disease. As far as we know, Mazie is the only person in the world with both of these diagnoses.
Mazie’s biggest current medical challenge is ketotic hypoglycemia. Her body cannot easily maintain a safe blood sugar and will quickly go into ketosis. We manage this with diet when she is well, but it doesn’t take much of an illness to send her to the hospital for days.
As far as we know, Mazie has not had a seizure, which puts her in the minority of those with the KCNB1 mutation. However, she has had several abnormal EEG’s. She is followed by 12 different physicians and receives PT, OT and speech therapy in school and privately. Her autistic characteristics have greatly decreased through years of Relationship Development Intervention (RDI) therapy. Her mitochondrial disease is treated with a heavy regimen of supplements and nutrient-rich smoothies – seven rounds per day in all – and, after a second UTI this year, she is currently back on prophylactic antibiotics. Thankfully she takes all of these like a champ.
Mazie’s first word was “five,” spoken at 28 months of age. She works hard to improve her receptive and expressive language in therapy almost daily. There is lots of echolalia, but short conversations are emerging. Mazie loves to sing and quickly learns the words to any songs she hears. She also loves to dance! She is learning to read and still loves letters and numbers. Mazie’s smile can light up a room the instant she walks in. She is friendly and loves to be around people. Her favorite person is her big brother, Carter. Although they are six and half years apart, they have a bond as strong as that of any siblings. Every morning they greet each other with genuine smiles and can always make each other laugh. They also bicker and annoy each other, which brings me as much joy as watching them play basketball together.
Mazie struggles to do the simplest of daily activities, and she does get frustrated quite easily. I imagine I would too if everything was so difficult for me. She also has an ability to find joy in the smallest accomplishments and observations. A gust of wind makes her giggle. Bright flowers, changing leaves and animals always bring her happiness. She loves to go for walks, especially on the beach, and she calls Target her happy place.
We do not know what Mazie's future holds. So for now, we try to live as she does, finding the joy in every day.
At the 20-week ultrasound, we heard “It's a girl. And it looks like there’s something wrong with her kidneys.”
Mazie was born with severe hydronephrosis secondary to bilateral duplicated collecting systems. It's a rare and complex diagnosis, but to summarize, her kidneys and bladder did not form correctly. We were told her MRI was “the most impressive one” her surgeon had ever seen. It is still shown to medical students and residents at Children’s Hospital of Philadelphia (CHOP). Mazie had five surgeries before the age of two to correct the anomaly. She will always be at risk for urinary tract infections (UTI's).
We started seeing delays in Mazie's development around 10 months old. She was not feeding herself or crawling and still often fell over from a sitting position. We were often told she was delayed because of all the anesthesia to which she had been exposed during her surgeries. By 18 months, she qualified for early intervention as she was not speaking and was now further behind in all areas. At 2 years, 2 months and 2 days of age, Mazie was diagnosed with autism. It was like a movie. After the doctor said the word autism, the world slowed down. I couldn’t hear her talking anymore, and everything was a blur. After a few days, I started researching. Some things didn’t fit—autism didn’t explain her very low tone, very delayed fine motor skills and moderately delayed gross motor skills. It also didn’t explain her extreme fatigue.
After two years of doctors appointments and wait lists and tests and dismissals by some, we got an answer: Mazie has the KCNB1 mutation, AND a muscle biopsy showed mitochondrial disease. As far as we know, Mazie is the only person in the world with both of these diagnoses.
Mazie’s biggest current medical challenge is ketotic hypoglycemia. Her body cannot easily maintain a safe blood sugar and will quickly go into ketosis. We manage this with diet when she is well, but it doesn’t take much of an illness to send her to the hospital for days.
As far as we know, Mazie has not had a seizure, which puts her in the minority of those with the KCNB1 mutation. However, she has had several abnormal EEG’s. She is followed by 12 different physicians and receives PT, OT and speech therapy in school and privately. Her autistic characteristics have greatly decreased through years of Relationship Development Intervention (RDI) therapy. Her mitochondrial disease is treated with a heavy regimen of supplements and nutrient-rich smoothies – seven rounds per day in all – and, after a second UTI this year, she is currently back on prophylactic antibiotics. Thankfully she takes all of these like a champ.
Mazie’s first word was “five,” spoken at 28 months of age. She works hard to improve her receptive and expressive language in therapy almost daily. There is lots of echolalia, but short conversations are emerging. Mazie loves to sing and quickly learns the words to any songs she hears. She also loves to dance! She is learning to read and still loves letters and numbers. Mazie’s smile can light up a room the instant she walks in. She is friendly and loves to be around people. Her favorite person is her big brother, Carter. Although they are six and half years apart, they have a bond as strong as that of any siblings. Every morning they greet each other with genuine smiles and can always make each other laugh. They also bicker and annoy each other, which brings me as much joy as watching them play basketball together.
Mazie struggles to do the simplest of daily activities, and she does get frustrated quite easily. I imagine I would too if everything was so difficult for me. She also has an ability to find joy in the smallest accomplishments and observations. A gust of wind makes her giggle. Bright flowers, changing leaves and animals always bring her happiness. She loves to go for walks, especially on the beach, and she calls Target her happy place.
We do not know what Mazie's future holds. So for now, we try to live as she does, finding the joy in every day.