Meet Mia and Maya.These 2-year-old twins have been diagnosed with a neurological disorder called Metachromatic Leukodystrophy (MLD), and I had the absolute pleasure of photographing them this evening.
The girls have been going through a lot this year. They started out almost completely walking, talking a good bit, eating everything under the sun, and playing all the time. They were growing and doing everything they should’ve been doing.
At first, we were seeing the doctors to figure out what was causing a delay in walking and speech, we were already seeing therapists so they wanted more. We had PT, OT, developmental and speech therapy every week.
They then wanted to do a sleep study to look at their muscle tones while they sleep. That led to mild sleep apnea, which led to them both getting their tonsils and adenoids removed in May.
We kept getting blood drawn, irons tests done. They couldn’t figure anything out. They just thought it was the way they sat and their hips were getting misaligned. They thought they had weak ankles. I was even told that we don’t work with them enough that it was our fault they were delayed. We worked with them on everything, every day. It was frustrating trying so hard and not getting anywhere.
Sometime in February, Maya wouldn’t put pressure on her left leg much which led to her walking on her knees more and she wouldn’t stand at the table or at anything else much. We worked with it with therapy for months. Maya would walk on her knees and Mia crawled to get around. They could walk but not on their own without support.
In June we noticed that Mia would crawl a few feet, quit, then lay down. A week later she just laid on the floor and didn’t do much. We knew something was seriously wrong at this point. We took her into the dr to figure something, anything out. The only thing they came up with is that she was constipated, come back in a week for follow up. Well, she wasn’t constipated anymore in a week and they still had no clue. More blood and more urine. We ended up telling them if they didn’t find something out very soon we would be taking them somewhere else that would figure it out, boy did that get them on their feet.
The next week they admitted Mia into the hospital for testing. They took more blood and more urine and she had a brain and spinal MRI done. The MRI showed that she had an abnormal amount of white brain matter compared to the one she had done in September of last year. The brain matter was blocking or delaying the signals from the brain to the nerves in the muscles. The nerves have a myelin sheath on them and that was slowly breaking down exposing the nerves, which was causing pain. The dr diagnosed Mia with a brain disease called Metachromatic Leukodystrophy. A rare brain disease that they knew nothing about.
Maya then had a brain MRI done to see if hers was the same way since they are twins. It was, and she was diagnosed with the MLD as well.
They did lots of testing, more blood, more urine, and genetic tests. They think that it was passed down from somewhere in our families. They don’t know.
We were told about a specialist that deals with MLD and that she travels the world to work with rare diseases. We were working to get seen with her as soon as possible.
The girls had a urine test done that looks at different levels of stuff in their urine (I can’t remember exactly what the name of it was). But it came back positive. The dr said from that they could see that their enzymes weren’t breaking down in the cells the correct way, which was causing the brain matter to grow abnormally, blocking the signals. They then diagnosed the girls with Saposin B Deficiency. Which is rarer than the MLD.
Within the months of June to October they stopped walking and crawling, they stopped sitting in regular chairs, they stopped playing with others and their toys. They stopped speaking as much, they stopped feeding themselves, and stopped drinking with sippy cups. They became weak and shaky, they became irritated with most things. They became constipated. They just want to lay in bed or in their recliners. They were put on purée foods that are fed to them to stop them from choking, they drink through a straw that is held for them. And they sleep a lot.
They were given muscle relaxers and nerve pain medications.
This week we were finally able to go see the specialist and her team in Pittsburgh. They redid all the tests and more than we had previously had done. She had them do vision and hearing tests, nerve tests. They had hip, spine, stomach, and chest X-rays done. They had a swallow test done. An MRI and a lumbar puncture done and PT and OT evaluations.
From the results she could see at the time, the girls have good hearing and vision. Maya’s left hip is dislocated a little bit from her not walking on it and from her muscle cramps pulling on it. They are 2 years old with the understanding and development of a 10-month-old. They aspirated everything in their swallow test, which means they inhaled most of it into their lungs. Which is now leading them to get a feeding tube put in.
The specialist told us that since she is still doing research she couldn’t tell us a treatment plan or anything about life expectancy, to just keep them comfortable with more medicine and some therapy.
Because of their full-time care requirements now that they are unable to sit up and talk as well as their numerous doctor’s appointments, financial assistance is needed for transportation, medical bills, and everyday care expenses. Please consider donating to their medical fund here: Mia and Maya Stiles Medical Fund.