May 2017 - After a normal pregnancy Mac was born without any major problems. The hospital staff noticed that his head was a larger circumference than what would be considered a normal range. They took him back to NICU for a brief time and determined that everything seemed fine and we’d just keep an eye on it.
After we got Mac home, we sensed something was wrong. He cried a lot. Almost 24/7. It was near impossible to put him down to sleep, he seemed to throw up more than our oldest and he was in pain all of the time. After multiple visits, the doctors dismissed all of this as the behavior of a normal, colicky baby.
Mac’s Mom had the “Mom intuition” to push the doctors for more testing. First we met with a specialist that looked at how is skull plates were coming together. Maybe that was the cause of his unusually large head and constant pain. After examinations and MRIs, they determined that that wasn’t the issue. Next we were referred to neurosurgery for more MRIs and consultation. Neurosurgery informed us that he suffered from hydrocephalus, which is spinal fluid building up in his head and causing excess pressure. This was likely the major cause of his constant pain. They also noticed on the MRI that Mac had a malformation of the skull. The malformation, called Chiari, did not allow his brain to sit in the correct spot in his skull and would need surgery to correct. We thought that this might be the cause of his hydrocephalus and the surgery could correct it. At 5 months old Mac had his first brain surgery to take out a part of his skull bone called a decompression. The surgery went very well thanks to the Dr. Kim and the team of Neurosurgeons at Children’s Hospital of Wisconsin. Even though the surgery was a success, Mac still had too much pressure in his head due to an excess of spinal fluid in his brain cavity. The Chiari decompression did not fix the hydrocephalus.
Chiari ‘zipper’ scar
Hours after Chiari surgery
The neurosurgery team suggested we try a different surgery to open a small hole in his ventricle to get the fluid to drain back into his spinal column and lower the pressure. It was a bit of an experimental surgery and it only had a 50% chance of fixing the hydrocephalus. A month later Mac had his second brain surgery. This surgery was not successful in reducing the pressure. Since Mac was still suffering from the hydrocephalus, the neurosurgeon suggested that he gets a shunt. A shunt is an implanted device, like a valve with a tube down into the abdomen. The shunt would allow the excess spinal fluid to be moved out of Mac’s head and into his abdomen where it would be absorbed by the body thus reducing the pressure in his brain cavity. The third brain surgery (When Mac was 10 months old) was a success! The shunt did it’s job and reduced the size of Mac’s ventricles alleviating the high pressure in his brain cavity.
Post op room
Even after the surgeries, we still didn’t have any answers on why this was all happening and at 18 months old, Mac was diagnosed with Malan Syndrome. A non-inherited genetic disorder. He got the diagnosis after a full genetic panel determined that he had a variant on the NF1X gene. Mac is one of about 200 people worldwide and the only one in the world tested with his exact gene duplication. Since his disease is so rare, we set off to learn about Malan and how we could give Mac the best tools to thrive. He started a therapy regimen that included swimming, physical therapy, occupational therapy, horse therapy, music, and speech therapy. He sees neurosurgery, neurology, spine, GI, genetics, vision, behavioral health, and other specialties on a regular basis. A daily regimen of multiple medications help with some of the symptoms. We are pushing the doctors to not just follow a protocol, but to help provide solutions for something that they have never seen before. Our whole family has done cheek swabs to help researchers have the information needed to find a cure. Mac’s DNA can be found in multiple databases in genetic research labs across the country.
Some of Mac’s Symptoms from Malan Syndrome
Malan Syndrome information packet