Zachary Douglas Townsley was born a healthy baby boy on May 31, 2000 earning a 9 on the apgar scales. Pronounced as a perfect, healthy baby boy by attending physicians.
However, when he turned 1, he could not crawl so at his one-year doctor visit, the doctor sent him to a neurologist. The neurologist thought that he was “developmentally delayed.” At a little over a year he learned how to crawl and walk, but by age two he was not walking well so the doctor sent him to get a physical therapy, occupational therapy and speech therapy evaluation. A conductive hearing loss was found so he had his first surgery at age 2 to have the fluid from his ear drained. He started to walk and talk better.
At 3 years of age he wasn’t catching up with the rest of the kids and Zachary continued with all his therapies. At age 3 ½ the doctor decided it was time for Zach to go see a geneticist. This scared his mom Janine because her Uncle had a rare disease and died at age 6! She worried Zach would have it too!
Janine and Robert, Zach’s parents, took Zach to the geneticist who said he was 97% sure that Zach had MPS II but they would have to have a blood test done to be sure.
They were advised not to have unprotected sex until the results came back, as if this was the diagnosis there is a 50% chance any male child born to them would have it as well.
It took over a month to come back and the results were not good.
Zach was not “developmentally delayed.” Zach had a rare genetic disorder called Hunter Syndrome or MPS II, or Mucopolysaccharidosis Type II. At the time Zachary was diagnosed there was no cure, no treatment; Janine and Robert were advised, “take him home, love him, and pray.”
In good news, the FDA was in the process of approving a possible treatment, so there was hope. At 6 years and 1 month of age the news we were desperate to hear finally arrived… Elaprase got FDA approval!!! Hope was on the horizon.
In September of 2006, Zach got his first enzyme replacement infusion! He would continue to get these infusions every week for the REST of his LIFE! The cost was HUGE! Each week the medicine alone cost $8,000.00! Then there was the cost of the hospital to give him the medicine, the nurses, and all the supplies! Thank goodness Janine and Robert had health insurance.
When he was 7-8 years old Zach and his whole family took on the Media to advocate for awareness of this rare disease. They were featured on: Mystery Diagnosis which was on Discovery Health, Channel 7 News Hope for Hunter’s Segment, in Newsweek “Genetic Detectives”, and even on commercials for The Children’s Trust Fund! Zach was so COOL!
On July 3, 2008, one of Zach’s doctors, his orthopedist, noticed that his spine was curving in. This was not good news.
The doctor said Zach would have to have spinal fusion surgery or he could become paralyzed! They said he would have to have a metal rod placed in his spine.
Zach’s geneticist was NOT happy about this. He was worried that if Zach was not able to move after the surgery he might never walk again. So the geneticist called the orthopedist and they spoke. Then the geneticist asked Janine and Robert to find out the exact angle that would compromise his spine.
Zach’s parents and the orthopedist talked, researched and consulted with the geneticist and the geneticist withdrew his objection but did not endorse leaving the decision to Janine and Robert. They decided it was in Zach’s best interest to have the surgery. That way he might be able to walk better. He was losing this skill, and he would not become paralyzed and it could prevent other problems.
This was scary! It meant he would be in surgery for 6-8 hours! So Zach had surgery in January of 2009. It ended up taking 12 hours! After the surgery he went into ICU. He wasn’t even allowed to move until they put a cast on him. Even with the cast he had to be handled very delicately.
It was after surgery that Zach started these shaking episodes that were so scary. Doctors thought they were seizures but they lasted too long. The shaking lasted for 45 minute to an hour at a time. The test for seizures showed he didn’t have them. The medicines for seizures didn’t work. They happened a LOT when he was eating or had an upset belly.
In time, with the help of one of my mom’s doctor friends, Dr. Sandy we came to know them as storms. Once the storms started they were pretty much uncontrollable.
One particular Thursday during Enzyme Replacement Therapy, Zach kept “shaking” or storming as we called it. The doctor tried to fix it by giving him medicines but it didn’t work. He kept shaking on and off for over a day and a half. So Janine called Dr. Sandy, and told her Zach was storming so much his legs were raw. It was time to go to the emergency room.
When they arrived, Zach was still shaking. They took Zach in quickly and gave him medicines to try and stop the shaking; it took more than 30 minutes but eventually it stopped. Then they drew blood and found that his sodium level was low and he needed to get fluids. The doctors wanted to watch him overnight so they admitted him to the hospital. He was brought to the main floor and Dr. Sandy came to see him. She talked to the nurses about him to work up a plan for him to go home.
Dr. Sandy was educating the nurses on the floor about MPS and how his airways could be tight. All seemed ok. Dr. Sandy wrote a prescription, talked about plans for Zach and walked away and everyone started to settle in. About 5 minutes later Zach coughed when he did mucus blocked his airway and couldn’t breathe! The doctors and nurses all came running! They had to do an emergency intubation to open up his airway. They were fortunately able to do this without much issue. Zach was moved to the intensive care unit. Everyone was scared, including the nurses!
Two days later, they took the tube out but after 12 hours of hard work breathing they wanted to give Zach some support so he could sleep easily over night. So they put a CPAP machine on him and continued with therapies to get all that stuff in his airways out.
During the middle of the night (3 am) the respiratory therapist came to give Zach CPT, which is like a massage on your chest and a cough assist. Again Zach coughed and blocked his airway! This time, the doctors couldn’t find Zach’s airway! Eventually, one of the doctors was able to get his airway open again. (Thank goodness!)
The doctors in ICU called Zach’s ENT Dr. Singer to come take a look at Zach’s airway.
Dr. Singer came first thing in the morning and said that his tongue and the area around the back of his mouth were blocking his airway and that he was going to try to do surgery to get rid of the area that was too big for him to breathe.
Zach had Surgery with Dr. Singer; it was as quick and as successful as it could be. Dr. Singer said that he would have to rest for a few days with the tube in his throat so that the swelling would go down and he could hopefully breathe on his own. So Zach stayed in the ICU and we waited to see what would happen.
The day came to take the tube out again and as soon as they did his airway again collapsed! Again the doctors came running. Again they couldn’t find his airway. Again his parents cried and worried. Again a doctor saved the day. This time, though, there would be no more coming off of the tube. Zach needed a tracheotomy to keep his airway open.
Well once Zach got the trach and he woke up, his family tried to get him to do his favorite activity… eat! He shook his head no. And that was pretty much the end of his eating by mouth. He had to get a feeding tube.
After a month in the hospital and a whole lot of drama Zach came home! Then came the nurses! A trach requires specialized care and though the Townsley Family was trained it was in Zach’s best interest that he have more support than just the family.
The day before Zach’s BIG 10th Birthday Party Bash with over 50 people invited, bad news hit again! Zach couldn’t breathe well. His family called 911. He went to the ER. The Party was canceled.
The area beyond the trach was collapsing. They had to get him a custom trach so he had to stay in the hospital for two weeks waiting for the custom device. While in the hospital, he was kept on a ventilator to act as pressure support to keep his airway open. Finally, the trach arrived and he was sent home, sweet home.
December 22, 2010 at around 2 o’clock in the morning Zach started beeping–ok, well maybe it was his machines since Zach couldn’t talk with the trach, but we always said “Zach’s beeping” so Zach was beeping–and his baby brother went into his room and looked at his pulse ox. It was somewhere in the 70s and at all of 5 years old his baby brother knew this wasn’t good. So little brother went back to his parents’ room and told his mom it was “7” and she said that, “It is not 7 it is 3 in the morning, go back to bed!” Little brother said, “No not that, Zach is 7.” She was confused but went to Zach’s room.
Zach, by that time, had stopped breathing. He was cool to the touch and all that was left was his heart beat. Janine and Robert jumped into action and began bagging him again. 911 was called.
Zach was rushed to the hospital to the emergency room. There he was again, admitted to the ICU. At the ICU they determined that Zach’s airway was continuing to collapse and that they could do one of two things, extend his trach (again) or put him on pressure support. Since they had already extended his trach once and they knew that by continuing to do that it would only continue to get worse, they put him on pressure support.
The good news was that Zach came home in 2 days! The bad news, he was now on hospice care at home. The very night he came home, Christmas Eve 2010, Hospice changed his bed to hospital bed. They had child life specialists coming to the house to play with the two brothers. They paid for all of Zach’s medicine, diapers, and food.
More nurses came to check on him and this continued for a year and 3 months at which time hospice decided Zach was too healthy to be on hospice.
So we transitioned back to Home Health Care. After being discharged from Hospice, Zach had to drop out of school! Yes, up until this point he went to school! The school system would pay for him to have nursing at school. But no one would be able to care for him after school and before his family could arrive home from school or work so Zach dropped out. He stayed home with the nurses.
Zach’s life was pretty ordinary. He stayed home from school but he had therapies, went to baseball games, and out and about in the community for doctors and fun.
On November 2, 2013 after going to the doctor to get a flu shot and his brother’s final baseball game of the fall season, Zach began to have problems. The nurse called his big brother Josh. Josh called Janine and Robert and reported that Zach wasn’t breathing and was bleeding from the trach.
Janine suctioned Zach’s airway out and got a LOT of blood. 911 was called. Zach was taken to the emergency room. Everyone was called. No one knew what was wrong.
The doctors at the ER called Dr. Singer. Dr. Singer came as fast as he could. Dr. Singer looked down Zach’s airway and said there was some trauma to the airway and that they should suction as little as possible and use humidified air to moisten the airway.
November 3, 2013 Zach stayed home following doctor’s orders. It was an uneventful day.
November 4, 2013 started as a regular day. Zach stayed home with his nurse and his family went off to school and work. At the end of the day, Josh went to baseball practice. Then when Zach was getting ready for bed the nurse called for Janine again. Zach was doing it again. Janine went to try and fix the problem again. She called the other nurse, got medical advice. She tried the treatment plan, but when Josh and Robert came home from baseball it was decided to call 911 again.
Before 911 arrived, Zach died. At 13 years of age, he was brought to the University of Miami to donate his brain to the Brain bank for medical research. He was then cremated and brought home where his remains remain on a mantle in his family’s home. Not a day goes by that they don’t look at that mantel and miss their son, their brother, their hero. But all good things come to an end. Including his life.
– As written by Brandon (Zach’s brother) and Janine (mom).