Hunter Z
Colorado
Birth Date: 8/25/2011
Diagnosis: PIGA-CDG Phosphatidylinositol glycan class A (PIGA) - Congenital Disorders of
Glycosylation (CDG)
Theme - Red/Yellow, Fire Trucks, Super Heros
Due Date: November 1, 2023
Hunter's Journey
Hunter was born August 25, 2011. Everything was seemingly "normal". He was slower to hit milestones than his older sister was, but the doctors were not concerned. 2 days after his first Christmas is when our world flipped upside down. Hunter began having seizures.
At first I did not know what was happening. He would go completely limp and stop breathing. His lips and face turned blue. We were transported to the hospital where we spent 10 hours in the emergency room trying to get his seizures to stop. He was not stable
enough to move to the PICU. After 10 hours of running test, including a lumbar puncture, we finally made it to the PICU but only because the ER team ran down the hallways with him to get him to a room. 3 more long days in the hospital running tests and getting
him on medication and we were discharged not knowing what was causing the seizures. They did not find anything with the tests they ran. They were hopeful that it was just a fluke and it wouldn't continue. 2 days later, Jan 1, 2012, we were back in the ER.
journey began. We were told that he would likely not make it to 6 months old. They were wrong. We had a fighter and fought right next to him. For the first 12 months of Hunter's life, we spent 192 days in the hospital. Countless EEGs, blood test, MRI, CT scans,
scopes and xrays. Nothing led to a diagnosis other than Epilepsy with unknown genetic disorder. At 5 months old he was put on oxygen during sleep. At 6 months old he had a G-Tube placed. The doctors and us were not willing to give up. They enrolled Hunter
into a study that would run his DNI panel at no cost. Insurance would not cover this and we did not have the means to pay for it ourselves. The doctors again told us he would not live to 1 year and then 2 years. When he turned 3 years old they stopped guessing,
because really that is all they were doing. They had zero medical knowledge about what condition he had. All we could do was treat the issues as they arouse. We were seeing all the top specialists at Children's Hospital in Colorado. We traveled to Johns Hopkins
Hospital to see their specialists for second opinions when Hunter was 1 year old. They all agreed with his treatments, but what we can as things come up. In October 2014, I received a call from the Genetic doctor. They found the diagnosis. The reason it was
not found in 2011 when he first got sick was because it was not discovered yet. It was discovered in 2012, but not on any blood test panel. When Hunter received his diagnosis of PIGA, he was the 12th person in the world to be diagnosed and there were only 6
survivors. He was the 2nd oldest one at the time. We were told that it is a terminal disease, but there is not life expectancy because there is no good data to go off of. Nothing changed other than having a name for his disease. As of today, we know of around
98 known cases worldwide with approximately 45 survivors. There is still very little information on this disease. The medical community are learning as we go. Hunter is now 11 years old. He has had many ups and downs over the years. He is a very happy boy
when he is well. He does not speak, walk, stand or sit unassisted, He does not eat by mouth. He is wheelchair dependent and needs someone to push it for him. He is complete/total care. I had to quite my corporate job in order to stay home and care for him.
I stopped counting how many times we were in the hospital. From intractable seizures to recurring pneumonia to removing his appendix and placing a VNS stimulator. 2019 and the beginning of 2020 were touch and go. He was 8 years old and weighed 39 pounds and
in constant pain when we would try to feed him via G-Tube. We finally started him on TPN through a central line, thinking it would be a 6 week max temporary fix until we could figure out the issues with his GI tract. That 6 week time frame turned into 2 years.
In those 2 years, he gained 40 pounds. We were finally able to remove the central line and go back to G and GJ tube feeds. He currently takes 11 different medications 4 times a day. He is on a CPAP with oxygen at night. And is monitored with a pulse-ox machine.
But Hunter has been incredibly healthy these past 2 years. We have not spent a lot of time in the hospital. We have been able to focus on all his therapies, which he loves.
Quilt delivered by the Local Fire Department
Hunter just received his quilt. He LOVES it!!!! We all do.
I can not thank you enough. This is so special. We will be taking it to the hospital next week for his surgery and then admission afterwards. It is sooooo awesome.
