Dustin Roger Potter : “A Journal of his Life’s Short Journey”

by Julie Potter

My 9th Grandchild and 4th Grandson, Dustin Roger Potter, was Born August 1, 2013 by C-section at 5:59 pm. He weighed 6.9 and 18.5 in. long. His Daddy, Ryan, is my son and has a 7 yr. old daughter, Trulee, from a previous marriage and His mommy, Lauren, has a daughter, JoDee, who is 6, from a previous relationship. He was always a little fussy and he liked to keep his head turned facing his left shoulder face up. If you tried to turn him different he throw a fit. I figured with time he would change if we kept making him. Around 2 months he had his first bout of RSV. We lost count on how many times he got RSV by the time he was 6 months old. At that time I finally told the kids I felt like something was wrong and there Family Doctor was missing something. He was having a hard time swallowing and gaining weight. I suggested they take him to a Pediatrician at the Budge Clinic in Logan. 

Eventually we got to take him home and they had an appt. set up with Dr. Nicola Longo, March 31, 2014.  That’s when we were given the news that Dustin had Gaucher’s Disease. We also found that both parents have to carry the Gaucher’s Gene.

At the time he wasn’t sure what Type he had but going by his swallowing ability and his eyes crossing he told us Type 2 or 3 leaning more toward 3 at the time. So they took blood and DNA and sent that all back east to get the results of what Type he had. At that time we didn’t know about a Skin punch biopsy which might have given us a little more time with him. But in the mean time they fast tracked him for Enzyme Replacement Therapy (ERT) infusions.

But before he had his first infusion, he had to attend his Mommy and Daddy’s wedding on April 4, 2014. He looked so handsome with his daddy in their Tuxes.

They wanted him to get the infusions every 2 weeks. But before he was even able to get the first infusion he was transferred back to PCMC. He had RSV and Pneumonia. We were in a semi private room which really bothered us because he had no immune system and it didn’t make sense to put him with other kids that had RSV!! He would never get over it! He was put on IV antibiotics and oxygen. Sometimes his coughing spells were so bad that they would have to use deep suctioning on him. I’ll never forget the terror in the poor little guy’s eyes when these happen. One night he had one so bad it put him into a seizure. From then on he would have little seizures. It was just part of the disease taking over his neurological system.

Once we got his fever to subside he was finally given his first infusion. He handled it great, and he seemed to improve. After another 10 days, he was finally cleared to go home again. Things went pretty smoothly for the next couple of weeks. He was setup for another infusion in outpatient Tuesday April 29, 2014. We got him all settled and they were doing routine vitals and he had a fever. So no ERT and he was admitted for Bronchitis and Influenza and by Thursday they were able to give him his infusion.

On Friday night, I had a strong feeling I needed to discuss some songs for when the time came that we had his funeral. It was so hard and Lauren and I cried and we bonded even more. “Godspeed” by the Dixie Chicks, was one of the songs I suggested.

These were so difficult to listen to along with others. On Saturday evening his daddy came to be with them and I went to my daughter’s in Payson. Before I got to her house Lauren called and told me the results from the DNA had come back. She was crying so I already knew it was Type 2. It was like he knew too, we had the awful news we had been waiting for. The following morning he went into a huge Seizure. They had to bag him and took him to the NICU where he was intubated. By the time I got there he was sedated and had so many tubes, wires and monitors. We thought it was a temporary thing but this Disease at this age is so aggressive. Mind you, this is all within 3 month span. They tried to wean him off the vent and lower the sedation but it would just start up again.

We started calling family to let them know what was going on. Some of them came down that afternoon and spent time with us and him and, We can’t thank everyone enough for All the Love and support they gave us!   His Grandpa drives truck and was in Bozeman, Mt. at Uncle Brad’s for the weekend. When we called him they decided to leave at 5:00 am the next morning and head to SLC.

Monday came and I was able to get hold of a Dr. Oleum Goker-Alpan whom we lovingly call, Dr. GA. She did her Fellowship at the NIH and later move to Virginia and started her Clinic for Lysosmal Storage disorders mainly Gaucher Disease. She asked me to have his Dr. Call her but she didn’t wait for his call she called him herself. Another Doctor and came and told us they wanted to set up a care meeting as soon as his Grandpa got there. WE thought this was great and a good sign. Little did we know……………. We met around 1:00 and things went downhill from there. We were told that basically we were prolonging the inevitable by leaving him on the ventilator and prolonging the pain that was consuming his little body. Of course we didn’t want to do that, but we didn’t want him to suffer anymore either. So the decision had been made us.

Again, the phone calls to family, this time to come say goodbye. They came in around 5:00 pm and removed the intubation tube. They kept his IV in so they could keep him calm and comfortable. It was the longest 5 hours of Our Lives. Lauren had a friend who came down and photographed “Dustin’s Final Journey” and our goodbyes.

No Parent should EVER have to bury their child! 

These diseases need to be caught earlier, identified, diagnosed and have a treatment.  Families of the Intermountain Region need to have a Clinic for these Rare and Undiagnosed diseases here in Utah where we have some of the most Brilliant Doctors available and be able to bring more Brilliant Doctors here to help in this Cause.

I’m so Grateful to be able to carry on Dustin’s Legacy by being Outreach Chair Utah Rare www.utahrare.org and Advisory Board Member and Outreach Director, Rare Angel Director and Gaucher Chair of the Rare & Undiagnosed Network (RUN) www.rareundiagnosed.org

Julie Potter