Jackson is 3 years old now. His first episode was in Feb of 2009 but we never knew what it was. In that episode I took him to the hospital because his urine was brown so I knew it was kidneys and had to act fast and went straight to the emergency room. Nothing else was wrong, this disease can be pretty sneaky and fast. They did blood work at the hospital and found that Jackson had a really high CK level so they called childrens hospital and they told them to start flushing him out immediately. They did and then we were transferred to Childrens Hospital in DC.
Once there his CK level hit 38,000 and then started going down. They did not do a muscle biopsy because there were no other symptoms of rhabdomyolysis except the muscles. They monitored him for a year and it never happened again. The second episode happened in Feb of this year and was completely different. This time he was fine in the morning, playing and not sick at all, he coughed 2 times the night before and that was it. He woke up at 7am and ate and then played until 9.30am when he told my dad (he babysits him) that he was going to take a nap and laid on the couch. My dad thought it was strange so Jackson was laying on the couch and my dad was watching him. He went to scoot him up on the couch and he screamed "ouch" and then my dad called me and said I better come there. I got there in about 15 minutes and called the paedeatrician and they said bring him in at 530pm, I said no so they said ok 130pm.
I then watched him for about 5 minutes and noticed he was pulling for air so I took him to the emergency room which thankfully is right around the corner from my house. He was lethargic and non responsive. They said he was in shock. His heart stopped at about 11.20am from the potassium level skyrocketing. They got it started again and then it stopped again a short while later. They intubated him and started running fluids through him because his CK was really high. I don”t know the numbers for at Fairfax Hospital CK levels because so much was going on at that time. They admitted him to the PICU at Fairfax Hospital and put central lines and he had a slight fever (very small) and they put warming blanket type things on him. He was in Fairfax ICU in a drug induced coma for 2 days they he was helicoptered to Childrens in DC and admitted to their PICU. We were there for 43 days. His CK level reached 985,000 and his kidneys were in serious danger. They had never ever seen levels so high. They flushed and flushed the whole time and kept him in a sleep state with drugs. Once his levels started to come down they tried to extubate him and he failed, they tried a second time and he also failed. After the second time I told the doctors they needed to wake him up so he had the best chance of breathing on his own when the tube came out next time. They only try to remove the tube 3 times and then they do a tracheostomy to breathe through a tube in the throat, so I wanted Jackson to have the best chance this time. When he was awake we got him to do things with his upper body like draw, colour, pass a heavy toy back and forth between his 2 hands etc... to build up what muscle he could while being intubated.
THE STAFF AT THE HOSPITAL HAVE NEVER SEEN A CHILD DO THIS AND NOT FREAK OUT BECAUSE OF THE TUBE! But Jackson did it! They did test trials before where he breathed on his own while still intubated but they only did it for 4 hour intervals and he would pass them but then fail after about 14 hours of being extubated so the last lime they were going to test him I said, "Why can't we test him for 24 hours and see how he does?" So we did that and he passed, so the next day they extubated him and he made it that time. After we left the Childrens' Hospital we went to a rehab hospital for a week and then went home where he continued to walk better every day. Now his feet are straight and he is running around again.
We have a letter from the genetics Dr that we keep with us at all times now that tells the ER what to do if Jackson comes in with even a minor cold. We hand them the letter and they immediately start IV fluids and Glucose even before they do the blood tests. The letter says not to wait for the tests because it may already have caused irreversible damage if they don't start right away. This is a good letter to have.
I'm happy to post Jackson's story on the Lpin1 awareness page to let people know:
1. To look for the smallest things
2. If diagnosed they should have a letter telling the ER exactly what to do immediately even if its just a cold (a day in the hospital is nothing compared to what happens if not treated) and
3. Not to try to extubate without first working the upper body as much as possible to try to build up some of the muscles around the lungs. It saved Jackson from a tracheostomy which would have been a dangerous surgery since anaesthesia can trigger the episode again.