Gage’s Story with LPIN1
January 22nd 2013
It was a year ago today & seemed like a normal Sunday. Little did we know that within 24 hours our little 5 year old boy would be fighting for his life.
Gage had a busy weekend. Saturday he went to a friend’s birthday party where he bowled. Then he went to a play date with his cousin that afternoon. He was a little tired that night & went to bed early. The next morning we had plans to go help clean out Gage’s great grandmother’s house. On the way over there Gage said his tummy hurt. Within an hour of getting there he started vomiting. We got him home & he rested for most of the day. He had no fever & didn’t get sick again until late that night. He did start complaining of his butt hurting around 6:00 p.m. He had an episode back when he was 2 ½ that had resulted in a 5 day stay at our local hospital for dehydration. He did have a fever, diarrhea & we could barely touch him without him crying during that episode. His pediatrician had diagnosed him with Hepatitis A. Although his doctor thought the diagnosis was correct the Health Dept. did not agree & said they could not say for sure that was what Gage had had. Although Gage couldn’t really explain to us what was wrong with him at 2 ½ it sure seemed like the same thing was going on with him now at 5 yrs old. I remember standing in our kitchen & looking at my husband saying this seems just like what went on with him when he was 2. I started giving Gage something for the pain he said he was having & he slept for a good while. By 10 p.m. thou he had gottin to where you could hardly touch him without him crying out saying it hurt. We got on the phone with an on call doctor & told them his symptoms. Vomited once at 11 am & complaining that his body hurts. I mentioned the hospital stay at 2 ½ & the doctor said he was going to leave it up to me & my gut feeling on whether we try & wait it out to go to our doctor in the am or go to E.R. Within the next 30 mins Gage vomited again & we decided to take him to the E.R. We actually had to lay Gage in a blanket & with me on one side & my husband on the other side we pick him up & carry him to the car as he cried out that it hurt but us actually picking him up & carrying him hurt him even more. While on the car ride to the hospital I held him & tried to cushion him from the some bumps we went over. Once we got to the hospital they took him back & triaged him. Once he was in a room the doctor that saw him ordered blood tests, IV fluids & CT scan of Gage’s abdomen. This test required him to drink chalky like fluids before they could do it. Gage wasn’t able to keep the fluid down. They also wanted him to urinate & when he wasn’t able to do so they decided to cath him. Once the catheter was in nothing was coming out. The nurse then pushed on his abdomen and a dark syrupy thick liquid came out. I could tell from the look on the nurse’s face something was very wrong. They finally got IV started, got him pain meds & drew blood for other tests. He was admitted & he spent the next night at the hospital. That night was the worst a night of my life. He was in so much pain & there was nothing I could do to help him. I couldn’t even hold him. I laid curled up at the end of his bed that night just watching him & making sure his pain meds were working & that he was able to rest. Gage’s tests came back & the one they were looking at which was called a CPK test was so high that his pediatrician started calling Children’s hospitals in Atlanta to see if they could take him. A normal CPK number is around 165 & Gage’s was 250,000 & that was with them diluting it just so it could be read. CPK test shows the doctors how much muscle break down there is in the body. When your body gets dehydrated it searches for a way to hydrate. In Gage’s case his body attacked his muscle to get hydrated. Once your muscle start to break down your body tries to send that break down through your body & through your kidneys. This will start to shut your kidneys down & is why Gage’s doctor was trying to get him to a hospital that could if needed to…start dialysis. Gage was transported by ambulance to Elgleston Children’s Hospital in Atlanta which is about an hour & half away from our local hospital which we had been there for 2 nights already. Once he was at Elgeston doctors did their own tests. They couldn’t believe his numbers were so high from his CPK test from the Medical Center. Gage had doctors coming in left & right to evaluate him. He had a primary & kidney doctor to start with & by the time he was discharged 2 wks later he had GI & genetics doctors too. The primary doctors & I say doctors because it is a teaching hospital so there could be 5 to 6 doctors on each team. The primary doctors decided to start pumping large amounts of fluids in him hoping to shock his kidneys back to working. I really felt like he would end up on dialysis that day but he showed a little improvement over night & the decision was to hold off on dialysis for the time being. Gage went from 47 pds. to 68 pds. with all of the fluids he was getting through IV. He was also getting nutrients through his IV & didn’t eat actual food for 12 days. When his kidneys started to improve the doctors really wanted to take his catheter out. We were told that he needed to urinate with in 24 hrs & once it was out the countdown began. I really did not want him to have to go through getting it put back in again & as we came up on the 23rd hour I was willing to try anything to make my baby pee. He & I ended up in a warm tub as the last hour was coming to an end. Gene, Gage’s dad, picked him up as he cried out from still being in so much pain from his muscles being attacked & laid him in my arms in the tub. Just as most kids do when they hit warm water I see him start to pee. I never thought I would be so happy to see him pee in the tub much less with me in it with him. J
One hurdle had been jumped but he still needed to do #2 as well because he had also started to have abdomen pains. These stomach pains are what ended up being one of the things no one could figure out. He was on morphine from the time they started his IV at the Medical Center until The night before he was discharged from Egleston. Gage wasn’t getting as much by the end of his stay but he still would cry out in his sleep with stomach pain right up till the night before he left the hospital. So on top of his kidneys he now had GI problems & GI doctors were called in on his case. Gage had ultra sounds of his tummy & chest. The only thing they saw was a little fluid around his heart from all of the fluid they had pumped into him but they started meds to pull fluid off of him so his heart didn’t become another problem. There was nothing they could see from the ultrasound that was causing his stomach issues. They figure he just needed to do #2. So then the suppository & enemas started & we had no luck with either.
While we battled the issue of Gage going #2, we were also told that the doctors wanted to put a port in Gage. Gage was having blood drawn every morning & night. His poor arms needed a break & this was the answer. We told them yes that we wanted the procedure. It was scheduled for the next day & was the worst day for his Dad & I because we could not be in with him while it was being done. In the end the port was so worth all of the anxiety we had that day. It made it so much easier on him to get blood drawn & meds.
Ok well on the #2 issue it was a week before he finally went #2 & believe me we all did poo poo dances that day….from us to his nurses, his prayer warriors & even his doctors. We felt like his stomach issues were starting to work themselves out. His blood work showed his CPK was going down. Although it was just in small increments it was still going down. Gage’s kidney doctors were waiting for it to get as close to normal before they would say he was out of the woods & not needing dialysis. So the next thing thrown at us was that with all of the blood being drawn from Gage we might have to decide if we let him have a blood transfusion. I had tons of questions about this and was torn on what to do. Praise God we never had to make that decision.
The next day Gage’s blood count started going up & docs said we could hold off for the time being. Gage never ended up having that transfusion & his CPK numbers got to where kidney doctors said he could be discharged. Gage had been having physical therapy while a lot of this was going on. He started PT about 10 days into his hospital stay & continued to build his strength up at home for another week after his discharge. He was released with no diagnosis but with an Emergency Letter stating that if he was to come in the ER he needed to go straight back to have IV fluids. His case was in the genetics doctor’s hands now & really our last hope for finding a diagnosis. We were told it could take up to 6mths for a diagnosis to come back. Gage was discharged at the beginning of Feb. 2012 & we got a call in March to come in the 1st of April for his results. That is when we were told of his LPIN1 disorder. Gage has been in the hospital 3 times since his diagnosis. The episodes have been from little bugs most kids can get over within a couple of days but in Gage’s case it requires him to be admitted to hospital for IV drip normally just an overnight stay or at least until he can hold down food.
Gage is due to go back to his Emory genetic doctors in September for his yearly check up. Since his diagnosis they have told us that this is a rare disorder and Gage is one of 5 diagnosed in the US. They asked if he could be a case study for them. Of course his Dad & I agreed. We want to be able to share Gage’s story in case there are other children out there with these symptoms. We were the lucky ones. We got Gage to the hospital in time for him to be treated. Some parents were not as lucky as we were. I pray that Gage’s story can help that from happening again to anyone’s child.
If you notice I started Gage’s story back in Jan of 2013. It was so hard to type out because you relive it plus I really wasn’t sure how to put it all in words what all he went through but I then thought of the others that I was actually writing it for. It was because another mom of children with LPIN1 started a Facebook page about LPIN1. During one of Gage’s episodes I went out to the internet looking around about LPIN1 & saw Trudy Olive’s page on FB & requested to be friends. It told her story of her sweet son Thomas that passed away from this disorder & how they had another child that they were worried about having it too. Trudy immediately responded to my request & we started chatting back & forth. She had asked me to share Gage’s story & I agreed to. It wasn’t a matter of wanting to but finding time to do it & then once I found time I realized how hard it was but then I sat & said to myself…If Trudy can share Thomas’s story I should be ashamed not to share Gage’s no matter how awful it was to relive as I typed.
I want to Thank & praise Trudy for being so strong & for trying to make others aware of LPIN1.
I know Thomas is so proud of his Mom!!!