Wednesday, July 16, 2014

Our Last Day at PCMC

It was finally Tuesday, hopefully our last day at the hospital. The night before Aleah slept in a crib for the first time by herself, with many interruptions and me soothing her back to sleep or nursing after her sugar was checked. Casey slept on a thin mattress on the floor next to me while I was on the couch. Our morning started out by an Asian accent telling Casey he couldn't sleep on the floor because of fire hazards. Another doctor not helping us out. She was the attending that day, I think, but I'm not really sure of what she said or what she was doing. We never saw her again.

I stayed asleep with Aleah while Casey showered and got us breakfast. Dr. Clements came in and quietly spoke to us while Aleah slept some more. (Poor girl was exhausted.) He told us that the diazoxide seemed to be working well and that after a few more blood tests, assuming they came back normal, we should be able to get home. We questioned him and he answered us patiently, taking an hour or so with us. He also said the diabetic specialist nurse would come in to explain the glucagon shot and blood glucose monitor.

I was dreading the blood tests, the idea of Aleah being pricked again. Luckily it turned out to be just a heel prick! While we waited for the results a nurse came in to explain the glucagon shot, an emergency shot that we could give to Aleah in case she had another seizure or her blood sugar dropped dangerously low. The results came back and her triglycerides came back way high, at 421 where a normal high would be 110. This instantly worried us because this could be a sign of a liver issue, which is associated with metabolic disorders (often go along with CHI). The test was ordered again and we anxiously waited, afraid we might not go home after all. Other family was planning on visiting but we felt like we were in limbo.

We were trained on the glucose monitor and then left alone to wonder. Our awesome nurse was on lunch so I couldn't bug her to check to see if the numbers were back. She came walking back and said, "Are you ready to go home?" I wasn't sure if I heard her right so I asked about the triglyceride levels. She said, "Let's check." She logged in and they were normal! She already had the discharge papers waiting for her when she got back. Too bad the doctors didn't stop by to let us know as I paced the halls wondering. My parents and Emilie came back to see us off, except at this point Aleah fell asleep so we decided she needed to rest while we got packed up. Casey took stuff down to the truck and I tried to let it sink in that we were finally going home.

The mood was lighter, relieved, happier. I finally felt like we could relax just a little, even though I knew our hyperinsulinism journey was far from over. Aleah woke up after a brief nap and we were finally ready to go after getting her dressed. We stopped at the pharmacy on the first floor to get her medication and walked out to the parking garage where we said goodbye to my parents and Emilie.

We haven't had any major blood sugar scares, but Aleah is definitely playing catch up for basically missing the first 6 months of her life. She's 8.5 months as I write this; it's been 2.5 months since we've come home. She's a different baby. Sometimes the first year of her life just seems like a distant nightmare, except for the fact that any time she starts to cry or I hear a baby cry I flinch and stress, thinking something is horribly wrong. I'll continue to try to update more on Aleah, but for now, know we're in a very good place.

Primary Children's-Day 2

7 hours of interrupted, yet amazing sleep. It's incredible how much one's perspective can change with sleep. We woke up somewhat refreshed to the new attending team telling us once again how horrible we were for co-sleeping. It was getting old. Either way, Aleah was doing better and we were feeling somewhat optimistic now that we had more of a diagnosis.

Dr. Clements, another pediatric endocrinologist, came in to talk to us about hyperinsulinism and the possible causes. There are dozens, some of which are known. Because of her lab work he didn't think it was related to the pituitary gland, the pancreas, or liver nor a metabolic disorder. He discussed diazoxide, the medicine they wanted to try with Aleah, and the possible side effects as well as other concerns. Basically, Aleah has gotten hairy. Aesthetic side effects are much better than other possibilities. We just call her our little chipmunk or some other equally chubby and hairy and adorable creature. Adults can retain water with diazoxide but it's not common with children unless they have heart problems.

Both he and Dr. Murray agreed that this was a more mild case, one that Aleah will most likely adapt to, whether it be as a toddler or a teenager. Once again he wanted to wean Aleah off of the drip—for good—and start her on the diazoxide. He was consulting with the Genetics Department regarding Aleah's case, as they thought it was most likely a gene mutation, and said they'd be in later that afternoon. He also wanted us to receive some education regarding a glucagon shot and monitoring her blood sugar, as well as follow ups with him, assuming the diazoxide would work as predicted. He was very friendly and sociable, willing to answer lots of questions and discuss all of our concerns.

Devan, Casey's dad, was on his way to a conference in St. George so he and Wendi stopped by for a few hours and also got us lunch. (Side story: to give you an idea of how tired I was the day before, Wendi had mentioned Devan going to a "water conference," which for some reason I found HILARIOUS. Devan works in waste-water treatment but the idea of a water conference, in St. George—a desert, was very amusing when combined with no sleep.)

Anyways, they went to get us lunch and genetics stopped by. A nurse practitioner and fellow from Portugal consisted of this team. Aleah was asleep on the bed so we moved to the other side of the room to tell them about family history, health conditions, her background, as well as ancestry. Casey's parents came back in towards the end and were there to watch them do a physical exam on Aleah. The team was looking for observable characteristics (phenotype) that would suggest a specific set of genes (genotype).

For instance, Beckwith-Wiedermann syndrome presents with abnormally large body parts, usually asymmetric, large tongue, umbilical hernia, and so on. These are phenotypes. Abnormal regulation of the genes on a particular region of chromosome 11 lead to mutations of the CDKN1CH19IGF2, and KCNQ1OT1 genes. These are the genotypes. After examining Aleah the genetics team did not think she had this syndrome, nor any other obvious syndrome that would explain her hyperinsulinism through apparent phenotypes.

Right now there are 7 genes identified that cause or associate with hyperinsulinism. We're currently trying to work with genetics to have them get preauthorization from our insurance to do this genetic testing. Even with testing we'd only have about a 50% chance of identifying the cause of her hyperinsulinism. However, genetics canceled our follow-up appointment because they said she was doing so well. After networking with other parents of CHI kids I realize now it's important to get the testing done if possible, in order to get an idea of her future and possible future children.

Genetics finished and Casey's parents left after bringing us lunch. Aleah was off the drip at this point so we could walk around. We waited for my brother, Matt, to come visit and chatted with staff while enjoying our time out of the cramped room. Matt brought us some treats (very appreciated) and talked for a while, then my sister Emilie arrived. We were so grateful for any interaction at this point, even though our 7 hours had quickly worn off. Matt left and Aleah fell stayed with Casey while Emilie and I went downstairs to get something to eat. I knew I was only two floors away but it was difficult to relax; I didn't know if I should eat downstairs or hurry back up. I brought Casey some dinner and Emilie left.

Aleah had started the diazoxide that afternoon. We anxiously monitored Aleah's blood sugar, waiting for signs that the diazoxide wouldn't work. At first they checked her sugar every hour, then every 2, and finally, that night, every three. It was working.