Wednesday, July 16, 2014

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.

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