Another Road Trip…

We spent this past week at the Mayo Clinic again. We had a full week of consultations with doctors, follow-up appointments, and tests. It was very overwhelming and draining in many ways but we did got some things sorted out.

We started the week off with Faith’s MRI. It went well and the results are pretty consistent with what we expected. The myelination of Faith’s brain is not that of an almost 16 month old, her corpus callosum is thin, and her pituitary appears small.

Next up was our consult with GI. Almost immediately, the GI expressed her concerns about Faith’s reflux as she observed Faith during the appointment. She scheduled Faith for a 24 hour PH impedance monitoring test. This not only measures acid, but anything else that could be coming back up the esophagus. Faith was admitted to the hospital for a day to conduct the test. The test results clearly indicated that Faith has very significant non-acid reflux. The acid is under control with her medicine. However, she is still having Pediasure or even possibly saliva coming up that continues to pose a risk for aspiration.  The doctors feel that the risk is too great to continue G-tube feedings. They are concerned about long-term, irreversible damage to her lungs from aspiration and recurrent pneumonia. In addition, the reflux makes Faith miserable and we need to find a way to make her more comfortable. The doctors are hopeful that if we can get the reflux resolved, her sleep will improve as well. I am not sold on that one yet, but I sure hope they are right!! So, what is the solution? Faith will need to get a G-J tube. The G-J tube will be placed through the abdominal wall into Faith’s stomach(just like her G-tube now) but will extend into her jejunum (part of the small intestine). The G-J tube will deliver liquid food directly to Faith’s small intestine. This will allow food to completely avoid the stomach which will make it less likely for her to reflux food back up. We are hoping that this will work. If not, Faith will need a fundoplication. This is a surgical procedure which involves wrapping part of the stomach around the esophagus.

We had the opportunity to meet with a doctor from Physical Medicine and Rehabilitation(PMR). She is most concerned about Faith’s hands. Faith is still not opening her hands completely and is continuing to be very tight-fisted. We have seen improvement with her hands in the last few months but it is very important that we get a bit more aggressive with this issue. Faith’s hands are her eyes so we need to do everything we can to make progress. Faith is going to need more therapy to address this issue as well as her other developmental delays. She is also going to be spending more time in hand splints to stretch out her fingers. This is a challenging situation because according to the PMR doctor,  Faith’s brain is not sending the message for her to open her hands so it may be more complex if therapy doesn’t seem to give us the improvement the doctor is hoping for.

During our visit, we got some lab work back indicating that Faith has low IGF levels. This is an indication of growth hormone deficiency. Prior to leaving for the Mayo Clinic, we also found out that Faith did not pass her ACTH stimulation test. This indicates that Faith has some low level of cortisol deficiency. Both of these findings are consistent with function issues of the pituitary gland and are common with children with the SOX2 mutation. We will be following up with Faith’s endocrinologist to determine next steps.

We wrapped up the week at the Mayo Clinic with an ENT (ear, nose, and throat) consultation. The ENT has some concerns that need to be ruled out on a CT scan. We are hoping that her suspected diagnosis is not true for Faith. It would require very involved treatment. So, for now we are hoping and praying that the CT scan will give us positive feedback. We were not able to get the CT scan done before we left so that will need to be done here soon.

We have many next steps to get started on! We are so thankful for the phenomenal doctors at the Mayo Clinic for their knowledge, expertise, and dedication to helping us find answers. We have a long road ahead it seems but we will continue to seek out the best for our Super Baby Faith!! Thank you all for your continued support and prayers!

Keeping the Faith,