Hi Friends and Family!
I am sorry I have left you in the dark the past few days, we have been on such a roller coaster it's been hard to update, keep up with the doctors, read literature on Evie's condition, have snuggle time, pray, AND get rest!
After a day of decling a little bit in her recovery on Thursday, Evie did much better Friday, and even better today. They FINALLY took all of her cords off today, she is no longer hooked up to anything! Such a blessing for me to get to hold her without worrying about setting off a monitor. She still has an IV in her arm just in case she needs emergency medicaiton if she would happen to seizure again, and her nasogastric tube that she is getting half of her formula in, but we are going to try a full bottle later today and see how she does.
Evie has received a diagnosis of Infantile Hypophosphatasia. It is a rare bone disease, in which your body does not make enough alkaline phosphatase, the key enzyme in bone mineralization, and depletes your body of it's vitamin B6 stores, causing seizures. The good news is, we have gotten Evie on a regimen of B6, and she hasn't been seizing. She is also off of oxygen and her respiratory status is much better. The bad news is, there is no approved treatment for Hypophosphatasia except a clinical trial, although the clinical trial is VERY promising.
So what's next? Well, Evie needs to take a bottle and stay stable before we can go home, which will hopefully be tomorrow. Next, we need to get approved for the enzyme replacement therapy clinical trial. John and I are finishing up reading the literature and getting our questions answered. The company that makes the drug is coming out next week to hopefully expedite the process of getting the trial approved by the Institutional Review Board (IRB). This drug is the only enzyme replacement therapy available for Hypophosphatasia, so we are ready to get on board. It has shown remarkable improvement in the early stages of the trial. What's the rush? 18 out of 18 infants who had seizures in addition to severe hypophosphatasia passed away in the first 18 months of life. Ugh.
Prayer Requests: Stability in Evie's little body. That we can take her home as soon as possible. Prayers that the drug company successfully gets a clinical team to Omaha ASAP to get the trial started, and that the IRB feels a sense of urgency in getting the treatment passed. That John and I can have peace of mind and heart about the clinical trial, and that if it is not God's will for us to participate that he would throw a giant red flag out there for us. Preparation for me (John, Nana (Micki), Papa Steve, and everyone else), as the trial will require a 2 week hospital stay for Evie to get started, injections 3 times a week, and numerous blood draws, urine specimens, xrays, etc in the 6 months following the start of the trial. Prayers that Lyla will continue to adjust to our new normal and the ins and outs of taking Evie to the hospital... she is doing really good so far but we are both having a pretty hard time being apart during this hospital stay.
Thanks for loving us and praying for us! I can't believe how many emails, phone calls, texts, cards, and gifts we have gotten from friends, family and even strangers just letting us know they are thinking about and praying for Evie. God's people have truly blessed us by wrapping their arms around our family.
Lindsey, John, Lyla, Evie