Hopkins has stepped back up

I spent a lot of time last week pulling my hair out and struggling to find the most simplistic, fastest most efficient way to bring Annabelle to a diagnosis. Im scared to death to invest the time into reinventing the wheel purely because of insurance regligance.. but if it's what I need to do on my own, and put forth all the leg work - I'll do it without blinking. Because really, we don't have time to sit around and blink or think about what's next.. like a gunshot , we need to move as quickly as we can into whichever direction we need to run.

I spoke with our pediatrician several times and we framed a plan together. I called CHKD and asked to speak with someone in their Genetics team and explained our situation. Here's how that went.

• We can absolutely see a geneticist. However, the process of course is legnthy - and even if it takes only a few weeks to be seen, that is still a lost few weeks without answers.. so in order to expedite the process....... :
• I need to have our pediatrician order all the lab work and tests that Johns Hopkins has already ordered and also whichever tests they have determined need to be ordered next. (I didn't know my pediatrician could do this!)
• Therefore, I need to call Johns Hopkins and figure out just which tests these are that Dr. Young needs to order.
• In the meantime, I will work to have all the records, notes and assessments documented from Hopkins Genetics team moved to CHKD so they can begin to look at her case. 
• As soon as the tests are in from the bloodwork, at that time I can get in right away with a Geneticist at CHKD, WITH all my records AND tests and make it the most efficient visit with them to begin to *fingers crossed* formulate a game plan / diagnosis / treatment(!)

I called our pediatrician and she nearly jumped thru the phone with excitement. She also had news to share about the insurance issues.

• Medicaid does not cover anything at Hopkins because they are out of the state of VA. They will not cover anything at all moving forward.
• She called United Healthcare on my behalf as our pediatrician and pleaded her case as to why this child needs this testing performed ASAP. To both our surprise, United Healthcare agreed to pay for the Genetic Testing(!!!!), however, they will not do it at Hopkins because the hospital is out of their network.
• United Healthcare only covered our last visit to Johns Hopkins because we were considered 'traveling' and it was charted as an emergency visit... very different from a scheduled Clinic visit.

I understand now what has been going on. Frustrating yes, but a sigh of relief to know that at least they are now on board to follow thru with the testing.. we just need to figure out how to do it.

Now I just needed to speak with Hopkins and begin to move everything. . . . I called Hopkins and explained my plans. Immediately I was transferred to a Genetic Counselor. The lady that I spoke to was extremely soft-spoken and sympathetic. She began to apologize repeatedly for the confusion on the scheduling departments behalf. She explained to me that under any circumstances should I have been told there would be a delay in scheduling Annabelle based on her condition, I agreed... but... there is also this insurance thing that has been holding us up. She asked what was happening and quickly disregarded the concern. I informed her of my plans to move Annabelle back to CHKD where insurance would follow her in the state of Virginia and she advised me not to do that because of the amount of time we would waste moving everything, "I agree, and I do not want to move Annabelle's care, I want her with Hopkins, I want to continue testing - but you have to understand that I have been calling and received the run around for nearly a month. My daughter doesn't have months to continue to wait to be scheduled. We don't have the money to pay for this testing with cash. We barely have enough money to continue taking off work and making the Maryland trip! Above all, we need answers, fast and I am pleading and begging anyone that will listen to her desperate mother to help us. If CHKD is willing to do so immediately - that is who I need to follow, please help me move forward at Hopkins, or help me make the move to CHKD - regardless, we need to move and fast."

She paused for a long moment and asked quietly to talk with me about Annabelle's current condition and what changes have been made since we were last seen. I explained the placement of the NG Tube at their advice and the continued to decline. Not a fast decline, but definitely not much improvement like I prayed I would see. She apologized to me for what was happening to my daughter and began to speak words that made me both sick to my stomach but promised me hope on our journey. "Mrs. Bishop, I do not want you moving Annabelle, please hear me out. I am so sorry for what your family is going thru and to hear about Annabelle's condition - however, I want you to know that within this department, we have seen many 'Annabelle's', we feel as though we have a finger on what is happening to her little body. We continued testing, I believe we will find you a diagnosis. We have treated many of these same cases and would feel best to continue to keep her in our care at least until we can place a diagnosis and treatment for her." I exhaled and smiled the biggest sigh of relief. For the very first time I thought to myself "Oh my gosh, Im not alone! There are many more of me and Annabelle's out there!".. then the guilt hit me, "Oh no.. there are many more Annabelle's out there... my God I don't want ANY one, ANY child having to live this! :( " Once she explained the situation and their experience already with this type of condition, I knew immediately I cannot move Annabelle - the best chance we have to helping her is by keeping her in the hands of those that have experience dealing with this already. I agreed with the Genetic Counselor "Thank you. I will, I will keep her at Johns Hopkins. You tell me what I need to do and we will be there."

I was transferred back to scheduling and he confirmed more of my insurance information and assured me that insurance would be handled from here on out with Hopkins and that needs to not be a worry that I carry with that hospital any longer. He then read the most beautiful words, "We want to see you next week Mrs. Bishop. 1:00pm, a team will be waiting for you."

Thank God, we've made headway! We've made progress! and poor Annabelle couldn't escape my tight arms fast enough, the moment I wrapped her in them. This weekend was the break in the clouds that my sanity and stress needed. I felt energized (somewhat). My nerves are still shot and I no longer have any control over them.. but at least I didn't find myself in a sulking pit of sadness all weekend. I found myself outside and enjoying life with my little girls!

We went to the State Fair Saturday. I was truly worried to death about the trip. I packed half a pharmacy and parked super close in case we needed an emergency escape. As we walked around, I scanned and placed every single paramedic and medical personnel I could find 'just in case'. Annabelle did alright. She was tired and sat in the stroller 99% of the time. I took her on the Ferris Wheel and she cried until she gave up and laid her head on my shoulder and just watched the world around her. Annabelle enjoyed seeing the Animals, she was a bit surprised when she met a real-life cow for the first time.. I don't think she believed me when she recognized that a cow was not the size of the picture in our books at home.. in fact, a cow is much larger! :)

Madelynne had a wonderful time at the Fair. I was a bit disappointed that Annabelle couldn't have more fun, but this is her life. She was just too tired to enjoy much and that's ok. At least she had a better scenery than the four walls of our house and Mady was able to get out and run her little heart out.

This Week so far


Monday we have an appointment with Occupational Therapy to conduct an assessment to address Annabelle's continued therapy needs. There are a few things the Speech Therapist has addressed we need to have assessed, and I also would like to begin Annabelle in Feeding Therapy. She is still not eating well at all. On the days she really has an appetite, she cannot eat an apple and sometimes potatoes without spitting most of it back out to take another bite - then repeating the process. She is forgetting the Chew-Swallow process and I have no clue how to teach that to her. AK and I are both scratching our heads. Who would have thought that 6 months without eating, and she would forget how to do so.. I would have never guessed this is where we would be.

Tuesday Annabelle has an appointment with Dr. Young to touch base in the office again and also address some skin pigmentation issues that I have been noticed appear more and more lately across her body. The picture is a bit difficult to really tell what I am talking about (it's much more clear in person, I promise).. but there are three spots on top of her leg and one around the side/back of her calf. Her skin forms these splotches of WHITE skin.. they start out very small and grow larger and larger. They're everywhere. She has several around the back of her neck / top of her back that began looking like these and have grown so large that the entire back of her neck is a white patch of discolored skin.

The more I read about Inborn Errors of Metabolism, this is actually a common sign. I don't know if that makes anything more reassuring or not - but at least it does solidify that hopefully were on the right path to the correct diagnosis. 



Wednesday Annabelle has Speech Therapy and a consultation with our Clinical Coordinator with the county / Health Department. I need to sign more paperwork and discuss a couple concerns and changes that I want to make with her care moving forward.


We still have not had any luck finding care in our home. My wonderful grandmother has been a god-send and is staying home with Annabelle each day, rocking her and loving her all day while I cannot. I pray every 2 1/2 hours Annabelle will take all her feedings and I can avoid having to leave work to give her a bolus via pump to ensure the feed is met. I hate having to pull away from work - I need stability in my life for more reasons than one!


Annabelle & Madelynne's vain favorite past time is playing with my phone and watching themselves in the camera to take pictures of them self or the other.. I quite often pick up my phone to find 35 new pictures taken.. most the time they're blurry, but these were actually pretty cute. (I need to ask her how she changed the settings, and perhaps she can give me a tutorial on how to work my phone .. )