Father, Son, Holy Spirit, Prader willi

Providential Hands

Life can throw us curve balls. Just when you think everything will line up smoothly and all the ducks are in a row behind your marching orders, here comes life with a gust of wind to undue your hard work. Maybe, just maybe that gust of wind is a breath of fresh air.

Jeremiah 29:11 “For I know the plans I have for you, declares the Lord, plans for welfare[b] and not for evil, to give you a future and a hope.

Well that just makes me think. Were all these hard days planned? Were they all leading up to something good, a future, a hope? Yes and no. God does not say here that he plans our Christian lives to be without suffering or without sorrow. He does say, if we look just a verse or two after Jeremiah 29:11 that if we seek Him we will find Him. God’s plan seems to be that we find Him, our future, our hope. It seems in the suffering we see Him more clearly. And God takes the hard days, molding them into experiences for His glory.

Proverbs 37:4 “Delight yourself in the Lord, and he will give you the desires of your heart.” Proverbs 37:3 says “trust in the Lord.” Proverbs 37:5 says “commit your way to the Lord.” When we trust the Lord and have a relationship with Jesus, our desires become His desires. Our wills start to align.

~*~

No more than three days after our week long stay at Seattle Children’s Hospital did the phone ring. Her familiar voice, now on the phone, gave me the results of the final genetic blood work. Honestly, my emotions were a bit dull when I spoke with her. In my heart I knew what she was going to say. I was ready for an official diagnosis.

“It was what you thought. Her test was positive for prader-willi syndrome. Now this is what we can do.”

I sat down to give the neurologist my full attention. I deliberately calmed myself with a few deep breaths so I could focus on logistics. There was a prader-willi clinic at the children’s hospital where a multi-disciplinary team of doctors would see children and follow their care. The clinic was in high demand and space was limited. Appointments were four to five hours long. The next opening would not be for another five months. I did not care how long we needed to wait for the clinic, so we were placed on the list and told we would meet with the neurologist again in three months when she traveled to Juneau.

Relief, sadness, guilt, shame and a dozen questions filled my heart and head. Relief for a diagnosis. Sadness my daughter would not have the future I envisioned. Guilt that there was something I could have done to make her normal. Shame that I now have a special needs child. Questions of what the future would hold, how will she hit her milestones, if she will have a normal IQ, if she will have behavioral issues, and the list continues. I remember grieving her future. I still grieve but it looks different. The grief still stings deep within my chest. What I had planned for my daughter would likely not be her future. Even with grief clinging to my heart, sitting beside it were arms wrapped tight with providential hands yielding trust, hope, and a new direction for myself and for Elsa.

~*~

It was Monday morning in a familiar doctor’s office. My pediatrician, David, and I sat together talking about our plan for Elsa. She was now gaining weight appropriately, although not yet on a normal growth chart. David and I were now ready to press on with Elsa’s treatment and organize doctors for her care. My pediatrician left the room to answer a phone call. The neurologist was on the other end. There was a cancellation for the prader-willi clinic at Seattle Children’s Hospital on Wednesday. David and I looked at each other, our eyes a little wider and jumped at the opportunity. She explained there was a possibility of her being seen but we would not know until the next day for a conformation. We were on stand-by and I was quickly planning arrangements for the boys and looking at flights. My doctor was shocked! 20180723_075328

Tuesday. The phone rang again. They could see Elsa at 1pm the next day. Of course I said yes even though it was less than 24 hours notice. We set plans in motion with day and night babysitters. Thank you Shelley and Hannah! The boys had their best Juneau Aunties to watch them for two days. David and I left at 4am for the airport with Elsa planning on a one night stay in Seattle. As we enjoyed the time just with Elsa, we talked about her future. We talked about our marriage, our need to be a team more than ever. We needed to press into our faith with more determination and focus.

I was always nervous and anxious when the nurse took her measurements. It was like she was measuring me and my ability to feed and care for my child. The first to come in was a nurse coordinator. She was so excited to meet us and hold Elsa. It was the first time someone looked at Elsa like she was a normal child. She gave us resources for PWS and websites to look up. Next was the geneticist. She explained the process of mutations and deletions and exactly what kind of PWS Elsa has, which is maternal UPD. Next was the endocrinologist. She had information on needed blood work, hormone regulation and a plan for growth hormone. A baseline sleep study would need to be done before IMG_20180714_094133_302administering growth hormone. The third was our pediatric neuro-developmentalist. She explained early intervention with PT/OT/SP which we luckily already had in place. Fourth was the Nutritionist. I handed her our notebook of every feeding time, amount taken, calorie counts, and weekly weight checks. She confirmed Elsa was doing well and frankly a little surprised she did not need a feeding tube. Next was the cardiopulmonary doctor. We talked about labored breathing and the need for oxygen at night. We spoke with a sleep specialist. Little kiddos with PWS tend to have obstructive sleep apnea due to low muscle tone. So far, Elsa was not on oxygen.

David, being my husband who jumps at opportunities and thinks outside of the box blurted into the conversation. “Well, can we get a sleep study for apnea tonight? We only scheduled our trip for one night.” The two doctors looked at each other and said it was far fetched to find anything on a few hours notice. The clinic is booked months out in advance but they would call and ask if there was anything available.

I was a bit overwhelmed. We had seen six doctors in four hours and drawn multiple veils of blood. We waited in the office to hear back from the sleep center. The nurse coordinator came in laughing. There was a cancellation and we had the spot for Elsa. David and I quickly arranged for transportation to the sleep center and to the hotel to grab his belongings. There was only room for one parent to sleep. David would go with Elsa and I would stay at the hotel. We kissed each other goodbye in the hotel lobby and said we would see each other at the airport in the morning.

I’m chuckling to myself as I write this post. It was a whirlwind, not a gust, that took a long six month or longer process to have Elsa on growth hormone. It took less than a week for us to find a team of providers to care for her. It took another two weeks for insurance to deny, then approve growth hormone. A week later, the result of the sleep study came back. Elsa was in the clear to start growth hormone and she would not need oxygen!

My pediatrician, physical therapist, occupational therapist, and speech therapist all said the same thing. Someone must have been working this all out. And yes, someone was working all these hard days into something good. God was showing His glory to our providers. He was showing us His glory in taking Elsa into his hands. He was answering prayers. We trust in the Lord, even when we suffer. We commit ourselves to the Lord, even when it seems unclear and questions fill our heads. And like a breath of fresh air, our wills align, to bring Him glory.

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Prader willi, Uncategorized

Dark Rooms, Part 1

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Memories exude a color in my mind. Darkness is the only way to describe a week I did not expect in our journey to a diagnosis with Elsa.

I frequented our pediatrician weekly for weight checks. I pulled myself together for each visit and thoughtfully placed Elsa in her car seat with all the towel propping for our 15 minute drive. I pretended I was brave and non-emotional for each visit. I put my clinical hat on for the hour to discuss every little minute, hour, day of Elsa from week to week. I did this until my pediatrician said she suspected seizures. I couldn’t hold it in anymore. I broke down in tears and bewilderment. Was I not catching seizures? Was I a terrible parent?

It only took a day to schedule a flight to Anchorage and see the pediatric neurologist for an EEG. This would monitor her brain activity, asleep and awake, for signs of petite mal seizures. My husband and I arranged our schedules for our two boys, his work, and my travels to Seattle. My friend would pick me up from the airport and drop me off at my hotel. My aunt would meet me the next day at Seattle Children’s Hospital for support.

I was relieved we would see a neurologist quickly but scared there was something more serious going on with Elsa. I had bittersweet moments throughout the day. Thoughts were constantly on her feeding schedule, her wakefulness, her facial expressions, just looking for signs of seizures. It was all my brain could focus on.

This was my first time at Seattle Children’s, a place where I would call home for a week. It was a place where the twisting hallways become my walking route for exercise. I was tired but anxious for her EEG. It was the first appointment of the day so it was quiet in the hospital. We were lead into the exam room and the technician explained each step of the procedure. 20180627_092441Her limp arms did not protest all the wires and goop placed on her head. It would take 30 minutes where we sat and watched her drift from sleep to gentle arousal. My heart was full, heavy, and anxious. I sat in a rocker next to the table staring at her face. She slept peacefully with minimal facial expression. I finally took my book out to calm my mind and preach to my soul.

Kiss the Wave: Embracing God in Your Trials has pointed me back to Jesus in my dark rooms. I was only on the second or third chapter at this point but it reminded me through suffering and anxiety, through heart wrenching moments, Jesus is still in loving care of our hearts. Pages are filled with scripture that I prayed over Elsa, prayed into my heart, and pleaded with Jesus for peace. It was a reminder that God did not leave me, I was not alone, and I had Him to call upon in the darkness of night.

I prayed these over Elsa as she lay on the treatment table.

The Lord has established his throne in the heavens, and his kingdom rules over all. (Ps 103:19)

I know that you can do all things, and that no purpose of yours can be thwarted. (Job 42:2)

God is our refuge and our strength, a very present help in trouble. (Ps. 46:1)

 

~**~

 

Goop was still in her long curly red hair when we left the room. We had to wait another two hours to see the neurologist for the results. My aunt and I ate in the cafeteria where parents and children gathered to escape their hospital beds. Families loomed over the television screen that displayed if their child was in surgery or recovery. You could feel the heaviness that fell on individual tables. You could palpate the anxiety of uncertain outcomes of a daughter or son. And yet, there was light streaming through the big windows and smiles on the children’s faces as they talked with their siblings.

It was time to see the neurologist. Maybe it was on my face or maybe I put on a façade of composure but I was wrecked with anxiety. The nurse measured her head, took her height and took her weight. I was keeping track of all three on my phone and I knew this was not good. She had plateaued. My façade was gone. Tears had already filled me eyes as I met the neurologist for the first time. She gently looked over Elsa. The good news was no seizure activity. This was my small light in the darkness. The bad news, she wanted us to stay and be admitted to inpatient for further testing. Even though this was not what I had planned, it would become a blessing. It’s funny how a moment entrenches us and not long after it becomes a glimmer of hope.

Tears came quickly for half an hour as she explained Elsa was lethargic, plateaued in her weight and head circumference, needed an MRI, and additional blood work. I knew Elsa was sleepy. We lived 6 weeks of her small life feeding her around the clock. We worked endlessly to keep her awake and stimulated. I felt like my ability to mother my child was taken from my hands. My attempts had failed and I didn’t know how to fix it.

The next statement she said gripped my heart even more. I knew it to be true but I wanted something else. “I want to do a FISH blood test specific for prader-willi syndrome.” This is a fluorescent in-suto hybridization that detects errors in the genome by deletion. She also wanted to test for imprinting errors. If you haven’t read my previous blog posts, I had suspected prader-willi day 1. My physical therapy training had me over thinking everything, this included. My gut was right if the neurologist suspected it as well. Clinically I could see all the signs and physical manifestations of prader-willi, but deep down I just wanted to see my daughter. I didn’t want to see Elsa just as a clinical presentation.

One of the longest walks was taken to her hospital room. I was crying through the hallways. Holding Elsa in my arms, two case managers lead me to her room. I’m sure people were staring, but that was not on my mind. Failure was on my mind. Sadness and grief, pain and exhaustion filled my body.

It took hours to get settled into the room as nurses, doctors, and case managers rotated in and out. I hadn’t eaten but a small bite since 11am and it was now evening. I hadn’t stopped crying since we left the neurologist’s office. Once the doctors left for the day I was able to speak more with my husband back in Alaska. He calmed me down. His optimistic words filled my ears and his care for me reminded me to eat, sleep, and look after myself as much as I could. His heart always pointed me back to Jesus too, reminding me to lean on Him. Again I was reminded of a hopefulness that was buried deep in my heart. There would be light again. It might have been buried but it was still there.

God is in the midst of her; she shall not be moved; God will help her when morning dawns. (Ps 46:5)