Surgery #1

“She needs a biopsy of her GI tract.” Moments later, “while she’s under, we’ll do a pH probe to check her reflux and then we also need to put in a NG (nasogastric) tube to make sure she can tolerate feedings and to get her electrolytes normal for the G tube surgery, which will occur 2 weeks later.” He handed me a 7-page blood draw order and told me to wait for his nurse to come in to schedule. He was very kind and listened intently. He was very calm. I had brought all of the kids, thinking this was just a quick appointment in which he would throw up his hands and say, “Good luck with the G tube, you don’t need me.” But I was wrong. His sweet nurse must have seen my deer-in-head-lights look on my face when she came in. She did, however, tell me that the NG tube may need to stay in for those 2 weeks before the G tube surgery. She tried to soothe me by saying the nurses would be there to teach me how to use it and also how to put it back in, just in case it was pulled out. (Instantly, the image of Josslyn trying to cut off her cast 3 years ago with safety scissors came to mind. It was suddenly not as funny in this moment as it had been then.)

I am grateful to have an amazing medical team at Nemours in Orlando. I am grateful that after all these years of “Failure to thrive,” these doctors have answers.

But, let’s face it: I’m terrified. I don’t want to see her in pain. I don’t want to see her fighting with the nurses and with us over this tube going through her nose and down into her stomach. And I don’t want her to not be able to handle the feedings. Because, then it will be a whole another scenario and nobody has explained that yet.

I’m slowly counting down the days when this surgery will happen. No longer will I get to check “NO” on the questionnaires asking if she’s had surgery in the past.

I’m also not sure she’ll be ready to go back for her G tube surgery just 2 weeks later. Will she ever want to go back to Nemours? She went from loving it there to dreading it. She’s not excited about the G tube anymore. Too many appointments with too many trips to the x-ray department. We haven’t gone to have her blood drawn because I know she’s going to freak out and I’ll have to hold her down again.

 It’s not easy to do that even when you know it’s for a good reason. Just like, when my grandfather passed away. I’m rejoicing that he’s in heaven with his family and being the life of the party as he was here, but I miss him. He hasn’t really been “him” for years due to dementia, but that doesn’t diminish the fact that I miss him. I’m so thankful I went to see him before he passed. The moment I sat down on his bed, our eyes locked and he smiled at me. Then he took my hands and pulled me to his cheek, where I knew he wanted me to kiss him, which I did. And he smiled for a moment after that, before his eyes stared past me and he didn’t smile at me again for the rest of weekend. Yes, he’s home now. And he’ll smile at me again someday. But for now, I vacillate between sorrow and joy.

I heard today that my friend’s son is going through some of the same testing. I was immediately happy to have someone to talk to, and also, very sad that she is going this with her son too.

It’s hard to have such differing feelings at the same time. I’m stubborn. I pick a side and I stick with it. Having to be 2 things at once is beyond my scope. It makes me want to bury my head in the sand and not come up until I have figured things out. Except, I can’t figure things out. I have to trust these specialists. Most importantly, I have to trust God.

He wants me to do something with all of this…He’s trying to tell me something. (Kinda like in Nemo…I’m Marlin about to escape the East Australian current to head to Sydney; not understanding a thing the turtle is trying to explain.)

But for now, I frankly don’t want to hear that Josslyn will be ok. I don’t want to hear that I shouldn’t worry. I just want people to pray for Josslyn and send her lots of fun things to do in the hospital and at home. 

And I want to help those who will follow in our path. I want to make it easier for my friend and her son.

I just want the best for my daughter. Even if it’s a worst-case scenario for me.

Swallow study at Nemours

Today was a good day.

Today, I threw my older children at my best friend who was having a bad day. Just one of those days we all have. She didn’t tell me she was having one of those days until AFTER I traveled 2 hours away from her and was finishing up with our second of three appointments…she is my best friend and I love her forever!

Today, I met a sweet mother and her 2-year-old son who pushes himself into everyone’s lives around him to bring conversation and most importantly friendship wherever he goes! He has SMA (spinal muscular atrophy). Look it up here. He has this spark about him that I have rarely seen. His eyes light up and he is genuinely happy to see you, meet you and speak to you. But most importantly, I see we met for a reason. Here was a sweet mama who sees the same neurologist as us, and has a miraculous story as well. We made a connection. It was a relief to meet her and be able to share our lives. I look forward to speaking to her more. Find his story here.

Today, our daughter is one step closer to a feeding G-tube. She is not gaining weight, but also not losing weight. She grew 1 inch in 2 months, when it had taken her 6 months to grow 1 inch previously. Josslyn is thrilled with the idea of having a tube. SERIOUSLY. I spoke to her about it months ago and equated it with an umbilical cord: “You’re going to have a special tube that takes in food straight to your belly just like when you were in mommy’s tummy! You don’t have to chew it or anything!” She squealed with delight and not exasperation like I thought she would. In that moment I saw God’s gentle and loving spirit glow even brighter in her. She’s amazing. (I wish I had it on video! I am thankful Joel was able to hear her. I think that’s what helped him accept it.)

Today, I scheduled 7 appointments and rescheduled 1 appointment. I still have 2 appointments to schedule. They have a wait list, so I’ll be answering my phone any time it rings in the next few days or weeks. There won’t be the option to just wait and see who leaves a message. That could add another week or so.

Today, I was overwhelmed by my family and friends offers to help. My best friend offered to take my big kids for any and all appointments coming up. My aunt and uncle offered to help in any way possible. My friends from all around the world have been praying for today.

Today, my son prayed to God, thanking Him for the time Josslyn and I got to spend together. Dylan was not upset that I was gone for the day, but thankful. This is BIG people! The Holy Spirit has been working on him lately…it’s like a Holy Growth Spurt! (Ha!)

Today, I didn’t come home and sit around worrying about the next appointments. I didn’t google G-tubes. I didn’t throw on my pjs and go to bed. I got dinner together, helped with showers & pjs. I unloaded and reloaded the dishwasher. I scrubbed the pots that have been sitting, for a day, dirty on the counter. I listened and read along with my big kids to their books they each picked out, and then read aloud a chapter from the book we are reading together. After I put the kids to bed, I folded laundry and talked to my husband. I got ready for bed and felt compelled to write…because today was a good day. Today God gave me a tiring but good day. He gave me peace. He gave me strength. He gave me all of these people in my life. He orchestrated today. My God is an awesome God.

Truth about anxiety and how I’m coping now:

I do NOT like surprises. I don’t know how young I was when I resolved this to be true for me, but I do remember knowing this from a very young age. You can see this is true when for example, I run into you at the grocery store unexpectedly…I am awkward, I am shy and I am not prepared to see you at that moment. It’s weird, I know. I don’t like that aspect of myself, but it’s me.  My family can also attest to the fact that I would unwrap gifts before Christmas to see what I was getting before the big day…I may even have switched some of my sisters’ gifts with mine (insert evil laugh!) My mom can vouch for this and her frustration at me!

So, now I’m an adult and I still don’t like surprises. I also don’t like not knowing things. This makes me a great student…I LOVE learning new things. Even chemistry 1 & 2, and biochem. Seriously.  I am also determined and willful. Ask my dad. I am so willful; he says I willed our dog to have 7 puppies even after she was “fixed” at the Humane Society! And I am so determined, that if you tell me I can’t or I won’t…I will and I will ROCK it.

So when Josslyn befuddled all of the specialists…I was even more determined to find an answer. However, in the process, I felt befuddled too and totally out of control of the situation. Another aspect of being willful, determined and not liking surprises is that I do not like to be out of control. And when I’m out of control: Cue anxiety.

Some people eat a lot when anxious. Some people don’t eat when anxious. Some people, like me, have bodies that go into such an extreme level of stress that I lose weight no matter what I eat. And I was body shamed by my family and friends. It was hard. I was eating. I was exercising. And I was super skinny. I didn’t like looking in the mirror, or trying to shop for clothes. The smallest sizes were still too big. It was not fun.

My whole body was also inflamed. My hair started to thin because my scalp was inflamed. My annual tests came back out of whack because of the inflammation inside my body. I went to the ER due to painful stomach issues and viral illnesses that never seemed to go away. My body was inflamed, stressed and I was anxious.

Anxious for an answer for Josslyn.

I struggled with this anxiety and depression like a never-ending roller coaster for 3 years. Maybe more if you include post-partum depression which loves to find me after each delivery like a neat little package all tied up in a pretty bow delivered to my doorstep 2 weeks after delivery.

I would have insomnia for a week before any new appointments and then not want to get out of bed after each appointment because there was still no answer. I hope my kids were young enough not to notice these things, but I’m sure they did. I would have fits of crying, hopelessness, rage, and then back to “normal.” I put on a happy face in front of friends and family. I didn’t feel authentic, and I also felt ashamed. Here I am a Christian, and I am not relying on God. Here I am a strong mother, and I am collapsing under this enormous weight I can’t stop thinking about.

Sometimes I was fine. Sometimes I found joy. Sometimes I found laughter. Sometimes I felt peace. Those times were what gave me strength and the ability to keep going. Joel, friends and family helped me immensely. I cannot forget the help of friends when I needed them. (Another blog post coming up on support).

I went to my primary care doctor a few weeks after Josslyn’s appointment with Dr. Finkel and I broke down. I told her what I had been going through and that I needed SOMETHING to help me. I love my PCP. She gave me a huge hug and spoke kindly to me and then gave me a prescription for Zoloft. She referred me to counseling services and told me to come back in a month. (I haven’t found a counselor I can consistently see, so if you have any recommendations, I’d be happy to hear them).

I immediately filled the prescriptions and started to take it. I got a really bad virus and stopped the medication for 2 weeks to recover. I started it again and I haven’t stopped.

I am a new person. I am calmer, better able to see the silver lining and not get bogged down in this mess called life. I still have anxiety attacks, for instance before seeing a new specialist or when I think about the questions for the future, but they are fleeting and manageable. I can enjoy life again. I am not pretending. I am not crushed under the weight of what this world has given me. I am a better believer. Crazy to think, but I am. Having self-control and clarity of mind has helped me to be the person I am supposed to be and God designed me to be. I can be a homeschooling mom, Guardian ad Litem, and start my own organization business. (You can contact me if you need any organizational services).

I still don’t like surprises and I’m still pretty willful, that will always be me, but the anxiety is not what I want to be. I am so happy I said yes to Zoloft.

Will I always be on Zoloft? Maybe. And if I am, does that make me a bad person? Does that make me weak? Would I/Do I feel ashamed?

To all of those questions: No.

Don’t think you are ok when you are not. Don’t assume you can get through this yourself. You are not weak when you say yes to Zoloft or any other medication for anxiety, depression or other mental illness. Hopefully you won’t feel ashamed, and you’ll try what your primary care provider suggests after you tell her or him the whole story. Don’t just walk in and say you are fine and nothing is new…walk in there with your head help high and plenty of tissues or even with a letter to them if you don’t want to rehash everything outloud. Somehow you need to get the help you need and deserve. Life is messy. And you may need some help in this mess. Don’t deny yourself joy and hope because you are proud or feel ashamed.

Best of all: my inflammation is gone, my hair has never looked better, I’ve gained weight, I can shop for clothes that fit, I can run like I’ve never ran before, I’m a better wife, mom, sister, daughter, niece, granddaughter, friend…and oh yeah, I don’t have debilitating anxiety attacks anymore!

I still don’t have all the answers to what the future will be for Josslyn and us, but I have hope. And no, that doesn’t come in a bottle; it comes with believing in my Creator and having trust in His path for Josslyn’s life and mine too. I have also learned that I will not know what the future holds and I’ve had to let the control go. I have to let it go every day. It’s hard, but worth it.

A letter to the mom who just found out her child needs therapy…

You know your child better than anyone. But here you are, in the pediatrician’s office and they are suggesting your child is behind in motor skills or speech.

They give you a referral and a little pamphlet with some information.

The ball is in your court now mama. Don’t panic...but do run!

Run home to research which therapy location is the best and closest to your house…you’ll be there a lot. Chances are you’ll be there more often than grocery shopping for the next few to many months.

But that’s ok. It’s great actually! Your kid is going to be able to pull themselves up, or speak clearer words, or even just be able to move their head side to side…which, let’s face it, would be more than what s/he is doing right now.

It’s hard to admit your child is
behind.

But don’t avoid it.

It’s just therapy.

It’s just life-changing skills for your child.

Again, RUN to it!

Run…run to their physical/speech/occupational therapist right now. It will change their lives and yours.

That’s your job. Yes, we need to keep them alive, fed, and changed but also to help them live life in the best possible way and with their best possible abilities (which may need a helping hand).

Don’t wait until they start school…

Don’t wait until for their next birthday…

Don’t wait for your kid to “catch up.”

DON’T WAIT!

It will be worth it. I promise.

Let’s start from the beginning… a very good place to start…

We were so happy to have our third baby…but weeks before September 11, 2010, I was hoping to deliver a healthy baby: EARLY! That did not happen. 3 days after my due date, I finally went into labor after Joel finished the Florida football game against USF. We made it to the hospital in record time, since the game was away. After my water broke (my nurse, a 35-year-labor & delivery veteran said she had never seen that much water!), I called the time I would deliver…“approximately 45 minutes from now.” Yes, I DID! My midwife returned 45 minutes later to humor my statement and found that she was going to be catching our baby minutes later. Although I had called the time of delivery, the delivery itself was rocky. Baby did not want to come out. She did and she received a 9 on the Apgar scale. And we finally found a perfect name for her: Josslyn. (Please note: our second child, Laura Claire will possibly need to go to therapy as we changed baby’s name from Lila to Josslyn at delivery. So when the kids came to see their new baby sister, Laura Claire anxiously asked, “But where’s baby Lila?” And she continued to ask for months afterward!)

Once home, things went as smoothly as riding a camel in the desert with a baby and 2 kids riding along on your camel needing you, constantly. Ok, it wasn’t that bad, but I’ve pretty much forgotten all unhappy memories from those times due to sleep deprivation. Anyway, 2 months in, and I was concerned. Josslyn did not pick up her head during tummy time, at all. Pediatrician told me all kids are different and “wait and see.” This was the beginning of our roller coaster. I switched pediatricians because naturally, he was wrong and I was right, and I was going to find a pediatrician who understood that something was not right. Another one told us that she would need an MRI and neurology, when I asked him for a PT consult. We were not jumping into an MRI until we tried physical therapy. She was seen and diagnosed with Torticollis. We did PT a few times a week and continued at home. Joel’s aunt, who is awesome, is a Pediatric PT and she was very supportive during this time for us.

Josslyn got better, her torticollis was gone, but she was still very weak in her neck. She wasn’t rolling, pushing her head up…doing things our older “monkey children” had done much earlier. Something was wrong.

We switched to a new pediatrician, got an Early Steps evaluation, switched to a closer PT. We also went to our first round of specialists: spinal surgeon, orthopedist, neurologist, geneticist, gastrointestinologist, cardiologist, and pulmonologist. An x-ray had shown an ossification (an extra bony growth) on her cervical spine (C-2), that looked “promising,” said our doctor who suggested spinal surgery to correct what “ailed her.” After some MAJOR praying…upon seeing the spinal surgeon, he re-evaluated her and did another x-ray, which showed this bony mass was extremely small and could not be the culprit. PHEW!!! We were happy to pay the $300 for the 10 minutes it took him to tell us that!

Onto the next possible diagnoses: Cystic fibrosis (no), Genetic abnormality (no), and countless others that I have ejected from my brain. All of them were a NO, NOT EVEN CLOSE! We did multiple blood tests, multiple x-rays, and an MRI. “Nothing was wrong,” they told us.

Specialists at Shands Hospital in Gainesville could not help us, so they told us what all doctors should say to their patients and parents…”Go, and come back in 6 months. We’ll wait and see if she gets better.” (Yes, not the answer most qualified, professional specialists should ever say!)

Well, we waited. I went through a tremendous amount of anxiety and depression. Did I also mention I went back to school to finish classes in Chemistry in order to apply for Physician Assistant School and working full-time? It was an awful combination. Thankfully, Joel and I managed to keep it together and we came out stronger because of it. (More on anxiety and depression in an upcoming post). Long story short: I went back to work, finished my classes, all while we were in the “Wait and See” period. I didn’t get into a PA school (devastating…did I mention the anxiety and depression?!) but I was ready to quit working and be back at home with all of my kids.

We now decided to pursue an answer…nothing was going to stop us! Big kids went to a local school and we began to see a new neurologist at a new hospital 80 miles away. He performed tests and when the tests came back negative for SMA (Spinal Muscular Atrophy), he told us …. Wait for it … “Go and see my colleague Dr. Finkel at Nemours in Orlando. He’s much more specialized and if anyone would have an answer for you, he will.”

AMAZING!!! Here was a doctor who had done everything in his scope and when no diagnosis was found…he referred us to a doctor that was more knowledgeable and had a wider scope of neuromuscular issues.

We went to Dr. Finkel in Orlando (130 miles away) on Wednesday, February 5, 2014 at 4pm. He was immediately warm and personable. He did ask me to rehash the whole story of Josslyn and so I did. He took detailed notes and asked me questions along the way. When we had finished all of that talking, he had Josslyn and I go for a walk where he watched her walking, running, timed her going up and down stairs, getting up and laying back down. Josslyn LOVED this! She is competitive in a quiet way, and loves to show all that she can do! We went back into the exam room, where he examined her. All this time, a genetic counselor, Carrie, was with him. She is always kind and sweet. We spent a total of 2 hours with him and Carrie. They are AMAZING!

When Dr. Finkel said, “SEP-N1,” while examining her back, and at that statement my stomach plunged, my heart skipped a beat and I had this nauseating feeling that we were finally going to get an answer! Then my mind went crazy: would it be an answer I want to hear?! Would it be better not to know? What will this mean for her? For us? And then God gave me peace, a peace that surpasses all human understanding and He told me to be calm. I fought back tears. I could feel this was it…finally.  Dr. Finkel explained what SEP-N1 is (a gene on the human genome that is newly recognized as being a genetic marker for people with the umbrella term of Rigid Spine Disease). We spoke about genetic testing and how that would be done. Josslyn hugged him and said she couldn’t wait to come back again!

On Tuesday, April 22, at around 4 pm, I received a call from Dr. Finkel and Carrie. Josslyn was positive for the SEP-N1 genetic test as she has a double mutation on her SEP-N1 gene which was extremely rare and in fact, there were only 2 cases on record with the same mutations: a brother and sister in England. (Note: We have tried to contact their doctor through our doctor, but have not yet succeeded. If we can get in touch with them, we would be able to ask them specific questions and see how their children are doing now at around ages 10 and 12.)

Our world was both blown up and rebuilt. We finally had an answer for Josslyn.  

Josslyn is very rare…we already knew that! Even though it’s been more than a year since we’ve received a diagnosis, it doesn’t get any easier knowing that your child is different and her future might look very different from what you have imagined it to be, (which is a very selfish way to look at it…but I’m only human, and I try not to think like that). As my Uncle Tom told me when the diagnosis was new and I was very upset: “This is not a death sentence.” That was just what I needed to hear. She’s going to LIVE her life. She is a kind, sweet, bubbly, strong willed, giggly girl. And we are honored to be her parents.

Welcome Josslyn!

Josslyn at Nemours