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

First Post

This is my first post to make it known to the world that my daughter has rigid spine myopathy. She is currently only the 3rd in the world with double mutations on gene SEP-N1.

We have only had this diagnosis for 1 year and 3 months, although we knew she was different since she was 2 months old. We have also known she is AMAZING since birth. We will not let this diagnosis define who she is.

We also would never have had this diagnosis unless we had fought for our daughter. We asked  multiple specialists at multiple hospitals until we had an answer for her. There are, I'm sure, many more children out there who are undiagnosed because parents settle for what their doctors tell them...that "there is no answer," or that they should "wait and see." I am not a wait and see kind of person. And God knew that when He gave us our sweet, strong, rare daughter. 

We are thankful for her. We are lucky to be her parents.