“Our Diagnosis Journey” -Shelly

Baby in Hospital Bed

Some background to our story; I work in a well-baby nursery and Neonatal intensive care unit,  and most of my friends do as well… My entire pregnancy was documented and witnessed by these people, and they were so excited to be among the first to meet my daughter. I had the perfect pregnancy.  Minimal nausea, no swelling, optimal weight gain, and no blood sugar or high blood pressure issues.  So when at 37 weeks my doctor announced I was oddly measuring 2 weeks behind it did take us all off guard.  We were given a diagnosis of “small for gestational age” then sent home on bed rest for a week until I was too be induced. Once the day finally arrived everyone on the floor was excited!  Every single one of the nurses had patiently waited  9 months to meet my little girl.

Delivery dayI got to have 10 glorious seconds of new mommy jubilation once she was born before the mood in the room drastically changed. As soon as she made her first noise of life it was evident something was clearly wrong.  My two nurse friends that were in the room with me shared nervous glances and quickly went to work. Before I knew it they were taking my baby away to the nursery to be placed on oxygen and more closely monitored.
The minutes could not go by fast enough for me to be able to get up and walk to the nursery.  The second I reached the door one of my coworkers stopped me and the first words out of her mouth were, “Shelly I don’t know what’s wrong but she is so so floppy and keeps tremoring. I’ve checked her sugar three times and it’s normal.” “It’s OK” I reassured my friend, “I just want to see my baby.”  Unknowingly it was then my very brave special needs mom arose from inside of me and gave me a strength I didn’t know I had. We spent 4 days in NICU before we finally got to go home.
Thankfully I have been blessed with the world’s best pediatrician known to man. She listened to me when I expressed concern about how floppy Lilah was and how nervous her hand and feet tremors made me. At  2 months old we were referred to Norton’s Children’s neurology. Boy was that appointment terrifying!  The initial doctors we saw didn’t know what to think of her tremors and poor muscle tone… “hypotonicity”-a word I was soon going to get very familiar with. They sent us to be admitted with a possible brain stem lesion. We had an EEG, MRI, tons of blood work… all of which came back normal.
Shelly pregnant in scrubsNow you think I would have been overjoyed about this (which I was very thrilled nothing serious was found),  but I was dismayed that we didn’t have any answers. By the grace of God, our rounding neurologist was a Neuro-geneticist. And thankfully he knew (down to his bone) something genetic was wrong. This lead to our simple DNA study,  in which the abnormalities lead to our appointment with our main geneticist, who ordered a full DNA sequencing on my daughter, my husband, and myself.
From April to July, I waited for these results.  We knew she inherited something from my husband because he also has the tremors and has poor muscle tone.  He spent 4 months in agony thinking he had caused her harm… and I spent 4 months letting him be in agony because I needed to blame someone. (I know… wife of the year was clearly not going to me.)
FINALLY, the day came when my phone rang with our Geneticist’s office number. ” Your daughter has creatine transporter deficiency.” A DIAGNOSIS!! I had an answer to why my, now 9-month-old, was so behind in motor skills. (She still hadn’t rolled over yet! ) Afterward, he explained CTD to me in a very, very brief and simple way.  I oddly asked, “And this is genetic? She inherited this?” Fully anticipating the confirmation that it was in fact my husband’s fault. I’ll never forget his answer. “Actually, yes and I know we did this testing thinking she inherited something from your husband since their symptoms match,  however you are the carrier for this. She got it from you.”
Blow. To. My. Heart.
The rest of the phone call was hurried formalities… appointment made for a follow up, paperwork in the mail, etc, etc. As soon as I clicked end call on my phone I completely and totally lost it. I cried for hours. Cried because it was my fault. Cried because I had blamed my husband for so long. Cried because I had been such an awful wife for letting him carry that burden alone all those months. Eventually, I pulled myself together before my husband came home. As soon as he came in the door I took a deep breath and told him the entire conversation and ferociously apologized for breaking our daughter. He pulled me onto his lap and very Baby at 9 monthssternly told me our daughter did not deserve for me to label her as broken, that she was perfect just in the way her creator had seen her in his eyes. And that the only thing I did was bless him with the most wonderful gift of fatherhood; with the most beautiful baby girl he had ever seen. (Did I forget to mention I literally have a perfect husband? I’m talking sainthood here, guys!) He let me cry for another twenty minutes or so, then told me I had to pull myself together because he was awful at researching and we needed info to know what we were up against.
That very day I found this website. I read someone else’s blog about their diagnosis story. I joined the support page on Facebook and it’s been the best second family I could have ever asked for. I hope if you’re in the same situation I was in, that you find not only answers to questions, but an inner peace knowing that we all had THAT moment on diagnosis day.
You are not alone. It’s not your fault. We are right here. We will get through this together.

 

Disclaimer: All thoughts and ideas expressed in the Creatine Community Blog represent the individual blog contributor's opinions and not those of the Association for Creatine Deficiencies. The ideas expressed in the Creatine Community Blog, and any other locations on the creatineinfo.org website, should never be construed as medical advice, even if the information relates to actual health care experiences of the contributor. Individuals should always follow the instructions of their physician and make no changes to their care unless instructed to do so by their physician.