Madilyn, or as we affectionately call her, Madi, was born on June 3, 2009. She was perfect, not a single flaw, and such a calm chubby happy baby. She progressed normally, hitting milestones such as rolling right on time.
Around 7 months, her dad (him and I aren't together) became concerned because she still wasn't sitting unsupported. I kept brushing off his concerns because I feel each child develops at their own pace. By 8 months I agreed to take her to a pediatrician, rather than just our family doctor. This doctor, who has become Madi's regular pediatrician and medical advocate, saw minor concerns when he checked her over and made a referral to a neurologist and a genetic specialist. At the time he very loosely diagnosed her with hypotonia (weak muscle tone) and also referred her for physiotherapy.
Closer to 1 year of age we saw the neurologist and his concern was a congenital myopathy (a grim diagnosis) and sent her for a muscle biopsy. Luckily, his thought was wrong, to our relief!! The genetic specialist also ran some tests, all which came back negative.
We moved along for awhile with the diagnosis of hypotonia and global developmental delay and continued with therapies. We kept being told that with therapy Madi could be fine one day.
Madi's second winter brought 3 separate hospitalizations for pneumonia, each time longer than the last. We had no explanation for the illnesses.
By the time winter 2011 came around we were no closer to a diagnosis, and Madi still wasn't hitting any milestones. Being 2 1/2 years old, she still never spoke a word, stood on her own, or crawled. She could now sit up on her own but falls every once and awhile if tired. That November my fiancé Ryan and I were going with my entire family to Mexico to get married. The day after we arrived Madi started getting sick, and unfortunately it turned into pneumonia. The resort clinic transferred us to the Americas Hospital where we met a wonderful pediatrician. Madi was admitted for the night, and while we were there the doctor had a hunch the pneumonia was caused by reflux, and along with antibiotics, he put her on an antacid. He released her from the hospital so we could get married on November 11th, one day after our original wedding date. By the next day Madi was feeling better, and she was like a whole new child. She no longer seemed to have pain after eating, and we decided it must've been the antacid. So when we returned home we saw Madi's pediatrician and he agreed to keep Madi on the medication. Still no diagnosis, but we had a much healthier Madi already. Madi hasn't had another bout of pneumonia since November 2011!
Once Ryan and I were married we decided we wanted to have another child. He loves Madi like she's his own, but we agreed a sibling for Madi would be wonderful. So our first step was going to Madi's genetic counselor to talk about the odds of a re-occurrence. Of course this was hard to determine without a diagnosis, and so the counselor booked Madi in for a follow up with the genetic specialist. By the time we saw him, I was already pregnant. During the appointment her specialist noticed new things about Madi, like her improved eye contact, but that she was wringing her hands a lot, and mouthing every object she could get her hands on. He decided to test her for 2 syndromes: Angelman Syndrome, and Rett syndrome. We went for blood work.
A week and a half later, May 22, 2012, while at work, I received a call directly from her specialist, it was the most life changing phone call I ever could've imagined... Madi had Rett syndrome.
My heart sunk... I thought I was going to be sick. The specialist explained where we would go from here, including new specialists and tests. We spent a couple days grieving the loss of what we thought would be Madi's bright future, and then I realized something... Madi didn't know anything was different, everything was the same in her world, she was still full of love and life, and her gorgeous smile still lit up the room. It was time to move on, figure out our future, and continue with life.
It's now June 2019, and Madi has a 6 1/2 year old little sister named Camryn, and a 3 year old brother named Ethan.
Madi just turned 10 and will be starting grade 5 in September. She still doesn't speak, walk, crawl or even stand on her own. Madi was diagnosed with seizures in May 2016 and is currently taking medications to control them. In April and July 2017 she had 2 surgeries to correct her scoliosis. She has MAGEC growing rods which are magnetically lengthened (no surgery needed) every 3 months to allow for growth. More recently she had major hip surgery to both hips. It's been a grueling recovery, and we have a long way to go.
Madi communicates using an eye gaze device called the Tobii!! This allows Madi to communicate with us by using her eyes!! She understands every word said, but has never been able to utter a single word.
Our lives are absolutely insane! Between doctors visits, therapies, coming up with new creative ways for Madi to express herself, trying to raise awareness for Rett, and every day life raising 3 amazing kiddos, we're kept on our toes. Every day is different but one thing remains the same... Madi is our biggest blessing, and we love her more every day. Her future is still bright, it's just leading us down a different path.
(There is a ton of research being done all over the world, and the hope is that with a cure, not only can we break our girls out of their prison, but it could potentially unleash a cure for thousands of genetic conditions, autism, Alzheimer's and Parkinson's, among others. So please donate today!)