There is no right way to start this post, but it has to be posted. And it's going to be hard. Everything is going to be hard from here on out, so bear with me.
I'm trying to remember if I've mentioned here before that Little Buddy had an upcoming genetics appointment in April. Our pediatrician just wasn't satisfied with the autism diagnosis and wanted to get more information and rule things out. Because the autism diagnosis never felt right to us either, we completely agreed. She gave us the referral in October and we weren't able to get scheduled until April. It didn't bother us. Really, we figured we find out if he had some type of auto-immune disorder, like Daddy, or maybe some other minor issue that was affecting him. We weren't scared. In fact, we barely thought about it. With him starting school and therapy, and showing improvements, nothing crossed our minds to be worried about.
Until February 26.
It was during a rare moment of peace during double naps that I was catching up on news via the Today Show website. I was just scrolling through the headlines, resting on the couch before my husband headed home from work and the kids woke up, and started reading about Eliza O'Neill, a little girl with an MPS storage disorder called Sanfilippo Syndrome. Her family was living in isolation so as to protect her immune system in hopes of getting her into a clinical trial for this rare, terrible, untreatable, incurable, progressively degenerative, eventually terminal, genetic disease. As I read through the Eliza's story again, later, I am still unsure as to what made me click the Sanfilippo link for more information that day. But I did. And I read. And I began to sob.
"Sanfilippo Syndrome is a fatal progressive disease that primarily affects the brain of children born with this disease. A genetic defect passed on from each parent results in missing or poorly functioning enzymes needed for cells to work normally. Without these enzymes, cells are unable to break down and recycle cellular waste. Over time, this waste builds up causing cells act abnormally and then die.
Children with Sanfilippo Syndrome typically do not show signs of this devastating disease until 2-6 years of age. The disease is working on them from the time of conception. However, it takes time for the body and brain to accumulate enough waste material to begin to cause symptoms like hyperactivity, speech delay, autism, recurrent ear/sinus infections. Children then begin to lose the skills they used to have- talking, walking, eating. Most children develop seizures and painful movement disorders before they pass away. Typical life expectancy for the most rapidly progressive form of Sanfilippo Syndrome (Type A) is in the mid-teens." (from www.curesff.org)"
As I continued to read on about the symptoms and research, my body began to contort with pain and tears and snot flowed freely. I was reading about my son. Large head. Prominent eyebrows. Large belly. Umbilical hernia. "Stalls out" developmentally. Initial diagnoses of autism and ADHD. Issues with potty training and normal stool production. I texted friends, scared to death. If he had this, his body would basically continue to poison him. He would lose the ability to talk, to walk, to feed himself. They told me to get off of the internet. Little Buddy was fine. I was scaring myself silly for no reason. Don't diagnose from web pages. I texted my husband, begging him to tell me I was crazy. I saw that we could do a urine test as a preliminary screening. I called my pediatrician immediately to order the test, just so I could sleep again. She ordered it and we took Little Buddy's sample in the next morning. To the same testing center where they drew my blood to confirm that I was finally pregnant with my miracle baby. I cried in the parking lot, scared to death.
Then the waiting began.
Over the course of the next week, I researched and convinced myself back and forth on if he had an MPS disorder or not. One moment, I was convinced he did. The warning signs fit every single one of his quirks to a T. The next minute, I held on hope to the two symptoms he didn't display, chronic ear infections and poor sleep, telling myself that those were enough. He was fine. Perfect. Healthy. My amazing baby. I never thought I would pray for my child to just be autistic, but I did. Autism, instead of scary and awful, now seemed amazing. What I would give for just an autism diagnosis.
But it wasn't to be.
I had waited by the phone every minute since dropping off Little Buddy's sample. Every second. But of course the call came during the five minutes I was outside getting him off the bus on Thursday, March 5. It was actually sunny and beautiful out instead of the ugly, cold grey Texas had been fighting for awhile and instead of his normal routine of telling me how tired he was and demanding a nap, he asked to go out to play. Having just heard the message from the doctor's office telling me to call back, I told him that was fine, as I didn't want to wait to get him down for nap to have to call back. So I called and had to leave a message. And then I held the phone and prayed, all while watching my gorgeous baby play happily in his sandbox. So handsome. So, so happy. So full of smiles. And I knew. I knew then as my perfect boy, who 99% of the time would be passed out napping right now, played in the sun that I was seeing him with my old eyes for the last time. That God was giving me this gift to see him happy and full of life and one final moment before all my dreams came crashing down around me.
And I was right.
It took an hour for the doctor to call me back. To tell me the urine test was positive. That my son had one of these deadly MPS disorders. We were FaceTiming with Daddy at the time, so my husband immediately left work to come home. There is no word strong enough to describe the devastation I felt and continue to feel every day.
The rest of the night passed in fog. I think the kids loved it. There was iPad time and Frozen and whatever they wanted. Daddy and I were too numb to think. I cried and raged on the phone to friends and family and devastated grandparents and godparents. I broke down into the arms of my Texas family who rushed to comfort me.
Our genetics appointment is moved up to March 19th. A positive urine test only tells us that something is wrong in Little Buddy's DNA, the DNA that we gave him. We have to do blood work to determine which type of MPS disorder he has. Once we know that, we'll have more specific information, but not much. The waiting is awful. While we wait, we research. We find out about upcoming clinical trials whose participant pool depends on which type the child has and if the child has regressed. We prepare ourselves for the uncertainty of our financial future and begin to make cuts where we can and research children's disability funding. We reach out to other families suffering from these rare fates to better understand what's happening to us. We evaluate our marriage, praying that we can continue to weather this storm together. We plan for the experiences we want to have with him while he can still walk, and talk, and enjoy it in his beautiful, energetic body.
We steadfastly try to ignore our greatest fear, which is that our Little Sweetie could have inherited this same, terrible fate.
Because when we think about that, our hearts stop and we nearly rip our clothes apart in grief and anguish.
So the waiting continues. We wait for Little Sweetie's urine to be tested (a sample which was ridiculously hard to collect and which will be turned in on March 16). We wait for our first genetics appointment, which will only be a physical exam. Then we wait for insurance approval to actually get our children's blood tested. And then we'll wait for results, we'll wait for that confirmatory diagnosis to tell us of what our specific hell on earth consists.
Right now, we feel like we are floating through existence. We are trying to be present with our little guy as much as possible, to really be in the moment and be as happy as we can with him, because he is happy. In this moment, right now, he is ok. He has no idea his body is working against him. And we try to focus on that. But then sometimes the knowledge comes roaring back into the forefront of our minds, from a picture or a memory or a word, and the grief takes hold again. Panic attacks, inability to sleep, inability to breathe. It's too much to bear, but that's all we can do is make ourselves bear it. Make ourselves get up each morning. Make ourselves live in a world that we're not sure in worth living in anymore. And we pray for hope. For a light in the darkness. Because we need that light if we hope to make it. I need to believe that I was meant to see that Today show article, that we were meant to find out Little Buddy's condition sooner than we should have, because maybe the extra time we have gives us something, even if it's just appreciating every moment more fully.
And we wait.
We love you, Little Buddy. For always and ever. No matter what.
