I always knew that I had a greater purpose in life. I always knew I wanted to make a difference. I always knew I had a lot more to learn, see, overcome. What I didn’t know, is that my children would be the path to finding my way despite the many forks in the road. What I didn’t know is how much I would truly learn from my them.
On October 4, we were told that genetics wanted to have a meeting with us at noon. They provided childcare for Blake and had someone to stay with Nash so Bobby and I could sit in a room with our care team from Cincinnati Children’s Hospital. In the room, was the Geneticist, his fellow, the attending physician in the PICU, the PICU fellow, a social worker, nurse and the 2 of us.
We sat down, and exchanged a few jokes before we got to business. The geneticist started off the meeting saying, “I have never seen this before.” I was CERTAIN that it was Mitochondrial in nature, so before he could say anything I cut him off, and asked, “MNGIE (Mitochondrial Neuro- Gastrointestinal Encephalopathy)?” Something I had been suspicious of based on Nash’s presentation of failure to thrive and other signs he had shown. His response, was “no.” It felt like a year went by, to finally hear him say,
“SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1.”
Shot in the heart by the words I thought I could never handle. Bobby grabbed my hand, and Dr. Kaplan (the PICU attending who I ABSOLUTELY ADORE) jumped out of
her seat to sit next to me, hold my hand, rub my back and cried with Bobby and myself. I asked how could it be possible? I have had every genetic panel under the sun, which includes SMA? Well, we quickly found out that Nash does not have SMA.
He proceeded to explain to us, that after looking at Nash’s blood and comparing it to mine and Bobby’s blood, that we all have a mutation on our IGHMBP2 gene. Statistically, we are 500 times more likely to win the lottery than to meet someone with this mutation, marry that person and have a child with them. Who would have thought that you would be so incompatible with the person that you are most compatible with? We have been together since we were 14- is this what brought us together? Logially- NO, but what the hell?!
He then explained to us that this version of SMA is MUCH different than the other traditional kind of SMA, and that the progression of the disease happens up until the child is 2 years old. After that, there is a plateau, or an improvement in the disease thereafter. That being said, Nash will likely never be “normal” in comparison to his peers. To date, there are only 100 cases of this in medical literature making this one of the more rare diseases in the world. Ironically, the same day we received the diagnosis, another family heard the same words earlier THAT DAY!
Life interrupted, but beautifully. Here I am embracing the diagnosis I never thought I could handle. Believe it or not, that was the only time I have cried since hearing the diagnosis. It’s funny how much control you can have over your life, but the things that are most important and special to you allow you become vulnerable to being out of control. Another important lesson learned.
Now, as far as Nash goes, here is what we have learned, here is our plan and here is the prognosis. Most importantly, don’t google the disease, because the literature is SO outdated, and inaccurate.
We have learned A LOT about this disease, thank goodness for Facebook. Obviously, the first thing I did was find a SMARD1 Facebook group to understand what this VERY SMALL patient population looks like. What I have learned, is that there is a MAJOR spectrum. There are 2 things that remain relatively consistent- wheelchairs, tracheostomies, cognitive ability and A LOT of REALLY HAPPY HAPPY KIDS AND FAMILIES. There are some things that remain inconsistent- physical ability and the road ahead.
Nash has already made new friends through this group, in fact, we got the chance to FaceTime with his 7 year old buddy, Nate! Nate talked to us about his tracheostomy, about school with his friends, being in class with his cousin, and what he likes and dislikes about having SMARD. He told me “it kinda stinks that I can’t walk sometimes.” But then he proceeded to tell me that all of his friends aren’t allowed to run around on the blacktop at recess, but he could drive as fast as he wanted! Love it. His mom, Annie Green, asked him an awesome question, which was, “If you could describe yourself in one word, what would it be?” And Nate’s response was “happy.” Nash smiled belligerently at the phone talking to Nate the entire time. Their story is almost identical to ours, and to see their outcome has been really reassuring- obviously we can’t predict the future but Nash’s future looks pretty bright if it is anything like Nate’s!
Our plan is to take each day as it comes. Nash has been a bit of what the doctors like to call a “medical conundrum” in his presentation and seems to be defying a lot of odds. Many kiddos require tracheostomies prior to diagnosis because of respiratory failure. Nash has managed to maintain his respiratory status despite his left diaphragm now failing (his first one failed back in June- which is when we had the plication). A lot of children tend to lose function of their distal muscles prior to diagnosis as well. Nash has a foot drop, but does have full function of his legs and hands at this point in time. Many can’t extubate after having procedures, and Nash has managed to do that 6 times. Many can’t fight simple respiratory infections - Nash was able to pull through septic pneumonia with a collapsed lung and rhino enterorvirus.
In the meantime, the fear of the unknown of what lies ahead leaves us with an important decision to make- WHEN will Nash get his tracheostomy? Of course we want to believe that he will be the exception to SMARD1 (especially because there is such limited information out there). Right now, he certainly does not require it (as you can see from his oxygen free pictures), but because it is such a progressive neuromuscular disease, we want the procedure to be performed while Nash is at his strongest to preserve his strength that he does have. He is also on nocturnal ventilation, called Bi-Pap with a Full Face Mask.
Moving forward, Bobby (my husband) and I remain DESPERATELY committed to research and a cure. We have been working with a number of families in our support group to help facilitate research and funding. We have solidified an institution- Nationwide Children's Hospital- to facilitate the research in gene therapy, which has proven promising results in mouse models. Gene therapy has proven to be successful by injecting a virus into these mice, called AAV9 vector. They inject a healthy copy of the gene attached to the common cold virus, Historically (and I am talking recent history), gene therapy has only been FDA approved for 2 diseases, which makes me really nervous but excited at the same time. I will be committing most of my time and energy to raising money to facilitate progress so that Nash can live life to his maximum potential. I have included links to the studies and other information about the disease below.
Right now, we don’t have a clear picture as to what we can expect because Nash’s presentation is a bit out of the ordinary. What I can continue to hope for is that this sweet baby remains happy, with a permanent smile on his face. We are devastated by the diagnosis, but so thankful that we have one. In the meantime, we are praying to raise as much money as humanly possible to help with finding a cure. One of the aspects of research that I think is important is that this disease is entirely underdiagnosed, and that many babies who die of SIDS are in fact dying of this disease. Because they are so young, and genetics are not tested in an autopsy, the affected population remains underreported because they are passing prior to diagnosis. As a result, I would like to push (if possible) for this to be a part of prenatal genetic screening and for genetics to be a part of an autopsy which will come with finding a cure.
The past 18 months have been exhausting, amazing, heartbreaking, reassuring, high and low. My life has certainly been put into perspective and I feel like I am finally going to have the chance to fulfill my purpose that I always knew I had. Everyone keeps asking me how I am holding it together, and the answer is because I have 2 beautiful children to live for- what is my other option? Sit and cry about Nash’s disease while he smiles himself to sleep? HELL NO, I will not allow his disease to destroy me, him, Blake or Bobby and will continue to spend my energy keeping Nash and our family positive while getting him the best care possible. I will never ask myself, “why us” because quite honestly I know the answer- that we were picked to be his family. I do not want pity and sorrow, but encouragement and positivity. With our family, friends and support group we do know that Nash will continue to live the best life possible!