This is probably the longest post yet because there is so much to say and some of you have not been updated in a while... I apologize if you're a friend and just learning about Skylar through this and not from us personally - we've had a lot on our plate and we've lost track of who knows what. I finally had some time to get her website together so I thought I would update the blog as well to keep everyone on the same page.
Ever since high school, I thought God might give me a special child. It started when I did the "peer mentorship" program where I sat in on a class with 5 severely handicapped children (2 cases of severe cerebral palsy and three other disabling diseases) and assisted the teacher interacting with the kids. It was tough. I remember feeling a tug on my heart and I thought, "Dear God, why are these kids the way they are and how in the world do their parents do it all day, every day?! Please don't let that be me..." Then I went to N. Ireland on a mission trip and there was a child with down syndrome in the mix of kids we worked with. I felt God saying, "Ashley, get ready. That could be your child." Again, my thoughts were, please no - I don't understand. Then in college, I attended a church where a guest speaker had a sermon entitled "The Night Shift," which was based on the speaker's own life of having a severely handicapped child after one healthy child. I don't remember the speaker's name, but the entire message stuck with me, and again, I heard God saying, "Ashley, I am preparing you... get ready."
The sermon in a nutshell was that you get put in situations that you don't want to be in, and no one else would really want them either, which is why he called it the night shift: no one wants it, it's draining, not the normal routine, and you have to adjust or you won't survive. Just last month, I was flipping through my Bible, and out of nowhere, the sermon notes from that message fell out onto my lap. I hadn't seen them since the day I wrote them and wasn't even aware I still had them. I was shocked, but smiled a little bit, "Are you joking me? Thanks God..." Here is a short summary: The night shift = times in life where circumstances we can't control get out of control. It was a typical three point sermon. First you need to calm down - you can't see into the future so don't create anxiety over the "what ifs" and he quoted Phillipians 4:6-7 about praying. Second, you need to wise up. Asking why will get you no where and nobody promised life would be fair so don't go down that road either. If you compare your life to others, you'll always find someone you want to be more like, but that's not your life to live. For whatever reason, God made you unique and gave you the life that you have. Last, you need to press on. Be honest with where you are every second of the day. Pursue your relationship with God and find the joy and humor in life - even through trials.
That is where Kyle and I find ourselves right now; the night shift. Kyle too shared with me later that he felt like he was going to have a special child as well, but we had never shared that with each other until we found out about Skylar.
At Skylar's one month check up, she had low muscle tone and was really low for her weight percentile. I pointed out to her doctor that Skylar's right arm looked like a chicken wing - it was always bent at the elbow and wrist (we called it her lucky fin and she was our little nemo). Our pediatrician sent us to a brachial plexus specialist thinking it might have been a shoulder injury during birth so we went to see the doctor on the 8th of January. It was a snow day and we braved our way to Children's hospital to see the physical therapist and doctor. The PT evaluated Skylar and said both of her arms were affected in different ways. The doctor came in later and noticed that all limbs were affected because he couldn't get a reflex out of her knees. When I saw that, I knew we were in trouble. As I was leaving the office, I noticed him watching me from down the hall as I carried Skylar out of the room. The hall was dark and I couldn't see his face extremely well because I just glanced at him, but I just got this overwhelming feeling of pity - as if he knew something horrible and felt so sorry for me. It was extremely unsettling and I just wanted to scream, "what are you not telling me?!" He wanted to send us to see a neurologist and since we had a newborn, he made some phone calls so we didn't have to wait 3 months to get in. The neurologist's office was going to call me to schedule the appointment.
After I left, within an hour, I got a phone call from Skylar's pediatrician. He said that if they couldn't get me in within two weeks to see the neurologist, then to let him know and he would make some calls. This was very alarming to me because I didn't think it could be that serious (I was thinking some physical therapy, or at worse, surgery would do the trick). I asked him what the problem was and why the neurologist. He said that he is pretty sure Skylar has some sort of neurological muscular disease or disorder and is "extremely concerned." Shocked, I asked if there was a possibility that she could be normal and it could just be that my breast milk wasn't doing the trick or something else not so bad. He said he doubted it, but didn't want to scare me with some of the possibilities, so we would just wait for the neurologist's appointment.
When I got the call that our appointment was scheduled for Jan. 22, I called my pediatrician to let him know and he said that he would give me his cell phone and would be available all weekend if my husband and I needed him. He even said that he would keep Saturday open if we needed to meet with him and talk. In my head I am thinking, "Holy crap! What the hell is going to be wrong with my baby?!" Scared, I asked what the worst case scenario was, but I still didn't know how horrible it could be. With hesitation, he listed one disorder and then listed a few others that I had never heard of. I asked if any could be cured through surgery or treatments or medication and he said no. He said he was praying with all of his heart that our daughter didn't have any of these. He gave me his cell phone number and said if I made the really bad decision to google any of them, he would be available to answer my questions. I googled them so I would at least know what we were up against, and I was terrified. I had no idea some of these disorders even existed and they were just horrible, enough to make you sick. I couldn't eat for two days, but forced myself to at least drink protein smoothies since I was breastfeeding and Skylar needed me to eat. SMA was among the top of the list, which stands for Spinal Muscular Atrophy. It is the number one genetic cause of death in infants before the age of two. I was thinking, and sadly hoping, it could be cerebral palsy and was prepared to go for stem cell transplants in Germany, a life time of physical therapy, etc. but was reminded of SMA after stumbling on a website dedicated to a girl named Skylar who had SMA type 2 and died after 7 or 8 years. A week later, after trying to hold it together, but really being an emotional wreck, we had Skylar's 2 month appointment.... The pediatrician was extremely concerned, because he felt like her muscle tone has gotten worse and said he thought it was SMA (which was the worst case scenario) and said that SMA was the first thing out of the brachial plexus specialists' mouth as well. Of course I cried, he teared up a little, and asked to pray with me. He even said he was thinking about taking Friday off to come to the neurologist with us, but wasn't sure it was possible. At our neurologist visit, our worst fears were confirmed when the doctor said he too was pretty sure it was SMA, but a genetic blood test would tell for sure. It would take 3-4 weeks for the blood test to come back...
In the meantime, we prepared for the worst and went ahead and made an appointment with the pulmonologist to establish a baseline for Skylar's lungs since SMA affects all voluntary muscles, breathing and swallowing muscles included, which is typically the cause of death (choking, pneumonia from aspiration, lung collapse, or a respiratory infection). The first bit of good news we received: Skylar's lungs were clear and looked good thus far. We also did a swallow study which showed Skylar aspirated slightly on thin fluid from a bottle, but seemed fine breast feeding. Aspiration is a huge concern because the muscles just get weaker so more and more fluid could end up in the lungs, which could be fatal.
Four weeks later, I get the call. Skylar does in fact have SMA type 1. According to statistics, she has a 10% chance of making it to her first birthday. And if so, it's even less likely that she'll see her second. SMA is caused by a missing or defective gene that is responsible for producing a specific protein that voluntary muscles use to grow. There is no cure and very little treatment currently. Because this is genetic, every child Kyle and I might have after this would have a 25% chance of having SMA, 50% chance of being a carrier, and 25% chance that the child would be unaffected. Obviously, we have some tough decisions to make as far as family planning goes, but even more tough decisions in the near future with Skylar. We've been asked to think about whether or not we would put her on life support, which no parent ever wants to be faced with that decision.
Just last week, we had an appointment with the GI doctor because Skylar started choking while breast feeding and we were looking into the option of having a feeding tube put in. The GI doctor agreed with us and said the sooner the better. She also is struggling to gain weight - one, because her muscles aren't growing due to the lack of SMN Protein so she has no muscle mass, but two, because her little muscles have to work twice as hard for normal functions and she burns through calories and isn't getting enough to gain weight. We were at Children's hospital 3 days later to get Skylar on a feeding tube through her nose to try and fatten her up a little before the surgery.
The problem with SMA is that it affects so much of the body, we have several specialists working with us instead of just one doctor. The real problem is that it is a rare disorder and not many doctors are familiar with SMA and the best "treatments" since there is no cure. Luckily, our pediatrician has been fabulous and seems to know a lot more about SMA than most. Also, our neurologist has had first hand experience with the disease - a family member of his had a child with SMA type 1. Our pediatrician mentioned some options to me that I brought up with the GI doctor while we were in the hospital the morning she was supposed to get her surgery. He seemed a little puzzled with the suggestion, and hours before she was supposed to get her IV to get ready for the G-tube placement, the GI doctor came in a told us he had a change of plans. Apparently he had talked to several other doctors about SMA and the best options for treatment during the day and heard about another SMA child in the same hospital who already had a g-tube placed, and was now getting treated for reflux. Our GI doctor knew the feeding and swallowing was a problem, but he wasn't aware how severe the reflux could be. So instead of getting the g-tube and then having another procedure a few weeks later (like the child was having to do), he said that he wanted to postpone the surgery for 3 weeks or so and do everything at once. We're continuing to pray for wisdom for each of her doctors to do the best thing and to have the most current knowledge of procedures and treatments.
SMA children suffer from reflux because of their weak muscle tone so we're going to get a procedure done called a fundoplication (Skylar is too small for a J-tube). A fundo is where they wrap the top of the stomach around the base of the esophagus so when it contracts to cause reflux, it closes of the esophagus instead or allowing things to come up. This is much more invasive and very intense for a small 4 month old baby, but we're optimistic and hope it will help her feel better and get her nutrients. Currently, she is still on the nose feeding tube at home and I am learning how to become a nurse :) I have mastered the feeding machine, use a suction machine to take care of the mucous she can't swallow, and also give her treatments through a nebulizer to help her lungs. We're also awaiting a c-pap machine delivery because she needs a little help getting some oxygen at night while she sleeps according to the results of her sleep study we just completed. It just adds pressure to her breaths to help her lungs open better - it's not like a ventilator or anything that breathes for her. Our nursery is starting to look like a medical room, but I would much rather have that than no reason for a nursery at all.
I am still hoping for and believing in a miracle. Her range of motion has gotten better, even though her muscles aren't gaining mass. She loves the bath tub and finds the water is a great place to move like a normal baby since her limbs are weightless. She smiles big and attempts to make little noises here and there. I hope that one day, Skylar will be able to grab for a toy she seems to stare at so intently. I hope that she'll be able to hold her head up, sit up on her own, talk and breathe easily, enjoy the taste of food, and eventually learn to crawl and walk. I pray that God would reach His hand down and replace the gene that is missing in her body or that the SMN protein that her muscles need to grow would be produced in her body. Of course, if God chooses not to heal her, I pray for strength and peace for Kyle and I to go forward and that God would be close to both of us as we draw near to Him and each other.
Skylar squealed with joy for the first time ever almost two weeks ago when I pulled her hands up and let them run down through my hair. I realized that babies typically pull on things like hair and jewelry and since Skylar can't, I thought she might like to try with my help... It melted my heart and made me cry with joy. Playing with my hair makes her smile every time... at least for now :) She's starting to giggle too, which is the sweetest sound I've ever heard. I ask God for more moments like this to help us get through the tough times.
We're supposed to be feeding her through the ng tube every 2.5 hours with 2.5 ounces. We just stepped it up to 3 ounces every three hours to try and keep our sanity. I've already missed two of her middle of the night feeds, but she slept through them too so I didn't feel too bad about it. We had a pretty rough scare the other night and we thought we might lose her.
I was supposed to be sleeping, but I couldn't, and Kyle had just finished a feed and was trying to get Skylar to sleep in her crib. She always has trouble breathing, but she was making unusual noises as her breathing pattern became concerning. It seemed as if she was really struggling so I got up and went in there and Kyle wasn't sure what to do. He said he didn't see her nostrils flaring badly (a sign we were told to look for) and I picked her up and unbuttoned her pjs to take a look at her ribs. The skin over her ribs was clinging slightly with her breaths, but not badly (another sign we were told to watch for). I just held her, rubbed her belly, told her to take deep breaths, and then just cried my eyes out. I am not ready to lose my little girl. I know that God loves her more than I do, and we trust Him, but it doesn't make it any less painful.
Thank you to all who have prayed for Skylar and for us thus far. We definitely feel the grace of God and are surrounded with peace through this tough time. I think it's fitting that it's the season of lent right now and we are definitely suffering (besides giving up stuff on our own). I look forward to Easter, to spring time, and a hope of all things made new and a cause for celebration. Our family has been extremely supportive and helpful and we are extremely thankful to have our parents close by. Friends and church family have been amazing as well - thank you for prayer, listening to my ramblings, meals and your support. Some of Kyle's friends are fasting every Monday, the moms group at church meets every other Thursday for prayer, and we've received cards/emails from classes, small groups, and from people all over who have heard about our struggle. My friend is already working on raising money to donate to Families of SMA and I even ran a 5k at 8 AM to help the cause. Go ahead, you can laugh. I haven't run a 5k since high school and I certainly haven't done anything active for years - needless to say, my body felt like it got ran over and beat up and I slept like a bear in the winter. Back to the point, to all of you who have helped and prayed - Thank You. We are very grateful and so humbled.
Sorry this one was so long - I am going to make sure I update this more frequently now that we've told everyone about Skylar and have a lot coming up to prevent further novels on the blog. Her 4 month check up is this week along with another GI appointment to track her progress. We'll have another pulmonologist and neurologist appointment to touch base with everyone before the surgery. Her pre-op will be late next week and surgery will be scheduled after that (I am guessing the following week if all goes well).
Hope you like the new website at www.skylarmariejones.com - I thought it would make it easier for everyone to find and check the blog whenever. Thanks for making it this far. I hope this post finds you healthy and happy. Talk to you soon. Peace.