We adjusted to our new bundle of joy fairly quickly. We took him to his check ups and got his newborn screening test done. He was growing well and nothing came up. I started to notice that Wade would not lift his head during tummy time. I tried toys, noises, music, anything and everything to get him to lift his head, but he would just cry. At his two month check up, he had almost doubled his birth weight already but I told the doctor my concerns. His pediatrician said some babies take a little more time, so just increase tummy time and keep trying.
For two months, we kept putting Wade on his belly, but he would not lift his head. We also noticed he couldn't bear any weight on his legs and he wasn't moving very much. He couldn't hold toys, he didn't try to reach for them and he barely moved his legs. He also stopped taking bottles and wasn't gaining as much weight. At his four month check up, I expressed my concerns again to the doctor. He said that Wade had hypotonia, meaning low muscle tone, but that he would most likely grow out of it.
I took Wade home and researched as much as I could about hyopotonia. I found that it is usually a symptom of something bigger and that is when I first learned about Spinal Muscular Atrophy (SMA). I read that it was a genetic disorder that causes severe weakness from the SMN gene being deleted. Babies under the age of 6 months with SMA are considered type 1. They would never sit on their own, crawl, walk and probably would not talk very much. I read that 95% of babies do not live to see their second birthday. I did not want to believe that his was what my son had, but when I saw pictures of SMA babies' bell shaped bodies, and that some signs were holding their arms bent with their palms facing out, and reading decreased movement in the last month of pregnancy, I knew this was what Wade had.
I made an appointment just a few days after his 4 month check up with the pediatrician. My mom went with me and we told the doctor we thought Wade had SMA. He didn't think so and said again he thought it was just hypotonia. I requested a physical therapist evaluation. He agreed and made a referral.
I got a phone call saying their was an appointment the following day for an evaluation or their next opening would be three months away. So we took the appointment and went the next day. The physical therapist moved Wade in a bunch of directions and asked us several questions. At the end of our appointment, she said Wade was severely hypotonic and we needed to take him to a pediatric neurologist.
The next available appointment with the neurologist was almost two weeks away. We had been planning our first family vacation to San Diego and decided we should go before we got a diagnosis. We had so much fun taking the boys to the beach and around San Diego. We got home and went to the neurologist the next day. She checked Wade out and agreed with the physical therapist that it was more than just hypotonia. I asked if there was a possibility Wade had SMA and she said yes. She then told us that we obliviously had done our research and if he had SMA, there was nothing she could do for us. She ordered a genetic blood test.
During the weeks of waiting, we would take Wade up to the altar at church to pray for him. Our pastor and his wife were the only ones that really knew what was going on. They would come up with us to pray for Wade. One Sunday, while Wade and I were at the altar, I looked up to see what seemed like half of the church around us praying for Wade. They didn't really know what was happening, but they supported us and prayed for Wade. No one planned this, everyone just felt led to show us love and support. It was very touching and it showed me they would always be there for us.
Over the next month and a half, we fought with the lab and our insurance to get the blood test done, but it just wasn't working. The neurologist called and said she would like another neurologist to do an EMG test. It would consist of electrodes and needles measuring Wade's muscle response. We agreed and got the test done the next day. After the test was complete, he looked at us and said, "the test confirms what the other neurologist assumed." I said, "so he has SMA?" He told us yes and walked out the room. We were crushed. Yes, we had been assuming it for over two months, but it was very different officially getting the diagnosis.
We still wanted the blood test done to see how many copies of SMN 2, a copy cat gene of SMN, Wade has to see if he was eligible for trials. My mom called a children's hospital in Seattle to see if they could help and they gave us the number to a geneticist counselor at the Phoenix Children's hospital. The counselor helped us so much and was able to get the SMA blood test order through our pediatrician. We got Wade's blood drawn and three days later we were told that Wade did in fact have SMA and had 2 copies of SMN2. Having only two copies means Wade has type 1.
We had contacted a family through facebook who has a little girl with SMA, just a few months older than Wade. She was so kind and got us in contact with an adult who also has SMA that makes blankets for newly diagnosed families. We also talked with her through facebook and she gave us so much hope for Wade that the doctors never gave us. She then got us in contact with families in Phoenix, including the president of the Arizona SMA Chapter. We live about 2 hours from Phoenix, but it was nice to know families in the same state that were facing what we did. We were put in contact with a very nice lady who lives very close with us who had a girl with SMA who lived to be 13. Everyone was so kind and helped us in so many ways. They helped us get started with different programs that would give Wade services that he needed, They also helped us get an appointment with a wonderful pulmonologist.
It was so scary and so terribly sad getting this diagnosis for our son. But the SMA community is amazing. We do not feel alone, but apart of a family. We all hate that we have to meet under these circumstances, but it is so nice to have people going through similar circumstances that we can turn to if we need anything. It would be so very difficult to go through this without them.
Our family, friends and church family have all been amazing to us as well. They have all done so much for us from bringing us dinners, donating snacks, money, even a van, visiting with us, being there for us if we need anything, and most importantly praying for us. We could not get through this without knowing Wade is in God's hands. We can take all of our worries, troubles, and fears to Him. We thank everyone that has taken the time to pray for our son.
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