The rest of the story and our new reality
Let us then approach God’s throne of grace with confidence, so that we may receive mercy and find grace to help us in our time of need. Hebrews 4:16
God is our refuge and strength, an ever-present help in trouble. Therefore we will not fear, though the earth give way and the mountains fall into the heart of the sea, Ps. 46:1-2
Emmaus is a name I have loved for a couple years now. We studied the passage in church one night and I just thought it was pretty. I used to refer to our unborn/unconceived daughter as Emmaus. Dan hated the name at first but then when we actually found out we were having a girl he wanted to name her Emmaus. I threw out other names and we seriously considered one other, but it was always Emmaus.
As time went on the passage began to mean more to us than just being a pretty name. In the story Jesus is walking with a group of believers after the resurrection, but they cannot recognize it is him. They feel a burning within their hearts but do not realize it is him until much later. We find this significant to our lives in several ways. First Dan and I have both gone through times where we didn’t necessarily know Jesus was walking with us, but when we look back it is obvious he was all over the situation. Secondly we pray that our daughter would feel that same burning in her heart and learn to know Jesus in her walk through life.
On May 18th I woke up when Dan was leaving for the day. I lay in bed for a while and became concerned because I wasn’t feeling her move. She was most active in the mornings. I called my midwife and went in to see her. She did an ultrasound and agreed that the baby wasn’t moving much. She was making fine movements (fingers, toes, ect) but no major movements so she sent me on to see the perinatologist group she refers patient’s to- if you have a midwife and have complications you go to a specialist to deliver generally. Anyway, later that afternoon I got in to see Dr. Wickstrom for a biophysical profile. Since Dan was at work my friend Emily went with me. I was thinking, “worse case scenario baby comes today”. I was almost 34weeks pregnant so I knew she would be little and spend time in the NICU but that she would be okay. Well the ultrasound lady scanned me for a long time. Baby passed her biophysical profile no problem. I felt extremely relieved. The ultrasound lady said Dr. Wickstrom would come in and scan me as well and she left and was gone for a while. When Dr. Wickstrom came in the room the mood immediately shifted. She sat down and said “The biophysical profile looks great, but we saw something wrong in your daughters heart” She preceded to tell me that Emmaus had multiple tumors growing in the ventricles of her heart but that they are benign. They are called cardiac rhabdomyomas. I think all I got out was “okay”. She let me know that she had spoken to Cathy Gordon my midwife and that because of the tumors I would need to transfer my care to the obstetrix medical group (the perinatology group that she worked with through st. luke’s) because I would not be a candidate to deliver at a birth center and we would have to very closely monitor the tumor growth over the next few weeks.
I kept my calm until I got into the car-I felt bad that my friend was with me and not Dan- I just never thought we would get news like this. When I was alone and on my way home I called Dan and through broken cries told him what she said. He was almost home too and I waited to start researching these tumors until he got home. Well the research made things worse. It turns out that Benign Rhabdomyomas are very highly associated with a disease called Tuberous Sclerosis Syndrome (TSC). This disease is found in 80% of the cases of fetal rhabdomyomas. TSC is a disease in which the tumor suppressor gene doesn’t work. It is generally is genetic- (Dan or I are probably a carrier for the disease) although it does randomly occur sometimes. The next few weeks were filled with Drs appointments for me (weekly biophysical profiles, non-stress tests, and office visits) and then a consult with Children’s Mercy Cardiology to do a fetal echo for her. An amniocentesis could be done to check for TSC, however it took 12weeks to get the results. Since I was already 34weeks pregnant it was pointless to test this way. TSC has several skin markings associated with it and you only need two major criteria to diagnosis the disease positively, then blood tests are available as well. The plan became to have her at St.Luke’s on the plaza and transfer her immediately after birth to CMH if necessary. After we met with the CMH cardiologist he was pretty certain no NICU stay would be necessary because the tumors were not impeding blood flow. Huge relief since if blood flow were being blocked she would need emergency surgery. As time went on we began to feel more comfortable with the diagnosis and possible TSC. We have great support from family and friends and knew that although this is not what we wanted for our daughter’s life or for ours- this is the specific baby that God trusted us with. We started praying for God to bless us with a baby before we conceived her. We prayed specifically for the child that God would give us and that child was her. We prayed for her while she was in utero, for the person she would become and the plans God would have for her. So even through this time of waiting for her to get here, waiting to see what would happen we knew without a doubt that “Jesus was with us” and that he would not give us more than we can handle. And most importantly that Emmaus was the child he gave to us to parent…with our without TSC.
When she was born she looked perfect. Perfect color, perfect circulation, they did an echo that looked the same as in utero. Her EKG was funky, but that was expected due to the tumors in her ventricles, but her heart rhythm was fine. However, she did have one of the skin lesions on her arm that is typical of TSC. As soon as I saw it I new she had TSC..Dan did too. Everyone else tried to remain very optimistic, however, we knew. Our pediatrician confirmed at our appointment giving us a verbal diagnosis. (we will do blood work this week)
TSC can vary extremely widely. Really Dan or I could HAVE the disease and never have any idea because it is such a mild form. It varies from having a few skin markings/ the rhabdomyomas and functioning extremely well to having lots of tumor growth especially in the brain and kidneys. Often resulting in multiple surgeries, seizures, autism, kidney problems, ect.
We obviously have a range of emotions about the diagnosis. Mainly we are just trying to trust that God will equip us with the strength necessary to face whatever comes our way. We are being followed closely by CMH cardiology to watch for growth of the rhabdomyomas (They generally shrink over time and become a non-issue). We also will be followed by CMH genetics- they have a regimented plan on how to follow these kids and a timeline of tests, ect. However, currently there is a 6-9month waiting period to get in to see them. (Any CMH people have any strings to pull with genetics clinic??)
I think as a nurse at mercy working with kids with seizure disorders/syndromes that cause them, I often let myself go to the worse case scenario. It is something I have to be very careful of. Dan will say something like “Just think so soon she will be calling you mommy” and I think “I hope she can call me mommy ”. I have had to work very hard not to live in a place of fear, but to live in a place of joy and hope. To be thankful for the tremendous blessing we have and not think “why us?”
I am so thankful that we found out about all of this while was still pregnant. It gave me times to work on the fear issue. We are not supposed to live in fear. It is still something I have to face everyday, and decide to walk away from instead of wallow in. I share all of this on my blog not because we want pity, but because it is the truth. It is our reality. It is our story. And because it’s kind of therapeutic.