Looks Like We Made It!

One year! 365 full days of smiles, giggles, tears, worries, and hugs from our Keller Grant! He has not ceased to amaze us at every turn! 

He has had a few appointments lately and I wanted to get everyone updated on his most current information.  At the end of April we got an email from our contact with the genetic study at Duke. She is a genetic counselor and said that "they" had found a possible explanation for Keller's medical difficulties.  On May 12th we (Phillip and I) met with a group in Durham to discuss the findings.  The group included a pediatric cardiologist, our counselor, the technician that found the genetic variation and another lady that had an understanding of the lab side and could explain things to us a little.  While they found a few variations in his DNA they feel that the one they found on chromosome 7-DNAH11 is the one that makes the most sense for his Heterotaxy.  Phillip and I are both carriers for this variation, Norah is a carrier, and Keller was affected. Because of the variation being on DNAH11 they wanted us to talk to Chapel Hill regarding a possible diagnosis of Primary Ciliary Dyskinesia or PCD. This is something that affects the motile cilia in a persons body. 

Cilia are swiffer-like tiny fingers that sweep out the "bad-stuff."  People with PCD usually have a persistent cough, ear infections, and colds that hang on noticeable in the first few years of life.  Kids with PCD are not usually diagnosed from a pediatrician for a few years. Keller has had a normal amount of colds that have lasted an appropriate amount of time and only one ear infection in his first year.  I have talked to the nurse at Chapel Hill, I sent her the information we received and she will review Keller's case and if he even qualifies for their PCD study we will be put on their waiting list.  Should he eventually be diagnosed with PCD it wouldn't change much in our daily life, I believe, obviously that is not something I know for sure.  Should he be diagnosed with PCD it could affect a few things surrounding invasive procedures and surgeries. There are some more aspects of PCD that can affect patients in adult life but right now there is no need to worry about that.  We will hear back from Chapel Hill in a month or more and then we will proceed however necessary. 

The next week Keller had a follow up appointment for his g-tube.  Everything there looks good, we actually changed brands of tube but no big news there.  The following day he had an appointment at Vidant for a sedated echo of his heart.  He had developed a cold over the weekend and we had seen his pediatrician 2 times and then I spent much of Monday trying to get word to the cardiologist to warn him of Keller's snottiness.  We knew they would not want to sedate him and we were right.  The sedation doctor was quick to say "We aren't going to be doing this today." They did let us wait for the cardiologist and when he got there he got details about the cold and said "Let's try it with him awake." We were shocked but thankful.  In this wing of the children's hospital they have TVs on the ceilings, lots of toys to distract, lights that change colors in the rooms, and iPads.  Dr. Hartman said they didn't have distractions like that at his office so we might as well see how far we could get.  We proceeded knowing there could be a need to reschedule.  The distractions worked and the doctor got all of the images he needed. Keller's mitral valve leakage has gotten better though it is still mild-moderate.  He was weaned from his lasix, which is pretty awesome.  The possibility of surgery "at school-age is less likely." We don't know yet what will happen in the future with Keller's heart, a future surgery may still be necessary but we are looking at years away right now. 

The biggest most obvious sign that Keller isn't "normal" right now is his feeding tube.  We are still working on ways to get him to feel hungry and be interested in yummy things.  So far we have not made huge strides but we might be making baby steps. I am so thankful for his therapist that is willing to trouble-shoot these things with me. 

Our little guy turning one has been a big deal for me (Alli, here). I think mostly because this year has been long, short, exhausting, rewarding, draining, and generally a blur. I cannot believe he is one but when I look at pictures from his birth and time in the NICU it seems like ages ago.  I told Phillip that if I could have known how well he is doing at one I think I could have enjoyed his earlier months. The weight of the unknown took a toll on us all.  This year has tried me like no other.  

I have grown in my faith but also had a few crises of faith, which is abnormal for me.  (My one previous crisis of faith happened at age 16 and lasted a few days).  This year has made me more bold, more outgoing, more open to others, and more transparent but it has left it's scars too.  We have been forever changed by this journey we are on and the people we have met in person and virtually as well.  Phillip and I are so blessed by these busy little people in our lives.  I don't know how many people "out there" have actually met, seen, or been able to hold Keller in their arms but across the board people are changed by him.  People are able to palpably feel God's promise on him and see it in him.  I get told frequently that he is a miracle.  And he is.  He's our miracle.  We couldn't have made it without our support team, our prayer teams, those who loved on us with gifts of food and funds.  I am forever thankful for his Pediatrician that has fielded countless phone calls, questions, and visits. His cardiologist has been so attentive and caring I really feel like Keller has gotten the same care that he would give his own children. So so so thankful. 

I wanted to put together a slideshow of his first year, mostly for me but I also planned on sharing it here.  It made me cry seeing it all come together with the songs I had in mind.  I'm so glad Matt Hammit could put my feelings into words.  The second song is from JJ Heller and is the lullaby that I have sung to Keller many times over.