It seems impossible that we are sitting here typing this entry. But, we are and want everyone to know what is going on with our family so that all of you can stay connected with us in a time when we are not sure what the next few days may bring. We know you all care and your prayers are much needed.
Over the past several weeks, we have become increasingly more concerned about our baby boy. He was born early at 34 weeks, but sailed his way out of the NICU in 9 days and continued to grow and thrive at home for the first several weeks. We were VERY happy.
As Ryan grew a bit older and we started expecting him to begin meeting some of the basic milestones * holding his head up* and also started noticing he didn't move as much as usual babies, we also noticed that he had been breathing heavily for quite some time. The symptoms we were noticing seemed gradual and at one point we even questioned when they started?
We first turned to our cardiologist for reassurance since Ryan was born with an ASD and we wanted to be sure that his heart was not comprimising his body from working properly. From a cardiac standpoint, we were given reassuring news and told that his cardiac defect had not changed, but it was likely to resolve on it's own. This was just prior to his 2 month birthday. The Dr. also noticed that Ryan did have labored breathing, but thought he had a condition called laryngo-tracheal malacia, aka floppy airway, but that he would grow out of this condition between 6-8 months of age.
The following week, we saw his pediatrician for his 2 month check-up, discussed our concerns about his lack of movment/poor tone and discussed the cardiac findings and the probable diagnosis of larygo-tracheal malacia. At that time, we were also concerned that Ryan's feeding habits were changing... not eating as much, taking a long time to eat. At that visit, we were reassured that Ryan's difficulties could be related to his prematurity and we would reevaluate him in 1 month.
A couple of weeks went by and we realized that he was not improving despite our efforts to stimulate him more and work with him more. His feeding habits were worsening, going from taking 5 ounces, to 4, to 3 without much explanation why. We honestly thought that again, because he was breathing so hard he was just wiped out and couldn't do much else. We clearly knew that his breathing was abnormal and scheduled a visit with the pediatrician again.
When she saw him this time she agreed with our concerns. We explained that he had deteriorated more and we were told we needed to see a neurologist and to start physical therapy and probably have a brain MRI done. We scheduled a visit with the same neurologist as Charlotte has since he knew our history, but he was out of town last week and we couldn't get an appointment until 5/5.
The week went on and over the weekend, Ryan became weaker and weaker, only able to eat 1-2 ounces at a time... He was tired a lot and breathing very rapid all of the time. On Monday, I knew we couldn't wait for the neurologists appointment the following day. He needed help now. We called our pediatrician to tell her that he needed help and that we were taking him to the ER. We debated on where to take him, Children's Mercy or St. John's but ultimately chose St. John's because that is where the neurologist was.
Our trip there was full of hope, hope that we would recieve the help we needed and help calm our frears. From the moment we arrived, we were given the attention and care that Ryan needed. We were quickly told that he would be admitted to the Peds ICU and that they were very concerned about his breathing.
Immediately, blood tests began and tests were done trying to determine why Ryan was struggling so much. Dr. Mantovani, the neurologist was consulted right away and saw us first thing in the morning on Tues. 5/5. Some things were ruled out fairly quickly, and after assesing Ryan, Dr. Mantovani told us that he needed more tests to help him give us a diagnosis. He felt that the problem lie in Ryan's neuro-muscular system and that Ryan's weakness was very serious. His gag reflex was poor and his suck was also very poor. They did a test that evening called an EMG, where they attatched small electrodes to Ryan's muscles and a tiny needle was inserted into the muscle to measure the activity with stimulation. This would help tell the Dr. where the neuro-muscular dysfunction was in the pathway from the muscle to the brain. He was present with the test and came to give us results immediately following.
The news were were given was not good. There was hope in the beginning that this may be something treatable, but the test confirmed that it is not likely. Dr. Mantovani explained that Ryan's dysfunction lies in the part of the pathway where the nerves connect to the spinal cord. The disease that he may have is likely related to some genetic component. At first it was thought it was completely different than what Charlotte has, but after doing research last night, Dr. Mantovani has decided it is more likely that he has the same genetic disorder as she, just presenting in a much more serious way. Even if he has a different genetic disorder that has caused his illness, the prognosis for our son in not good.
At the present time, we are trying to support him with oxygen and he is not on any medications. He heart has become enlarged since our initial visit to the cardiologist due to his breathing efforts. We have also noticed that his blood pressures, like Charlotte's, have been slightly elevated. Currently, Dr. Mantovani is in touch with Charlotte's geneticist, Dr. Grange and is trying to put as much information together about him before he attempts to send any blood work off for a possible diagnosis, but as you know, we have not yet been able to locate the gene that has caused Charlotte's problems, and we may not ever know what it is.
As I am typing, Ryan's MRI is in progress and may take 2-4 hours. They are scanning his brain and spine. He has to be sedated for the test and will be on the ventilator for it. He will come back to the ICU with the breathing tube and hopefully they will take it out tonight, but he may have difficulty being extubated. We don't know. They will hopefully start feeding him through an NG tube tonight, and we may have results of the MRI tonight.
Right now, we do not know how long Ryan will be here. We are still at St John's and Ryan may only have a few months to live. The unknown is very very frustrating and scary, but Chris and I have watched our son deteriorate quickly in the past 1.5 months and can only hope that it doesn't continue. We are shocked, scared, numb, tired, restless, but most important, we know we are surrounded by love, friends, family and prayer. We are taking our time hour by hour, day by day and loving the little moments that we have been able to connect with our son. We will continue to update everyone through our blog as it is heartbreaking to tell our story over and over. Please email us if you have questions or just want to say hi or comment on the blog, and thank you all for your love.
Chris, Jenn, Charlotte and Ryan