There are always next steps you know, and even when we feel too weary to trudge one more inch, we keep moving. Grieving the acceptance that had not come to fruition from Duke University Hospital was not so hard in the midst of real life. Once my heart had healed a few days, I devoted salvaged energy and time to next steps for Amos.
Amos, three years old, developmentally delayed in all areas, unable to speak proper words and still without a diagnosis, holds the key to my heart. It’s not that an answer would change things, but it would provide an answer to fill in the box for Blue Cross and Blue Shield and likely minimize the number of denials.
We were invited to participate in several research studies and so, we chose the most logical in distance and time. We take Amos this Wednesday for a three hour appointment with the head of genetics at Duke. It will be a thorough evaluation and a chance to discuss our many concerns, as well as the opportunity for Whole Exome Sequencing (WES). There will be no cost for the incredibly expensive blood test, but it will likely take nine months to get the results.
This month we will also see developmental pediatricians at both Duke and UNC and hopefully will find one that is a good fit for us and offer a referral to a pediatric neurologist for a full spine and brain MRI. I had a long phone conversation with the head of Wisconsin’s Undiagnosed Disease Clinic and he recommended doing WES and the MRI, so it was really helpful to know we are on the right track.
Our last appointment is at the UNC School of Dentistry in their craniofacial clinic. This will hopefully address my biggest concern of a submucous cleft palate or velopharyngeal insufficiency. Both can greatly affect speech and though we know there is a neurological component, his lack of making specific consonant sounds doesn’t make sense. It can be difficulty to diagnose and so, we hope this second opinion may offer insight as both issues can be corrected surgically.
Not to barrage you with a liturgy of details, but I would rather you know where we stand and I have appreciated the thoughts, prayers and invaluable advice that has been sent our way. Amos is loving school and using words like hot and hello all on his own accord and we are so thankful for these baby steps.
Lastly, I have two bits of personal news. One, I am to begin writing a column for Carolina Parent Magazine in March. Since my degree from Meredith College is in Child Development and I haven’t worked in that capacity since my days at UNC’s Frank Porter Graham Child Development Institute, I am excited and so pleased to have been asked and look forward to this new adventure.
Two, I am one of several speakers at The Gathering at St. Michael’s Episcopal Church, in Raleigh, NC, the weekend of February 24th & 25th. There will be a primary speaker Friday night and five or so break out sessions Saturday morning from which people can choose. I am doing a talk on finding joy in the messiness of life.
There you go. Thanks always for following along and making the unexpected life feel, most of the time, a splendid gift. Xo, Adrian