Diagnosis, WGS and Wheelchairs
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The Weilnhammer Family
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The Weilnhammer Family
We recently received more clarity and questions regarding Camila’s gastrointestinal (GI) symptoms. As you may recall in March, Camila’s colonoscopy showed inflammation that looked like colitis, but her biopsies didn’t show the classic chronic changes that would confirm Very Early Onset Inflammatory Bowel Disease (VEO-IBD). Therefore, her GI discussed with us a possible infectious cause, while remaining suspicious of inflammatory bowel disease. Camila’s improvement on 5-aminosalicylates (5-ASAs) and the recurrence of symptoms when medication was stopped have indeed pointed to an underlying inflammatory process.
Given this information, Camila has been given an ultra-rare preliminary diagnosis of VEO-IBD, a diagnosis given when inflammation and pain is experienced, but the full diagnostic picture isn’t clear enough yet to call it Crohn’s Disease or Ulcerative Colitis.
VEO-IBD refers to inflammatory bowel disease diagnosed in children under age 6. It accounts for about 10% of pediatric IBD cases and when diagnosed age 2 or under, it’s even rarer, making up less than 1% of all IBD diagnoses. Children this young often present differently than older kids or adults and the disease can be driven by a single-gene mutation or an underlying immune disorder. Biopsy findings can lag behind symptoms, and chronic tissue changes often take time to appear. In Camila’s case, it’s very possible that this is true IBD caught early before the classic signs have developed.
VEO-IBD can begin subtly and early symptoms may be mild or nonspecific until something tips the balance. For Camila, her G-tube surgery may have been that trigger that revealed this disease.
To better understand the cause of this diagnosis, Camila has been referred to Pediatric Immunology to be evaluated for Primary Immunodeficiencies (PID) that might be contributing to her inflammation. We have also moved forward with Whole Genome Sequencing (WGS) and we’re incredibly relieved to share that insurance is covering the full cost. WGS can help identify whether a rare, inherited immune disorder is at the root of her symptoms. It can also detect other genetic conditions that might not be on our radar yet. For medically complex children like Camila, it’s an important step toward seeing the bigger picture.
While we wait for Camila’s genetic testing results and immunology appointment, we have been trialing different medications to manage her symptoms while minimizing side effects. Finding the right treatment for IBD, especially in young children, is complex. We are hopeful to identify a medication that works well for our sweet girl.
An update we’re excited to share is we’ve officially ordered Camila a custom lightweight wheelchair. It should arrive in just a few weeks, and we’re hopeful it will support her independence, comfort, and energy conservation.
We also feel incredibly grateful to share that we were gifted a refurbished pediatric wheelchair by Marne and Hans Iwand at Mobility Equipment Restoration in Omaha, Nebraska. While it is a tad big for her right now, we’re looking forward to having it as a long-term option she can grow into. We are so thankful to those who helped connect us to this generous organization and made this possible. Having access to mobility equipment like this is truly life-changing.
This journey is full of unknowns. Camila continues to amaze us with her strength and bravery, and we remain committed to advocating for the care she deserves. Thank you for walking with us, through the uncertainty, the decisions, and the waiting. As always, we will provide updates as we know more.
With love,
The Weilnhammer Family
Comments
Mitch VanSumeren
Kathleen.short
It sounds like the additional clarity will be very helpful in longer term solutions, so for that I'm happy for you all. I must say, those photos of Camila are so darn cute!!! You can see she is a very strong, brave, and sweet little angel who is loved by so many. You are amazing parents and I admire your strength and courage! Keep on keeping on!!! Thank you for sharing the update. You are all in my prayers. Hugs to your familyl!!
Teresa Kolpak
Marykate Fitzgerald
Michael Reilly
Mary Reilly
Raising a medically complex child requires so much flexibility and extra dedication. I admire how you two have navigated Camila’s journey so far. You have left no stone unturned. She is a happy little girl who knows she has two parents who will always be there for her. I know that Camila is blessed to have you two as her parents and you are blessed to have this beautiful child to love. I will always be there for all 3 of you. I also love love her little pony tail. 💜
Megan Reilly
Eprfitz