Lily is 12 years old. She will be undergoing full spinal fusion June 24th at Johns Hopkins Hospital. Thanks for joining the journey here with us!
Lily was born with a rare neuromuscular condition called Collagen VI Congenital Muscular Dystrophy (also called Ullrich CMD). Here's a little medical explanation to accompany the long name... People with this genetic condition produce insufficient collagen VI, a protein essential for the production of the extracellular matrix (ECM). ECM provides the scaffolding that supports the structural integrity of skeletal muscles, so without it skeletal muscles become weak and floppy. As time and gravity do their work, people with Collagen VI CMD develop progressive muscle weakness as their skeletal muscle cells collapse or weaken, leading to loss of the ability to walk, stiffening of joints (contractures), and other muscle-related issues. Neither the brain nor the heart are impacted, thankfully. Lily walked, albeit with difficulty, until age 8. At that point she and her physical therapist let us know - she had a need for speed and wanted a set of power wheels. She's been a wheelchair-user ever since.
You can read more about Collagen VI CMD here:
https://www.curecmd.org/collagen-vi-ullrich-bethlem (CureCMD is a wonderful non-profit that directly funds top researchers advancing understanding and treatment of rare CMDs. Please consider supporting them). Note: if googling Collagen VI CMD, please steer away from information prior to 2018 as there have been huge advances in understanding in just the past few years.
Our spine maintains its proper shape due to the support of the skeletal muscles in our back. People with Collagen VI CMD develop a progressively curved spine (scoliosis) due to weakening muscles that no longer hold the spine straight. In time, the curved spine can cause problems as the heart and lungs start to get compressed; it can also lead to pain. We have known all along that at some point, as Lily's scoliosis progressed, spinal fusion was a given. Now is the time - and June is the best month for this, as she can recover over the summer and not miss out on school (much to her chagrin). Here's a great educational link about scoliosis:
https://www.settingscoliosisstraight.orgHer spinal fusion surgery is set for June 24th at Johns Hopkins Hospital with Dr. Paul Sponseller, Chief of Pediatric Orthopedics, who specializes in scoliosis correction and has been following Lily since she was an infant. We feel Lily is in the best of hands. That said, it is a significant surgery - metal rods will be placed along the entire length of her spine. As well, respiratory skeletal muscles are affected in Collagen VI CMD, leading to diaphragm and breathing weakness. Thus, a key concern in surgery is the effect anesthesia might have on respiration. So the anesthesia team needs to take great care with Lily - it is a challenging balance. Lily has only undergone one smaller out-patient surgery to date, so we are entering new territory with the extent of this surgery. A deeper understanding of Lily's condition has advanced by leaps and bounds just during her lifetime, and along with this we've learned quite a bit on how to prevent complications. But there is so much more to learn, and in many ways we feel like pioneers. The expectation is that Lily will be in the PICU for 2-7 days, then to a step-down unit, then to Kennedy Krieger pediatric rehab for a week or two, then home. The recovery time is generally 4-6 weeks.
The good news - Lily is excited to grow at least two inches taller and to never have to wear her chest brace again!
We will keep you updated here. Thank you for keeping Lily's well-being in your heart, and for all your support, care and friendship. It means the world to her and us!
xo
Jen
Lily's mom
Patients and caregivers love hearing from you; add a comment to show your support.Help Lily Stay Connected to Family and Friends
