We Have A Diagnosis: What We Know

Since we received the news of Rosalie’s diagnosis on the 8th, Phil and I have spent time researching and learning more about her condition in digestible bite sizes, while trying remain focused on the priorities that follow any adoption: creating routine, building attachment, and bonding as a family.

I personally have also been spending this time processing my own thoughts and emotions and getting re-centered in the Word to maintain perspective. Little by little I have begun delving into the experiences of other patients and families in order to begin educating and orienting myself in this new world of deep medical and lifestyle complexities that will increasingly become Rosie’s reality. The last week has made me even more grateful for the equipping the Lord has provided through my background in physical therapy and the experience I have gained navigating Micah’s medical and developmental needs. It is by no accident that we have entered into this season at this specific time, rather, this was all carefully orchestrated by the God of all wisdom.

I think part of my hesitation to share about Rosie’s condition comes from my desire not to be misunderstood because eloquent I am not. So in the interest of clarity, let me begin by saying that Phil and I were neither shocked nor devastated by the news of her diagnosis.

From the outset, we were led to adopt Rosalie specifically, and this was at least in part because of her physical special needs. Though her medical file was sparse, we had a description of her developmental status, and were given a diagnosis (a symptom really) of “general fatigue.” Along with this information came photos and videos that we reviewed with physicians. Through these discussions we were able to determine that there was at least a small chance that she could have a progressive, potentially life-limiting neuromuscular condition. Armed with this knowledge, while also considering the many remaining unknowns and subsequently choosing to yield them to God, we committed that Rosalie would forever be a Brangers!

Nearly a year after beginning the adoption process, we met our lovely, spunky, smart girl! Within moments of laying eyes on her the PT in me instantly knew that Rosie likely did indeed have an underlying neuromuscular disorder, and I shared these suspicions with Phil.

Fast forward, and we have officially been home for 2 months! Rosie has settled into a routine with which she thrives, is asking to eat at every mealtime, and chugging along with the process of attachment. She has nearly defeated her fear of public toilets, actually enjoys bath time, has shown us her love of music, dancing and singing, and wants to do everything her big brother does. She is becoming more confident daily, getting into everything and making mischief all over the house with assistance from her two new canine confidants (please send bubble wrap)! We have a hospitalization under our belt, along with trips to many specialists, with many more office visits to come. On March 8th we received the results of Rosie’s genetic tests and soon had an opportunity to see the geneticist about her diagnosis last week.

In the interest of increasing awareness, here’s where things get a little technical:

Rosalie has a mutation on her COL6A3 gene which leads to a deficiency or abnormality of a protein called collagen 6 (collagen VI) which comprises a critical part of the extracellular matrix of muscle cells (the structure/stuff between the cells). This results in a spectrum of symptoms, of which Rosalie falls on the early onset/more severe end. This disorder is called Ullrich Congenital Muscular Dystrophy (UCMD). UCMD often causes weakness in skeletal muscles, hip dislocations at birth, skin changes, hyperflexibility of the wrists, stiffness or contractures in hips, knees, shoulders and elbows, thoracic spine kyphosis (progressing into scoliosis), a rigid lower spine, and an arched palate (all of which Rosie has).

As muscular dystrophies go, UCMD progresses slowly, though worsening weakness and joint stiffness often eventually results in loss of the ability to walk. At some point in childhood the respiratory system becomes involved, first at night, but breathing function often continues to decline into adulthood requiring additional support. Kids with UCMD often also have difficulty feeding resulting in prolonged mealtimes (that's us ✋), and may end up eventually requiring the help of a feeding tube. However nutrition will be a delicate balance, because the muscles aren’t capable of carrying as much weight, and due to this condition these kiddos can’t be expected to follow a typical growth curve.

The symptoms of UCMD present differently in every patient, and Rosie’s particular gene mutation has only ever been reported in one other child. As research continues to accumulate we may get more information, but as with most aspects of life we will have to wait and see.

In many ways, I know our broader experience is no different than everyone who chooses to bring a child into their family, biologically or otherwise, because in making that choice we all also welcome the unknown. No parent ever knows what the future holds for their child. We have chosen like many parents before us, to firmly place our hope in the Lord.  

Does this mean we haven’t felt overwhelmed? My goodness, of course not! Sometimes the bigness of it all weighs really heavy.

Do I ever feel fearful of what the future may hold? You bet I do. There have been tears shed and anxieties expressed, and there will almost definitely be more down the road.

Are we still over the moon that our family is one Brangers stronger, together at last for our time on this earth? Praise God, YES, forever yes! 🙌🙌🙌

It is true that Rosie's condition will result in changes for our family. Yes, we know there will be hard times to come and we will grieve losses, but no, we are not devastated by the news of this diagnosis and we don’t want you to be either! It does have serious lifelong implications for our girl, but it does not define her identity. It is our ultimate hope and prayer that Christ will fulfill that role in her life! She was made in God’s image after all! 

As with our adoption processes, we want to bring our family and friends along on our continued journey as a family of 4. This Monday we received the all clear from cardiology after Rosie's EKG and Echocardiogram looked good. Next on the schedule is our first outpatient visit with a pulmonologist (next Friday), the start of therapies in April, and our first visit to the Muscular Dystrophy Clinic the first of May. Please pray with us as we continue to be molded together as a family, and that we can give Rosalie everything she needs to maximize her independence (she will happily take all of it that she can get 😉).

Thank you as always for your love and support!