HOPE TODAY
A Letter from a
BPANWarrior Mother

At the end of 2012, I gave birth to a beautiful baby girl, Eva Marie. She was an amazing addition to our family and to some extent, was an incredible healing salve for some of the pain and loss I felt after burying her brother RJ, who was born very prematurely in December of 2010. To be sure, Eva was be the third and last of our all-girl Chisholm Clan, Ella, Emma, Eva. Three incredible girls, three different personalities, all so completely loved and cherished. 

As with many BPAN patients, my pregnancy, Eva's birth and the first several months of her life were quite similar to that of her older siblings and would be considered rather unextraordinary (other than the fact that I love babies and I think all babies are quite extraordinary). Aside from the fact that Eva rarely slept for more than 1- 1-1/2 hours at a time and seemed to sleep less than any infant I knew, she was otherwise happy, loved to be held and was easily comforted. She took to breast feeding like a champ and gained weight like my other two sumo-babies. She cooed and smiled and most of she was my "cuddly" baby. She loved to be held and wrapped up like a mummy; many hours we would just stare into each others eyes. I would tell close friends that I felt that she could see deep into my heart and I often felt the presence of God when I looked into her eyes.

Looking back there were some signs. She was able to roll over and push her chest up with the use of her arms relatively on schedule, however she made little attempt to crawl or sit up. By the time she was 15 months old, she had missed all her milestones and we knew that testing was necessary - early intervention would be necessary. By the time Eva was 18 months old, she began to receive OT, Speech, PT and PTDS services weekly, through the auspices of  Early Steps, funded by Easter Seals of Palm County, Before her second birthday, her vision was tested and we found that she was highly myopic and she was fitted for her first set of glasses.

 

Although Eva never scooted or cruised along furniture, at 2-1/2, a week or so before mother's day, Eva took her first steps. This was for us, an incredible occasion, bring with it a whole series of complex issues regarding Eva's physical safety. Up until then, I was reassured that she could not get into too much trouble, as she did not get around all that quickly.

 

The next two years became a blur of therapy sessions, doctors's visits, evaluations, meetings with the School District squeezed in between the upkeep of my home, management of my small hardware company, running a busy, dynamic household and raising my two, older, very active daughters, who also had individual needs of their own. Even with this seemingly packed schedule, I thought I managed very well. 

On March 28, 2017, nearly a year after we had started genetic testing. we were told that Eva's last genetic's panel had turned up a rare genetic mutation - WDR45. Later I would learn it's name and its full implications. Prior to the genetics appointment I did not even know that we were receiving a diagnosis. I would have never gone to the appointment without my husband otherwise. To say that the diagnosis was unexpected is an understatement. I had long ago accepted that Eva may never be diagnosed and had honestly believed that she was going to be profoundly delayed for the rest of her life. I was not naive to believe that her life and my life was going to be easy, however I knew in my heart, that Eva was a precious soul, who was here on Earth with a purpose. She had already taught me so much about compassion, patience and love. 

I wish I could say that I took the new diagnosis with grace. This is not the case. In fact, to this day, I am still processing her diagnosis. I know that Eva is still my sweet mush. Somehow, since receiving the BPAN diagnosis, the weight of what I feel are new responsibilities, can oftentimes feel overwhelming. I struggle to find balance between being a warrior advocate for my daughter and being just being a mom, who like so many moms without children with complex medical needs, has an incredibly challenging job. Guilt, fatigue and frustration are frequent visitors in our household, and I have yet to find a fool-proof method to keep them at bay. Fear, anger and saddness also are regular bedfellows, and yet, I manage to get up on most days and meet the day.

 

Pre-BPAN I think I could say that I that I would greet the day. Today, I think it would be more accurate to say that I am on some days, just trying to make it through the day. I don't know if I will ever make peace with BPAN,  that I am hoping to trying to make peace with a visitor who is not all that welcome - not unlike that guest who has overextended their welcome. I know that BPAN is about as real as it gets (it's in the DNA) however, I have now grown accustomed to it's unwelcome advances. I try not to initiate or engage research to balance the responsibilities that