February 2020
"Since Dahlia was 8 months old, we were concerned there was something wrong. She was a little floppy, wasn’t sitting up yet, and she did a funky thing with her eyes; she would look out of the corner of her eyes up at lights or sunshine through the window and turn her head all the way to the side while keeping her eye on the light, similar to stimming. She also wasn’t reaching up to us, nor pointing on time. She was, however, very attentive, engaging, vocal with babbling and laughing, loving, social, very much present in our world. This seemed to stump doctors and therapists a bit, because it didn’t appear to be autism. Nor did they think it was Cerebral Palsy. We did an MRI at 16 months, which showed delayed myelination, but that didn’t bring us to any sort of diagnosis, and there was a chance it would catch up. Of course, we hoped for that. She also had a thin corpus callosum, but we learned that many typical people have one too.
We did a microarray test early on, and were relieved to hear nothing was off there, same for metabolic testing. She was testing inconclusive for all her hearing tests, but we believed she could hear just fine, she was just hypo-responsive to the beeps and sounds, they likely weren’t interesting enough for her to turn her head to.
By 12 months old, Dahlia was in Early Intervention and going to Physical, Occupational and Infant Stimulation therapy a few times a week. I still had hope she would catch up.
Around then, I was worried she may be on the autism spectrum. I laugh now, thinking that I was so scared of that word. I just wanted a typical daughter so badly. What I would do now for a diagnosis of autism (not to downgrade the difficulties autistic kids and their parents can go through, but something non-degenerative would be a dream come true).
After she was about 20 months, not walking and without any real words, the panic and dread really set in. I knew something was wrong. She was also now hitting herself in the face a lot, often fussy and frustrated (likely because of the disability to vocalize), had one hand in her mouth often, shrieked and screamed for fun, sometimes flapped her arms, and rocked a lot. I feared things like Rett Syndrome and Leukodystrophy, or other things where the person got worse over time and died early. I specifically remember telling my friends, “whatever it is, fine, I can take it, but please don’t let it be degenerative or regressive”. I googled every syndrome I could find. I looked up all the kids I could find with symptoms like Dahl’s. I inspected Dahlia’s hands, fingers, eyes, ears, palette in her mouth, trying to find a connection to a disorder or disease. I became obsessed, anxious, up all hours of the night on my iPad reading things and getting worked up.
We had done whole exome sequencing and had to wait two months for the results, but we weren’t really expecting to get an answer, as only 25% of patients get a result from that test. But I got the call April 30th that she had a mutation on her WDR45 gene, and as the geneticist was telling me on the phone “let’s not worry yet, I have to do more research, let’s meet tomorrow” I was on google reading rapidly. I found instantly that it did not look good. We met with her and a counselor the next morning, and she concluded that what I googled was correct: it’s a neuro-degenerative disease, called BPAN, an NBIA disorder. She may not walk or talk, she will be intellectually disabled, and if we’re to rely on the pattern of other BPAN patients, the worst of this disease will take over and ravage her, drastically, as young as age 12 – 25, and she will die early.
We were floored. We just sat there, not knowing what to do or say. It felt like we were in a bad movie, not knowing how to react to such horrific, devastating news. I could tell the doctor and counselor didn’t really know how to end the meeting. Was there supposed to be sad music playing over their script? Was I supposed to crumble to the floor, screaming “No!” and sobbing, and were they going to grab me and hold me as I moan and cry? We just sat there, in a plain small conference room, nothing but a box of Kleenex on the table, quiet, the ladies being as nice as they could but basically repeating the facts over and over, and murmuring condolences, and Branden and I just kept…. sitting there. I think we almost didn’t want to get up because that would mean accepting it. Easily the worst day of my life. We left the building, went outside to our cars, and the world kept operating. I remember that startling me.
It was hard to come home to look at Dahlia. It was extremely hard to look at her, hold her, and picture all the things this disease would do to her. It was hard to see Teddy, healthy, happy, playing away, and picturing him not having the sister we hoped for. I no longer could see a brother and sister growing up together, being a year apart in school, razzing each other until the end of time. It was hard to look at my husband and see the raw pain in his eyes, to hear him cry on the phone to his father in the garage, and knowing he’s crying as much as I am when we’re alone.
I cried almost every moment of every day for weeks after that. I truly had tears in my eyes 24/7. I burst out crying and choking on sobs the second I would leave work and walk to my car. The largest two thoughts in my head were “I do not want this in my life.” and “how dare this happen to an innocent child”.
Unpacking that: Yes, truly, the heaviest thing in my heart was that I did not want a disabled child. I did not want to raise a child who was mentally and physically handicapped. I strived for a great, fun, happy life, and this screwed up my plans, and I was distraught over it. And pissed off. All my hopes and dreams of how I would raise a daughter was gone. I didn’t want to be a special needs mom. I didn’t want to wear the rally shirts, do the fundraisers, the special Olympics, take her to therapy and befriend the other special need parents. I did not want to be in that club. And it was extremely difficult to grasp that not only was Dahlia disabled, she was to get worse, and die from it, likely before I die. Was this a joke? How much crueler of a disease could this be? How much more of a sad outlook of a life could we imagine for ourselves? And I asked myself, would it be better if she were to just die sooner, now, before she grows up and we have to do so much for her, see her learn some things, then lose them all, suddenly regress, be in a wheelchair, feel pain, then soon die? Which would one prefer? 30 years of a rough sad life or a couple years of an easier life, both still ending in tragedy and heartbreak? Would I feel more pain losing her now, or losing her when I’m 70? Admitting that I wondered that is hard to write here.
I was so mad this happened to her, and that this happens to other kids. Having no chance at a healthy long life from day one and based on no one’s doing. Just a fluke in genetic operation. No cure, no true treatment, just zero shot to get past it or fix it, currently. So many people get to be born with little to no problems, cognition and abilities on point, and they take it for granted. I was mad about parents with healthy kids, especially the one with multiples, that they escaped BPAN more than once. I was also mad about parents fretting that their kids have a speech delay, or bad eyesight. I was even mad about the parents with kids with cancer (I’m really being honest here, please bear with me), because at least there was a plan, a treatment, and a chance at getting better and having it behind you. To be clear, I wasn’t mad at other parents, but I resented that they just got lucky, most of them. That their life would likely be infinitely easier compared to mine. That they got into a different club, the “typical” club, the club you plan for and hope for and really, expect to be in when you become a parent. This was my clearly my anger stage.
I sat there, angry, for almost a month, keeping my head down at work, not talking to many people, not wanting to see my friends. I averted my eyes when I saw toddlers Dahlia’s age. I muted most mom friends on Instagram. I was active on social media about it because it did help my mood to raise awareness and funds for BPAN research, and it was easy because I didn’t have to be face to face with anyone. My birthday and Mother’s Day passed, and each day was like an ugly, sad, dreadful gray cloud, that still didn’t quite feel real.
As each day passes, and especially after my return from the NBIA conference, I feel a little bit stronger. I met some amazing, strong, smart families, who are living their lives to the fullest. I feel a little bit more hopeful that we can manage to make our lives all still happy ones. That we all deserve that. That Dahlia is here and she’s happy and loving and sweet and gorgeous. That she has an incredible brother who also deserves a happy, healthy, positive mother. My husband deserves the same. And me too, I deserve to still have a life, to still have hopes and dreams I can fulfill, to still let loose, laugh about stupid stuff with my friends, indulge and waste time watching reality TV, and raise my kids as I intended to, to be kind, loving, happy humans.
And slowly I came around to realize that we all take the same chance when we want a family and conceive. We all take that leap of faith and develop a fetus in us that we just can only hope will be healthy, and beyond the medicine and science we can control, it’s just out of our hands. A mom with a healthy kid could have just as easily had a kid with BPAN, and she’d be in my shoes, or worse shoes (I realize there are worse diseases and life outcomes than BPAN). Those that want to become parents are opening themselves up to also being in my shoes and are equally vulnerable. We all volunteered for the same job here. Suddenly, I felt a lot less alone when I thought of it that way. Being a parent is the most selfless act, the hardest job, and in a way, we’re all in this together, doing the best we can with the deck of cards we were dealt. We all chose a seat at the table and we all took a hand. So really, we are all in the same club.
Dahlia is the sweetest, cuddliest, chunkiest two-year-old around. She is walking, and signs about 6 signs now! She loves music, Minnie Mouse, and reading books. We are so proud of her and we love her so much. Although I hope for a day where BPAN is a wiped-out disease, we've adjusted to our new normal and see Dahlia as our perfect Earth Angel."
