Spotlight Revisited || Celia

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When she was about 15 months old, we felt uneasy – she had a good vocabulary for that age, but as she started to walk, she stopped talking. That might be dismissed as normal development, but she never recovered her words. And she never learned to walk well. By her 18 month well-visit, we expressed concerns to her pediatrician and were persistent enough to get a referral for a developmental evaluation. Celia underwent an MRI and although the developmental specialists spent an entire day evaluating her, the results of the MRI gave them clear information – Celia’s brain was dying. We were referred to a neurologist, who sent for test after test at lab after lab. The neurologist actually called it a “fishing expedition.” Finally, the results for the last test the doctor could think to try came back, shortly before Celia’s second birthday. She had the infantile version of Neuronal Ceroid Lipofuscinosis, commonly known (although it’s actually NOT commonly known) as Batten Disease.

Miggy: In your first email you told me that February 28th is World Rare Disease Day and that Batten disease is rare, but not rare enough. Please educate us about Batten disease–how does it affect families, is it always terminal, are there any treatments? How can we help?

Jenni: There is no effective treatment and no cure for Batten. It is always fatal. You can imagine our family feels very helpless in the fight against it – the only thing we can do is raise awareness and hope that funds for research might follow. Batten disease follows an autosomal recessive hereditary pattern – an affected child must receive a faulty gene from both parents. Sadly, many families have more than one affected child. Celia had the infantile version of the disease, with the most rapid progression, but some forms of Batten do not manifest until a child is school age. Children with Batten suffer progressive, permanent loss of motor and psychological abilities. They have seizures and become blind and bedridden. Batten steals time and squanders possibilities. The Batten Disease Association describes it by saying, “it takes the childhood and then it takes the child.”

Because Batten falls in the category of lysosomal storage diseases – dysfunctions caused by a single enzyme deficiency – therapies for things like Niemann-Pick and Tay Sachs could be beneficial in the future treatment of Batten. Unfortunately, even diseases that could potentially share treatments don’t add up to enough customers for pharmaceutical companies to deem them worthy of research because they couldn’t recover the costs of development. So, families like ours must advocate for funds to support research that could eradicate rare diseases.

Thanks so much, Miggy, for allowing us this platform to raise awareness. If your readers are inclined to learn more about the disease or about promising research, they could visit the Batten Disease Support & Research Association website: http://www.bdsra.org

Miggy: Did you know right away that this was something Celia would die from? I think most of us would say, “I can’t even imagine…” yet this was your reality. How did you come to grips with this reality? How did you and how do you cope?

Jenni: We did know she would die. To add to our stress, when Celia was diagnosed I was just weeks away from delivering her little brother, Tucker. Learning that Batten is a hereditary disease gave us immediate concern for the new baby. If he inherited the faulty gene from both of us, like Celia did, he would die too. Tucker was born on Celia’s birthday, the day she turned two. A nurse pricked his heel when he was just hours old — we waited a week for that blood sample to undergo testing and for confirmation that he does not have Batten. Talk about experiencing simultaneous joy and sorrow…

The days and weeks and months during the diagnosis process were the saddest, hardest ones. Looking back, I believe that may be true because long before Celia died, each of the dreams we had for her did. For the longest time, hope felt hard to come by. We discontinued things like swallow studies and therapies and EEGs and adaptive equipment consultations – anything that made Celia unhappy or uncomfortable. We enrolled Celia in hospice a few days after her diagnosis. The hospice caregivers were a tremendous support to our entire family. There aren’t words to describe how valuable their involvement was to our family — hospice helped us find some sliver of good in a hard, heart-breaking goodbye.

We were also very, very fortunate to have help from family members – Celia’s grandparents and aunts, many of whom are health care providers, took care of her routinely, so that we never needed the assistance of home health aides. Celia’s circle of care extended beyond family, rippled out to include photographers and dressmakers, grocery deliveries and babysitting offers, bouquets of flowers and fundraising efforts, head-nods and virtual hugs via the blog. The list could go on.

Two little talisman of the future run around our house and continue to play a large part in the way we cope, too. Although Tucker and Tolliver will grow up without their sister, we try not to let that truth weigh so heavily on our hearts that we miss out on what they do have, what we have. Our family, although reshaped by Celia’s absence, has certainly been graced as a settling down place for our fair share of happiness.

Miggy: Will you tell us about your daughter? What was she like, is there a special story about Celia you’d like to share?

Jenni: The first thing most people noticed about Celia was the corona of copper curls atop her head. And then maybe her cherry red lips or her soft pink cheeks. She had the face of an angel and the spirit of a warrior. And although she was stunningly beautiful, even more remarkable was that Celia had (and still has) this amazing ability to attract wonderfully caring people to her story and into our lives. It’s a bit painful to sift through the past, but what rises to the top are all of the small world connections she created, all of the loving gestures and lavish generosities people gave, and continue to give, on her behalf.

Miggy: Now that your daughter has passed away, what is the best way people can approach you and your family about this? Is there something you wish other people knew so as to be more sensitive/helpful as you and your family grieve the loss of your daughter?

Jenni: We’d encourage folks to follow the lead of our four year old. He has such an innocent perspective on death. He draws maps to “Heaven’s House” and wonders aloud about what Celia’s favorite color would be. To Tuck, death is not scary, or weird or taboo. He doesn’t use euphemisms or avoid the topic and we wouldn’t want others to either. We appreciate it when people let us know that they’re thinking of Celia because fear of her being forgotten feels somehow worse than living through her death.

Miggy: Jenni, as you share Celia’s story what do you hope people will take away from it? Is there one over-arching message or lesson you learned from being Celia’s mom?

Jenni: Our family is full of teachers, and Celia was one of the best. Of all the lessons we learned from her illness, the one I encourage myself to remember most often is that everyone suffers. Everyone has their own troubles, everyone deserves patience and kindness. Frequently, when I’m feeling judged by others or when I interpret someone’s actions as inconsiderate, when someone cuts me off on the interstate, or when someone gives me a dirty look because my kids are loud at the grocery, I try to imagine what that person’s particular parcel of pain may be. That train of thought usually allows my response to be more compassionate.

Miggy: Lastly, I just wanted to ask if there’s anything else you’d like to share with us–about Batten disease, your daughter Celia, your family, terminal illness, or love?

Jenni: The things that marked Celia as different, her presumed deficiencies, are the things that cultivated in us the most love. We grew accustomed to making daily accommodations for her limitations, but we grew more in our ability to see, as paramount, not the things that made our family different, but the things that made our family our family and the thing that makes all families so much more alike than different: love.

Jenni, I am grateful and humbled by your beautiful words. Thank you. I was particularly touched by the gifts your sweet Celia left you–Your increased compassion by trying to imagine everyone’s ‘parcel of pain’ or my favorite, that your family grew in your ability to see love. Much love to your family. Once again I’d like to invite my readers to learn more about Battan Disease by visiting the Batten Disease Support & Research Association website: http://www.bdsra.org.

As always if you or anyone you know would like to participate in the special needs spotlight series please email me, or have them email me directly at thislittlemiggy at gmail dot com.