Annabelle

Age: 22 months
Duplication: duplication on chromosome 4 (4p16.3-4q12) and a deletion on chromosome 21.
Lives in: Virginia, USA

Here is the story of our daughter Annabelle, 22 months old, living in Virginia, USA. We are early in our experience with Annabelle, but we are learning, learning, and learning about her and about the world of special needs parenting. Three things stand out for me in our journey so far. The first is uncertainty. 

In January of 2013, we were planning a move from Korea, where we had been living for four years, back to the U.S.  A couple days before we were due to fly, we had my 20-week ultrasound for my second child.  In the doctor’s office afterwards, I heard the words no mother wants to hear: “I suspect there is an abnormality in your child’s brain.”  The doctor had noticed that our baby was missing the corpus callosum, the part of the brain that connects the two hemispheres.  That was where our uncertainty began.  Would our baby have an isolated brain abnormality, like our friend’s child who was only mildly affected?  Or would the effects be more severe?  Our next ultrasound led to an amniocentesis, followed by more weeks of uncertainty and more testing.  Finally, well into my third trimester, we had a definitive diagnosis:  our baby had an unbalanced translocation involving a duplication on chromosome 4 (4p16.3-4q12) and a deletion on chromosome 21.  Of course, we had never heard of such a diagnosis before, and neither had our friends and family. The doctors we spoke with had more experience with genetic disorders in general, but not with Annabelle’s in particular. We had some idea of what to expect when the baby arrived, but the severity of her disorder was a giant, terrifying unknown.

Annabelle arrived three weeks early, on April 25, 2013.  After a brief chance to see her face and touch her while the nurse held her close to me, she was whisked into the NICU.  We were scared but relieved that we could finally start answering some of our myriad questions about what our baby would be like and what her future would hold. 

Some of the answers and predictions from those early weeks have proven accurate; some have not. This is the second thing we’ve learned in our experience as special needs parents:  doctors and other professionals are not always right.  While this can be frustrating, it also leaves a lot of room for hope.  For example, one doctor told us before Annabelle’s birth that we should think about how far we wanted to go to keep her alive, as she might have too many abnormalities to survive after birth.  Fortunately, he was wrong.  Annabelle has been feisty and out of serious danger since not long after her birth.  The doctor who crushed us in the NICU by telling us that our baby was most likely blind was wrong.  On the other hand, the doctors who warned us that she would face future surgeries, developmental delays, and feeding difficulties were right.  The young resident who comforted me at the end of a particularly hard day was also right.  He told me in heartfelt, eloquent words to focus on the most important thing: that no matter what difficulties she faced, no matter how great her needs, Annabelle would always know she was loved.

And so she is!  Annabelle is now 22 months old and is happy, sweet, frustrating, stubborn, and determined.  Her most significant health issues involve feeding and digestion, respiration, vision, and stiff joints.  She had terrible reflux as an infant and had a feeding tube placed and a Nissen fundoplication (tying off the top part of the stomach to keep food from coming back up) at seven months.  She now receives almost all of her nutrition via her g-tube.  She struggles to coordinate her muscles to eat by mouth, and she has trouble swallowing, so she drinks formula that has been thickened to make it flow more slowly.  Her digestion is slow and her system is irregular.  She was born with an imperforate anus (the end of her digestive tract was just behind her vagina, instead of further back, where it should have been), which was corrected surgically when she was nine months old.  She has been diagnosed with Reactive Airway Disorder, so when she gets a cold or cough, she is likely to have trouble breathing.  We give her breathing treatments with a nebulizer when she is sick.  She has been hospitalized once for pneumonia (on her first birthday, no less).  Her vision is compromised by colobomas in each eye, affecting her irises, retinas, and optic nerves.  I suspect that she also has trouble with visual processing, but she has improved a great deal, so I feel optimistic that she will continue to learn the skills she needs to use her eyes more effectively.  Finally, she has been diagnosed with arthrogryposis, which means that her joints are stiff.  Many have loosened up considerably as she’s grown, but her knees are still quite stiff, and she cannot straighten her legs fully.

 Of course, this is not a full description of Annabelle.  The third thing we are learning as a special needs family is how to look beyond the diagnoses, the health problems, and the complex care to appreciate the unique person underneath.  I feel funny saying that this is something we have to learn because it seems like it should be easy for a parent to appreciate and bond with her child.  But I am not only Annabelle’s parent.  Because of her complex needs, I have learned to be nurse and therapist, advocate and case manager, making lots of phone calls, ordering medical equipment, and visiting numerous specialists with Annabelle.  These roles mean that I spend a lot of time focused on problems and diagnoses and not on enjoying my daughter.  There are emotional barriers to accepting Annabelle as she is as well.  I feel it’s important not to gloss over the grief that comes with having a special needs child.  I still feel keenly the loss of the joy of pregnancy, of the birth I had imagined, of a breastfeeding relationship, of the sibling we had imagined playing with our older daughter.  I feel frustrated and sad when Annabelle can’t do the things other kids her age can do.  I worry every day about Annabelle’s future – what school will be like, whether she will ever reach certain milestones, what others will think of her, whether she will ever be able to live apart from us and what will happen when she has to. This sadness and worry complicates my love and affection towards Annabelle.

Nevertheless, I’m undoubtedly in love with this kid.  Annabelle is a loving, delightful, funny girl.  She is content to sit and watch the family go about their business in a way her older sister never was.  She loves to snuggle, to be carried, and to give kisses and pats.  She especially loves “funny” sounds and music.  She laughs at Velcro opening, at zippers zipping, at trash bags being shaken open.  She calms instantly when she is sung to and she adores listening to music, so we have been enjoying a baby music class together.  She intensely dislikes and fears being placed on her belly but has learned how to wiggle and move herself around on her back with surprising inventiveness and success.  She is slowly learning to sign and delights in being able to communicate with her hands.  She is not sitting yet, but she does sit well on her bath seat in the tub or on someone’s lap, where she can keep her knees more comfortably bent.  She can drink formula through a straw (when she wants to) and eat tiny amounts of puree from a spoon.  Overall, she is a happy, lively, sweet and loving kid who is progressing at her own pace and persevering even though “simple” skills come so much harder to her.  

Having Annabelle in our family has changed our world.  We have learned to live with the uncertainty that comes when a child has a rare disease.  Thank goodness we can navigate our uncertain path in the company of the other 4p families we have come into contact with, who have become a valued community for us.  We also have the help of local and state organizations set up to help kids with special needs.  We never thought we would need early intervention services or Medicaid, but both have been lifesavers for us.  We have learned that doctors know a lot, but that they can be wrong.  We are grateful to have met so many intelligent and caring people whose job it is to help Annabelle and others like her, and we have been amazed by all that medicine can do to help kids with disabilities.  But we are happy to always have hope that Annabelle can exceed expectations. All of us in the family are learning to accept Annabelle on her own terms.  As we do, we are learning to respect and appreciate the tremendous achievements of other special needs kids and their families, and enjoying being part of this new community.  Finally, with ongoing labor, we are beginning to grow from our initial grief and fear into a place of acceptance and peace. 

My blog about Annabelle is Unique is the New Normal.  Someday I will update it again.