Eight years ago I sat in the geneticist’s office with my 35 year old daughter, my husband, and her stepfather. The doctor informed us that comprehensive genome testing done in Germany showed Emily had a newly-discovered syndrome called Xia-Gibbs. It is caused by a mutation in the AHDC1 gene and had been identified at that time in 280 people in the world (That number has risen to 390 now). What was this syndrome? Hair raising rare! Brand new! Also “de novo”, meaning it developed in utero. Eventually we learned that the gene is a regulator, and in Emily’s case the mutation was mosaiced. Features were ‘unspecific’ and wide-ranging. Relevant to us were hearing loss, difficulty with expressive language, muscle weakness, impulsivity, poor social skills and anxiety.
On the way home I asked Emily how she felt. She said, “not great but it’s an acknowledgement.”
She had challenges throughout childhood but by age 30 she was doing well, with 3 years of a Bachelor of Fine Arts (BFA) and a job in a newspaper library. Then came the collapse that has never been explained; was it Guillaume Barre? Was it adult onset of the syndrome? She spent 100 days in hospital unable to move. After a year and a half in rehab she walked again and moved into supportive housing. But then she developed diabetes. “This isn’t fair,” said Emily. Why were all these things happening? The diabetes doctor agreed. It was he who ordered the genetic testing that brought us to that day.
It wasn’t fair. But it happened to her, so it also happened to me.
I was in my sixties, divorced from her father, with two children, 2 grandchildren, and a writing career. Emily was by then living independently. We left the appointment that day with a list of the support Emily needed – social work, speech therapy, counselling, mobility help, specialists for eyes, hearing, endocrinology and heart, neurological testing, occupational therapy, physical training, accommodation at the university she intended to return to, and more. This was now my job. Mine and Emily’s job, with me in the driver’s seat and Emily a very determined, though mostly silent passenger.
At the time a social worker suggested I ‘grieve the old Emily’. No thank you. I would not. The Emily I loved, the ‘old Emily’ was still there. And she is here still. Although sometimes I wonder if the old me is.
Emily’s condition and her adaptation to it has taken up residence in my being. She lives independently but I am the case worker. We know we’re lucky. We’re educated, urban and we can afford much, though not all, the help needed. We can speak out when others can’t. Emily is gifted and hardworking, good with technology and is an original and prolific artist. But the whole adventure – I won’t say journey because journey implies that we have a destination, which we don’t – has been revelatory.
There is no treatment. No magic drug. The geneticist employs a counsellor who gives referrals – if we know what to ask for. There might be gene therapy, the doctor said, in ten years. But it will not reverse consequences. There’s no expert here. For the big questions, no answer. For instance, is this progressive?
As anyone with a rare disease – no matter how subtle or pervasive its symptoms – knows, there are huge gaps in the Canadian health care system. Many of these arise from one assumption: that family (a mother, 19 times out of 20) has time and energy and resources to support the individual carrying the burden of a rare disease. But what if there is no such person?
We’ve done what we can. We registered with Dr. Richard Gibbs and with his team at Baylor University Medical Centre in Texas. I joined the Xia-Gibbs parents’ society and their facebook group. Emily has donated art to their fundraising. But we are on our own.
The “rarity” of Xia-Gibbs is partly because full spectrum genetic testing is not done in all countries. Developmental and cognitive issues can be attributed to other causes. The children now being diagnosed with Xia-Gibbs are severely limited, some not speaking, not walking, very impaired, with troubling behavior. Again, we are lucky. Emily is tall where most are short; many have autism, she doesn’t. She is an anomaly even among the rare.
But her symptoms are nevertheless disruptive. Limitations on speech and hearing make communication difficult. The working world does not cope well with neurodiversity. Nor does the social world or even, I have to say, the family. I mind this a lot. I mind the “friends” who abandoned her, the relatives who can’t be bothered. I love the friends who do show up. I’m grateful for the places where Emily feels welcome: her martial arts dojo, the Brain Injury Society of Toronto where she does graphic design. I wish there were many more.
And I love my group of “Forever Mums” who meet monthly to talk about our lives with rare adult offspring. We share tips on how to survive and search for ways to replace ourselves when we’re gone.
-Katherine Govier, C.M.