I often think back to the moment Curren was born, a 9 lb pink and cooing healthy baby. I remember the rush of relief when I saw his 10 fingers and 10 toes, his plump and beautiful face, and his perfectly round head. “Congratulations, he is healthy and normal” they said! I think back to the first few months of his life and how blissful and perfect it all felt. Curren was a happy, laid back baby who slept great and loved to snuggle; life was fantastic. My mind often went to dreams of the future. I saw visions of Curren chasing Weston in the backyard, of them darting out of their beds on Christmas morning to see their presents, of boogie boarding together at the beach, of the boys coming to our house at the holidays with their children/my grandchildren. It is heavy and devastating to give up on those picturesque visions. My grief is not in the mourning of a death, but sorrow for the devastation that has shattered my dreams. I am grieving the child that I lost, but that I still have.
What does my grief look like? It is the embarrassment after bystanders wanted to call 911 on my child who was having a sensory meltdown at the crowded reading of The Polar Express at Barnes and Noble. It is the shame felt watching someone ask Curren to clap or crawl for them like he is a dog being asked to perform on command. It is the pain left after a stranger questioned what was wrong with his legs on the first day out in his wheelchair. It is the desperation I feel after working a full time job and knowing I am coming home to another full time job of carrying, wiping, hand feeding, soothing, holding, teaching, loving, case managing, applying, appealing, and researching – all which may be necessary for decades longer or until my body can no longer do it. It is the anger burning inside in knowing that my son has important things to say, but that we have not yet found a way to make it so we understand him. It is the stinging sadness I swallow when parents complain about how they wished their child wouldn’t talk so much or how exhausted they are chasing after their baby who can now walk. But mostly, it is the guilt following the acknowledgement of embarrassment, shame, pain, desperation, anger or sadness.
Don’t mistake my grief for negativity. In fact, I feel more optimistic that ever about the future. My intense love and pride for my child is not in question, but the disability that has shattered my dreams is always stinging. The grieving never ends – there are no stages or moving on. I am, however, blessed to accept and embrace grief. Ironically, grief and hope seem to have a direct relationship for me. My grief inspires our journey, and it is the reason we do the things we do.
How do I stay hopeful and optimistic? I honestly don’t stray too far from the present. Life is precious, and what we have today, we may not tomorrow – and even if it’s not what we first dreamed of, it is still a tremendous gift. Curren is not able to chase Weston, but that doesn’t mean they don’t play in other beautiful ways. The excitement of Santa’s presents still happens, we’re just not barreling down the hallway on our own to see what is in the living room. We go the beach and have a blast (although it is exhausting). We work hard on the things that keep this grief burning, and will one day walk and communicate important things. My dreams are still here, they are just a variation of my first vision. The common theme to it all was laughter, happiness, and joy – and we definitely have that. Life is unexpected, unplanned, and beautiful.
From Autism Spectrum News - Winter 2017 Issue
By Emily Singer
By the time her son Curren was 3 months old, Nerissa Ramsey knew there was something different about him. He had low muscle tone and flapped his hands. Hand-flapping is a repetitive behavior commonly seen in autism.
After consulting with a series of specialists, the Ramsey family was referred to a geneticist. The standard test for developmental delay — chromosomal microarray analysis— looked normal. So did other genetic tests the doctor ordered over the next year and half.
Curren, meanwhile, began to regress. He lost the handful of words he had begun to use at 12 months. He also stopped using the signs he had learned for “more” and “eat.”
When Curren turned two, the Ramseys decided it was time to try whole exome sequencing. This is a genetic test in which scientists decode the portion of the genome that corresponds to proteins. Exome sequencing is often used in genetic research. But it is still fairly new as a tool for clinical diagnosis.
Few families with an autism diagnosis will be referred to a clinical geneticist. Fewer still will be offered exome sequencing. Curren’s severe symptoms and negative results on other tests made him a good candidate.
Four months after submitting their son’s DNA sample, the Ramseys finally got the answer they had been searching for. Curren had a mutation in a gene known as HIVEP2. This gene is involved in brain development.
The condition is incredibly rare. When Curren was diagnosed, only three other children with mutations in HIVEP2 had been reported in the scientific literature. All of them had developmental delay, intellectual disability and muscle weakness.
Scientists know little about the effects of the mutation. And no treatments exist for HIVEP2 mutations. But the diagnosis was a relief to the family. Nerissa said that just knowing about three other children with the same genetic condition was helpful.
The family’s geneticist was optimistic when delivering the results. She noted that all three children eventually learned to walk and talk, meaning that Curren might one day as well. “That helped a lot,” Nerissa said.
The diagnosis also gave the boy broader access to certain tests and treatment programs. “If you can put a name or reason behind what is going on with your child, it opens so many more doors,” Nerissa said.
A Growing Network
As soon as the family learned of Curren’s mutation, Nerissa reached out for help. She blogged (http://nerissaramsey. weebly.com/) about the diagnosis and asked friends and family to share the post. She began researching the gene. She wanted to understand its biology and how the mutation worked.
In April 2016, a new paper on HIVEP2 popped up (https://www.ncbi.nlm.nih. gov/pubmed/27003583). It described six additional children with mutations in HIVEP2, including Curren. (The Ramseys had given their geneticist permission to publish his information.)
Nerissa was thrilled to learn about the additional families with the same disorder. And she reached out to the study’s senior author, Dr. Wendy Chung. Chung is a clinical geneticist and scientist who leads SPARK (https://sparkforautism.org/portal/ page/meet-the-staff/).
At Chung’s suggestion, Nerissa enrolled in the Simons Variation in Individuals Project (VIP) (https://simonsvipconnect.org/). This is an online community that supports families with rare genetic changes linked to autism and developmental delay.
Through the VIP, Nerissa and Chung set up a virtual conference for HIVEP2 families, which took place in December 2016.
Connecting with other families has been extremely helpful. “When dealing with such an ultra-rare diagnosis, most doctors have never heard of it and are not that interested in learning more about it,” Nerissa said. “The family community is probably the strongest resource we have, short of Dr. Chung, who has taken us under her wing.”
Nerissa and some of the other parents formed a family support group. “So far, three families found me through social media and my blog, outside of the families that have currently been published,” Nerissa said.
Most of the children in the group are older than Curren. So the Ramseys can learn from them about what to expect. For example, more than half of the children in the group have severe vision problems. “So I am monitoring Curren’s vision and taking him to see an ophthalmologist more often than I would have, had I not had that information,” Nerissa said.
SPARK hopes to provide other people with autism and their families with a similar chance to learn about genetics and connect with other families. People who enroll in the project will have the chance to have their exome sequenced.
However, SPARK’s genetic analysis differs from that of commercial sequencing services, such as the company that analyzed Curren’s exome. SPARK is starting by focusing on a fairly narrow set of genes — including HIVEP2 — and mutations. The ones the project is looking at have strong evidence of a link to autism. These genes have been identified in multiple studies, all in more than one family.
One of SPARK’s goals is to aid in the discovery of additional autism-linked genes and then add those genes to the list of results to return to families who wish to see them.
Chung cautions that not everyone who has his or her exome analyzed will get an answer to the cause of autism in their family. SPARK scientists estimate that sequencing will detect an autism-linked mutation in roughly 10 to 15 percent of participants.
In the meantime, SPARK provides many other chances to participate in important research that will enhance the understanding of autism. Indeed, Chung’s goal for SPARK is to create a community where researchers and families can connect in useful ways.
“This is about trying to make the process more efficient and more inclusive, so that people who have historically been left out of the research process can become involved,” Chung said.
For the Ramseys, getting a genetic diagnosis and connecting with other families has had a powerful impact. “My ultimate goal is to accelerate research,” Nerissa said. “If you can find a community, whether it’s two or three families or thousands of people with the same diagnosis, there is strength in numbers.”
Today we simply don’t know enough about autism. SPARK—a landmark autism research project—aims to make important progress possible. SPARK stands for “Simons Foundation Powering Autism Research for Knowledge,” and the mission is simple: we want to speed up research and advance our understanding of autism to help improve lives. If you or your child has a professional diagnosis of autism spectrum disorder, learn more about SPARK by visiting https://sparkforautism.org/.
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I am a mother, architect, wife, and a lover (not a fighter) - with a thirst for knowledge. My journey been recently refocused, as my family navigates through the world of medical and developmental uncertainty in hopes of providing every opportunity for my son to be his personal best in life.