One Year After the Diagnosis

It's been about one year since we learned that Quinn has Fragile X Syndrome. It feels like we've lived a lifetime since the day we got that call. I feel proud that we've made it with our sanity (mostly) intact. We both have a few new wrinkles and some battle scars, but we've passed through what might arguably be the most challenging phase of this journey. Quinn's diagnosis has opened up unexpected opportunities. To love, unconditionally, an adorable, happy little person. To see the delight on his face when he uses his hard-earned pointing abilities to ask for things and to show us doggies and trucks. To appreciate the miracle of human development. To meet (in real life and online) strong, smart, funny, wise, patient, inspiring people. To revisit high school genetics and biology lessons. To learn a new vocabulary. To reflect on our values. To experience deep gratitude for the people who have supported us. To join the movement for increased access to resources and opportunities for people with fragile x and other disabilities. To feel strong as a family, as a couple, and as individuals. We are probably not done grieving, but it's good to remember that we're still here, laughing, crying, loving, and being.

After the diagnosis

You all must've known that after the flurry of light-hearted posts, we'd have to throw in a serious one. We have talked many times about the period right after we got Quinn's Fragile X diagnosis, how we were feeling, and what was or would have been helpful. I wanted to write this post while the feelings were fresh enough to remember, but no longer too difficult to write about. We got Quinn's diagnosis about five months ago. For about a year before the diagnosis, we knew he was delayed in his development, but we didn't know why, and we didn't know that it was a permanent (or perhaps someday, but not today, curable) condition.

We are very grateful to many family members, friends, co-workers, and acquaintances who expressed their love and support for us. Some of them commented, "I don't know what to say/do." At the time, we were so consumed with our feelings, we didn't know how to respond.

Now that we've had a little time to think, we have some ideas, which we hope will be helpful to people grappling with a new diagnosis.

When other sad events happen to a loved one, friends and family may feel awkward or unsure about what to say or do, but there is usually a social script or personal experience to rely on. For example, many people have experienced the loss of a loved one, and we have ways, as a society, of dealing with that, like bereavement leave, rituals, and offers of casseroles. We have no social script for dealing with parents who have just learned of their child's special needs diagnosis, and most people have not personally dealt with something like this themselves and statistically speaking, they probably never will.

So here are some things you can offer - or ask for - in the period right after a child receives a special needs diagnosis:

1. Time off from work and other social obligations. One of the things that was hardest for us was that we felt expected to carry on with business as usual. This was very difficult. We desperately needed a break, and found it difficult to ask for one.
2. Babysitting help. As much as we love and adore our little guy, it was hard to process this information on very little sleep while avoiding tragic toddler accidents, changing diapers, reading Dr. Suess, and wiping a constantly runny nose.
3. Help with household stuff. For the first couple of months, we were so sad and exhausted that just paying our bills, doing laundry, and maintaining our house felt onerous.
   
4. Social outings that do not involve children. For the first couple of months, just seeing typically developing children was heartbreaking.
   
5. Meals, flowers, cards, emails. All of these little reminders that people care mean so much. We treasured the kind words and deeds of our friends. One night a friend of mine invited me over for dinner, when her husband was working late, after her son had gone to bed (see #3). The dinner was spaghetti with jarred sauce and a green salad. I cried in the car on the way home after seeing her, out of appreciation for her kindness. It was so nice to get to talk with her in a quiet, warm, comforting space, and not have to cook or do dishes.
6. Culturally appropriate spiritual healing. Since there are no rituals for making the transition to being a parent of a child with special needs, it is helpful to find places, people, books, music, and ceremonies that mark and make sense of the experience. We're not talking about the facts; we are geeks and have read too much about Fragile X, early intervention, medications, etc. Edited to add: We are also not talking about the utterance of religious maxims such as, "This is God's way," which can be unhelpful, insensitive, or culturally inappropriate. This is about processes for dealing with the existential stuff: What does this all mean? What now? We are still looking for more ideas on this one, and welcome any resources others have found helpful. (And yes, we've seen "Welcome to Holland". It's okay, but not really doing the job.)
7. Shared language. One of the things about this diagnosis, and probably a lot of other special needs conditions, is that in addition to dealing with feelings of sadness, a parent must also become an expert in the child's condition, quickly learning new words, people, and places. The more friends and family know, the easier it is to communicate about our experiences. Even day-to-day conversation can be encumbered when in the course of making plans, we casually say, "Quinn has an OT appointment that afternoon," and then have to pause to explain what an OT is and why Quinn has one. We love it when people know the lingo because it makes not only the "big" conversations less taxing, but the everyday small talk as well.
   

To help anyone dealing with a new diagnosis who has found this page by googling, we hope that other parents of kids with special needs who read this blog will use the comments section to add your thoughts on what was or would've been helpful to you, or write a post on your blog and link to it here.

A New Language

PT...OT...ST...SW...CHO...LPCH...PIP...LEAP...RCEB...IFSP...POS...IEP...SELPA...PECS...
proprioceptive...sensory integration...motor planning...CGG Repeat...FMR1...MGlur5...
premutation...full mutation...methylation...FXS...FXTAS...FXPOI...carrier...
mosaicism...respite...weighted vest...chewie tubes...Ps and Qs...orthopedic inserts...crib tent...pronation... expressive...receptive...melatonin... folic acid...carnitine...MRI...eustachian tube dysfunction...negative pressure...karyotype...VABS...Bailey Scales...IDS... Peabody...strabismus...mitral valve prolapse...tongue lateralization...lip closure...macrocephaly...hypotonia...joint laxity...joint compression...vestibular

No Yale, No Vassar, No grandkids

When it was first suggested that we test our son for Fragile X, my first thought was, "Do you really think he has big ears?" It was a small, silly thought, but it captured my perspective at the time, which was that I just didn't think my kid was that special. But he is.

When I got the call from our geneticist, it was a lot like all the cliche stories you read about something awful happening to someone. Everything stopped. I don't remember what the doctor and I discussed, except for that one fact. I got off the phone as quickly as I could, because I don't like to blubber in front of strangers or bosses or random acquaintances. (But it does happen sometimes, and since getting this diagnosis, it has happened a lot more.) I put on a video for my son, who I think had never seen me cry before. And then I just sat down and cried until my husband came home from work, about 30 minutes later, though it felt like an eternity.

The next few months were kind of a blur. We did what had to be done. We told our families and close friends. We kept going to work. We tried to act okay. We saved our blubbering for our meetings with a therapist who specializes in talking to parents of kids with special needs.

We are slowly, slowly, slowly coming back to something like normal, but this new normal will never be like our old normal. No professional has ever said that our son can't go to Vassar or have kids. But unless a cure is found - and that is a distinct possibility in our son's lifetime - the best case scenario involves some type of supported living situation and supported employment. Occasionally we read articles in which this scenario is painted rather rosily, but come on now. Even if you don't expect Yale or grandkids, no parent of a young child is thinking, "Gee! Someday maybe my kid can have a below-minimum-wage job and live in a group home!"

There are other rotten aspects to this particular diagnosis. Since it's genetic, and I'm a carrier of it with a relatively high repeat number, there's approximately a 50% chance that any future kids will have Fragile X Syndrome, too. And the decision has to be made fast, because I'm at risk for experiencing early menopause. There's also the issue that my father, a carrier too, is at risk of developing a tremor and dementia disorder, and just the general fact that he feels sad about having unknowingly passed this on. All of this in one phone call. Welcome to Fragile X.