Life with Fragile X Syndrome

Assisting the Davenport Family

Assisting the Davenport Family

Melissa

It is inevitable, when Christmas passes…I always hit a slump. The whole month leading up to Christmas is one of total insanity, the shopping, the visiting, the decorating, the baking, the ELVES…let’s not forget those elves (if you missed the elf antics, I have gathered them all here: 2013 Madness)! This is actually really, really common so it’s not really that noteworthy.

But slumps, when depression is constantly lurking in the background, can be bad. Really bad. Black hole where my thoughts should be bad. It’s not pleasant for me or anyone around me, mostly Eric. I am short tempered, I have very little patience, I think snarky thoughts…I have a perma-sneer in my head and I feel badly about all of it. Eventually a new project will form in my head and I jump feet first into it and gladly leave behind the dark, bitter me.

I hadn’t quite gotten to that point yet when, last Friday, I was home with the flu, swinging in Caleb’s therapy swing (I love his hammock swing) and feeling all around miserable when I read that one of our FX families had lost the home they were living in, in a fire. It was shared that someone had gone to the hospital but everyone was out. Then everything changed. Logan, the 18 year old son of this friend, had died as a result of the fire.

It is very hard to explain to people who are outside the fragile X community, or even just new to it, but these boys and girls…these kids we have never met except through the pictures and stories shared by their parents…belong to all of us. We love each others’ children unconditionally. We smile over each picture, we laugh at each funny story, we cry over each hurt, we cheer at each triumph. These are OUR KIDS and we love them deeply. When one of them is hurt, there is an army of angry parents, wanting to know who to call or where to send the letter. There are people who I have never met who have told me that Caleb is like another grandchild to them. They talk with their friends and family about what he does, where he goes, what he said.

So the news that Logan had passed, hit our community like a truck. There was a brief period when everyone begged for it to not be true, followed by a period of utter despair. We saw our kids in Logan and this laid bare our deepest, unexamined worries that something bad would happen to our child. It is terrifying to think about how Caleb might react to a fire. Where would he go? What would he do? Would he be able to even respond if we called to him? We don’t know and I pray that I never, ever find out.

In the face of this, because we couldn’t undo it and because we couldn’t even be there to hug our friend at her darkest hour, we had to find some other way of showering this family with our love. Thus the Assisting the Davenport Family fund was born. Within 2 hours it had raised more than $5,000. By the time I went to bed it was over $11,000. To date we have raised over $22,000 for the family.

Having the unfortunate recent experience of being involved in the planning of a funeral, I know that a funeral, once the flowers, the obituaries, the wake, the headstone and burial are all complete, can easily cost $20,000. Is that not insane? It is an obscene amount of money for a family to come up with at a time like this. This fund was a tremendous gift to them and I am so very proud of the fragile X community for lifting that one small burden from their shoulders.

But. This family also lost the house they were living in. Logan’s grandfather is affected by FXTAS, a fragile x related disorder, and is in a wheelchair. Logan and his mother, Sheree, were living at his home caring for him because he can no longer live independently. The lost their son/grandson, all of their belongings and the roof over their heads.

So, while I’m grateful for what we have done in less than a week, I am not satisfied. The family’s loss cannot ever be measured in dollars but the unfortunate truth of our world is that dollars are needed. I’m asking you to please donate to the fund if you haven’t already, I won’t turn away a second donation if you see fit to make one either. And PLEASE, share this fund, e-mail it to your friends and family and ask them to help us lift this family up when they are feeling so broken.

Assisting the Davenport Family (http://www.gofundme.com/DavenportFamily)

Thank you.

Christmas

Christmas

Melissa

Another Christmas has come and gone, we had a month of elf hijinks (Elf on the Shelf: 2013 Madness), a month of decorating, baking and shopping. It’s my most favorite month of the year.

To be honest, I’m not sure how I’ve maintained this love of Christmas. Christmas with a child with special needs has been a unique blend of joy and heartache. When Caleb is happy, the room glows with it. When Caleb is stressed or anxious, there is no glowing…just tears. Many, many tears…both his and ours.

There have been times over the years when Eric and I have looked at each other…worn out, emotionally exhausted, physically drained…and I’ve wondered, “Why? Why us? Why our son? Why can’t joy just be joyous for a change? Why does it have to bring such anxiety with it?” There have been times over the years when I’ve felt selfish for wanting another Christmas like I had as a child because it isn’t about me anymore. I would recall my father telling me that the best part of Christmas is seeing it through your child’s eyes and I would think…Christmas never looked this dark and scary before.

Eric and I learned to adjust our expectations, we tried out traditions and rejected those that didn’t work for us. There is no driving around looking at Christmas lights for us. Caleb has no interest and slowing down in front of strange homes triggers his anxiety. I can see why, he was always wondering if we were stopping and expecting him to go in to a new place with strange people. No amount of reassurance eliminates that. So, we don’t go.

We learned that presents triggered his anxiety. There was too much excitement and tearing of paper and wondering what was inside. He also doesn’t like being the center of attention. We wrapped fewer gifts and we did not pressure him to open them on any timetable. It once took days for Caleb to open all of his gifts. So not the Christmases that Eric and I envisioned.

We found traditions that Caleb loves, going out to find and cut our Christmas tree was the first, the Elf on the Shelf has become another favorite. We found things about the way he enjoys the holiday that make us laugh, the angel on the top of the tree is greeted every time he walks into the room, “Hiya, angel!,” the way he races up the stairs to watch the tree lights slowly turn on (Eric has them on timers, shocker.)

But it was still not the Christmas that we dreamed of. Every year we tempered our expectations but still had that moment of sadness at some point when we watched him struggle through what should have been fun. And yet, we kept at it. We kept adjusting to wherever he was at that time and we kept pushing.

Last night, on our way home from my parents’ house after a looooong, loud, present filled day, Eric looked at me with tears in his eyes and said, “It took 9 years, but we finally got the Christmas I dreamed of.”

And he’s right. We cut our tree, we welcomed the elves back into our home, we asked Caleb what he wanted Santa to bring, and he told us! He woke us with the word, “Santa!” and raced to the tree eager to begin. He pulled presents out from under the tree, read the names and handed them to Mommy & Daddy appropriately, he opened his…happy and commenting on each. The things he had asked for were under the tree and he said, “Yes, we got it!” when he found the things he wanted most.

After the rush of opening presents, he and Eric made us breakfast (french toast) using one of Caleb’s most desired presents (a pink mixer!) We filled our bellies and collapsed in a heap on the couch all snuggled together. Eric dozed, Caleb played Angry Birds and I just soaked it in. I’m not sure I’ve ever been more content, ever.

Then there was more. Rushing and excitement and loud conversations at Grammy & Grampa’s house. There were cousins to jump or step on (they’re all much older, they can handle the roughhousing!) There were hugs and high fives and Merry Christmases. There was a frozen pizza, wrapped up by Grammy that instantly became his favorite gift ever. It was cooked and completely consumed by Caleb that afternoon. Blur, blur, blur…and then it was over.

We were on our way home. Caleb was quietly playing with new toys and reminding us to stop for gas (which we needed) and maybe some “KFC” (which we did NOT.) And riding down that dark highway was when it hit us. It was Christmas, really and truly Christmas…the one we had feared we would never have, the one we had mourned in years past…it was here, we did it. He did it.

One image that will stick with me forever is watching Caleb stop throughout the morning to study the three pictures that Santa left behind when he came to drop off presents and pick up the elves. He would look at them, one after the other, very seriously. It was almost like he had to keep coming back to prove to himself that he had seen what he thought he’d seen. It was pure innocence and wonder.

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Which is exactly what I wanted Christmas to be for him, and for us. I finally got to see it, Dad! It was amazing!

Family Leadership Series

Family Leadership Series

Melissa

Late last week, when Eric was at school picking up Caleb, the principal of the school happened to bump into him. She brought up a program that she thought he and I would be perfect for…but…either she couldn’t remember the name or Eric couldn’t. When Eric first brought it up, I thought we were being asked to speak at some sort of conference. I might have gotten a bit nauseated (shhh) at the very idea but I STILL said, “OK!” Why? Because speaking up for Caleb, until he can speak for himself, is my most important job. She promised to forward the information soon.

Then, on Monday, a message came across our Special Education Parent Advisory Council e-mail list. It was a forward from the PAC coordinator. I skimmed it and realized that this must have been what the principal had been talking about. First, I took a huge breath because I was now positive that this wouldn’t involve me having to speak publicly. Then my shoulders sank when I saw the schedule. It is SEVEN days…three of which are Fridays. I work!

I turned it over in my head for a day and then yesterday afternoon I just decided that it was that important. I have very (very, very) limited paid time off available and I have a lot planned for 2014….we have Advocacy Day in March and International Conference in July…plus, I do like to spend some of my time vacationing occasionally rather than always using it for fragile X stuff. I do need to step back once in a while! This might mean missing out on some vacation time with my family, it might mean less time in California around the conference and in DC around advocacy day but that is OK. No one can do everything, every time. I’m a big girl, I can prioritize and make hard choices. Are you convinced yet? It took me a while to get there!

I downloaded the application and, if I hadn’t been convinced when I started filling it out, I was by the time I finished. The application forced me to think about what I could learn, how much I could grow and how I could make Caleb’s life better.

The Family Leadership Series is comprised of three Fri/Sat (2) day workshops and one final day wrap-up Saturday session.

The workshops (which includes an overnight at hotel) will focus on:

Initiative and Leadership – Participants are given information on the background of the family support movement, leadership, advocacy and the significance of self-advocacy, how to effectively advocate towards creating change and ways to influence funding and delivery systems.

Creating A Vision – Participants learn how to create a vision for your loved one and innovative ways to think about community living and family support, best practices and meaningful options. Families are supported to “imagine better” and to create a vision, with and for their family members, that becomes a guide for their leadership and advocacy.

Policy Making at the Local, State and Federal Level – family members receive information on how to develop networks with legislators and families, on how to access and control resources that affect family stress and satisfaction and how to use legislative change to procure resources.

Our one final day wrap-up session will focus on:

Taking Care of ourselves – Relax, laugh, and experience the value of taking care of you.

What could be more important than that? I came up with nothing. So I emailed the application.

This morning I received an e-mail thanking me for applying and asking for a little more information. Shortly after responding to that, I got a call. I am IN! Yay! I finally told Eric I had applied, celebrated with my birches and then shared with allllll of my facebook friends, of course!

One of my friends in Louisiana reminded me she had done something similar and described it as “life changing.” Then I realized that another friend from Minnesota had shared a similar program before and then a friend in Newfreaking Zealand said she had also done a similar program and that it was an international program. Well then! I was curious, also, when I decide to do things I like to convince EVERYONE that they should do it too! Come on! It will be so much fun!! Ahem. So, I did a little reading (on Wikipedia, naturally) and learned…

There are programs of this type in over 35 US states and several other countries. The program was developed in 1987 in Minnesota by the Govenor’s Council on Developmental Disabilities (GO Minnesota!!) and financed by the U.S. Administration on Developmental Disabilities (part of the U.S. Department of Health and Human Services.) It is part of a growing trend of empowering families and individuals with disabilities to advocate for themselves and their right to live life as fully as possible within their larger communities.

So I clicked around and gathered all of this in one spot so you too can go to a workshop like this one!

If you are interested in participating in the program in Massachusetts, please visit the Massachusetts Families Organizing for Change website for more details:

If you are interested in participating in a similar program where you live, please visit the Partners in Policymaking website to view the list of active programs complete with contact information for the coordinator for each location:

  • In the United States: Active Programs (click on the link, it will open a new window.)
  • Other Countries: Active Programs (click on the link, it will open a new window.)

Partners in Policymaking also offers 6 online courses if you are not able to attend the classes in person.

So. What are you waiting for? Sign up for a workshop, it will be fuuuuuuun! (If not “fun” exactly from a carrier who has anxiety perspective…it will be worth it.)

To the lady at Papa Razzi in Framingham last night…

To the lady at Papa Razzi in Framingham last night…

Melissa

Last night was our monthly FXMNO (Fragile X Moms’ Night Out) event. When we started these a few years ago there was just a small handful of us that would get together whenever we could coordinate schedules. We quickly realized that there was something so healing about sitting down over a glass of wine (or ginger ale)  with people who understood what our lives had become so we picked a regular date and we stick to it. We stick to it so we can plan our other responsibilities around it, it’s that important to us.

Last night, after we had been sitting, talking and laughing for nearly 2 hours, you approached us.

“I’m sorry, I don’t usually do this…” you began.

We all immediately quieted, expecting to be chastised for being too loud…for disrupting your dinner. We were all in high spirits.

“I just wanted to say, it’s been a very long time since I have seen a group of people enjoy each other so much.” You were curious about what brought us all together. I explained, briefly, that we all have children with fragile X syndrome and that this is our monthly gathering.

You apologized and worried that you shouldn’t have interrupted. We thanked you for coming over and invited you to join us. I might have had a lump in my throat.

You left first and waved goodnight. When we left, we all stood grouped outside the door and enjoyed a brief modeling demonstration. The well lit walkway made a great runway, don’t you think? Then we walked to our vehicles and slowly the group split up for another month.

Since last night, that encounter has been playing in my head over and over again. I am glad we thanked you but I don’t feel like it was enough…what I wish I had said was,

“Thank you for being brave enough to approach a table full of strangers. Thank you for not shushing us but for encouraging us. Thank you for interrupting our evening, ever so briefly, to let us see how very special this group of friends we have is. Thank you for making us stop and look at each other and realize that no matter how much fragile X has taken…it has given back too. It has given us friends and laughter and love. It has given us connections with people we otherwise wouldn’t have met. It has given us a family, beyond the ones we were born to, that we can share with and count on. Thank you for blessing us…and reminding us that we are blessed in so many ways. Thank you for making a wonderful night a little bit brighter.”

This morning when I logged in to Facebook I saw this had been posted by my BFF…

be kinder

It reminded me of you. You were kinder than necessary to a group of total strangers, I hope you know you that your kindness won’t be soon forgotten. Thank you.

Fragile X and fragile hope.

Fragile X and fragile hope.

Melissa

Bonnie over at The Fragile X Files shared an article from the Seattle Times, The mining of rare diseases, and her thoughts about it. I have so many thoughts right now that I am having trouble teasing them apart. I guess I can start here, with this from her blog post:

But we, the parents of children with rare diseases, have no other option but to trust the drug companies, the doctors working for them, and the trial results we are presented with.  We are constantly shown how far medical research has come in the past couple of decades, how much more we know about the body and how it works, and how it gives us real hope for our kids’ futures.  We grab that dangling vine of hope and scramble to ascend it, to save our kids.

I’m starting to feel a little duped.  They don’t really know that much about these drugs before they start advertising how miraculous they are going to be.   It sounds like they are just telling us what we need to hear, so that we’ll get excited and desperate and raise funds and pay them to do the research.

And that gets us parents working on fundraising, doesn’t it?  The drug company says the only thing standing between our children and their good health is money.  If only we can make it.

So we work our butts off holding fundraiser after fundraiser.  So they can perform clinical tests and work toward FDA approval, as fast as possible, because our children are running out of time.

Read the rest of her blog here: The Orphan Drug Act and Exploitation by Drug Companies

Are we willing to give up the many years of safety testing to get drugs to the market cheaper and faster? SURE! Until one of our kids is injured or dies because of an unsafe medication and then how dare the drug company rush this to market without proper safety testing?

Are we willing change how the FDA measures effectiveness to get drugs to the market cheaper and faster? SURE! Until we find out the drug was no better than a placebo and we just wasted months or years on an ineffective treatment and then how dare the drug company rush this to market without proof it works?

Are we willing to change how prices of these drugs are set? SURE! Until companies, who are by law required to act in the best interests of their SHAREHOLDERS, decide to pass on promising treatments because it won’t be profitable enough and then how dare the drug company only be in it for the money?

It’s this last scenario that sank Seaside. Roche made a business decision to not sink additional money into a promising drug because it was never, not ever, going to be profitable. They chose instead to pursue their other compounds with similar or better results that would allow them to make money. There was never going to be a 7 year period of exclusivity on STX209 because it was derived from a compound that already exists in generic form…getting it approved for fragile X and/or autism would not have changed that. What would have SAVED this drug WOULD have been big dollar signs in the eyes of the company. Those other “novel” compounds that Roche is pursuing WILL have that 7 year period of exclusivity attached, they do have the possibility of big dollars, and those compounds are still being funded.

So we do have other options as parents. As I said in my post Balancing Hope, you can choose to “go in with your eyes open and your hopes realistic.” I know miracles are sexier but as we have experienced, the likelihood of getting your miracle is too low and the cost of expecting one is too high. We, as parents, should want safe, effective treatments for our kids. You only get safe, effective treatments with years and years of research. Years and years of research costs lots of money. You need to make lots and lots of money to spend lots of money.

When we lose sight of this reality and begin expecting cheap and fast miracles, we are only duping ourselves, IMO.

Time for a new story?

Time for a new story?

Melissa

Earlier this week, John Robison resigned his roles on the Science and Treatment Boards of Autism Speaks. You can read the full resignation letter here.

John has autism. One particular paragraph in the letter grabbed me, I’ve read it over and over. In stray moments since Wednesday I’ve stopped to think about it, and it’s increasingly hurting my heart.

“I have tried to help Autism Speaks staffers understand how destructive its messages have been to the psyches of autistic people. We do not like hearing that we are defective or diseased. We do not like hearing that we are part of an epidemic. We are not problems for our parents or society, or genes to be eliminated. We are people.”

Ouch.

I am wondering, how many times has Caleb heard Eric or I talking about fragile X and internalized it? We know he is always listening, so how many times has he heard us describe the characteristics and felt…defined…by it? He understands much more than he can express, so how can we ever truly know?

You can look at me and see how much I love him and I know that he knows that I love him…but that doesn’t mean I haven’t hurt him. I am wondering, does he think there is something “wrong” with him? Does he think he’s anything less than perfect in our eyes? Does he think that he is fragile X? Does he know the difference between “being” fragile X and having fragile X?

I know the internal dialogue that I want him to have. That he is unique. That some things are harder for him, but everyone has something that is harder for them. That he is funny and fun and people like him, a lot. That lots of people love him. That he can do amazing things.

But is that the story I’ve been telling him? I’m afraid it might not be. I’m not sure yet how to do it but I need him to help me write a new story for us…one that will give him the inner voice he deserves. One that conveys all that he is because he is so very much more than just a boy with fragile x…

And so it begins…

And so it begins…

Melissa

Over the weekend, Eric and I were in Connecticut for the 6th Annual Fragile X Conference sponsored by The Fragile X Society of Connecticut. While we were selling t-shirts, hugging new friends and old and learning a ton…this happened.

And this morning we watched bits of Charlie Brown, The Grinch and Frosty the Snowman.

Someone is ready for Christmas! Our Toys R Us catalog hasn’t arrived yet but I suspect it will be greeted with joy. Me…I’m plotting elf hijinks. Yay!

There was no Halloween miracle.

There was no Halloween miracle.

Melissa

Every November 1st I say that I won’t do this again and every October my brain short circuits and my need to give Caleb all the same experiences as other kids kicks in. I start plotting…just a *little* something costume-ish without him being aware that it’s a costume…surely that will work! And every single year I fail. Every single year my *little something* turns into…more…

It came out awesome…but the most awesome part was…

  1. He said “trick or treat” to me and held out his bucket for candy.
  2. He put the costume ON (no photos, you’ll have to trust me.)
  3. He left the house in his costume (we made it to the end of our driveway.)
  4. Two neighbors came to him to offer him candy which he was happy to accept.

I’m reminding myself this morning that in this fragile X life, we celebrate inchstones…and last night was definitely that.

This morning, in true Caleb fashion, when we asked him about last night he was way more excited to talk about it after the fact than he had been to participate. Today he will be telling anyone who asks that he was “a MINION!” And he said “trick or treats” and he got candy.

He has clearly stored this as another happy memory and, ultimately, that’s worth way more to me than any amount of money.

Grampy Travers

Grampy Travers

Melissa

It’s been more than a month since Grampy passed. The house feels so empty without him…and I can’t seem to write anything else while this is here in my draft folder. Caleb talks about him every single day.

****

About 10 1/2 years ago, Eric and I moved in together…into a two family home owned and occupied by his grandfather. I really wasn’t sure how I felt about Eric’s grandfather living downstairs. I’m not a big people person. I’m a little bit…OK, maybe a lot…anxious and I value my privacy. I had visions of his grandfather, who insisted on calling me Matilda, wandering in and out as he pleased. Also, he wasn’t excited that I had two dogs…if he didn’t like dogs. He was not going to be my kind of people.

We managed to settle into a comfortable routine, however. We had our lives and he had his. We lived upstairs from him but could go days without seeing him, we were all busy. He was there but not there too much, I hope he felt the same about us. We tried to be useful and respectful, it had been his home for a long time and we didn’t want to invade it.

We continued this way up until a couple years ago then, gradually, Grampy needed more and more help. We’d clean his car off after a storm and we took over getting the trash out, landscaping (except for mowing…the lawn guy kept that chore!) and any maintenance projects Eric felt comfortable tackling. It was a subtle shift and we said over and over again how glad we were to be here to do these things for him.

In the past year, however, Grampy grew to depend on Eric, in particular, more and more. He took over driving Grampy to his appointments, grocery shopping and eventually…after a near miss with the gas stove…the cooking. People began telling him how lucky he was to have us. Mostly he agreed, although losing your independence isn’t easy and there were times he resented the way things would go. We tried very hard to respect his wishes but we drew some hard lines on safety issues which, as his strength declined, became more frequent. Losing his license was particularly hard for him. I think until that moment he assumed he would regain what he’d lost. I still remember the hurt look on his face when he told me that the state had revoked his license. All he wanted was to be able to drive to church and to the grocery store, he really didn’t understand why that would be a problem.

Since May, we’ve been primarily responsible for him. He had outside services coming in but those just allowed us to cope with the extra responsibilities. It didn’t really relieve us of any of them. We were still tied to the house, we didn’t leave him alone for longer than a few hours at a time between meals. There were times we wanted to do things that we couldn’t because Grampy needed the care. We never resented Grampy, though. We felt honored to be able to help him, to be able to pay him back for the support he’d given his family over the years. Plus, he just called out to something very maternal/paternal in us…he needed us and we needed to do for him.

People have a lot of different opinions of Grampy…we all had our own experiences with him…but I think I was the luckiest of all. I had nothing but images of him as a kindly old man, hardly bigger than an elf. Any time I described him it was as “this little, old Portuguese man…he’s SO cute!” Any temper he had when he was younger, and I’ve heard he had one, was largely gone. He always had a smile for me and he dearly loved Caleb. I don’t remember when it happened but at some point over the years Grampy began calling me “Meliss” instead of “Matilda” and, it turned out, I kind of missed it.

He also tolerated my dogs right up until we brought our new puppy, Tucker, home. Then Grampy decided he was a dog person after all. He just loved Tucker. As anyone who has met him knows, Tucker is not exactly falling over himself to make friends but he loved Grampy and would sneak down the stairs to visit as often as he could. He still sneaks down the stairs regularly. It turns out, Grampy truly was my kind of people.

I loved hearing his stories about growing up in East Cambridge, about his wife who I’d never had a chance to meet and his military experience. You could have knocked me over with a feather when he told me he was a Marine and fought in the Pacific during WW II. He had the most devilish look on his face when he told me that he was a “bad boy” back then and was sent to the Marines from the Navy as a result. I wish I had asked him what he did.  During the war he was a medic…just think for a second about the things he had to have seen when he was barely out of his teens. Then he brought his Purple Heart home, got married, bought a house, cared for his mother, raised a daughter and worked until retirement age for the US Postal Service.

These past few weeks have been incredibly hard on us but no matter how hard it got we never forgot that we were blessed to be able to care for him the way a war hero and family man deserved. We were blessed to love and be loved by him in life and we were blessed to be able to bear witness to his passing.

We know he was tired and long past ready to see his Helen again. At one point, last Monday night, when he was restless and waking off and on, I bent over him so he could see he wasn’t alone. His gaze flickered away from my face to a point over my shoulder and the smallest smile passed over his face. I can’t know for sure who or what he was seeing, but I have my suspicions and that’s what makes it a little more bearable to let him go…knowing that someone who loved him so completely was waiting.

Grampy,

We miss you more than we thought possible. Caleb has been wandering around your apartment talking to you, “Easy Grampy! Slowly…” I hope you can see the love he had for you in his need to be like you, even if that means using your walker. I’ll be sure to turn on a few Bruins games for him and tell him his Grampy used to play hockey, and won more than one fight against the big kids on the ice.

Godspeed, Grampy. We love you.

PS – Eric found the begonia identification tags you kept…we’ll do our very best to find the right ones for you and Helen in the spring.