They took the plunge!

The first annual Fescoe Family Polar Bear Plunge for RES Warriors was a huge success.

You can check out the Facebook Live video HERE.


It was FREEZING cold at home on the day of the plunge, but when we stepped out of the car at the beach it felt ten degrees colder.










Full disclosure I wondered if maybe it wasn't the smartest idea. But Brian, Will and Grace along with our dear friends Micah and Ross braved their way towards the water. There was some milling around and nerves but they it was time.














They counted down and off they went. There was plenty of cheering, laughter and love.

What a day!

We raised $1,325 for our friends at the University of Washington who are doing great research on Rhombencephalosynapsis.

Experts Everywhere?

Since Abby was born we have done our best to surround ourselves with the best people to treat her. The best doctors, the best therapists, the best teachers, etc. Nothing but the best. In all that time we really never came across an expert in dealing with Rhombencephalosynapsis. The smartest of our "tribe" realized that the closest to an expert on RS was the parent. As a parent of a child with a rare disorder you spend hours and hours and hours (or at least I do... OCD much? ;D) doing research, reading the limited literature and connecting with anyone who knows anything about RS.

One of the things that has driven me the most insane are the people who act as if they are some sort of expert on a rare disorder. As if reading two studies about the diagnosis make on an expert...

We have come across way too many of these supposed "experts". They are usually quick to share their (ill wanted) "advice". They often berate you for decisions you have made. They feel as if there are a number of things you should or should not be doing.

Last week I went for an ultrasound of this baby and I came across a rare mix of the two. A doctor who entered our room telling us that he had "the answer" to what was "wrong with Abby". He announced that she probably has Dandy Walker Syndrome. I smiled, assured him that this diagnosis had been ruled out by her neurogeneticist and tried to move on. I think he felt a little foolish so he began to back track but asserting that the only true expert in the room was me.

Thankfully he was wise enough not to push the issue (like so many have done). It just gets tiring. Until the day comes when someone actually has light to shed on RS I wish people would just leave the parents be the "experts".

Where is her walk-a-thon

Every time I check out at the local grocery I am asked the same question. "Would you like to donate to help children with special needs?" Every time I am asked this question my mind goes. I want to say "I am, every single day when I have to buy the new therapy equipment or pay for the latest specialist visit." Or "yes, but will my special needs child be helped?"

What I do say is "sure" and pull off my $3 tag to help Saint Jude or Jerry's Kids or whatever their charity of the month is. I leave the store feeling crappy because I know I shouldn't feel so resentful about giving but I do. I can't help it.

When I browse the internet doing research about RS or venticulomegalies or posterior corpus callosum hypoplasia I am met with site after site collecting money for CP or Downs or Juvenile Diabetes or another commonly known disease or disorder. And every link to collect your money or sign you up for a walk-a-thon or whatever else is out there makes me feel sad.

Where is Abby's walk-a-thon? Where do I click to donate money to RS research? Who will help her when she's older and has medical needs and I can't help her? What organization is going to help her afford the assistive equipment or dog or whatever she will need?

It is one of the most challenging parts of having a child with a rare diagnosis. The research is limited. The information about prognosis is limited. And the help is limited.

We will never know what causes RS... at least not in our lifetime. There is only one study being conducted on RS and it is so poorly funded that it is going nowhere. It isn't even focusing specifically on RS because the scope is too limited. We are struggling with whether or not to even bother participating. Basically if we do it will be AT OUR EXPENSE. Like financing her care isn't expensive enough.

I guess we will only ever get answers by living it and experiencing it. I can live with that. I wish I had more hopeful literature to read that would answer some of our questions about her future. But instead we will have to be patient and see what life brings.

Research Study

I was approached in the past about a research study regarding Abby's diagnosis. I was very excited to hear about such research and I looked into it. What I found out was that the primary focus of the research is a syndrome associated with RS that Abby does not have. The research could eventually gravitate to something relevant to us but it wouldn't be for a long time. I explained that while I was okay with simple chart reviews or medical history information I was not willing to subject her to any more tests or anything. This seemed fair.

They sent me a kit to collect saliva from the girls and blood from Brian and I. Unfortunately it was up to us to figure out how to collect it and send it back... seemed like a lot of work. So, I kind of let it go. Until this week when the head of the research study called. He just wanted to follow up and see where we are at. I know it isn't a big deal but when I think about the cost - benefit ratio it isn't that great for us. We can take some effort to further research that likely won't do a darn bit of good for Abby. Is it worth it? Should we put in the effort? Right now we have a lot on our plate. We feel in a little over our heads so we are just trying to let things like this simmer on the back burner.

I do feel like I owe it to the researcher to tell him we're in or out.

To participate or not?

Last year I found out about a research study that is being conducted to gather information about the causes of RS. I contacted the doctor conducting the study but it never really went anywhere. I didn't pursue it but this past week the study has resurfaced. The doctor conducting the study is moving to a new hospital and will be looking for participants. What they would need from us is blood samples from the girls, Brian and myself. They would also want to see her MRI results and paperwork about her condition. I don't love the idea of submitting both girls for blood tests. Brian and I had decided that if her old data would help with research we would submit it but we didn't want her to have to go through any more testing for the sake of research.

But is this selfish? What if one needle stick could help in the future? What if they knew what genetic mutation caused RS? Wouldn't I want to help further this research?

I wish it was an easy answer. The second part of the problem is that the data they are collecting immediately is to first isolate the cause of a syndrome called Gomez-Lopez_Hernandez Syndrom (which is often associate with RS). They will be looking for the cause of GLH Syndrome before the focus on the causes of RS. So any data could be years and years and years away if ever.

What to do, what to do?

Interesting study

Go HERE to read about a study with a man diagnosed with RS for the first time at 55. The great news is that the guy has a totally normal life!