Advice

I started writing this blog because when Abby was first diagnosed I was lost. We were told the rarity of this diagnosis and basically told 'good luck' finding any information let alone other families living with Rhombencephalosysnapsis. So there I was. With this baby who I didn't know if she would ever walk or talk, her twin sister and a diagnosis I couldn't even pronounce. The coming months and years would show me just how wrong the doctors were (and continue to be). First there are other families out there. I have found so many wonderful families living with RS just like us. We share stories and we hold each others hands through appointments. We share things that our doctors would never know. We are a family. They were also wrong about my girl. She walks! She talks! She sasses and makes a mess of her room and eats before prayers and gives me attitude. When she was a baby I would have paid any amount of money to know that the little helpless baby with crossed eyes and who flapped and shook her head would give me attitude and complain about her outfits.

So when I get posts like these: pseudopabloOctober 9, 2013 at 12:25 AM

Hi, we have an 8 month old son who was diagnosed with this when I was carrying him. When he was born he didn't seem to be showing any symptoms but now he's older things don't seem to add up with him, he has started head shaking its been going on for months and consultants, specialists, GPs don't know what it is ? He also has bouts of screaming, we were hoping for some advice from someone who lives rhombencephalosynapsis just as we do. Thank you
Natalie

I want to cry. (Pseudopablo... please don't feel uncomfortable. We've all had this moment of feeling along and isolated.) When I think back on how isolated, afraid, anxious, sad, frustrated and confused I was I just want to cry for my old self. I want to throw my arms around myself and parents new to the diagnosis and tell them IT WILL BE OKAY. IT WILL BE HARD BUT IT WILL BE SOOOOOOO MUCH BETTER THAN YOU THINK IT WILLL. You are going to be shocked how capable you and your baby are. 

Our kiddo's are oddballs. They flap their arms, spin in circles, cross their eyes, roll their heads, scream and cry for no reason and so many other things. Eventually we become pretty accustomed to these things. It doesn't seem like that's possible but it is. 

So here is my advice to you and any newly diagnosed RS family:

1. E-mail me personally so I can hook you up with the RS groups and you can connect with the other parents (my e-mail is in my profile). 

2. Educate yourself. I realized early on that in any room I was going to be the foremost expert on RS. Even when in the presence of doctors. Learn to be the expert and be verbal. 

3. Your child is going to amaze you. If you are willing to go the extra mile you are going to be stunned. 

4. Get a team in place now. The most important players on our team at that age were Early Intervention (OT and PT), Neurology (and keep going until you find one you like, Social work (ours was through EI and she was awesome), ophthalmology (our kids have a lot of eye issues), and a good parents of special needs kids group. 

I am here to answer any questions you have and if I had your e-mail I definitely would contact you directly. Just know that you are not alone!!!

Posted by Kristen Fescoe