Friday, October 3, 2014

Itty Bitty

When Abby was born she weighed a mere four pounds and fourteen ounces. She was so small.


I had never held a baby quite as small as she was. As she got older we quickly realized that she would remain  small. She was never on any of the traditional growth charts.


Thankfully our pediatrician was satisfied with watching her grow along her own curve. She was sent to endocrine twice "just to be sure" but everything was seemingly normal.


Over the past seven plus years she has continued to grow at her own rate. Because she is a twin it was always somewhat evident how little she really was. At 7 she weighs just under 40 pounds. Her sister has a good 12 pound advantage and is about 3 inches taller.


Today as I folding laundry something dawned on me. Many of her skirts, shorts, capris and pants are 2-3T. Her waist is so small that we struggle to find pants that will stay up, even stretchy pants. Anyway, as I was folding laundry it occurred to me that my seven year old daughter and two year old son wear the SAME SIZE PANTS! Guess that outlines just how tiny she is.



Friday, May 16, 2014

Blueberries, check!

Food challenge number two was a whopping success. On Wednesday morning we had to be at CHOP by 7:30. Thankfully Abby is so cooperative about the restrictions (only clear fluids after midnight). We were early so we got checked in second. This also meant that we got a bed next to the window!


The test was started around 8:30 and she loved the blueberries immediately. The nurse and I thought things were going south when her stomach started to ache but it turned out she was just hungry. Her last challenge (pecans) yielded some itching of her tongue and face. This challenge came with NO SYMPTOMS!


So, now she can add blueberries to her safe list. The next challenge will be in July and that one will be walnuts.
I am so thankful and fortunate that despite all of these years of tests, appointments, surgery, etc. she remains the worlds best patient!











Monday, May 5, 2014

She got her dog!

After a very lousy first experience we have finally been matched with a dog for Abby. 


He is a two year old Golden Lab and his name is Wisdom. 


He is a very sweet dog and a great listener. Abby has been somewhat apprehensive about him but it will take time to bond. 

He adores the kids so he's a keeper. 








Wednesday, April 30, 2014

As we head up the hill

Life with Rhombencephalosynapsis is a lot like riding a roller coaster. You have your ups and your downs but you also have a of those moments where you are neither up or down... just coasting. For the past few months we have been coasting. We had the chiari / pappilodema scare earlier this year. When that passed we had a nice quiet lull.

There was some bloodwork and tests mixed in, but nothing major.



Now it seems we are climbing the hill. A recent dental visit showed that Abby Girl has an abscess above a dead tooth. Years ago Abs fell off of our wooden kitchen bench and landed on her tooth. That killed the nerve in the tooth. Since then the tooth has been black but otherwise fine. Now it seems she has developed an abcess above that tooth. She also has developed several large cavities due to her lack of enamel (she has weak enamel, thin hair and thin nails). They need to pull the tooth, drain the abscess and put pediatric crowns on the three teeth. With that much work she needs to be anesthetized. So on to surgery.

PLUS, her allergist wants to do food challenges for a couple of her allergies. Each one must be tested independently so that means two separate trips to the day medical center at CHOP for a full day of testing.

Thankfully she is the worlds toughest kid. She hears surgery and days at the hospital and she responds with "I can handle it" or "Mom, we can spend the day together." Part of me loves that attitude and part of me hates that her life has involved so much "doctoring" that these things are normal to her.

I guess we have not choice but to take the good with the bad.

FYI - Surgery is June 26th, First food challenge is May 14th and Second food challenge is waiting to be scheduled. Hopefully we can put off until July.

Tuesday, April 15, 2014

Endocrine, Track, Dental Surgery, oh my!

Sorry for the lag in posts of late. I got a new writing job (working from home still) so life has been crazier than normal. Despite the insanity of work there are plenty of fun things going on in our household. Abby has decided that reading at a 1st grade level is for the birds. She went through the 2nd  and 3rd grade levels and her work is matching a 4th grade level. He teachers don't even know what to do with her in reading. She is now analyzing articles. (That's my girl!)

I finally got her in for the panel of tests the endocrinologist ordered for her "small stature". It was a pain in the neck because we had to get an appointment for 8 o'clock on the nose.



Sister was amazing, laughing through the whole thing. We got the results and everything was NORMAL!

The girls have both started a new track season. Grace is off to an amazing start but my Abby girl is struggling a little more.


I think her small size and balance issues are starting to catch up a little. She has gotten all 4ths, 5ths and 6ths (often out of 4, 5 or 6) but its been tough. She is still pushing herself and keeping a smile on her beautiful face.


We saw a new pediatric dentist for her cavities (by the way, thank you RS for the weak nails, hair and tooth enamel) and dead tooth.


She fell about two years ago and hit a wooden bench with her front tooth. It's been dead even since and they found an abssess above it at her last dental visit. The pediatric dentist was not too happy about any of it. So now sister has to have surgery to remove the tooth, fill the cavities and put pediatric crowns (not the same as grown up crowns, I assure you... hours of research... but I digress) on her tiny teeth filled with mega cavities. I didn't anticipate needing surgery for this one but welcome to our life. Thank God she remains a rock start about the whole damn thing. The dentist says surgery and she smiles and says "It's okay, I'm used to it".


And lastly... we are getting a dog. More to come on that!



I also wanted to share again how grateful I am for this blog. I have met two new RS families in just the past few weeks. The fact that a simple blog can give information to families who need it reminds me that we RS families are not alone!

Thursday, March 27, 2014

A Step Towards Growing Up

Written by Heidi:

We finally have Ethan involved in extra activities OTHER then doctor appointments and therapy. Its been laying heavy on me not signing him up for anything but with an older child already involved in a few activities, juggling Ethans "extras" and work I've sort of put it off. Can we say GUILT!

It (the dreaded mother guilt we all can attest to) was really settling in as he is now seven and half and our older child was in swimming at age 1. So scouting has become our life over the past few weeks. Travis, our older son, has been in scouts since he was in the 2nd grade but as a Boy Scout, I don't have to hold his hand nearly as much, so I felt very compelled to at least do the same for Ethan. Its been great to see him with peers and to not Forget that he CAN be just a little boy. A boy who can run and jump, salute and share with other boys the excitement of being a team.
It sets my heart with a warmth that makes me feel like I'm not doing that bad of a job at this parenting thing.

Friday, February 28, 2014

Rare Disease Day

Rare Disease Day - February 28, 2014

February 28th marks the seventh annual Rare Disease Day. As a parent of a child living with a rare condition we know how challenging a rare diagnosis is. There are thousands of families who have children living with special needs. While some have a good idea of why, what the future is likely to hold and what might be their childs future, some do not. There is no body of literature compiled to look at adolescents, adults, child rearing, careers, etc. for individuals living with Rhombencephalosynapsis. 

So, instead the RS families live as a community supporting each other and sharing all the information we have. I am lucky to have this support system as well as my amazing family and friends.  


Thanks to Kelly and Jeff for creating this beautiful way to honor our RS kiddo's today!!!

Saturday, February 22, 2014

Realizations

As Jack progresses through various stages of infancy and toddlerhood it has been remarkable how different our parenting experience has been. Instead of worrying about scheduling surgery or losing weight or finding the right therapist we worry about him falling when he runs too fast, whether his shoes still fit and when we can fit in a haircut. "Normal" stuff.

Brian and I also find ourselves asking "did we ever get to really enjoy it with the girls". I first I felt guilt for even thinking it. Of course I adored the girls so much but I think I spent so much time worrying and stressing that I barely ever sat down and just enjoyed them being in certain stages.

The more I sit back and think about it the more I get angry. Angry that RS took that from us. Angry that RS made us less present parents for our girls. Angry that I could have been more fun, engaging, energetic and creative had I not been worried about all the other crap.

Fortunately I am not one to dwell too much on the past. And all I can do at this point is never let RS steal another minute from my daughter or my family.

Wednesday, January 15, 2014

A time to twirl

For many kids with RS, spinning is a part of their life. They spin when they stand still. They spin as they walk. They spin when they sit on the floor. Like a tiny little top. Abby is one of those children. The girl needs to spin in order to regulate her body (at least that's how I understand her explanations). I don't mind her spinning but we do try to keep it to a minimum at school so she doesn't distract others.

We have tried MANY therapies and strategies to get the spinning under control but have had little success. While I wish this post was written to outline a strategy that worked, it isn't. :D Instead I am happy to say we found a place where she can spin and whirl and turn and twirl until her little heart (and brains) content.


She is the twirliest, most accomplished spinner in the entire ballet class!

Sunday, January 12, 2014

She's disabled?

As a parent of a child with Rhombecephalosysnapsis I find myself doing one of two things (more often that I would like to admit): 1) explaining why my child is "normal" and just like everyone else or 2) explaining why my child is disabled.

You see, RS is a funny thing. Unlike many other disorders if you look at a person with RS they often look close enough to "normal"  that you wouldn't take notice immediately. There are some visible issues at first glance. The bald patches. The tiny stature. The odd body makeup. The large head. But it isn't grossly different than a typical person.

It often isn't until they take that first big spill or start spinning or flapping that people around you realize there is something different. The frustration is that in my experience half of the people I encounter want to sell me the line of "but she looks so normal". At first I used to take this as a compliment (and from the right person, I still do.) But in some cases it is as if they are accusing you of making up a fictitious disorder. You find yourself explaining the disorder and what goes along with it.

On the other hand I also come across plenty of people who see her big head, tiny body, spinning around, flapping hands, etc. and look at her like she has rabies. To those people I want to scream "She's a normal little girl".

Yes, I do realize how much I am countering myself. And yes, I am talking out of both sides of my mouth. So, you ask, what DO I want? I think what I want is the same as any mom of a child with disabilities. I want people to ask questions (politely), gather information, get informed and then treat her like any other kid. Don't minimize the past six plus years and all of the hard work and time we have put into getting her where she is. Don't treat her like she is an oddity either.

I think all parents of special kids just want a little curiosity and a lot of acceptance.