Baby blog

It's a baby blog! A clever double meaning -- a baby blog because it is a brand new blog and a baby blog because it is pretty much about my babies! :-)

I've decided to start this blog to capture the story of my family's adventures with Beals Syndrome.

I am also hoping that other folks and families who have Beals Syndrome may do an online search for "Beals Syndrome" and stumble upon this blog, giving us a chance to connect, share information, and learn from each other.

So what exactly is Beals Syndrome? Well, a google search will yield several hits that can begin to answer that question. But as you follow those links you will quickly discover contradicting information out there. What is fact and what is fiction? Well I am by no means a doctor so I can't tell you! I honestly don't know. I can only share the story of how Beals has manifested itself in our family.

Beals Syndrome is just that... a syndrome. And as such, it has built-in variation. It is a collection of symptoms. You don't have to have all of them to be diagnosed with Beals. And you can have many of them and NOT have Beals. You can line up a whole slew of people diagnosed with Beals Syndrome and each one could look very different from the next. Even amidst our own family, we have a variation of symptoms and severity. But there are some commonly agreed upon characteristics of Beals Syndrome.

Some of those characteristics include: long arms, long legs, long fingers, and long toes; a long and lean body build; contractures (tightness) of the joints including the thumbs, shoulders, elbows, hips, knees and ankles; crumpled ears; scoliosis, curved chest bones (either curving in or out); and some congenital heart defects.

In our own family of six, four of us have Beals Syndrome. My husband, our 6 year old daughter, our 2.5 year old son, and our infant son, age six weeks, each have Beals. We have another son, age 4.5 years, who does not have Beals and I do not have Beals.

In our family, Beals began with my husband. He is the "mutant" as I like to tease him (lovingly!). What I mean is that neither his mom nor his dad have Beals Syndrome. He did not inherit it from them. Instead, one of his genes (gene FBN2 to be exact) mutated all on its own accord. If you tweak that particular gene you get Beals Syndrome (also known as Congenital Contractural Arachnodactyly or CCA for short).

Beals is an "autosomal dominant" syndrome meaning that each time a person with Beals has a child, he or she has a 50/50 shot at passing it down to his/her child, regardless of whether his/her mate has Beals. And that's about the extent of my medical knowledge in the wondrous field of genetics.

So, a little family tree/history/geneology business here...

First there is Mom and Pops (that's what we call them).
Neither have Beals.
It's the early 70s.
They have some "fun" together and...
Nine months later Mom gives birth to a bouncing baby boy.
Except something isn't quite right.
16 months later, a doctor says, "By George, I've got it! This child has Beals Syndrome!"
Say wha???
Baby Boy begins to walk at 13 months, plays soccer, does well in school, and grows up pretty much like any other kid.
Phew!

Fast forward... Baby Boy is now a 20-something.
Boy meets girl (that's me).
Wedding bells ring.
We go have some of our own fun...
Several months later we visit Mom and Pops for the holidays with me proudly sporting a small "bump" under my maternity clothes.
Mom hands me a HUGE stack of papers. It is Baby Boy's medical files. She gives it to me just because she thought I'd like to learn more about my husband when he was a little boy now that we are expecting a child of our own.
So we sift through the pile.
We read.
We read words like "autosomal dominant" and "genetic."
My eyes get bigger and bigger.
And then I FREAK OUT.
Say wha??
What is Beals Syndrome? It's genetic?? Our baby could have it??
Proceed straight to OB's office.
Beals? Never heard of it. Let's send you to this doctor instead.
Yup. Beals. Your baby could have it or could not have it. Can't tell you until baby is born.
Several months later I give birth to our beautiful baby girl.
Except something isn't quite right.
Beals strikes again.

Fast forward 11 months.
More fun!
Nine months later I give birth to a bouncing baby boy.
No Beals!
Yay!

Fast forward 14 months.
Yep - you guessed. More fun!
Nine months later I give birth to a second bouncing baby boy.
Except something isn't quite right.
Beals strikes a third time.

Fast forward 20 months.
More excellent fun!
This time we say, "Oh, let's get a 3D ultrasound and then we can know ahead of time if Beals has struck again!"
So we visit the perinatologist.
Who has the coolest ultrasound machine ever. He says it is known as the "Cadillac" of ultrasound machines. It's amazing.
A baby boy for sure! Baby Boy looks SOOO healthy. Not a sign of Beals to be found. Nice, round little ear. Arms and legs measuring right on schedule. Heart looks perfect. And he even held his thumb out of his palm -- no contracted thumb.
Breathe easy for a few more months.
And then I give birth to a third bouncing baby boy.
Except something isn't quite right.
Beals has struck again (much to our surprise).

So that is how we have gotten where we are today. In upcoming posts I will travel down memory lane some more and share more details about my husband's experiences with Beals growing up and how it effects him today, as well as how Beals has effected each of our children so far over the past six years.

And once I've got all that done, I will continue to post updates as we go along. I hope by documenting this journey it will prove helpful to those out there who have Beals Syndrome or who have a family member or friend with Beals. Since Beals has only been known about for a few decades and because it is so rare, there just isn't a whole lot of research out there. There aren't a lot of stories out there.

So I'm putting our story out there. I hope it will be helpful to some. If anything, I hope that our children will benefit from having it documented for them, especially as they grow and have children of their own someday.