A New Diagnosis for Abby

Abigail has a new diagnosis after a 3 hour genetics appointment late last month. We were referred to genetics at Hopkins by her orthopedic and the NICU follow-up team.

My family has a history of a connective tissue disease called Ehlers-Danlos syndrome (EDS). I have it, my mom has it, my brother... you get the idea.

EDS affects connective tissue, skin, joints, and blood vessel walls. People with EDS also have a defect with the collagen they produce. There are 6 types and my family has the Classical type.

As many of you know Abigail still receives physical and occupation therapy several times throughout the month. She struggles with weak muscle tone and hypermobility.  She requires the use of orthotics in her shoes to give her the extra support she needs to walk and run.  Since I have a long family history of EDS her orthopedic along with the NICU follow-up team wanted to investigate if her weak muscle tone was just a "preemie thing" or something more. We were referred to genetics and after several months of waiting, we finally got an appointment. 

To determine if someone has EDS the doctor has to do a detailed physical examination. Doctors will look for the following characteristics:

-soft skin

-easy bruising

-smooth skin

-joint hypermobility

-skin hyperextensibility 

-joint instability 

With this new diagnosis of EDS her doctors can come up with the right treatment plan for her. Abby does have GI issues which is common in people with EDS. Her GI doctor has already changed her medical plan for Abby. 

5 Days Down... Several More To Go

We are officially 5 days into therapy. Elizabeth is such a trooper. She does everything her therapists ask her to do. She has been busy coloring, looking at books, blowing bubbles, pushing a baby stroller, completing puzzles, and playing with stickers and toys.

Her first few days were a challenge because she was frustrated with the idea of eating with her left hand. She was very upset at first, but today I am happy to report that today with help from the occupational therapist she ate some bites with her left hand. It literally brought tears to my eyes. 

This therapy is a big sacrifice. I have to miss work. We both have to be away from Abigail and Dan. Liz often asks me about "sissy." I know they miss each other. Dan reports Abigail will ask about her sissy too. Even though it's a big sacrifice it has already been worth it. I am seeing her do stuff with her left hand that I couldn't have even imagined. I'm so proud of her! 

I am also happy to report that we are now staying in the Children's House. It is very similar to Ronald McDonald House. You can check on and see where we are staying here: 

believeintomorrow.org 

Cast

Elizabeth officially has her cast. She got fitted yesterday and today was the first full day she had to wear it.

She was a little upset this morning when they first put on the cast. Despite being a little upset in the beginning, she went on to have a really good first day of 3 hour therapy. They even had a Wiggles book that she really liked. Her therapist were pleased with her efforts and so was I. She worked really hard. She will have OT and PT sessions during the 3 hours. 

Her goals will be:

-Grab/pick up an item 

-Release an item 

-Use two hands to look at books and to play with other toys

-Use two hands to lift something like a large ball

The hardest part so far has been eating. With the cast on she needs help and she isn't very happy about that since she is so independent. She also keeps looking at the cast a little confused. I just keep telling her it has to stay on. 

Look!!!! I'm using my left hand! :)

Good News/ Bad News

So bad news first...

Our home away from home- Ronald McDonald House is currently full. We are on a waiting list.  These are words that I hated to hear. 

More bad news-

Every hotel we can get into with a discounted rate through Ronald McDonald House is full because of a convention in the city. 

And get this, it's a Gravel convention. 

Yes, gravel. All I can really say about that is- Rock on gravel convention. 

After some serious worry about what we were going to do, we finally got some good news.

Good News....

We got into a place called the Philoxenia House. it is an apartment owned by a nonprofit organization associated with the Greek church. The apartment is available for families who are receiving medical treatment from one of the local hospitals in Baltimore.

I had no idea that this place even existed. Our preemie journey keeps taking us in directions I could have never imagined.  We have no idea what to expect. We haven't even seen what it looks like inside, but everything always seems to work. We just keep the faith.  

Meanwhile we are still on the waiting list at Ronald McDonald House.

Elizabeth's 4 weeks of therapy starts Tuesday and we can move into the Philoxenia House Monday late afternoon.

Wish us luck!

Constraint Therapy is just around the corner

Elizabeth will be starting another round of intensive therapy at Kennedy Krieger on Tuesday. The program is called The Intensive Pediatric Constraint Induced Movement Therapy Program. Fancy name right?!

Elizabeth’s Physical Medicine doctor and Orthopedic really encouraged us to do the program again. It was explained to us that she will most likely need this therapy every year. 

The therapy program is an intensive 23 day program. She will start this round on March 17 and it will go until April 16th. I will have to take her to Kennedy Krieger every day for a 3 hour session. Yes, 3 hours! I have to admit I am terrified. Last years program was only 1 hour a day, so this is a big change. 

Her right arm will be castes past her elbow so there will be no way she can use it. She isn't going to be very happy about that. The cast is waterproof and she will even get to do some of her therapy in the pool. 

With the cast on she will receive physical therapy and occupational therapy on her left arm. The program is designed to help the individual build up muscles in their weaker arm and hand. 

The cast was removable last year and it didn't have to stay on longer than 2 hours a day. This time the cast will stay on the whole 4 weeks, all day long. It is waterproof so she will be able to take a bath with it on.

It's going to be a very big adjustment for her, but we gotta go for it. Anything that will help we will try. Pray that we all can stay strong and the therapy is a success.

I am hoping to get into the Ronald McDonald House again. We still haven't heard if we got in or not.  I do not want to have to take her every day back and forth. It is a lot of driving and time spent in the car. It would be 3 hours of driving per day. That is 15 hours a week in the car! I really don’t want to have to put her through that. Pray we get it in friends! We will not know if they have an opening until  right before she starts.

This weekend I will be busy packing and getting ready. Wish us luck! 

I'll keep everyone posted on how it is going. 

Storyville Trip # 2

Saturday we took our 2nd trip to Storyville in Baltimore.

Storyville is located at 2 different public library locations in Baltimore County and it is designed for kids under 5. It is really awesome and the kids love it.  They can play for hours. 

We met up with our good friends Anna, and Nick. It was a really fun day. I can't wait until we can do it again. Thanks grandma for coming too!

Check our the pics. 

World Rare Disease Day

Feb. 28th is World Rare Disease Day. 

A rare disease is one that affects fewer than 200,000 Americans. There are nearly 7,000 such diseases affecting nearly 30 million Americans.

There are nearly 30 million Americans-and millions more around the world-affected by a rare disease. 

Cerebral Palsy (CP) is a rare disease. I continue to learn more and more about CP as the doctors appointments contiune. You never think that your child will be the one with a "rare disease" but to me Elizabeth is perfect. We will do whatever it takes to make her a wonderful life.