Happy happy HAPPY!

Wednesday morning started early for Haddie Mae and I. We packed up and hopped in the car well before the sun thought about rising. We made one stop on our way to pick up our very favorite road trip buddy Great Auntie K! Little did we know she had been up early too... baking muffins and getting diet cokes for our trip! She's amazing! We raced through traffic down 101 and arrived at UCLA to meet with Dr Julian Martinez. 

  He is Haddie Mae's geneticist that was recommended to us by another family in the BWS support group. We met him back in April and have seen him twice since then. In April, he ran a genetic microarray on Haddie. It told us two things. One, she did not test positively for any known genetic mutation that causes Beckwith -Wiedemann Syndrome. This was not shocking because not much is known about BWS. Up until this point she has only had a clinical diagnosis based on the fact that she shows enough characteristics of BWS. And two, she has a homozygousity(double copy) at Chromosone 6. Chromosone 6 has not been linked to BWS. 

  He had us come back in June to reveal those results. He explained that he felt there was more to Haddie Mae's genetic story and with our permission wanted to research it further. We then sent off blood from Dave and myself along with Haddie's. They sent it off for a test that would take 3 months to complete. The test was called a Whole Exom Sequence. 

  I got a phone call last week from Dr. Martinez's staff that was requesting an appointment with Haddie Mae. My heart fell through the floor. I knew it was going to be big news because they wouldn't explain it over the phone. So after a few sleepless nights I found myself driving to LA at 5am on Wednesday morning. 

  

We waited and waited and finally saw Dr. Martinez at 11 am. And this is what he told us. 

Dave and I are not related! What a relief! Haha just kidding! 

Haddie Mae does not in fact have Beckwith Wiedemann Syndrome!!!!!!!!!

Rather she has what is called Uniparental Disomy 6. Otherwise known as UPD 6. So instead of getting one Chromosone 6 from Mom and one Chromosone 6 from Dad... Dad's 6 rescued the missing Chromosone 6 from Mom. Make sense??? UPD 6 is known to have caused macroglossia. Although only 23 cases of UPD 6 have been reported.

And we thought this girl was one in 13,000! More like one in millions... lots of millions!

So what does this all mean... I will simplify it for you.

No more cancer risk!

No more routine ultrasounds!

No 6 week blood work!

No more worry!

Even though I am elated to share this news with our world it also seems a bit bittersweet. I feel guilty. For two years we have wrapped our hearts around every BWS baby we had come to know through our Facebook Support Group. I have cried for days when we lost one to cancer. I have cheered on every Mom who was going through the same things I did. It has become part of our family.  And now we are set free of worry and stress.

I am going to look at it like this is just the beginning of our journey. All of these amazing families have shaped our journey. Have carried us through our darkest days and I will continue to do that for all of them!

 

So Cal bound...

As I type I am sitting co-pilot traveling 101 South. To my right... miles and miles of gorgeous ocean views and to my left miles and miles of hilarious conversations with the Hubs. Behind me Koen is napping and Haddie Mae keeps looking out the window saying "Cool that" one of her many hilarious phrases lately. Her speech therapist loves it too:) This first half of our trip has me thinking how very lucky we are! Yes it's a total bummer to have to include a hospital visit but if we have to at least I am surrounded by all of God's glory along the way! 

Tomorrow HMae and I will wake up bright and early to make the 1.5 hour drive from Grandma's house to Children's Hospital Los Angeles. We check in at 8am and brace ourselves for 5-6 hours of poking and prodding by 8 different doctors. The good news is nothing will be invasive! No blood draws or scans! Hallelujah. Just a large team of doctors who will monitor all aspects of her growth and development. I am a little anxious I admit because this sweet girl is stronger than me and five guys put together! Hopefully she will be compliant. It's a long day for an almost two year old.

After that we are done for the week! We are going to shop and play and swim in Grandma's pool and celebrate Grandma's birthday! We are even planning to sneak in a family photo session with the amazing Corey Morgan of www.coreymorganphotography.com 

I can't wait!

We are still awaiting the results of the last blood test we did at UCLA.

We were thrilled with Dr. Martinez and his staff.

He believes there is a strong possibility that the genetic mutation Haddie has could be an undiscovered form of BWS.

Like I have said before this little girl has a way of showing us how lucky we are to be on this journey with her. She is rare. And we wouldn't have it any other way.

It could be months before we find out. The news wouldn't change too much except it may help the doctors better understand Beckwith-Wiedemann Syndrome.

And what's a post without a few photos!

We celebrated Papa's 2nd anniversary in Heaven by spending it with the people we love the most.

We also celebrated Shauna's new job as Principal! We are so proud of her we could burst!

We gave the new Principal a proper parking place... Hehe

A pretty girl with a pretty flower!

This little giraffe was made for HMae by Healing Helpers.

It has zippers in the same places that her surgeries occurred.

Complete with stitches on the organs to show the repair

We visited Mid- State Fair and said our goodbye's to the neighbor kids 4-H projects:(

Haddie will miss you Muzzy the cow. 

She loved the pigs! She even yanked a few of their curly tails!

Happy August to everyone! I hope you back to school days go smoothly! And your summer nights long and lovely.

Much love,

Melissa

A very busy June...

This coming week is nothing but busy for us! Looking at our calendar has me a little overwhelmed. The sad part is the calendar is chock-full of nothing but appointments. Most people spend summer vacationing, sleeping in, and chill-axing. I'm positive that someday soon we will be vacationing in Tahiti or surfing the shores of Hawaii or better yet embarking on an Alaskan hunting adventure but for now we will visit our devoted docs at CHLA and UCLA and sneak in some time with GMa in SoCal. 

Tomorrow we get the pleasure of meeting Lori. She is an Occupational Therapist that will be coming in to our home once a week to spend time with HMae. I couldn't be more excited about this meeting. I have heard amazing things about Miss Lori.  She comes with recommendation from our dear friend Tammy and her colleagues rave about her. 

Sadly, our Speech Therapist has decided to move on to working in the school system. We are happy for her new adventure and were truly blessed to have spent some time with her. She has helped Haddie tremendously. When she started working with her, Haddie could mudder Mama and Dada and the rest was a foreign language:) She now is speaking more clearly, recognizing letters and their sounds, and can communicate most of what she wants either through signs or words. 

We will return to UCLA to visit with Dr. Martinez in Genetics this week also. Results returned for Haddie's microarray and PTEN. Thank the good Lord PTEN was negative. The microarray for BWS was also negative which kinda sucks! I'll be honest. It would have been nice to have some piece of mind, a closed chapter, but instead we have to keep digging to find where, how and if BWS lies in Haddie's genetic makeup. As of now Haddie is only clinically diagnosed which means she has enough characteristics to show that she has BWS. The truth is they don't know everything about BWS and are learning more everyday. Even if we don't find an answer maybe our genetics results will help contribute later on. Dr. Martinez has asked the Hubs and I to also have our blood drawn as well as Haddie's again so that we can send them off for more testing. Her microarray also showed a homozygousity at chromosome 6 so our resuls may help figure out a little more.

After we meet with Dr. Martinez the following day will land us at CHLA for a VCUG procedure. A VCUG is a procedure where they insert a catheter then fill the bladder with a radiocontrast agent and then take X-rays as her bladder voids.  This can help determine if vesicoureteral reflux is occurring in Haddie's kidneys. This procedure was done once before when Haddie was one month old. I have to admit I am not looking forward to wrangling miss HMae to lie still for an X-ray surely she will not comply:/  It should make for an interesting day. Nurses and Doctors are always in shock when the witness her super toddler strength. She will also have an ultrasound following the VCUG. Wish us luck!

We will leave CHLA and head to GMas to spend the afternoon there. 

The following day we will end up in Santa Monica to meet with Dr. De Filippo who preformed Haddie's kidney surgery. It is just a follow up appointment where we will go over the results of all the testing. Then we are free to head home. 

Hopefully we will be able to sneak in some fun here and there. Otherwise these hospital trips become a little monotonous. 

I am so very grateful that The Hubs and Koen are coming along on this trip. I think it will be good for them to see what our hospital trips entail. Surely they think we shop the entire time and while they are not all wrong there is a lot of not fun stuff that happens that makes the shopping almost necessary.

I would love to know how your BWS kiddos are doing. Send me an email at mdkhughes@gmail.com.

Here are a few of my favorite pics recently.

This is Miss Shannon she is HMae's Early Interventionist.

Yes Koen is wearing a helmet, PJs and Aviators... He's 3:)

She eventually let him out.

We take carrots on our walk in the morning and feed all the horses. 

Showing Mama how to properly stop and smell the flowers.

Yes that's me with no makeup... scary I know:/

Making a Medical Binder

Soon after Haddie's diagnosis I realized how important it was to stay organized. You meet with so many different doctors, hospitals, therapists and nurses that it can be overwhelming at times keeping track of everything. I wanted to share with you how I stay sane through it all. Haddie's first medical binder after just a few months was bursting out of it's seams. It has since been upgraded to a three inch binder.

These are just a few ideas of what to put inside. 

- dividers

- calendar

- business card inserts

- pencil pouch

     - I keep one for pens and one for receipts (for tax record keeping)

- clear page inserts

- pictures of the the cutest baby in the world :)

     - include monthly pics if you have them

     - I also include pre-op and post-op TR pics

Other helpful things to include

- call log

- mileage log

- medical expense log

If you are anything like me your iPhone is your BFF. You can keep track of everything in that little thing but sometimes it's nice to have it down on paper too. Especially when visiting with a new doctor or on the phone scheduling appointments.

When we met with HMae's new geneticist at UCLA last month he was so happy to see pictures of her as she grew and was so thrilled to see her pre and post-op pics. One thing is for sure... our BWS kiddos are so unique and different that any doctor who is familiar with BWS would be pleased to be able to see such pictures.

I know how overwhelming it all can seem at first so I am hoping this will help make life a little easier.

Health UPDATE for HMae:

We are still awaiting the results from her bloodwork that was done at UCLA. They are doing further testing for BWS since as of now we have only a clinical diagnosis. Also Dr. Martinez is testing for pTEN so we will wait ever so patiently a little longer:/ 

Her latest AFP was 8.5 which is awesome!

We recently found out she has Sensory Processing Disorder which explains so much now. We are still learning how to help her with this but hoping to start OT soon. She has also started Speech Therapy. Overall she is doing great and is having too much fun with her big bro lately. They have become such a pair! 

Much love,

Melissa Hughes

A Failed Ultrasound Attempt...

We started our day unusually early today. I was awaken by a face staring at my face at 2am. I screamed, he screamed, he ran and continued to scream and hid in the corner of his room. After what seemed like an hour Koen was calmed down and back to sleep.
This was my first hint that today wasn't going to go as planned.
Haddie Mae graced us with her cheery presence just in time to head out the door to her ultrasound appointment. I love that no matter what she wakes up happy! She usually just hangs out in her crib, chattering her foreign language to all the stuffed animals in her room until one of us come in to get her. I scooped her up and out the door we went. She figured it out quickly and that's when the tables turned. No breakfast? What do you mean? All the way to the appointment she sat silently signing for milk and cereal!!! We checked in and she seemed cheery again. Lion King was playing in the waiting room and she was chatting and playing with Jenifer at the front desk.
My second hint for the day was that I had forgotten the doctors order for the ultrasound! Hello MOM brain!
They were sweet about it and said I could bring it by later or have Doc fax it over.
It was a different tech this time. We have had the same tech the last two times so I'm wondering if this is where we lost all hope of getting pictures today. While she was patient and understanding I don't think a chocolate dipped iced cream covered in sprinkles covered in lollipops set atop a sparkly pink ice cream cone would have done the trick today. As a matter of fact. I came prepared. I had a bottle ready, a lollipop in my pocket, my iPhone preloaded with an unprecedented Barney episode, and big brother nearby holding her favorite Bunny. And we still failed. I'm talking exorcist style, head spinning, blue faced screaming, strong willed- adorable toddler. I mean seriously she has never even seen Barney! Isn't that supposed to be like strongest non prescription sedative for kids?
So we zipped up her jammies and wiped her tears grabbed her favorite bunny and headed for our walk of shame out through the lobby. The lobby filled with tons of judgmental strangers staring me down like how could I have possibly put my baby through all that. As if I was tattooing her face to match Mike Tyson.

We made it about two miles to the parking lot of a donut shop when I started to feel a lump in my throat. We failed today. And I am sure today wont be the last time. The worst part of it all is you feel totally alone. No one quite understands what you are feeling. No one can understand that your heart is always heavy for the unknown. That every six weeks you loose a night of sleep waiting on blood test results. Every three months you stare at that ultrasound machine trying to make sense of internal organs which by now you recognize with out having them pointed out to you. You search through each organ trying to make sure there isn't the slightest speck of cancer intruding on their perfect formation. So the thought of a failed attempt let's you linger with the unknown a little longer. Honestly, the tech could care less you have to come back and attempt this again and the guy at the donut shop would be delighted you're back for another visit. But instead of sitting here crying about it we are just going to have to get a bit more creative.

In good news Haddie's latest AFP blood work was 8.5 which is the lowest to date!

We are off to see the new geneticist Dr. Martinez on April 22 at UCLA Children's who happens to be a specialist in BWS and we couldn't be more excited about that!

We hope all of our BWS friends are doing well! You can also find me on Facebook and InstaGram @onein13thousand

Much love,
Melissa

This was Koen's Easter Bunny face:)

Strength & Sacrifice

From the moment you find yourself trying to decipher the display of that little stick of fate, you enter into the world of life's greatest lessons. You're supposed to wait two full minutes but who actually has that kind of patience! Instead you sit there atop the lid of your Loo. Staring. Watching as one line quickly darkens, looking at the clock, seeing that it has only been thirty seconds. So bummed! And then as your are ready to toss that little stick in the trash you glance at it one more time. Wait, is that what I think it is? No it's too faint. Re-read the instructions, panic, quick google search "one faint line?" Bam! It hits you... you crack a smile, you silently squeal, you cry. All in a quick two minutes. Brace yourself. Life is about to hand it to you.

Lesson 1 : Strength
Before Haddie Mae was born I thought I knew what strength was. I thought that holding my hair back 15-20 times a day over the Loo at work, on the side of the freeway, in Target, in my best friends kitchen sink for twenty-three weeks straight was strength. I thought that arriving at the hospital on Sunday in labor to finally give birth on Tuesday to a 10lb 10oz baby was strength. Well I was wrong. Strength is being born after 37 weeks from a womb that couldn't fully support you. Strength is getting your blood drawn 17 times in one year. Or four Mag-3 Lasix tests. Strength is 8 days in Pediatric Intensive Care Unit after having your tongue operated on. Strength is learning to sit up on your own even with diastasis recti and an umbilical hernia. Or taking your first steps just days after having kidney surgery. In the short 16 months of her little life Haddie Mae has taught me more strength than I could have even imagined.

Lesson 2: Sacrifice
As you enter motherhood sacrifice is something you learn quickly. This lesson comes often and without much notice. Though most of the time, as strong as the word sounds, it goes unnoticed. Because often the sacrifice is followed with reward. With pregnancy comes a loss of many things. Sleep, comfort, body proportion. Immediately following these small sacrifices is the greatest reward. Although you may find much enjoyment complaining about each one you have no idea how much you are going to wish you would have eaten your words instead of that third piece of chocolate cake. These sacrifices are nothing in comparison to two big blue eyes wrapped in a cozy swaddle with a sticky out tongue staring up at you as if you are God all mighty Himself.

And still you have no idea what sacrifice is. And may not yet. But 23 hotel stays in LA away from your two favorite boys. Driving 500 miles round trip often with a screaming baby in tow. And $20,000+ that went from our pocket into the hands of our medical teams, gas stations and hotels sure seems like a sacrifice at times. Putting off dreams, date nights, trips to the hair salon, vacations. But the reward is worth every sacrifice. No matter how big or small they may seem. One very healthy happy girl who has taught our family life's greatest lessons.
Something tells me Haddie Mae has a lot more in store for us and I cannot wait to soak it all in.

Much love,
Melissa Hughes

Thanksgiving, Surgery & Christmas... Oh my!

Well 2012 went out with quite a roar! I think my head is still spinning. I am not exactly sure what I was thinking scheduling a surgery between Thanksgiving and Christmas especially since the Hubs was on his hunting trip in Colorado from Halloween until just a week or so before Thanksgiving. Pure craziness. 

Grandma Hughes traveled with me and HMae down to CHLA for Haddie's pre-op. We traumatized her with all of the Christmas shoppers at The Grove. But had fun anyway.

 

Thanksgiving I cooked my usual turkey and slaved in the kitchen all day. I loved every minute of it! Grandma Hughes played with HMae all day so that I could do my thing in the kitchen.  Koen kept Daddy and Grandpa preparing the property for visitors of course. The night ended with the usual cousin Lori trying to lure us into playing card games but our bellies were too stuffed to move off of the comfy couch and after cooking for two days I was DONE! Next year Lori, next year:) 

 

See this lady down here ... She is AMAZING! She is my Daddy's sister, Karen, but also known as Grauntie to my kiddos. She deserves a blog post of her own...

A few days later we traveled down to Children's Hospital Los Angeles for HMae's surgery. We were so blessed to be able to stay at Ronald McDonald House the night before surgery.  

We arrived at 7am for pre-op. We waited and waited and waited. We tore up paper and made friends in the hallway. We modeled our super cute tiger jammies to all the nurses that have seen them a thousand times but genuinely act like your kid is the cutest one they have ever seen in them. I love all of them for that.

 Finally we went back to surgery waiting and HMae got happy juice. She got a little loopy but never enough to make her calm. The sweet Surgery Nurse carried HMae into surgery. Some how this made it a million times better knowing she was in loving arms while being whisked away to surgery. Surgery started at 8:50am and she was done at 11:30 am. This time they were going in through her abdomen to assess and repair if necessary her right ureter.  It turns out a section of her right ureter where it meets the bladder was paralyzed. It wasn't functioning. Which was keeping her urine from flowing into her bladder and causing her ureter to be distended. Dr. De Filippo removed that section and re-implanted it into her bladder in a new location.

 I warned every nurse and anesthesiologist we met about miss HMae and her strength. I must have repeated myself twice to each one. They didn't listen:) She woke up from surgery and was standing on the bed hollering down the hall to me! I said to the Hubs "I think I hear her" he thought I was crazy. He knows me and my single sided deafness. I hear nothing! Not even my own husband... or do I... just kidding:) They finally came to get us around 1pm to let us see her and sure enough it was her! Wouldn't you know. In a large triage style room filled with crying babies and general loudness there she stood atop her hospital bed with a number of lines coming from her and nurses trying to untangle them. I giggled and quickly ushered to her side to sweep her up and comfort her. I had no idea she was going to be awake... let alone standing up pitching a fit for all to hear.

She is amazing! Her strength is pure and untouched. 

She has an incision much like one you would see on a women who has had a Cesarean section birth. It's about 5 inches long. I wonder what she will think of it when she is older. I hope it never phases her. 

Some of us are stitched together just perfectly.

 And some of us are not. 

A few frayed stitches makes us even more grateful for the thread that binds us all together.

Once we finally got taken to her official recovery room where she would stay for the next seven days(or so we thought) she had too much fun! She drank them about 95 bottles of pedialyte. She obviously was trying to show them she could hold it down because she wanted the ''good" stuff again. She played with Grandma Michelle who brought her presents from Nordstroms and was tickled pink when Grandma let her wear her pearls.

 All of the butterflies wrapped around her crib. The nurses we so delighted when they came in to see how bright and cheery it was. HMae loved looking at all of them. Thank you to everyone who took the time to do that for her. It was absolutely lovely. They are still hanging in her room as decorations and as a daily reminder of the love that surrounds us.     

A nap in her fabulously decorated hospital crib!

Finally got the "good" stuff.

 We could have never imagined that her surgery would have went as good as it did. Dr. De Filippo told us to prepare to be in the hospital for seven days and just a day and half after surgery we were headed home! We are so grateful things went so well.

 A few days later it was time to catch up on some rest. Grandpa was worn out from chasing around Koen for two days:)

 Who doesn't love on-demand open mouth baby kisses???

 HMae had Grandma and Grandpa whipped into shape before they had to drive back to Colorado. They were singing and snapping along to the purple teapot and it's silly songs. All she had to do was push a button and they would put on a show! It was hilarious! Grandma got HMae so close to walking before she left. It was like having an in-home physical therapist working with her everyday. Sure enough she was up and rearing to go a few days after they got home.

 I celebrated a birthday it was so nice. Sushi. That's all I have to say about that.

They met Santa... it went well. Haha!

 And four days later Christmas festivities began. Christmas Eve at Grauntie and Gruncles included everyone's favorite Chocolate Fondue!!! I thank my lucky stars for my Great Grandma Doris and her Christmas traditions. I hope she know how much we all appreciate the love and work that she put into our Christmas treats all those years. And now Grauntie has taken over the love of Chocolate Fondue and Cream Puff making with Great Grandma's watchful eye inspecting each cream puff for perfection. Without this it is just not Christmas. This year these two got to indulge and for some reason it made the chocolate seem ever so sweet!

 Cookies for Santa

Christmas was perfect. The Hubs had me in tears. He really outdid himself this year. I'm not sure why a new purse and matching wallet turned me into a sobbing baby. But it did.  Seeing Koen's reaction to whether or not Santa had come to visit was absolutely priceless and made all the late nights of crafting the perfect brown paper packages worth it. 

We spent the days leading up to Christmas spreading a little kindness. I promise I will compose a blog post about that soon.

Until then, 

Much love to all, 

Melissa Hughes