Wednesday, August 31, 2011

Ellie had her four months shots today - she did great. She cried, which was awesome, and even after that she smiled at the doctor! She was 8lbs10oz, and 20 inches. Jake had a check-up, too, he's 31lbs and 38inches tall :) I got a refill on my coveted domperidone. Good times had by all.

Tuesday, August 30, 2011

You should see my calendar... between infant development playgroup, infant massage clinic, endo appointments, sleep studies, preschool for Jakob, playgroup for Jakob, and Jason's work schedule, all my free time seems to have poofed away!

I can't believe how busy life is when a child has medical problems. It's no joke!!

Ellie has her four month vaccinations tomorrow, Jakob is going in for a check-up, and I am going to get a refill on my domperidone, since I went through that last bottle like skittles. Stupid pump. I effing hate pumping. But, I'm going to stick to it, because I know it's good for Ellie. I just can't switch to formula. Sigh... formula is more work, anyway.

Monday, August 29, 2011

Been busy over here. Jakob has been into crafting, and into mischief. It is safe to say, we're well in the throws of the terrible twos - but, he is still an angel 90% of the time.

Presently, he is balancing on his high chair, getting ready to spring off. He is covered in blue gak, blueberries, paint and maple syrup. Today, I started the C25K running program, came home, got dinner ready (rainbow waffles, with peaches and blueberries), and then, with Jake, assembled a balloon matching game, painted arm trees, painted the table, painted the floor, made gak, made a really big mess, learned a lot about how things feel, sound, smell, and he told me he loved that I let him get messy. Now, instead of "can you turn on the tv?" it is "can you set up a craft for me?"

I was pumping, upstairs, for Ellie's dinner. I was gone five minutes. When I came downstairs, my fridge was wide open. Jakob was standing, pretty much in the fridge, with a guilty look on his face. I daresay, I boomed at him "WHAT ARE YOU DOING?!?!?!?!?!" He said, I got dinner out. For us. To eat, MOMMY." with the funniest "what do you think I am doing" look on his face. Indeed, he got the plate of waffles out of the fridge, the syrup, and the butter. He knows he isn't to go in the fridge, but it was hard to be mad when he actually was helping. If only he could learn to fold my laundry, ha, then I wouldn't have eight loads staring me down.

The Man of the House, is working nights this week. That means Jake and I have to be quiet until 3pm, ugh, and then we're alone all night long. Makes for rough times for me, since I do everything with Ellie at night on these shifts.

Ah, he needs his mama. And she's crying. Wish I had extra arms!

Wednesday, August 24, 2011

I keep starting posts and fail to finish them. Sigh.

Ellie has now been home with us for the same amount of time that she was in the NICU. I can't really believe it.

Today, we met with the endocrinology clinic. I went with Ellie, on my own. Everyone was lovely, and they didn't really do much, other than weigh her, measure her and look her over. Little miss is still little. 8lbs9oz, and 19.75", at two months adjusted leaves her at the bottom of the chart for weight, and nowhere near the chart for length, only at the 0.1st percentile. Tiny nugget.

On September 7th, we have to take her in for her growth hormone stimulation test, a thyroid test and cortisol levels test. I was told to expect to be there for about 6 hours. SIX HOURS.

Then, we need to do a sleep study, and we can start on growth hormone. They said it was likely she's deficient in gh, which is why she's such a runt. If she is, then the cost of treatment is covered, which would be good.

I'm feeling sort of down today. I had the walk to look forward to, but that's passed, and now I actually have to face reality. I'm scared for Ellie's future. I know she has so much support, but I'm so scared other kids are going to be mean to her if she can't speak clearly, or leave her behind if she can't keep up on the playground. Sigh... I wish I could fix things, make everything alright.

But, I can't. I'm just me. All I can give is love and support.

Friday, August 19, 2011

I was born to be Ellie's mother. I have been thinking about it, and it all came together in the wee hours of the morning.

As a child, all I wanted to be when I grew up was a mother. In elementary school, I met people who still heavily influence my life. Some of our most generous supporters are friends I've known my whole life. A friend's mother is a medical geneticists, Ellie's godmothers come from that group, as do so many other connections.

In university, I did everything, but it was almost like I was setting myself up to deal with this situation. I didn't major, focusing rather on family studies (particularly parent-child dynamics), language and visual art. I wanted to be an art-therapist, maybe also a music therapist. But, I changed my mind. I wasn't into it, it didn't click.

Then, I went to BCIT, where I studied public relations and media communications. I got some good jobs with my credentials, experience in communications, in fundraising, but that didn't click, either.

Then, I had Jakob, and he gave me the wonderful experience of a beautiful, perfect pregnancy. Natural childbirth, easy nursing, and first time motherly love. He's taught me patience, to value to moments, to live, to love, and to let things go.

With Ellie, well, she puts everything into place. I have prepared my whole life for her. I can deal with this, I can help her. God, I love her.

Our walk was a resounding success, I was featured on the Saturday morning radio news (CKNW, August 20, 6:33:22am, if you want to look in the audio vault!)

Ah, gotta go, little man just fell asleep on his dinner plate.

They ran our story in the Optimist!!

Family taking 'small step' to battle genetic disorder
I was just interviewed by Jill Bennett of CKNW's weekend show! Looking forward to hearing it aired on Sunday morning, and hope it brings extra people down to support our walk!

Tuesday, August 16, 2011

Holy! I just got interviewed by a reporter for the local paper here, about our One SMALL Step walk on Sunday!

I submitted Ellie's story on the weekend, hoping that they might run it, but didn't think they actually would! I'm excited!!

I would really love to have as much support as possible for all the PWS kids. I checked our campaign page this morning, we're back in 2nd place, which is absolutely fine, since sooo much money is being raised for research. Only five more sleeps!

Today we got our referral to endocrinology. Our appointment is next week, on the 24th.

I got a letter from Medical Genetics today, also, going over everything we talked about at our appointment with them.

Physical Examination:
Weight: 3.73kg (2nd-3rd %ile)
Length: 51.5cm (0.1-1st%ile)
Head Circumference: 37cm (15th %ile)

Ellie appeared much more alert and responsive than when I saw her last, many weeks ago in the nursery. She had facial features in keeping with her family, and also with PWS, with bi-temporal narrowing, mild dolichocephaly, narrow palpebral fissures, small mouth, small hands (6.1cm <-2SD), small feet (7.3cm; <<-2SD), and light pigmentation. She had normal cardiac sounds, clear chest, no hepatosplenomegaly, and normal genitalia. Her tone had improved, although head lag and mild slip-through with axillary suspension were still present. The Moro response was present. She had somewhat more than expected cutis marmorata. Her eye movements were conjugate.

Impression and Plan
Ellie has a history and physical features consistent with her molecular diagnosis of Prader-Willi syndrome. I have reviewed the following points with Jason and Susanne:

Ellie has a deletion of chromosome 15q11-13, presumably the paternal chromosome, which is the most common cause of PWS. I explained that this occurs sporadically and there was certainly nothing they could have done to cause it. The chance of recurrence in another child would be 1% or less, and they could choose CVS or amniocentesis in future pregnancies to rule out PWS, if wished for.

PWS reults because there is no expression of a set of genes in that region: not from the paternal chromosome because those genes have been lost, and not from the maternal chromosome, because throse copies are normally silenced, or turned off.

Issues facing an individual with PWS include:
* infantile hypotonia. This can be quite sever sometimes and often accompanied by lethargy and sleepiness, as it was for Ellie. The hypotonia steadily, gradually resolves, although motor milestones are delayed (average age to sit: 12 months; walk: 24 months), and upper body strenght in particular may also remain decreased from normal into adulthood. Individuals with PWS have decreased muscle mass.
*Hyperphagia [she wrote a bunch, but it's not relevant at the time being]
*Growth hormone deficiency. Many children have growth hormone deficiency, which causes not only short stature but also contributes to decreased muscle mass and and abnormal fat distribution. Treatment of children with deficiency ameliorates these finding, and interestingly also has effects on other physical features, such as facial featyres becoming more similar to parents, and hands and feet growing to a normal size. I am putting through a referral to Endocrinology for consideration of whether this would be appropriate or not, a discussion of risks and benefits, and review of the issues of coverage in BC. I am also requesting that they consider testing for cortisol deficiency, which affects a minority of children, and suggest a schedule for TSH testing, which affect 15% at some point.

Monday, August 15, 2011

Fun times with Jakob

I recently stumbled across a fantastic blog, Play at Home Mom. I LOVE their ideas, and sensory integration activities, especially since we anticipate Ellie having special needs.

Jakob LOOOOOVES the activities. So far, we've made sensory bags: *pic to follow, camera battery died!

Clean Soap:
Microwave a bar of Ivory soap for a minute on High. Watch in amazement as it expands and bubbles out. Marvel at the clean smell that permeates your kitchen.

This is what you get:Tear up some toilet paper (we used a whole roll of Dollar Store stuff), into a container.

Have some fun while you're at it:
Add about two cups of water, and PLAY! Jakob had it all out on the floor, and made sculptures, a snowboard ramp, and pretended it was pizza dough, as he tried rolling it out with his tiny, new rolling pin!

Rainbow Rice:

Way better than sand, and he just goes crazy for all the colours!

We're waiting for our water beads to plump up:

Water beads are usually used in floral arrangements, but they're amazing for sensory activities. Jakob has been checking every hour as they're transforming from little pellets, to big plump beads. He says they're " beeeeeautiful", and is currently playing with two half-formed beads in the living room, pretending they're eggs waiting to hatch.

and I've got a ton of other activities just waiting for another day!

Friday, August 12, 2011

First Place!

I slept in this morning, thanks to my lovely husband taking Jakob when he woke up. I awoke to the phone ringing. It was my Mom, in London, calling to tell me that we're in 1st place for our location AND we're in 25th place overall.


And, my great friend Pam is making us some One SMALL Step Korker bows! Check out this design:

We are eternally grateful for all the love and support.

Thursday, August 11, 2011

I haven't been mentally active in a while. By that, I mean, my mind hasn't raced with inspiring ideas in a very long time. Last night, I was up, mind buzzing with ideas on how to fund-raise year round for PWS.

I have a million ideas, and nothing but time. Letters drafted in my head for corporate support, all sorts of plans.

In just over 24 hours, we've raised $1850! Can you believe it?
Yesterday, I woke up not know it was going to be THE day. I was grumpy, sad, generally just blah.

But then we got the call, and something like a miracle happened. All the incredible people we hold dear to our hearts banded together to support us, and this morning I awoke, feeling refreshed, energized and bursting with hope.

I set a goal of $1000 for this walk. In 8 hours, our friends (new and old) and family met that goal. Are you kidding me?

This child is so loved, so blessed, so incredibly lucky for everything.

I am moved to tears at the generosity. You are all angels.

Wednesday, August 10, 2011

This afternoon, just after 4pm, the phone rang. I was upstairs finding the last of Ellie's preemie clothes out for the quilt I am making out of her first onesies. I answered, and a cheery female voice was on the other end of the line.

"Hi Susanne, this is Dr. Anna Lehman, from Medical Genetics calling. I see here that you called a few days ago about a test we were doing, and I'm calling to let you know that we found an explanation for all of Ellie's problems. We have a positive diagnosis for Prader-Willi Syndrome"

I chatted with her for a few minutes, as she told me that she assumed I had probably already done some research on the syndrome, and that she wanted to reassure me that Ellie's life would be long and fullfilling, although there will be obstacles to overcome. We arranged for a meeting tomorrow morning.

As I hung up the phone, my insides crumbled. I made it downstairs, to Jason, and I started crying. I cried hard for probably five minutes. Once that was over, I felt an incredible, indescribable sensation of inner peace.

We have an answer. We have everything I was missing. My daughter, my sweet, beautiful, amazingly perfect girl has PWS, and it is nothing with cannot handle. I am a firm believer, as I have said before, in that we only get so much as we can handle. This is okay!

People aren't sure what to say to us, and I suppose it is an awkward thing. For us, we are not sad. Yes, I cried, but quite honestly, I've smiled more in the hours since we got that phone call, than I have in weeks. Be happy for us that we have a diagnosis. The not knowing was an absolute soul crusher. I am so happy we know what we are up against, and we're ready for battle.

I am blown away by the generosity of friends, family and strangers, who are rallying behind us to support our Ellie, and all the others affected by PWS.

Maybe not this year, and maybe not next, but eventually, and I'm positive in Ellie's lifetime they will find a CURE.

We have less than 2 weeks before the walk, and in less than FIVE hours we've almost met half our fundraising goal. You people are incredible. We have so much love, so much hope.

Thank you for your support.
To our dear Friends and Family,
Our journey with Ellie has not been without its share of challenges. Until this week, we waited patiently for an answer to everything we've been through. From my pregnancy complications, to Ellie's early arrival, her lengthy NICU stay, and ongoing feeding and tone issues. Today, we finally received our long awaited answer.
Ellie has Prader-Willi Syndrome.
PWS is a rare genetic disorder, affecting somewhere between 1 in 10,000-25,000 births, that happens in two stages. The first, lasts for up to two years. Newborns with PWS are small for their gestational age (Ellie is below the 2nd percentile) with especially small hands and feet, have problems sucking and swallowing, and as such fail to thrive. Ellie needs to be fed primarily by feeding tube to survive. They are floppy, often have a very weak cry. Babies with PWS are very well tempered, and easy to care for.
At some point between the ages of 2 to 6 years old, children enter the second stage of PWS: the Hunger. Individuals with PWS lack normal hunger and satiety cues, due to a malfunctioning hypothalamus. They usually are not able to control their food intake and will overeat if not closely monitored. Food seeking behaviors are very common. In addition, the metabolic rate of persons with PWS is lower than normal. Left untreated, the combination of these problems will lead to morbid obesity and its many complications.
There are treatments, but there is no cure... YET!
On August 21st, our family will be participating in the One SMALL Step walk to support the Foundation for Prader-Willi Research. We firmly believe a cure can be found. The walk will be held in many cities around the world, with an overall fundraising goal of $500,000.00
Having just received her diagnosis, we haven't much time to raise money, but better late than never. Our goal is ambitious, $1000.00 and hopefully you can help support our cause to fund further research for this syndrome.
Our campaign page, and more information on the Foundation for Prader-Willi Research can be found by clicking this link:
Thank you in advance for your support,
With much love and light,
Susanne, Jason, Jakob and Ellie M.
110 days later, we finally have our unsurprising diagnosis.

Ellie does, indeed, have Prader-Willi Syndrome.

We meet with the genetics team tomorrow for our first in depth conversation. Part of me is devastated, and I know it's normal to grieve the loss of all my "normal Ellie" dreams. The other part is ridiculously relieved to know that we HAVE a diagnosis, and I can finally go forward, and love my girl for everything that she is <3
We had our two-month adjusted doctor appointment today. Ellie has put a fair bit of weight on, but hasn't grown hardly at all in length.

Today her stats were:
Weight, 3720g, or 8lbs3oz
Length, 50cm, or 19.5in
Head Circumference, 37cm

Weight is at the 3rd percentile, Length isn't on the chart, HC is just below average. Big noggin, chunky thighs, shorty pants :)

She is doing well, though! Doc was very happy with her smiling milestone, and said she'd make some calls to see why the genetics testing is taking FOREVER and a day.

Tuesday, August 9, 2011

I'm sure it was a fluke, because I'm fairly sure it's completely impossible... Ellie rolled from her back to her front today. She can roll from back to side, but today I watched her in slow motion, continue from side to belly, and she got her hand out from under her. I tried to set-up a redo, but she wasn't having any of it.

She smiles at the oddest things, but she smiles a lot, and I love her more every smile she gives.

I started counseling this week. It's about time :)

Thursday, August 4, 2011

A happy girl, I am not. It is past 11, I just tried pumping to no avail, because he napped until 730pm, Jakob doesn't want to sleep, and the man of the house decided he would help the situation by sleeping in the guest room.
I get to look forward to a night of tube feeds and every two hour pumping.
I have my head health appt tomorrow afternoon, which is not a moment too soon.
So, it's been six weeks, and we're four days into August, so I called Medical Genetics. Now they're telling me it's a 6-8 week wait. That means, we have potentially two more weeks of WAITING. Sigh.

She Smiles!

Ellie has been smiling a lot recently, started about a week ago, every time Jakob would go within a couple feet of her, she would grin. I thought it was a coincidence, but over the past few days, she will smile at anyone that engages her! SO adorable. Her eyes light up, and she is soooo cute.

It only took 15 weeks, but she's right on track with her adjusted age, and let me tell you, the smiling helps SO much.

Heaven help me, I didn't know it was possible to fall this much in love <3

Tuesday, August 2, 2011

Today was BUSY.

We had Ellie's eye appointment at 8:45am. Normal eyes, or as much as they can tell at this point. Very hypopigmented, he said that PWS kids have that a lot. Not entirely surprised.

After the appointment, we went home, cleaned the kitchen, then headed off to a ReStore to buy supplies for our closet makeover. If you've never been, GO. They are amazing!

We got home, I cleared out the closet, Jason painted, I sewed, and we put it all together. Took the whole afternoon.
The inspiration:

Here's the before:
Here's the after:

And a few details:

-Paint and storage/toy box, free- we already had them
-Hooks, Cushion, Fabric and a battery light $25

Monday, August 1, 2011

Eight weeks early...
She's so tiny
She'll make it surely
It's so scary

On an April morn, you were born
Some hundred days ago
You changed our world
You beautiful girl
How much, you'll never know

A fighter you are
No matter you're small
You're here to win them all

You showed from the start
The strength in your heart
It made us so glad
To see you so well

Your blonde, blonde hair and
Your skin so fair
Your eyes of blue saying
I need you

My Ellie, my Ellie, my Ellie-belle
Your story is one to tell
The beautiful girl
who changed our world
how much you'll never know

My Ellie, my Ellie, my Ellie-belle
My Ellie, my Ellie, my Ellie-belle

with your blonde, blonde hair and
Your skin so fair
Your eyes of blue saying
I love you.

I love you, I love you, my Ellie-belle
I love you, I love you, my Ellie-belle
Stop pulling out your feeding tube!!! YOU NEED IT.

Four times in the last 12 hours. And I tape it down realllllllly well! Trying the afternoon without, so far not the greatest start. UGH.