Pioneers

We've been in crowds lately. At two graduations and church. At events for children, at crowded pools. We've traveled to Connecticut and crossed states. And in every setting, I've realized that everywhere we've gone, no doctor could stare across the aisle at us, casually approach us, and tell us what they think is going on with Mimi. Because, they wouldn't know. In a crowd of a thousand, or ten thousand, no one could help us.

As a Mom this is a rather shocking, and stunning realization. It's so isolating, it makes me instantly find a strength inside me. It's one that makes you say to yourself, "well I know what I need to do."

For us it means driving 700 miles to have Mimi meet with the best doctors for growth in the world. We are hopeful that our trip to the MAGIC Foundation Convention next month will give us answers and peace of mind- after three years of uncertainty. I found MAGIC on the web a year or so ago, and was also referred to their website from our nutritionist at CHOP. They are the foremost resource for growth disorders in children, and provide support and information to parents and physicians.

In my "journey" with Mimi, I've been quite surprised to learn that all of Mimi's current local doctors are interested in hearing what I've learned from MAGIC, and in all their current literature. Growth disorders aren't for the faint of heart parent. If your child has one, get ready to stay up to date on everything related to your child's care. At the MAGIC convention, we are hoping for a diagnosis, for lots of information in the form of seminars, and for information to take back home to our doctors.

On our trip to Connecticut it was evident that Mimi keeps me busy. Does the hotel have a microwave? Does it have a fridge? Because at midnight she'll need to eat a meal. It proved to be a good trial run for our trip to Chicago.

We have a couple weeks to wait for our trip. But right now, across the world and America, Little People are packing their bags for the LPA convention which is in DC and starts this weekend! It's so close, the upcoming years will find the convention in California, Texas and Massachusetts. Parents of Little People are breathing a sigh of relief to be near people who understand them. They are throwing clothes in their suitcases and getting out of Dodge. To a place where the people around them are civilized and not staring.

The thought has certainly crossed my mind to attend with it being so close to home, and I have to admit I've had a few conversations with the operators at the 800 LPA phone number (and yes, Mimi would qualify as a member at this point.)...but we need more information, and we're starting with MAGIC. from there, we'll figure out where we belong, based on what is determined, and if Mimi is able to get medication for her growth delay.

We'll have our first experience with a medical convention soon. And on the first day, we will know if these type of things are in our future each summer from now on. I feel like a pioneer, nervous for my child, unsure what the future holds, but thankful that someone out there can help us.

Mimi met with our dietician yesterday. At 32 months old she is 23.6lbs, and 33.6 inches tall. Since the fall, she has gone from 88% of standard weight for her length, to 94%, and no longer fits the criteria for wasting. (hooray!) She continues to eat 1600-1800 a day. She is still suffering from hypoglycemia and must be fed immediately in the morning, and before she sleeps at night, and given a high protein diet combined with complex carbohydrates.

Her IGF-1 level has gone from a low of 40 to a lower level of 26.

Changes...the Short of It.

It's been so long since I wrote anything for my blog. I had so many great ideas. "our week with Jenny the au pair!"..."How I delivered hundreds of stuffed animals to Max's school." ..."baseball season!''..."end of first grade!"...."should I continue making little hair things?"...."Mimi's recent tests"...."turning 40."

but no, instead I watched online movies about people I met on facebook attending a Growth Convention and Little People of America stories. I read Endocrine Today articles and Journal of Medicine Growth Studies, and learned about Growth Hormone, and Ipsen Pharmaceutical Labs.

I am in a bit of a state, saving to get out of the state- to attend the world's largest growth convention for children with Growth Disorders. The Magic Foundation Convention in Chicago.

Things have gotten a bit intense, as Mimi I think hasn't grown again since February. or gained many ounces since then either. She's like this little beauty who seems to always look pretty close to what she looked like the last time you saw her. At 32 months old her hands are the size of a one year old. Only thinner. Her feet are the size of Will's feet on the Little Couple. Will has achon dwarfism and just turned three...only Mimi's feet are thinner.

I am nervous, as we've made the monumental move to have Mimi seen by two world growth experts at the convention. I have wondered about her for three years. Is a month all that I have to wait now?

I've really changed as I've taken care of Mimi. And I have to continue to change in order to survive the endless specialty appointments and feedings. I have to keep track of a lot and have energy for Max. and energy to play with both of them. I can't hear, "oh she's just short" and then abandon her needs ten minutes later. I have to block out those voices and carry on.

Scarily, everyday things seem utterly ridiculous to me now, including my own Creativity. (which has been replaced by research.)

It's rather odd to move away from things I've done for so long. To spend my days differently. It's Adaption.

Happy Easter Little Ones! XO

Mimi and her Sure Steps

Mimi had a great Good Friday morning.
She was so excited to get her "new shoes"...her Sure Step orthotics. They will help her run more easily.

She waited patiently for Chris Lawall from Lawall Orthotics and Prosthetics to arrive from Hershey. She took a photo of him when he came in:)

They were made just for her and she helped pick the pattern and the strap color.

She loved them and loved looking at them.

 

She took off running around the house. Now I'm not sure I'll be able to get them off of her!

 Less falling and more stability...we're all so happy for that.

March Au Pair Meeting

Last night I hosted the March Au Pair meeting at my parents house. We completed our poison awareness safety segment, and then created a blanket to donate to the pediatric unit of Lancaster General Hospital.
We will also be donating small books and toys to the unit.

Caro, from Germany, came straight from the Zenkaikon convention (Japanese Anime) at the Marriott in her Cosplay. She hand stitched it herself!
She made the news on Friday in her favorite look You can check out Caro and all the great costumes here:
http://fox43.com/2013/03/22/zenkaikon-2013-hits-lancaster/#E8hsMu7OT86W0k7z.01

From Wikipedia:
Cosplay (コスプレ kosupure^?), short for "costume play", is a type of performance art in which participants wear costumes and accessories to represent a specific character or idea from a work of fiction. Cosplayers often interact to create a subculture centered on role play. A broader use of the term cosplay applies to any costumed role play in venues apart from the stage, regardless of the cultural context.

I'm in OZ

Well I thought we might know the results today for Mimi and her Russell Silver Syndrome genetics test. Oh, if it's not this, it is probably a type of Growth Hormone Deficiency. This is what the munchkins had. They are proportionate dwarfs with pituitary dwarfisms, and did not have growth hormone injections. It would (will?) be suggested that Mimi have 4000 shots over the next decade if she has similar 

(and they are already "mentioning" it). In fact, it's the treatment for both Russell Silver and GHD as they call it.

When I thought the answer was coming about the RSS test today my heart was racing, I was pacing. Our genetics counselor said, "it still says pending, let me call the lab. if i don't call you back in 10 minutes, i don't know yet." She didn't call back. Maybe tomorrow or another day.

...

Rather fitting that the new Oz movie is out.

There is a lot to research over here at the French house. Does one stay au naturale little person size or pump it up with some GH? I am still figuring this out. but My little Ms. Einstein won't let me on the computer very much. I've started to print research articles and read them later. They are scattered next to my bed and then are slipped into my bedside bookshelf next to Elmo Visits the Doctor. 

All this cooking and playing I do all day, and Mimi is now telling me she wants "two" of this or that. geez, bossy!

Nevertheless it was a happy day.

There's no place like home.

with your little munchkin.

 xx

 

Mimi Tells her first Knock Knock Joke

Officially Exhausted!

Well it's been quite a month. and I have to report that I have reached a point of exhaustion.
As I mentioned in previous posts poor Max has recovered from 2 stomach flus, his appendix out, and one typical flu. Mimi , has upped the anti, with her til 1am feedings.

I reached an exhaustion point this weekend. I needed about 3 days of sleep. I caught up a bit, but left the house today, only to nearly fall asleep on the way home.

It feels like we have been to the doctor at least 3x a week since January.
and not just ho-hum typical kid appts.
we're talking the very stressful, genetic appt, genetic testing, surgery follow-ups, weight checks, a "does he need to go to ER?" appt, a "does SHE need to go to the ER?" appt, and on an on.

I've also had it with the casual comments from folks about poor Mimi's height and slimness as well as the array of comments from all angles. From the "oh she's fine" from a neighbor, to the "SHE IS NOT GAINING!" from a specialist. It's killing me a bit. It is feeling like EVERY where we go there are comments, and almost every conversation I have frustrates me in some manner and at this point just confuses me or stops me in my tracks.

For example, if I tell a therapist she is up til 1am eating, they will ask me 10 minutes later if her next appt can be at 9am. I then have to explain that I'm not kidding, she is UP until 1am. And especially because she is Failure to Thrive, she both needs to sleep 8 hours and then immediately eat. So if you are to arrive at 9am, she would not have gotten eight hours of sleep, nor will she have eaten. Take this kind of conversation and multiple it times three or four and that is my day.

I hope we have a diagnosis soon. The Russell Silver Syndrome handbook arrived. If she has that, I've got a very large manual to dissect. If not, the investigations continue, if I can sit at the computer without falling asleep.xx

Running with Luci

I wanted to share this film trailer with you, "Running with Luci." I can't wait to see it!

While you were sleeping...

This past month we've battled some sickness with Max. The flu, his appendix out on day 5 of the flu!, 2 nights in the hospital, then 5 days later a stomach flu. It's been really one day at a time for us, as his energy is rather low, and it's taking a while for him to recover. This past Friday he became sick again with a stomach flu and now we're set back again.

Mimi has taken to eating more than ever. We're over 1400 calories a day now, and since October she has gained 2.5 pounds. This past month she grew .75 inches suddenly which was the first time she has shown significant growth since early summer.. She's up til 1am most nights eating. We've added more calorie rich/high protein/high fat foods to especially her nighttime feeding. I added an IKEA step stool to the counter to accommodate her growing independence. But it's also facilitating her eating even more, as she's able to help. She's sneaking lots of extra soy butter in, during her helping, and is vocal about needing another serving of what we're cooking.



We're on another cleaning tangent. It's the simple things:)




We have joined the MAGIC Foundation for Children's Growth. It's been a wealth of knowledge for us as we learn about growth disorders. We hope to attend their educational medical convention this July and are raising funds to attend. To contribute you can click on the link in my side bar. If Mimi has a diagnosis by then, we can attend seminars to learn about that condition. If we don't know, and even if we do know, we can meet for free with the top two growth specialists in the world.



This past week we had Mimi's genetic testing done for Russell Silver Syndrome, a rare form of proportionate dwarfism that is actually in the Primordial Dwarfism category. Girls with RSS can reach an adult height of 4 foot 5 inches with no growth hormone, have worrisome early years (it's dangerous if they become ill with typical illnesses) and need their growth and health monitored religiously. Because of their low muscle tone, they can develop cardiovascular issues. They can be prone to kidney problems, and it's dangerous for them to have any surgeries without a glucose running IV. It's really not our concern that she may be very small, but that these children have a severe need for food during their infant and toddler years, need fed every 2-3 hours round the clock, have hypoglycemia issues, and have gut mobility issues. Mimi has all these and we are focusing on absolute calories all day long. Mimi has already had two surgeries with no glucose running IV...and both times worried me so much- I was a mess over the fact that they fasted her beforehand.There are guidelines for weight gain in these children, the most practical advice is that no matter how many calories they are consuming, if they are not gaining, more must be added.

We have tackled this over a year ago, which is why she went up to 1400 calories. but now we are stepping it up to a level you wouldn't believe to help potentially increase weight gain and subsequently, height. This means boxes and boxes of soy ice cream sandwiches, sausages (20 eaten since Thursday- three days ago), peanut butter, pringles, oreos (yes oreos, dairy free and high calorie). We've added pints and pints of blueberries to her diet for gut mobility. Our nutritionist has worked with us to meal plan with rounded meals and snacks, each providing fiber, fat and protein to help keep hypoglycemia at bay. Even so, two times this weekend her ketones were "moderately" high. They are considering putting her on a three day blood glucose monitor to see what her sugars are doing day and night. Her doctor feels that Mimi can express her need for food, "I need eat!" and that I'm responsive to her. But it's extreme what she's doing, and now we have ketone levels to seriously worry about.
and after all this, still, I hear, "it looks like you don't feed her." (!)

For those who say that I'd invite you to follow me for a day (and night!). If I run out of protein foods or blueberries, I'm at the grocery at 10pm for her. If we are out she is consuming full meals on the go. If a light snack is offered I know within an hour she will need protein and fats again or we're done for.

The genetic blood work for Russell Silver was sent to Sick Kids Hospital Toronto. Mimi is suspected to have the milder but rarer form with no asymmetry in the body and no cafe au lait spots. Additional tests run on the same blood that will be banked can be tested again for methylation levels if the initial tests are negative. This is another way RSS can be spotted. If both those tests are negative, then there would be the wait it out component. "increasingly tiny compared to peers at age 3 or 4." Or they could test for other abnormalities if all comes back negative. The initial tests should take 4-8 weeks.

I just know, exhausted at 1am, after cooking more food for her (and feeling like I'm a flight attendant working the night shift) that she falls asleep with her too slim body. and all is not typical, and she is special is a rare way. That is what I know now.

The latest...

I have recently accepted a position with my old company, Cultural Care Au Pair, out of Cambridge, Mass. I'll be supporting au pairs and families here in the Lancaster area. I'm excited to return to this position.

(but don't worry, I'm still creating accessories from Izzy Lane tweed...look for more pieces at Mommalicious by the end of the month).

I've spent the last couple of weeks retraining online, and will attend a training conference in the next few weeks.

in other news...

I am still convinced that Mimi has more going on than just your standard Constitutional Short Stature. Her nutritionist rang today and she talked with me about outfitting Mimi with a continuous blood glucose monitor for three days. I was a little startled by this, but I don't think Mimi's eating habits are at all normal.
Mimi begs for food often from 11pm until 1am, even though she is still logging in 1400 calories a day on average. She now has gram gaining goals, and with her dairy allergy, we are pacing the aisles of Giant looking for fattening, protein rich things she'll like. (First couple weeks of January, and I'm searching for fattening foods, with the highest calories, while other shoppers whisk past me with their energy bars and salads!)

While at the store the other day, Mimi said hello to a little girl. The girl said to her mother, "Mommy! That baby can talk!"
...

Max came down with the flu on Tuesday, the same day he was supposed to get his flu shot. I ended up taking his shot instead, and am suffering with some aches of the universe. I'm just hoping it stays away from Mimi, who hugs Max constantly, and plays doctor, with her giant medical kit.

Have a great week!

Post Genetics...

Dear Mimi, when we took you to Hershey yesterday to see the genetic specialist, you captivated the entire "team." In fact, I think your doctor complete with bow-tie, fell in love with you. Above is a picture of you yesterday afternoon back at home in your confidently aqua new blue shirt that you wore to the visit.
There were two resident students, two genetic doctors, and two nurses. Your doctor diagnosed you as a beautiful creature who probably, in his opinion has Constitutional Short Stature. He thinks you are tiny and will watch how you grow, thinking you will be about five feet tall.
Today I felt his answer might not be completely right- or that maybe something was missed.
I felt so tired today, that I was in danger of having a stroke!
but behind the scenes of your mother, you have other people watching out for you.
The author of the Russell Silver book, Jennifer Salem, contacted me last night and asked to review your growth. She has given me instruction on how to handle the next year, and I have called the genetic office back and asked them to run a specific blood test that she recommended.
I will remember that appt fondly yesterday, your doctor walking us through the facility himself to have your hand x-rayed, and declaring multiple times that you are so beautiful! so bright! with skin so soft! and hair so silky!
cheers to you:)! Ms. Captivating:)

1/28/13 UPDATE: Hershey Genetics has decided to test Mimi for a variant form of Russell Silver Syndrome.

What Awaits Little One I do not know for sure...but I think I know...

My little Mimi, you see a genetics doctor tomorrow. I hope the doctor can tell us why are so small and not growing well.
You are 32 inches tall and you weigh 21 lbs 15 ounces.
You are 26.5 months old.

I've done all the research I can find. I think you have Russell Silver Syndrome.
I've found you little friends who are growing like you.
I've gotten used to you not outgrowing your clothes, and taking in the waist of your pants. I don't mind anymore that when you stand next to another two year old, sometimes you just reach their shoulder. You are silly and so smart.

I love you, my Mimi Angeline. you fabulous and tiny little one. You can be and do anything you want to do no matter your size. You show them tomorrow, give them all you got...

Merry Christmas and Happy New Year!

We had a snowy Christmas Eve (imagine!), and our Nashville family up the days before. We hit the National Christmas Center, went out to eat, and went to Hands on House. We managed to fit in Dutch Winter Wonderland Sunday night, and church and Chinese food Christmas Eve.
We celebrated a lovely Christmas day with family, a new dollhouse and pirate ships, and went sledding the next day. The snow melted, then it snowed again, and we've sled the last two days, and built a snowman.
Mimi has taken to eating at midnight now, and playing dollhouse with me until 1am.
Both are part of her (probable) condition. A fierce need to eat, and a little bit of hyperactivity.
I'm giving myself a mini makeover, and I'm looking forward to the New Year.
Mimi sees the genetic doctor in January. And so I bid a happy farewell to 2012.
We look forward to an answer for Mimi, new friends we've made and hope to meet, new things to do, see, and learn, new confidence, and enjoying the strength we've earned from our challenges this year.

Happy Kids

I hope you had a great Thanksgiving. We had family visiting, and the kids had a great time with their three cousins. Max and his cousin Audrey made a hideout under the porch of my parents house. It doesn't get more fun than that, really!

We have entered into a serious (and messy) crafty phase in the house.

It's Play Doh time every other day. But all of our Play Doh has this colorful tie dye thing going on. We need the super Play Doh pack for Christmas. Everything we've been creating, critters, little marbles, ice cream cones...everything is marbled.
Surprisingly, we had no school all last week. that was followed by a holiday. I need a few days to deep clean.

The night before Thanksgiving, Mimi's endocrine doctor called us and said that he thinks they'll just test her again in six months. I asked him about the short stature statement on his notes to her primary. He said, "we'll see if she falls off her growth curve." I said, "i think she's only grown a cm since July." I told him we'll see genetics in January. He doesn't think it's necessary, but my primary does.
I'm trying not to think of it today. Even though yesterday, from my calculations she ate 56+ grams of protein.

Max got new glasses! He can see a bit better and thinks they'll be cool with his bow ties.

Is Christmas really near? It seems so. but we have relatives headed to Europe during December, the cousins not coming after Christmas (which will make for a quieter holiday), Christmas lists made, a fake tree in the garage, which we'll probably (for budgets sake) break out again, and our holiday activities lined up on the calendar.

I would like to decorate a tiny bit. Maybe I'll just put the holiday wreathe on the door. I'll wait to get the rest out, until I have a handle on the house. XX