Wednesday, February 27, 2013

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

Monday, February 18, 2013

Running with Luci

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

Sunday, February 17, 2013

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.