Wednesday, December 25, 2013

Merry Christmas!

Unfortunately, this Christmas broke with tradition. Instead of heading down to Ft. Lauderdale to enjoy fun in the sun, Bryan got the flu and I had to pick up Ellie from school for being sick. So both have been miserable since Friday. I guess I have as well, taking care of sick people is not my thing, that's why I'm not a nurse. We were going to leave Saturday, then maybe Sunday or Monday... but no. So there are no presents and few decorations since the cancellation was so last minute. Luckily Ellie has no idea what Christmas is so she's not complaining.

Wednesday, October 16, 2013

Sentences and September

Last week she started speaking in 2-3 word sentences and expanding her vocabulary. Her teacher also noticed it and today at the speech therapist we were told how great her speech is coming along. So far she has said, mama sit; no, ellie eat; sid, where are you (Sid is our foster pup)? She's also managed to say off/on when she wants the lights or tv off or on. She's also currently obsessed with "Wheels on the Bus." I'm starting to really hate that song.

Friday, October 4, 2013

Goodbye GI!

Our GI doctor was probably one of the few doctors I felt like actually heard and understood me, and I really understood him. We were always in sync. That said, the looming threat of feeding tubes and having another specialist in my daughter's life just isn't cool. Today, however, we got to say goodbye. With the new diagnosis of CdLS, Ellie gets a different growth chart and on this growth chart, she's in the 95th percentile. He also said that unless she stops growing, or gets sick, we don't need to see him anymore. We can also stop feeding her the periactin because it's not serving a purpose other than making her tired. I guess this is the one upside of a new diagnosis.

Sunday, September 15, 2013

DS Blog

My friend Morgan keeps a blog about her twin girls, one with Downs and one without. I recommend it. http://morganls.wordpress.com/2013/09/15/the-best-part-of-waking-up/

Friday, September 6, 2013

Cornelia de Lange Syndrome

I have finally come to terms with Ellie having a clinical diagnosis of CdLS. I know, I know, took me long enough. I just... hate to think of my child having even more problems. And this one is permanent. At least with PRS she could have outgrown it. At least she has a very mild case and is likely to lead a mostly normal life. I joined the CdLS National Foundation. I received a phone call from a lovely and friendly lady who answered all my questions and asked some about Ellie. She's sending us literature. We've already met some CdLS families here in GA. I told her teacher and asked if it makes any difference at school and it really doesn't. I found it interesting that CdLS can cause a cleft palate.

Saturday, August 24, 2013

3 year check up, genetics

The three year check up was actually a delight. Everyone in the office was just stunned at what a big girl Ellie has become and were excited to see her. The pedi thought he heard a murmur but since her newborn cardio scan was clean and no one else has ever heard it in her billion appointments, he chalked it up to her being upset. No shots, which was nice. He even hugged me and said he always knew Ellie would turn out great because she had great parents. That really made me happy. He also thanked me for doing such a great job with her. Always stuns me to hear it. I just... do what I do. Nothing special. At least from where I sit. Outsiders, I guess, see it differently. The genetics appointment was a large disappointment. The new geneticist was nice enough, and our usual genetics nurse was pleasant. The geneticist came in and gave her a once over and then left. Our usual contact reviewed the fact that while Ellie shows "soft markers" of Cornelia De Lange Syndrome (short pinky finger, uni-brow, long eyelashes, body hair) there is no scientific proof that she has it (the genetic testing all came back clean). The contact offered more testing, but the chances of finding anything were less than 5% in one test, and 37-47% on the other. Further, she explained, it would only be useful if we were pregnant or having another child. I declined (and husband agreed). Essentially, she said, it comes down to keep doing what I'm doing with Ellie and we can call if we have further concerns and need her to write an order (for neuropsych, for example).

Tuesday, August 13, 2013


Ellie seems to really like her school. Today is day 5 and we've already seen a great jump in her speech and willingness to follow directions. Her teachers are fantastic. She isn't eating much, if at all, but not without urging from the teachers. She eats in the room with her 4 other classmates so it's not like she's greatly distracted. If I go in it will only set her back with separation and eating independently. I pack her lunchbox to the brim with all kinds of food- pureed fruits and veggies, raisins, sandwiches, cheetos, graham crackers, cookies... she flat out refuses. Tomorrow is the pediatrician for her 3 year check up so that should be a mess.

10 things I wish I would have done

I can't take credit for this, but I can strongly urge all special needs parents to read it and follow it. http://www.mostlytruestuff.com/2013/08/10-things-i-wish-i-had-known-about-special-needs-parenting-from-the-beginning.html

Monday, August 5, 2013


We were super early to the elementary school orientation because I was nervous and because I had seen the havoc at another elementary school orientation. It started at 8, we were there at 7:20. I let Ellie walk around and get comfortable. The names and teachers were listed on the doors outside the office but it started at Kindergarten so we had to ask the ladies in the front office who Ellie had. They said she had hit the jackpot and gotten Mr. Mike. We had heard that the only male teacher over there was, in fact, the best. So we are very excited. Everyone at the school was very, very nice and helpful. We waited in line to get to the cafeteria where a nice lady handed me a slip of paper to fill out. Then we went into the cafeteria where we were given a packet of info to fill out again. Ellie was very well behaved and stayed with me the whole time. Not to say she is a saint because there is a very real possibility she was simply scared to death with all the other people doing things around her. We filled out paperwork, tried to turn it in but we needed a car rider number. So we went to the transportation table and incidentally met Ms. Katy, the parapro. We were told we don't need a car number and went back to turn things in (where we met Ms. Katy's mom). We then went to meet Mr. Mike and see her classroom. Mr. Mike lives up to his sparkling reputation. He was very kind, explained everything to me, answered all my questions, asked a few of his own. Ellie just made herself at home with the dolls. He and I appear to be on the same page on everything, so that really makes it easy for me to trust him. I met another child's mother who seems nice enough. Evidently this is her son's second year in Mr. Mike's class. The classroom is lovely. Ellie gets out an hour earlier than I had thought. Everything went so well and I am so please with everything, but... I wouldn't be a mom without some hesitation and sadness. My baby was already so grown up today and is going to mature so quickly during the school year. Tomorrow is the last day we'll have a free day together without school hanging over our heads for the next 15 years or more. Suddenly I'm desperate to be a stay at home mom more. I want nothing more than to be here for her when she is done with school in the afternoon. This day really snuck up on me and I wish I had done more to really savor this summer.

Wednesday, July 24, 2013

Speech, genetics

Ellie is absolutely in love with Ms. Kaz, her new speech therapist. So much so, Ellie was distracted and unable to fully participate lol. I like her as well. I'm very satisfied with our first official therapy session with her. Genetics called. Evidently all of Ellie's tests came back negative and clear. No spot growth hormone problems, no thyroid issues, and the Cornelia De Lange was negative. Should be good news, right? *BUZZ* Wrong. The geneticist, the pathologist, and even myself are convinced she still has it. The test is only 60% accurate and only tests 2 markers so there is a very real possibility Ellie still has it, as we all think. Now we have to go back and meet with an expert to see if we need more labs and/or blood drawn. Good times, good times.

Saturday, July 20, 2013

Clinic, Big Girl Bed

We upgraded Ellie to a used toddler bed from Craigslist. At first she loved it but then went back to sleeping behind the door. *sigh* Yesterday we spent 4 hours in clinic. It's a long story but the short version is that Ellie's perfectly fine. Here's the long version. The appointment was scheduled for 9:10 a.m. and Atlanta traffic is extremely fickle so we left around 8 a.m. We made it there by 8:45. I remarked to Cheryl, the lovely receptionist I always talk with, how it was going to be a long day since we were here for clinic and not our usual speech therapy. The woman behind me remarked that clinic isn't so bad and it would be fine. I told her that had never been my experience at CHoA with clinic. The waiting area began to get overcrowded with people sitting on the floor, backs against the wall, and just standing around. Sure enough, a PA comes out stating that the surgeon, our surgeon with whom we were scheduled to meet, was in surgery running at least 30 minutes behind. All rooms were currently full, but once he arrives and rooms began to empty they would begin bringing people back again. *sigh* That meant it was truly going to be another clinic day- an all day annoyance where various people poked and prodded my tired toddler who had an annoyed and tired mommy. We got weight & height checked and then sent back to the waiting room. Ellie made a new boyfriend named Liam. His whole family was funny and wonderful, so I offered my email since they live in the next town over (Snellville). We finally got a room and waited. The dentist stuck his head in to say he'd clean her teeth last since kids tend not to enjoy that process. So we waited and waited and waited. I turned on the TV but Ellie wasn't terribly interested in it. All she wanted to do was slam the door and push the phone buttons. Finally the speech pathologist and the new speech therapist (not that stupid girl we got last time) came to evaluate her. They felt she was on track (for her, not for regular 3 year olds). The new speech therapist did a pretty good job of getting Ellie to repeat some words. Ellie had kept her hands in her mouth (along with trying to eat the chair and the window sill). Between being tired, sucking on her hand, eating foreign objects and having a hoarse voice because of her cold, I think she did great. The surgeon came in. Ellie wouldn't open her mouth for him and he said if she's not snoring and talking fine, then she's fine. We can come back in a year. He left, Ellie set off the emergency alarm for the room. Finally it was the dentist's turn. Ellie did amazing! She was unhappy but no tears and would repeat "AH!" when the hygienist or I asked her to do so. Her teeth, while crowded, looked amazing. She did so well, in fact, she got TWO prizes AND a new toothbrush. Even the hygienist said to call daddy and tell him what a good girl she was. Nearly everyone asked about the genetic testing, and I explained that we were still waiting so I imagine the geneticist is going to have several emails from people asking about it- the speech pathologist, the surgeon, the dentist....

Friday, June 28, 2013

School info

The meeting for the school was really easy. I met with the school coordinator and a speech therapist for the school district. They reviewed with me the findings of the evaluation so everyone would be on the same page. Then we went over the goals for the year and the objectives (Baby steps) to get Ellie there. I agreed with all the objectives and goals, signed some paperwork and they said she would be in a cross-categorical class at Shiloh Elementary. She is supposed to attend from 7:45-1:45 five days a week. She will not be riding the bus, one of use will be taking her.

Thursday, June 6, 2013

It's been a while

No surprises since I'm a lazy SOB. Ellie's last day of daycare was May 30th. The owner sold the place. We were so sad to see it go. Her teacher, Ms. Sabrina, wrote a glowing evaluation of Ellie for her intervention program. Ellie reached 25 lbs so that was exciting to see. Unfortunately she was sick this past weekend and got sick again today. Hoping that isn't causing any weight loss. 25 lbs at least gets her on the chart, if barely. She also had a great growth spurt. It seems everything is within her grasp, which can be... scary. LOL Today she had her eligibility evaluation from the state's early intervention program. They consider her incredibly intelligent, expressive, and independent. However, her lack of speech was enough to get her into the program. Right now it looks as though she will be attending Anniston Elementary in August. In two weeks I go back to discuss the results of the evaluation in more detail. Then we'll have another meeting before her third birthday to iron out more details. She still loves LOVES LOVES music. We have dance party - we put on the music channel and everyone dances. She loves the song "Cups" by Anna Kendrick and insists on listening to it all the time. Literally. She makes us rewind any thing - commercial, program, even the radio - that has music she enjoys (which is mostly everything). She can already sing many melodies, including twinkle, twinkle/abc and some of the songs she hears on the radio or tv (Taylor Swift).

Friday, May 3, 2013


Ellie goes from Babies Can't wait into another program when she turns 3. I called my services coordinator to ask a few questions. First, she does not have to go to daycare/school etc. I can keep her home with me. I can also continue to let her go to speech therapy at CHoA. What will happen is the evaluator decides how many days she needs to go to school. Let's say its 5 days. They will pick the school closest to me that offers speech 5 days a week. They have transportation to and from the school. We would not need to pay because it would be the equivalent of going to public school. I can even say that I want her to go 3 days to school and stay home with me two days. Maybe she only needs 3 days of therapy. We'll find out in June.

Friday, April 19, 2013

Speech, Boston

On Wednesday, it was a horrific day. We got a call first thing in the morning telling us that somehow someway the test for Cornelia De Lange did not get run and we need to draw blood, again. So I (naively) stated I would do it after Ellie's speech appmnt at 10:40. The car had nearly no gas (thanks hun). We hit a ton of traffic. We hit construction. The MOB parking deck was full so we had to park at the hospital. Ellie had taken her shoes off so I had to carry her as we ran to the appmnt. We ended up being only 2 minutes late, and the waiting room was filled with about 50 kids (no exaggeration). It was PACKED. Even the speech therapist said she had never seen it that busy since she's been working there. We get into speech therapy and Ellie starts talking like it's nothing- saying "more bubbles" and repeating pretty much anything the speech therapist would say ("C'mon. Bob! Up bill!"). Ellie even blew some bubbles, which meant she was properly closing her nasal passages and using her lips. It was all very exciting. Of course by the end of the appmnt Ellie stopped caring all together or talking or being helpful. She had woken at 6 and it was nearing noon so she was probably hungry and tired. I sallied forth to the hospital for her blood draw. I fed her snacks during registration and let her look at the fish tank, pet the therapy dogs, say hi to the Braves mascot. I realized she needed a diaper change. After we signed in to the lab I changed her diaper with the last diaper in the bag. We waited and waited and waited and waited. After 45 minutes, the tech comes out and says it will be just a bit longer because she needed to coordinate with their outside services person. Then she asks for my insurance card. I'm like whatever, let's do this. I'm so stressed and tired and hungry and irritated. Then she comes back and says, "You realize this is a $6,000 test?" I say, "Okay? So? It's not an optional test. We have to have this done." She says, "Well I don't know if it's covered or if you have a deductible or whatever." I said, "We already met our deductible." She says something to the effect of, "okay I'll be back." After AN HOUR we get called back. AN HOUR. By this time its nearly 1:30, my daughter hasn't eaten or slept in hours. I'm livid. Ellie pooped AGAIN and I had no diapers. She's not acting out, thank goodness. I am about to. I fed her all the snacks I had, which weren't a lot. I knew she would fall asleep the minute we hit the road, and she did. I had other errands to run but the day was shot. We weren't home until almost 3. I bathed her, changed her clothes, and tried to get her to take more than a 10 minute car nap but it wasn't working out. I fell asleep by 9. Awful, horrible, day. However, we don't live in Boston. There were no bombings at our marathons. No killing of cops, no carjacking terrorists, no robbing by terrorists, no throwing of explosive devices and hand grenades out the window of a stolen car, no police shoot-outs, our neighborhood was not on lock-down while searching for Chechen terrorists.

Thursday, April 11, 2013

Xrays, genetics

The skeletal x-ray was a nightmare. I didn't fully understand what was going to happen until we were in radiology. They take several x-rays of her body from head to toe. It takes 30 minutes. I knew Ellie wouldn't hold still for 3 seconds, let alone 30 minutes. They had to have several people try and hold her down. She became so upset she threw up, multiple times. The bone age test was just an xray of her hand, which I already knew. Genetics called with the results from the x-ray and the thyroid results from the blood draw we had to do (which cost us $950, thank you United Healthcare). The bone age test was fine, the bones showed no indication of Stickler's or other problems. Her thyroid is normal. So now why is she small? Does this mean feeding tube?

Saturday, March 23, 2013

Transitioning to pre-pre-k

You read that right, it's not a typo. She has to transition out of the Babies Can't Wait program (part A) into Part B. I'm still a little confused, though. I'm not sure I have to make her go into preschool next year. If I do, it has to be in our county so she can continue services while in school. That said, if I go back to work, she will likely end up in daycare/pre-k anyway. The meeting was very simple. I had filled out a packet left by our services coordinator with all the info they provided. Ellie played in a room full of toys while the services coordinator, myself, and the other educational lady talked about her diagnoses. There was very general conversation about her well-being, not much specifics. The lady gave me a packet of info, like how they classify, identify, categorize, etc. the children. They also gave me a progress chart for 0 months through 5 years. It sucked. It made me feel like she was way further behind than I had originally anticipated. After much review and chatting with friends she's not as bad as I thought. Most of her other skills are either on par or ahead for her supposed age group. Only her speech is seriously lagging. At any rate, we'll worry about putting her in a program if I end up getting a job.

Friday, March 8, 2013


*Sigh* The geneticist said that Ellie may have "Cornelia Da Lange" and not PRS. Of course, it's nearly impossible to tell because the symptoms are so identical to PRS: Low birth weight (usually under 5 pounds/2.5 kilograms) Delayed growth and small stature Developmental delay Limb differences (missing limbs or portions of limbs) Small head size (microcephaly) Thick eyebrows, which typically meet at midline (synophrys) Long eyelashes Short upturned nose and thin downturned lips Long philtrum Excessive body hair Small hands and feet Small widely spaced teeth Low-set ears Hearing impairments Vision abnormalities (e.g., ptosis, nystagmus, high myopia, hypertropia) Partial joining of the second and third toes Incurved 5th fingers Gastroesophageal reflux Seizures Heart defects Cleft palate Feeding problems Hypoplastic genitalia Children with this syndrome are often found to have long eyelashes, bushy eyebrows and synophrys (joined eyebrows). Body hair can be excessive and affected individuals are often shorter than their immediate family members. Ellie was small at birth, small stature, delayed, small head, unibrow, long eyelashes, eye sight issues, reflux, cleft palate (which led to feeding issues). At any rate, bloodwork will be done. The geneticist will also be checking her thyroid and hormone levels to determine if the small stature is genetic and not something we can overcome. The geneticist also wants us to go see the ophalmalogist sooner than Ellie's birthday and get a bone age test. If the bones age shows the same age or older, it's a problem, likely associated with the CdLs. Ellie will also be getting a skeletal xray. In essence, everyone's just looking for an explanation to everything. I thought PRS was it but may be not. Her eyebrows aren't bushy or arched, but she does seem to have other issues, but again, thought those were attributable to PRS. The only real difference would be that they would need to check Ellie's kidneys if it is CdLs.

Saturday, February 9, 2013

more vocab

Yesterday Ellie's daycare teacher says that Ellie pointed to her friend at daycare and said her name. Awesome. This morning Ellie has said buppa, pop-pop, and pretty.

Wednesday, February 6, 2013


Today Ellie's daycare teacher came into my office in the back to let me know that Ellie is talking. I guess I'm so used to it that I didn't realize it was news to her. She said that she would tell a child no and Ellie would repeat "No." She said, "We'll be right back," and Ellie said "Back." I've noticed that she also tries to imitate words and the intonation of what I say. The other day I was singing "turn this party out" and I heard "out" from the back seat. Ellie's current vocabulary out up bath no yes help (hep) off on hot hi bye "Ah" means peanut butter Ma is Max I'm mum mum Daddy is da-da I've heard her say Raspberry, banana, and monkey but only once so its infuriating. In the same vein of maturity I took her shoes and socks off and set them on the floor. She immediately picked them up and took them to her room to put them away.

Tuesday, January 29, 2013

speech therapy

Today was a great speech therapy day. Ellie was perfectly happy and comfortable, talking a bit. Ms. Katie said that Ellie is one of her most imaginative kids, always playing with everything - today it was gloves and a mirror. She said up, hop, help ("hep"), and thank you (the sign). Ms. Katie said that because of Ellie's progress our continued twice a month sessions are perfectly in keeping but if she falls behind, we can always move them up and increase frequency. I'm so glad Ms. Katie got to hear Ellie chatter a bit. At one point Ms. Katie said she was just going to sit back and listen to her while Ellie chatted with me. It was just so sweet and wonderful. I'm very proud.

Wednesday, January 23, 2013


SUCK ON THAT! Sorry my beginning isn't more professional but I'm just so excited. The GI officially took gtube off the recommendations and cancelled her biopsies. In fact, we're back to seeing the light at the end of the tunnel. Weighing in at 22 lbs 3 ozs when totally nude and just shy of 34 inches tall, she's only a few pounds from the 3-5 percentile! If she continues, she will have 2 more visits and be cut loose. So the key is duocal, heavy whipping cream and peanut butter for us lol. Most 2 year olds gain about 6 ozs a day, Ellie gained closer to 7 (6.6, at least). WOOHOO I SAY! WOOHOO

Sunday, January 20, 2013

ENT, Speech Pathology, I love you

Last Sunday Ellie finally said "I love you mama." If I hadn't been so exhausted I would have cried. It made me incredibly happy. We were hiking for 2-3 hours and I had to carry her most of the way. By the end she was so tired she was just snuggling up to me and when we were maybe 20 feet from the car she said it. I said, "I know, baby, I love you, too." Bryan giggled. On Monday Ellie had her follow up ENT evaluation. It was an amazing appointment. First, when they weighed her she came in at 23(!!!!) pounds!!! HOORAY!!! Second, her hearing was tested as just fine. :) Tuesday was her speech pathology appointment. As usual, she wouldn't say a word. We have speech twice a month beginning next Tuesday. Tuesday is Ellie's GI appointment. I'm hoping we can fatten her up and make the GI even happier.