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.

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).

Transitioning

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.

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.

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?

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.

Genetics

*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.