Clara 20 months

Clara turned 20 months old on January 2, 2014! Time keeps on passing us by. . . quicker than I would like to admit. Seems to be the case every month, for every parent, no?

So what's going on in Clara's world at 20 months? She currently has therapy four days a week (OT 2x week, ST 1x week and ECI home therapy 1x week) and she also attends a little Mothers Day Out Program 2x a week (per recommendation of each and every therapist she sees on a regular basis). She is one busy girl, but is making great, great strides. We are so proud of her!

I'll let the following videos do most of the talking. . . And yes, I pretty much cry any time I watch these.

She is learning how to walk behind a walker & is showing more and more bravery in her steps. She hasn't taken a step unassisted yet, but we are hopeful it will happen. A few times she has been cruising around our ottoman and, in an attempt to get to the couch, let go and balanced for a few seconds prior to falling down.

We been working hard on teaching her how to use a sippy cup. She's getting the hang of a straw cup slowly but surely! She also held her bottle by herself and lifted it to her mouth FOR THE FIRST TIME EVER. See below. (Still using the bottle some as we transition fully to a sippy cup).

We have also been working with her on how to use a fork. She successfully got it to her mouth once!!  Did you know that for toddlers a fork is easier to teach, before teaching how to use a spoon? Therapist enlightened me on this and it's proving true thus far! For some reason I always thought opposite.

Also been spending lots of time outdoors on the trampoline this month. . . she loves it!

(That's my dads voice in some of the videos just FYI - for those of you thinking that it doesn't sound like Brandon, ha!)

Other areas of development:
She is (now) a rock star eater! She will eat pretty much anything we give her, with the exception of meat. She even ate a pb&j and grilled cheese sandwich recently. We still have to cut everything in tiny bites, and hand them to her a few bites at a time, but don't care because she is eating regular food!

Her glasses are proving to be a great decision. We truly believe one of the reasons she is coming so far in different areas, simultaneously, is due to her improved vision.

She has started making more sounds/noises. I wouldn't call it babbling, but it is encouraging to hear her be more vocal in general. We are working on baby sign language and a few times she has signed "more" and "all done." Other signs we try to use frequently are "milk, ball, swing, mommy, daddy, help, blanket, sleep, bath and eat." Her therapist has started experimenting with an augmentative electronic device. Clara has done well with it so far, so this might be something we implement in the near future. Many kids with Cohens Syndrome have such a device to help them communicate.

Oh, and she became a big sis this month!! She is pretty much unfazed by Camille, unless, heaven forbid, Camille starts crying and then Clara has a meltdown (the noise. . . a sensory thing). So. . . it's not uncommon for both kids to be crying at once. Which pretty much breaks my heart every single time, since I am still not allowed to lift/pick up Clara (due to the c section recovery). I am sure Clara will become desensitized over time, but I'd be lying if I said this issue isn't just a little overwhelming/heartbreaking all at once.

Checking out her little sis . . .

Adventures:
Not too many in our near future (hello life with a newborn) but we "met" a family that lives in Katy, Texas who also has a 20 month old daughter with Cohen Syndrome. How amazing is that? We are both members of a FB group for parents with a child who has Cohens. We have messaged back and forth quite a bit, and we hope to meet them, in real life, sometime over the next few months. We cannot wait!

Until next time. . .

Clara 19 months . . . and a million more pink glasses pics

19 months on 12/2/13. . .

Can y'all tell I am getting lazier and lazier with the whole monthly sticker thing. Slapped it on her pajamas one morning, put a headband on her, and called it a day. I tried to have her face the Christmas tree, as watching the twinkle lights always makes her smile, but she really just wanted to lunge and reach for it the entire time. :)

Not much has changed overall since 18 months other than a definite diagnosis and. . .

Baby girl is ROCKING HER GLASSES!!!

So, so very proud of her. Yes, she fights them from time to time but y'all, for the most part she keeps them on. We definitely didn't give her enough credit going into this because we were for sure it would be a fight. Meltdown beyond meltdowns, for days, so to speak. But nope, she seems to have taken to her newest accessory.

Pink itty bitty glasses = cutest thing ever in my book.

Until next month. . .

Cohen Syndrome

I mentioned in this post that we learned some news a few weeks ago that was somewhat hard to hear, take in, and process. While at the time I wasn't ready to disclose all the information, I think now I am in a better place. (Still in a hard place no doubt, but better place than two weeks ago).

We received the results of the whole genome sequencing genetics test that was done on Clara back in July of this year (blood was taken on all three of us). We knew going into this test that if there was a firm reason for Clara's global developmental delays and various issues, this test would give us that reason.

And it did. Results showed that she has a mutation in both copies of the VPS13B gene, located on chromosome 8. Translation. . .

She has Cohen Syndrome.

Cohen Syndrome is a very rare autosomal recessive genetic disease (think. . . fewer than 1,000 cases worldwide) that affects motor skills and intellectual development.

So how does this happen???

Here's a little biology lesson b/c we all know I needed a refresher to understand all of this:
Individuals who have a faulty gene copy on one chromosome, and a working copy of that gene on the other chromosome, are said to be carriers. Carriers for the great majority of conditions that are due to autosomal recessive changes are usually not affected by the genetic condition. Although only one of the gene copies is working, the cell can usually still work with this reduced amount. Yet, when two carries of the same faulty gene have a child (me and Brandon), each parent has a chance of passing on either the faulty gene or the working copy of the gene to that child. There is a 1 in 4 chance (25%) that they will have a child who inherits both copies of the faulty gene from his/her parents. In this case, no working gene product will be produced and the child will be affected by the condition. This is the case in Clara, who has inherited both copies of the faulty gene from me and Brandon, responsible for Cohen Syndrome. Camille, and any future children, also have a 1 in 4 chance of having Cohens.

We are still somewhat in shock that Brandon and I have a mutation on the exact same gene. And that both of our mutations were passed to Clara. Talk about crazy.

When Dr. L, our geneticist, shared the results and started to explain how this syndrome explains all of Clara's issues/struggles including her global developmental delays, Microcephaly, large range of joint movement, extreme nearsightedness, sensory issues (and some Autistic like behaviors), and other identifying features such as her thick hair, and unibrow. . .  it all started to make sense because ALL of these are symptoms of Cohens. Really. . . it all just seems to fit.

A few other things we were told about Cohen Syndrome:

All children with this syndrome fall on a spectrum (much like Autistic children do). Some develop fairly well and can function more independently, while others do not. There is really no way to know for sure and only time will tell.

Kids with Cohen's typically walk between age 2-5, speak first words between age 1-5 and speak in sentences between age 5-6, and about 20% of children fail to develop verbal language. 

One significant feature of Cohen Syndrome is progressive vision problems, notably extreme nearsightedness and degeneration of the retina. The retina gradually reduces in function, causing poor vision in dim light and loss of the outer range of the visual field. Older children find it particularly difficult to see in reduced or dim light. Some experience night blindness by age 10. Some will eventually go blind. Clara will need regular and close visual monitoring, in view of her diagnosis.

Another specific feature of Cohen Syndrome is a low number of white blood cells. This is called neutropenia. We all need white blood cells to fend off infections, therefore some infections may occur a little more frequently in children with Cohens, however it is rare to have a severe infection due to this diagnosis. She will have to be monitored throughout her life for low white blood cell count.

There is a lot more I could type and say about Cohens, but I will spare you all that and just point you to these links if you are interested in reading more and digging deeper. . .

Cohen Syndrome
Cohen Syndrome/Counsyl
We ARE Cohen Syndrome

Some good news:
While kids with Cohen Syndrome take a long, long time to hit their developmental milestones, once a milestone is achieved there is no regression seen. Meaning. . . once she hits a milestone it is here to stay! For this we are so thankful!

We were also told that we are already doing all that we can for Clara at this time, and there is no new intervention or therapy needed. So we will continue with her OT, Speech (eval set for next week), ECI and frequent/ongoing eye examinations.

We were also told that Clara is most likely farther ahead than most children at this age because 1-we have had her in therapy since she was 7 months old and 2-we got this diagnosis at such an early age (18 months) when most children are not diagnosed until much much later into childhood.

While this is a rare genetic disease, we have already found support via two Facebook groups of Cohen parents and other outlets. It is good to know we are not alone!

We are sad for Clara, naturally, but thankful that the news was not worse, as it definitely could have been. We, as usual, are just taking it one day at a time, one step at a time, and trying not to let any worry or the "what ifs" take up space in our thoughts. We are also thankful that after many, many months of testing, questioning, and uncertainties, we now have a firm and confident diagnosis for our little girl.

And above all, we know and believe that God is greater than any diagnosis or probable outcome and therefore our hope remains in Him. God is good. All the time. And He has mighty plans for Clara.

Time to keep moving forward. . .

Clara 18 months

18 months old . . . November 2, 2013!

Loves:
Anything musical and/or with lights
Swinging at the park
Knocking on the doors/windows
Playing in the mirror
Books - I am loving that she is loving books so much these days!
Bath time - the girl could spend hours in the bath and be perfectly content!

Does Not Love:
Dogs barking
Toilets flushing
Babies crying and/or children screaming/shrieking (even if they are happy screams/shrieks)
When the entire congregation claps at church, or like setting
Diaper changes (think she is still recovering from when we had to lay her down and give meds over and over again, during the week of molar craziness)
When we take her from her toys to go eat, get in the car, etc. She totally throws a pity party, ha!

Love this side shot of her hair. . . 

Sleeping:
Now that we are passed the molar madness (for now anyway) her sleeping habits are back to normal! She goes down around 7:30 or 8pm and wakes anytime between 6-8:30am. She takes one nap a day, beginning between 12-1pm and she will sleep for a solid 2-3 hours.

Schedule at 18 months:
6-8:30am - Wake for the day (her wake time varies daily)
Breakfast & milk shortly after waking
Play, play, play
11:30am or so - Lunch
Play a little bit more
12 or 1pm - Nap begins, she will sleep a solid 2-3 hours (she also gets milk before nap)
Snack after waking from nap and then we play, run errands etc for the rest of the afternoon
5:30 or so - Dinner
Playtime with daddy! Bath time etc.
7:30pm - 8pm - Bedtime
**Therapy obviously thrown into the mix several days a week!**

Eating:
Y'all - her eating has exploded this month. Thankyoulordforthisgoodgift. Here is a list of what she will eat & SWALLOW as of today. Our plan is to keep trying new foods each week!! Now. . .  she is not yet at the point of totally feeding herself all of these items (meaning, I still have to cut up most everything really small and hand them to her one at a time - if too much is on her tray she will become overwhelmed, have a meltdown and not eat), but right now I DON'T CARE BECAUSE SHE IS SWALLOWING THE FOOD! Can I get an amen?

Strawberries
Peaches (small ones from the fruit cups)
Bananas
Cheerios
String cheese
Goldfish
Graham crackers
Veggie sticks (the chips that are made from veggies, not actual raw veggies, ha)
Toddler spaghetti-os
Cooked carrots and peas (although peas are hit or miss)
Cooked noodles (again must be small and in some type of sauce)
Cereal bars (her fav is anything apple cinnamon flavor)
Pancakes (tried for the first time Sunday!)
Stuffing (totally random, but we had a Thanksgiving feast with our church small group and we decided to give it a try. She was LOVING it and taking bite after bite off of Brandon's fork!)

We are also working on a straw sippy cup (patience and practice are the name of the game. . . easier said than done some most days).

She still won't really swallow meat. Other than cheese (and yogurt) any recommendations for protein? I tried putting some peanut butter on her pancake this morning and she did ok. Might try scrambled eggs this week. Other ideas from you experienced mommas?

Development:
Clara is pulling to stand on just about anything. She even just learned how to pull up in her crib! She is able to side step up and down the couch or ottoman and is growing more confident each day! She is not quite cruising or anything like that, but you can tell she really wants to make it happen! In therapy we are focusing on getting her cruising, using two hands to manipulate items, and passing one object from hand to hand. We are also working on social interaction and communication cues, even though she is non verbal.

And as mentioned, her eating has exploded this month!

Love that she squints her eyes when she sports a big smile . . . 

Therapy news & misc:
Clara goes to OT twice a week, on Monday and Tuesday mornings. ECI also comes to our home once a week (day/time changes weekly based on our caseworkers schedule).

We just recently learned that our insurance has APPROVED our appeal for speech therapy. Thank you, Lord!! This was a long, hard fight but worth it! Clara goes for her initial speech evaluation on December 10th. At the eval, the therapist will decide how frequently she will need sessions.

We are still awaiting blood work results from the whole genome sequencing that was done earlier this year (blood work was done on all three of us in July).

She was fitted for glasses this past Friday. They will come in, in about two weeks. Please pray for us. She was fighting every step of the appt. - from holding the lenses up, to shining the light in her eyes, to the actual dilation, to the fitting and measuring. Major. Meltdowns. Dr said most kids fight the glasses for the first 2-3 days and then they accept them. She mentioned that for our sweet Clara, we can expect a fight for about a week or tad longer. Again, prayers please!! I will be sure and post pics once the glasses arrive!

Stats from her well check earlier this month:
Height - 31.5 inches (41%)
Weight - 21.5 pounds (33%)
HC - 17.01 inches (0%) - While some professionals are more concerned with her Microcephaly, her pediatrician is not, so we are thankful. 
BMI - 15.1 kg/m2

Think she's had enough pic taking for one day. . . Look says it all. 

Adventures:
We are excited about Thanksgiving and Christmas this year! It will be fun having a toddler that is a little more aware and into the festivities! We will be with Brandon's family for Thanksgiving and mine for Christmas day. Can't wait!

Growing molars. . . not for the faint of heart

So remember when I blogged last week about how Clara was sick and we got that antibiotic after she cried for four hours straight??? Looks like we found the reason. . .

M.O.L.A.R.S. 

No one prepped me for the craziness that is when your toddler starts cutting molars. People!!! How does no one talk about this? Or did I just not care to take notice since we had not yet hit that phase of toddlerhood (very possible)? Or maybe you are one of the lucky ones whose child didn't even notice their molars were CUTTING THROUGH THEIR GUMS. If you are that person, I do not like you right now. Maybe in a little while. . . but not right now.

The past six days have been a flashback to Clara's colicky days and thus, has brought on a teeny amount of anxiety about having a newborn again. Baby girl #2 - I will love you unconditionally, regardless of how high maintenance you are, but can I say that you would make your mommy & daddy really happy if you did not hold your older sister as the gold standard between age 6-12ish weeks? Ok? Thanks in advance for that.

Our poor Clara hasn't been eating, drinking liquids (meaning there were several days in a row she ate nothing, and drank only 6-8 oz in a 48 hour period & would meltdown at the sight of her bottle or anything that we tried to lift to her mouth), taking her beloved paci, and pretty much has been crying all the time, day and night. Nights are the worst and poor thing only sleeps 3-5 hours a night.

We even took her to the ER Saturday night (before we had confirmation that molars were the culprit). While she didn't have a fever, and I knew there probably wasn't much they could really do, we just had to be sure that there wasn't something severly wrong that we were overlooking.

These videos are from last Friday. One of our more MILD days. Things were only starting to take off at that point. How pitiful is she???? Breaks my heart.

Look at that tear mid cheek. . . sad!

Lots of snuggles in our pjs. . .

One morning after we finally got some meds in her. She crashed. And no, she never took that milk you see in the background.

My little mouth breather. . .

We have watched a lot of Baby Einstein over the last six days. More than she has watched in her entire life for sure. One of the only ways we could calm her down in the middle of the night.

This was Sunday night (or should I say Monday morning?). 2:30am she finally surrendered and fell asleep in our bed. Then woke at 7:30am crying.

Dad got lots of snuggles in as well. . . 

Yep, her face says it all. . .

Praying our girl gets some relief soon, and that these silly teeth will just make their way through her gums already.

Side note - last night was MUCH better. She slept a little under 6 hours without waking up once. She got up at 4:30 crying in pain, but that is MUCH improved from the days prior. And so far today has been going better as well. Thank you, Lord. That said, I took my first shower in 6 days. Ha!

Another side note - Turns out that kids with sensory issues, especially those with oral aversions/sensitivities/defensiveness, have an extra hard time when cutting teeth, especially the beasts that are molars. Interesting, right? Makes sense why this has been extra hard for sweet Clara. 

How did your child handle teething/getting their molars? 

Any survival tips to share?