Update on Clara's development: where things stand at 13 months

Some of you have been asking how Clara is doing, developing, and if there are any recent discoveries in terms of testing, appointments or possible diagnosis.

I will try to keep it brief and refrain from explaining every little thing, so any big words or disorders I did not link to, just google if you are interested.

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In this letter I wrote to Clara back in February, I mentioned that we would be meeting with the Genetics Department at Texas Children's Hospital.

We met with them in May and the following sums up our appointment. . .

• The geneticists ARE NOT concerned with Clara's chromosome abnormality (The Microarray genetics test showed she's missing part of her Chromosome 4). They noted that the portion she is missing is very small, and not linked to any specific disorder or cause of concern (at least not yet, not enough research). They are running the Microarray test again, just to make sure they get the same results twice, but at this time, the chromosome abnormality isn't the biggest area of concern. So that was encouraging news! 
• The geneticists ARE concerned with the following: 
• Clara's head size - said it's not growing in proportion to her height/weight (which we already knew based on her Microcephaly diagnosis)
• Developmental delays - both motor delays and social/verbal/language delays
• Dysmorphic facial features - specifically, they mentioned her unibrow, sunken eyes, ear shape and small chin. They mentioned that the dysmorphia can be subtle, so someone not trained in genetics could/would easily overlook said features.
• Repetitive shaking of head
• Repetitive flapping of hands
• Other odd behaviors like her sensitivity to certain sounds, lights, etc. 
• They also want to run a whole genome sequencing genetics test. This is a much more extensive test than the Microarray and would 1-hopefully give us more solid answers (in terms of a diagnosis) and 2- tell us what percentage any future children will have the same delays/diagnosis (if a diagnosis is given based on test results). Blood work will be run on all three of us, and test results take about 5 months (talk about torture).
• They also referred us to a well known Autism clinic in Houston to have her evaluated for Autism, or spectrum disorder such as Aspergers, PDD-NOS, etc. The wait list is like 500 miles long, so she will most likely be 18 months before we get an appointment (which would be a much more appropriate age for an Autism diagnosis should one be given).

I think that about sums it up with the geneticists. 

Clara had her eyes reexamined by a really cool NeuoSensory Eye Clinic and the Dr. confirmed that yes she is nearsighted, but also saw some concern with the way Clara tracks objects. I had not really picked up on this prior to the Dr. pointing it out, but Clara moves her entire head when she tracks, instead of only moving her eyes. The Dr. said that this is an important skill that also plays a part of the 12-18 month development. She gave us an exercise to help her correct this, but let's just say one of us holding her head still with our hands while the other moves an object around the room is not really her fav. activity of all time. We have a follow up in August. 

Here's the really cool part. . . 

Neither her therapist or neurologist think it's Autism! Woohoo!! Her therapist thinks ALL of Clara's issues are directly related to a Sensory Processing Disorder (tactile hypersensitivity). Y'all - last week her therapist was explaining sensory stuff to me and how it is all related to Clara's delays/odd behaviors etc etc etc and it really does make some sense!! I honestly think she's on to something. Plus, she is the one that sees Clara ALL the time and therefore I do trust her judgement over a geneticist who only saw Clara one day for two hours max. So, we are doing a lot of sensory work in OT, and I can say within one week of only doing sensory work, Clara has made huge strides in crawling. She's not quite there, but getting sooooooooo close.

Clara has started this odd twitch thing (usually while eating, but sometimes while playing) and so the neurologist wants to do an EEG just to make sure she is not having seizures. He's fairly certain she's not having seizures, but just wants to cross it off the list since the twitch came on strongly over the last month or so. She has also started gagging/coughing during meals (sometimes directly after the twitch) so we are meeting with a pulmonary Dr. (same office as neurologist) just to make sure she's not aspirating. He said sometimes this can be an issue with kids that had reflux as infants. 

Here's a recap for those of you going "Ummmmmm that was anything but brief, and I actually think I'm more confused." 

Waiting on insurance to approve the whole genome sequencing (Seriously, it takes FOREVER), then we go for blood work. Wait 5 months for results. Try not to go bonkers during said 5 months. 

Getting on wait list for the Autism eval, but most likely cancel appt. as it gets closer, since neurologist and therapist both strongly disagree with the geneticists referral for Autism eval. 

OT 2x a week

Speech therapy 1x a week

ECI 1x a week

EEG and pulmonary Dr. consult later this month

Follow up w/ Neurosensory Eye Dr. in August

Follow ups with the neurologist every 3 months

Practice, practice, practice all her therapy work at home

Pray, pray, and pray some more

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So. . . That's it! Clear as mud? Thank you so much for all the texts, emails and prayers on behalf of our little girl! We know God has a great plan for her and we are excited to watch Him work as she grows and develops.