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!

Microcephaly Awareness Day 2013

Today is Microcephaly awareness day! Every year, on September 30th, families all over the world gather together in support, to celebrate their children, and bring awareness to the issue that is Microcephaly. I'll admit, I had never heard of Microcephaly before Clara was diagnosed. But today, I have expanded my education and understanding of this issue, and others, that some children face on a daily basis. 

A little bit about Mircocephaly:

Microcephaly (my-kroh-SEF-uh-lee) is a rare neurological condition in which an infant's head is significantly smaller than the heads of other children of the same age and sex. Sometimes detected at birth, microcephaly usually is the result of the brain developing abnormally in the womb or not growing as it should after birth. Microcephaly can be caused by a variety of genetic and environmental factors. Children with microcephaly often have developmental issues. Generally there's no treatment for microcephaly, but early intervention may help enhance your child's development and improve quality of life. (source) 

Some children with microcephaly will be of normal intelligence and development, even though their heads will always be small for their age and sex. But depending on the cause and severity of the microcephaly, complications may include:

• Developmental delays, such as in speech and movement
• Difficulties with coordination and balance
• Dwarfism or short stature
• Facial distortions
• Hyperactivity
• Mental retardation
• Seizure

(source)

Just to give you some perspective on the numbers, at Clara's 15 month appt., her head was measuring 16.73 inches, which is in the 0 percentile. Her height and weight are measuring age appropriate. There is a big discrepancy between her rate of head growth and body growth. 

I encourage you to take a few minutes and do your part. Even if it's just reading this blog post and reflecting. Or reaching out to a family who you know might be struggling.

Oh, and sport something yellow for Clara today! 

(source)

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.

______________________________________________________________________________

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

_____________________________________________________________________________

 

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. 

Dear Clara, (a letter to my girl describing her development and testing over the last three months)

My friend Gillian, upon learning that Clara has been going through some intensive testing due to developmental delays, directed me to her friends blog The Beauchamp Bunch. The mom of this blog wrote a beautiful letter to her little girl, Audrey, who has also undergone lots of testing and blood work because of similar concerns. I thought it was such a sweet idea, that I decided to do the same. I think this will be a great keepsake for Clara someday, when trying to understand all she went through during this time of life, and a great way for us to update all of you.

My letter to Clara is below. . .

Dear sweet Clara,

I can hardly put into words how much joy you bring to our lives. You light up the world around you and each day is such a blessing. Your smile is contagious and completely melts our hearts. You are developing your own little personality which is so fun to watch.

You just turned nine months old. I cannot believe it! Where does the time go? As you know about three months ago, at your six month well check, Dr. O. let us know that she had some concerns with your delayed development, both physically and socially. At that time you were not really making much eye contact, smiling, babbling or laughing, or tracking things with your eyes. You did not seem too interested in engaging with me or daddy, or the world around you. You liked to hang your head down instead of looking up. At that time you were also not sitting up on your own. Dr. O talked with us about some steps we could take to check things out, just to be proactive in helping you meet your milestones and to see if there was any reason why you might be lagging a bit behind your baby friends. Dr. O suggested we get you in Occupational Therapy and that we meet with a baby brain Dr, called a neurologist, Dr. R.

We met with Dr. R for the first time in December 2012. He confirmed that you were showing signs of developmental delays and he also said that your head is a lot smaller than babies your age. He said you have Microcephaly. Because of these two things, he wanted to run lots of tests and also get some of your blood. Mommy and daddy were a little overwhelmed leaving that appointment. We had so many questions and shed some tears, but we knew that God was holding our little family in His hands. We were not fearful, just overwhelmed and a little nervous with all this new information.

You had a hearing test done not too long after that appointment and you did not pass in either ear. This was a repeat of the same test they did in the hospital when you were a few days old. Because of this, you had a more extensive test done, called an ABR (Auditory Brainstem Response), where you had to be put to sleep so the ear Dr. could monitor your brain activity. She put little stickers on your head (called electrodes) that measured your brains response to a little clicking sound. Clara, you passed with flying colors! You showed no signs of hearing loss at all! Mommy and daddy joked that you were just trying to keep us on our toes. :) Silly girl.

You had your eyes checked and other than already being nearsighted, the Dr. saw no concerns with your vision. We were so thankful!

The neurologist did a little test on you called the Batelle Developmental Inventory, when you were about eight months, and the test confirmed his suspicions that your development was lagging several months behind. Based on your results, Dr. R guessed that you would probably start to walk around age two. This made mommy cry but then I realized "Who cares when you start to walk? You have your whole life to walk, so it's really no big deal."

You had to get lots of blood drawn just so we could investigate a little further. These were not fun days for any of us, but overall you were SO strong! Two different times you hardly even cried! Your regular lab work came back fine. Dr. R also ran some genetic tests (they are big words - a Chromosomal Microarray Analysis, Rett Syndrome and Fragile X Syndrome) to see if these might be the reasons you were a little behind and your head a little small. A nurse took your blood and then it was sent to a lab where it was watched carefully and put under a microscope. They found that you are missing a portion of your 4th Chromosome (the part you are missing is 4p15.32). This is called a chromosome abnormality, or some people call it a genetic deletion since you are missing some genetic material. Dr. R is not quite sure what this means yet, or if it even matters! Genetic testing is so new that the research base is still somewhat limited. Last week the Fragile X test came back negative! We were so thankful!! We are still waiting on the results of the Retts test and one additional test (that has to do with metabolic function since Dr. R said 4p15.32 is involved with how your little body metabolizes different things). We are praying that you do not have Retts, but if you do you better believe this will not change one thing about our love for you. You are perfect, no matter what the results show.

A few weeks ago you had a MRI done on your brain. You had to be put to sleep for this too, just like the ABR test, except this time they had to give you an IV in your foot. It took a while to get the needle in your foot but once they got it in and gave you the sleep medicine you did great. The results show that all the major parts of your brain are just as they should be! Dr. R did mention that certain areas of your brain are not as myelinated as most babies your age but it is still within a normal range of abnormal so he is not too concerned right now. He would like to have another MRI done in a few years to make sure it has resolved. Praise God that all the parts of your brain are there! Dr. R mentioned that while your brain is small compared to other babies, it is filling up your head space appropriately so that is a huge blessing!

You started seeing an Occupational therapist (who works in Dr. R's office) once a week (December 2012) and you are making GREAT PROGRESS. Clara, after just one week of OT you started sitting up on your own. The OT, Ms. Brittany, is working on getting your back and neck muscles super strong. She says this will help you meet your milestones. She is also helping you become more aware of your hands. She gives us lots and lots of homework exercises to do each day, and you seem to really enjoy our little play time. Ms. Brittany is blown away by your progress week after week. You bring her so much joy and she loves playing with you. The OT session is one of our favorite times of the week. It is SO fun to watch you blossom. You amaze us. Oh, and last week, you went from laying on your back/tummy to sitting up on your own in your bed!! You have only done it once but we are sure you will do it again soon.

You have another friend who works for ECI (Early Childhood Intervention), Ms. Misty, who comes once a week to play with you at our house. She started coming in January 2013 and is called a Specialized Skills Trainer. The three of us sit on the floor and play together. She also gives us exercises to work on between visits. She is so happy with your progress so far and thinks you are beyond cute!! ECI will work with us until we are ready to stop services, or until you hit three years old. Once you are one year they will send a Physical Therapist and Speech Therapist to our house to work with you.

At this point, we have pretty much finished most of the major testing. Mommy and daddy are going to talk with a team of people at Texas Children's Hospital, called geneticists, who will give us more information about the part of chromosome that you are missing. They might want to take some of mommy and daddy's blood to see if we are also missing 4p15.32. We go in May, just after you turn one year old!!

Clara, we want you to know that our love for you is unconditional. It doesn't matter what any of these tests show or what the Drs. say "might" happen in the future. You were created perfectly, in God's image, and no diagnosis will change that. You are a JOY to us. Everyday I hold you and ask myself "How did I get this lucky?" Yes, we have a lot going on and our days can sometimes be really busy and stressful, but I would not change a thing about our days together. I am so thankful I am able to be at home with you right now. I love watching you grow, blossom, and I am eager to see how God uses you (though small) to do big things. We love you so much. I can't say that enough.

Yesterday at your nine month well check Dr O. stated "It is obvious that Clara has been blessed with the perfect mom and dad to meet all her needs." I replied "No. Actually. This mom and dad have been blessed with the perfect Clara."

Love,
Mommy (and daddy)