Stella & Dot Fundraiser to benefit the Cohen Syndrome Association

Nearly two years ago, on November 21, 2013, after a year and a half of continual concerns, Dr.'s appointments, testing, and initial therapies, we received Clara's diagnosis of Cohen Syndrome. We sat in the geneticists office that November day with eyes popped wide and minds on the brink of explosion. 

So much information. 

So many questions.

So many "What if's?"

So many "She many never _____. . . "

Pictures from the day of her diagnosis, November 21, 2013
(I was almost 8 months pregnant with Camille!)

That hour and a half at the children's hospital felt like a lifetime. Guilt filled our hearts as we learned that our daughter's struggles were a direct result of mom and dad passing on faulty genes. Emotions swayed from "Goodness, this is just too much," to "Okay, we can do this . . . we've got this!" 

And all of the emotions felt on that day, two years ago, still creep back inside from time to time. Special needs parenting is filled with lots of hard and lots of good. But that is just the nature of parenting . . . lots of hard and lots of good, regardless of diagnostic label.  

Cohen Syndrome is a rare genetic disorder caused by mutations in the VPS13B gene (frequently called the COH1 gene). We are so thankful to have an answer for all of Clara's struggles. 

Anyone that knows her knows that while her struggles are many, her joy is even greater! She is one amazing kid. We are so thankful for Clara and the love and life she brings to everyone who crosses her path. We believe God is going to use her, rare genetic condition and all, to change the world in her own little way. And that really isn't little at all, is it?

Clara 2014, with her little sister

Some of you might remember that last November we partnered with Chickfila to raise funds for the Cohen Syndrome Association (CSA), in honor of Clara (and her adorable friend, Katherine, also diagnosed with Cohen Syndrome).  We are thrilled to host another fundraiser this year, just in time for the two year anniversary of Clara's diagnosis. 

On Sunday November 22nd at 8:30pm we will be hosting a live fundraiser on Facebook. Our friend and Stella & Dot representitive, Gillian Mathews, has so generously agreed to give 50% of all sales to the CSA. Fifty percent!! This is a great opportunity to do a little holiday shopping while also giving to a great cause. 

If you are on Facebook and would like an invite to the live event, please let me know! For those of you who might not be able to participate in the live event, the link is up and ready now for shoppers (See below)! Feel free to browse around and shop at your convenience. 

http://www.stelladot.com/ts/n3ga6

Our goal in this annual fundraiser is to raise awareness, continue the conversation of special needs, and raise funds for the CSA. The CSA was founded by parents to raise awareness of this disease with the goal of educating parents and professionals to assure earlier diagnosis and medical interventions. We really cannot stress what a game changer it is when families receive an early diagnosis. 

For more specific information on Cohen Syndrome please visit http://ghr.nlm.nih.gov/condition/cohen-syndrome.

For more information on the CSA please visit http://cohen-syndrome.org/. 

Clara and mommy, 2015

Thank you so much for your generosity and support for not only our family, but the greater special needs community! We appreciate your love and prayers so very much.

Happy shopping!

Clara Anne. . . Never give up

A friend forwarded me this U Tube video on Monday. I watched and cried my eyes out. Twice. And then later a third time. And I am tearing up just typing these words now.

source

Clara Anne, 

You bring us so much joy.

So much happiness.

You are so fully & unconditionally loved by us, and so many others.

You are our little fighter. Our own little super girl.

And just like Eden, may we encourage you to always keep pressing on. 

Keep moving forward.

Hold your head high and continue to smile with that exuberant joy that comes so naturally. 

Never give up, baby girl.

Never give up.

Xoxo,

Mommy and Daddy 

Rare Disease Day 2014

Switching gears from NEDAwareness Week. . .
_________________________________________

Today, February 28th, is Rare Disease Day!

What is a rare disease?

A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.

80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.

50% of rare diseases touch children.

source 

Cohen Syndrome has only 1,000 documented cases. Globally, we only have data on 160 cases. Clara is one of 1,000. Rare, indeed.

I will never forget the day we learned of Clara's Cohens and the geneticist looked me in the face and said verbatim "You really don't understand how rare this diagnosis is."

source 

Let's raise and join hands together in support of not only Clara, but for many others living with a rare disease.

Thank you for taking the time to love these kids, these people, these families, and those who work so very hard, everyday, to create the best scenarios and outcomes possible for those diagnosed.

Thank you for your support. 

It truly means more than you know. 

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. . .