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. . .
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. . .