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What we know

This is going to be a big huge long post, hopefully getting everyone up to date with what's going on with Eddie. It's a lot of information, and it's a bit overdue. I hope it answers all of your questions, but if it doesn't, just ask!

My goal is to make the blog the primary method of communication with everyone. I know that within the last week or so there have been a lot of emails going back and forth between a lot of different people, and I'm hoping to make this the primary source of the most current information. Let's see how that works. :)

Intro to genetics
When I first got the news about Eddie, I remembered that I'd forgotten everything I'd learned about genetics, so I did (and continue to do) a bit of reading. If you already know all this stuff, or if you just don't care, feel free to skip this section. But if you're unfamiliar with genetics and chromosomes and all that good stuff, I would recommend you read it as it helps everything else make sense.

We're made up of cells. Each cell has a nucleus, which contains our DNA in chromosomes. Chromosomes are single strands of DNA, all bunched together. Most humans have 23 pairs of chromosomes. Chromosomes consist of individual genes which serve as instructions on how to build everything in the body. When something is out of whack with the genes, something(s) may develop incorrectly.

(For those of you who know more about this than I do, please feel free to correct or clarify any of the above!)

So what's up with Eddie?
Eddie is missing part of the short end (called "p" for petite) of one of his copies of chromosome 5. When this happens, it is called 5p- Syndrome or Cri du Chat Syndrome. While deletions are often the most severe kind of genetic disorder, Eddie is only missing one section (sub-band) of the chromosome (5p15.33). In 5p-, it is believed that the larger the deletion, the more severe the symptoms. While not every gene has been mapped to specific symptoms, some of the classic symptoms have been mapped to specific sub-bands.

How does this happen?
About 80% of the time, 5p- Syndrome is caused by a random deletion of part of the chromosome, 10-13% of the time it is because of an error on one of the parent's chromosome 5, and the remaining 7-10% are due to rare genetic abnormalities. Mark and I are going to go through genetic counseling to determine if Eddie's condition was inherited and, if so, what the likelihood of it happening in future pregnancies would be.

How common is 5p- Syndrome?
Only 1 in 50,000 live births has 5p- Syndrome. This is about 50 - 60 births in the US each year.

About 5p- Syndrome
Because people with 5p- Syndrome have different sections of the short arm of the chromosome missing, their symptoms and the severity of those systems have a wide amount of variance. Most classic cases are diagnosed at or before birth, but as genetic testing has become more accessible, people with less severe cases are being diagnosed later in life (for instance, at the ripe old age of 16 months.)

There are a handful of major symptoms of 5p- Syndrome that make it clear from birth what may be going on: a cat-like cry, small head, and distinctive facial features. These symptoms have been linked to sub-bands 5p15.2 and 5p15.3, both of which Eddie has. This explains why there were no clear signs that pointed to this condition. The good news is that mental retardation is also tied to sub-band 5P15.2.

However, when we look at a symptom list for 5p- Syndrome, we see that Eddie does have a surprising number of them:

• Low birth weight and slow growth
• Feeding problems; often not interested in eating
• Failure to thrive
• Swallowing and sucking problems
• Gastric reflux
• Low muscle tone (hypotonia) - Hypotonia is common in infancy, while hypertonia (high muscle tone, or stiffness) is common later
• Chronic constipation
• Slow or incomplete development of motor skills
• Single line in the palm of the hand - Though only on his left hand (and something I never noticed until doing this research!)
• Folds of skin over the upper eyelid - Just a very slight one, on only his left eye
• Skin tags just in front of the ear
• Hernias
• Frequent ear infections
• Frequent upper respiratory infections
• Sensory (sound, tactile and/or oral) defensiveness - Eddie experiences all three
  

There are also few that we don't know about yet, but that would not come as a surprise and should be found out in future appointments:

• Bowel abnormalities
• Gastrointestinal abnormalities
• Minor hearing impairments

Where we are and how we got here
Concerns about hypotonia were first raised at about 8 months, and Eddie has been doing physical therapy since then. Failure to thrive was first mentioned at about 9 months. At 13 months, Eddie was referred to a neurologist because he was still behind in gross motor skills due to the hypotonia. The neurologist ordered a battery of tests to look for causes of the hypotonia and failure to thrive, including the micro array that found the deletion in chromosome 5. After receiving this diagnosis, Eddie was referred to a geneticist to tell us more.

What the genecist said
The geneticist said that the deletion is the likely cause of all of Eddie's symptoms. However, she made it clear that Eddie does not have what is considered classic Cri du Chat. She expects that he will not have any mental retardation and even said that she felt like he is intelligent. Because of where gene therapy is, she isn't able to give us too much detail about what we may or may not experience with Eddie, she did mention that within sub-band 5p15.33 is a gene called TERT, which is believed to be related to aging. This may mean that Eddie will age earlier than expected.

What's next
Before we got the diagnosis of 5p- Syndrome, Eddie's pediatrician had referred him to a GI doctor. Everyone (the neurologist, the genecist, and the physical therapist) all agree that Eddie still needs to go to this appointment. It is on Thursday morning, and we're hoping to figure out a way to get Eddie to eat more.

The genecist also recommended that Eddie be evaluated by a developmental pediatrician. This doctor would be able to determine where Eddie is with his gross motor skills, fine motor skills, verbal skills and more, and would then recommend what therapies may help Eddie at this point. There are only two developmental pediatricians in Atlanta, and it's a series of hoops just to get an appointment. I will be trying to get a referral from Eddie's regular pediatrician faxed over this week.

Finally, the genecist also suggested that Eddie see an endocrinologist to see if he has any problems with growth hormone. However, I'm feeling like this isn't as likely and would prefer to wait and see if the GI doctor is able to help first. However, I will be talking with Eddie's regular pediatrician about this, as well as about getting Eddie's hearing tested.

Who is treating Eddie (the cast of characters)
As I mentioned in my last post, I'm going to start using names for all of the different healthcare providers we're seeing. So, here's the master list (to date):

• Dr. Greg is Eddie's pediatrician, who referred Eddie to physical therapy and the neurologist (we also see other doctors in the practice for the regular illnesses, but Dr. Greg is who we see for all the big stuff)
• Miss Carol is Eddie's physical therapist, who he's been seeing since last September; he currently sees her every two weeks
• Dr. Goldstein is the neurologist who ordered all of the tests; he currently sees him every three months
• Dr. V is the geneticist that Dr. Goldstein referred us to; we'll see her again for genetic counciling after our lab work comes in, then Eddie will see her every year or so
• Dr. Patel is the GI doctor that Dr. Greg is sending us to; our first appointment will be on Thursday

So, I think that's it. It's a lot, but if you get made it to the end and have any questions (or corrections!), let me know!

I want to thank everyone for being so wonderful and supportive and helpful through all of this. We're so thankful to have such great family and friends to be here for all of us.