Not sure why, but this whole deal with Riley is just kind of running in circles through my brain tonight. I've looked on dozens of websites for support for what Riley is dealing with, and although I have found some good resources, I'm feeling that I still have questions that haven't been answered. So...here's a list of my top 5 questions that I haven't found answers for! If anyone out there can answer these...then please...show some love!
5. Why can't the doctor's know exactly if Riley has Saether-Chotzen or Pfeiffer Syndrome?
4. What are the REAL two differences between the two? They seem pretty similar to me.
3. Is Riley's hearing loss related to his syndrome or synostosis? I know there can be hearing loss in these syndromes but how do I know for sure if Riley's is directly related to his syndrome?
2. As Riley gets older, will we notice more deformities?
1. How come I can't find any info on the internet about this "spot" on RIley's head that we went to the doctor for tonight? I've searched the internet for 3 days trying to find out what this is caused by...there is nothing.
I think I'll try to go back to bed now!! Thanks for reading!
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I don't have the answers to these questions, my sweet friend. I do know that God IS in control and pray that His peace overflows in your soul. I continue to stand by you, Steve, and precious Riley, asking God to protect and grow Riley into all that he was created to be.
--Shannon
I'm sorry you are having to question all of these things. I know how frustrating it is when you figure out that the doctors don't know everything. I love you!
Hi!
I got your site off CAPPS. My knowledge is pretty limited, but the main difference between Saethre-Chotzen and Pfeiffer syndromes is which gene is mutated. In Saethre-Chotzen, it is the TWIST gene. In Pfeiffer, it is the gene FGFR 1 & FGFR 2 mapped to chromosomes 8 and 10. Also, in Pfeiffer, many of the patients end up needing midface advancement surgeries, whereas I have not heard of that happening with Saethre-Chotzen cases. Again, my knowledge is limited.
My son and I were born with cranio, and many of the family members on my mother's side were born with it. We have been tested for the TWIST mutation, but that test came up negative. The downside to the testing is that it is not always accurate; we could have a TWIST mutation and it just not have shown up.
Hi Lauren:
I do not believe that the hearing loss is from the synostosis. I have never heard that before. I have researched it and haven't come up with anything either.
Gladd you liked tha Capps board. Feel free to ask as many questions there. Those people are full of info! Make sure you sing up for a sponsor with "Max's mom". She's great! Her name is Amy.
I love you, Lauren
Hi, Lauren! My oldest son (now 14) was born with Pfeiffer Syndrome, so I'll try to answer some of your questions...
5. Why can't the doctor's know exactly if Riley has Saether-Chotzen or Pfeiffer Syndrome? They need to do a genetics test - these two syndromes affect different parts of the genetic make up and can sometimes be identified that way. Unfortunately, they're not 100% perfect, so having a very knowledgeable geneticist perform an exam is also a big component of the diagnosis.
4. What are the REAL two differences between the two? They are quite similar in some ways. A couple of things that can be different is that S-C more often features a single upper palmar crease, and the thumbs tend to look more like fingers - flatter, thinner, etc. I don't think the mid-face is usually as much of an issue with S-C as it is with Pfeiffer, either.
3. Is Riley's hearing loss related to his syndrome or synostosis? It probably is. I know a lot of children with Pfeiffer Syndrome and other similar syndromes (Apert, Crouzon) who have hearing loss. Their ear canals tend to be a lot smaller than those of an average person, so fluid tends to build up in them more often. Over time, the fluid can permanently damage the tiny bones of the inner ear. My son has had many sets of tubes, but still has the damage and some hearing loss that will never go away.
2. As Riley gets older, will we notice more deformities? It's possible. Most of them will just be slight changes to things you are already seeing, but there can be new things that pop up. In the past couple of years, Bryson has developed a constriction of the muscles at his elbows and knees, which is likely caused by his syndrome (though it's not on most "symptom" lists). Luckily it's mild and doesn't cause too many problems. He also developed a condition known as Chiari Malformation that was diagnosed and operated on at age 13. Don't panic over it, but keep it in the back of your mind so that if something does pop up, you'll be more likely to see it...
1. How come I can't find any info on the internet about this "spot" on RIley's head that we went to the doctor for tonight?
As you found out, things will change as he grows. Do definitely keep an eye on that spot, though - if it bulges and is firm and doesn't seem to subside, especially if he seems cranky or in pain, don't be afraid to take him back in. Increased pressure inside the brain is common with our kids and can require a shunt to be placed to drain the excess fluid. If it needs to be done and isn't done, it can lead to brain damage, so it's always better to be safe than sorry! A CT scan is the best way to diagnose how much pressure he has. Also, this can come and go in the beginning and become a real problem a week or month down the road. Just keep a close eye on it.
If you'd like to read Bryson's story, just click the link for my web page. There are also links there, and contact information for myself if you'd like to talk...
Remember - this can be hard, but you guys WILL get through it, and things WILL get better!
{{{hugs}}}
Melissa
BTW - the increased pressure is called Hydrocephalus, in case you'd like to do research on it. It's a condition where the cerebrospinal fluid (CSF) doesn't drain like it should - the shunt provides a way for it to do just that...
:) Melissa
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