The Van

The New Van

I promised a picture of the new van so here it is.  Not much to do with our health, but it makes us all a little happier and that means something.  At least now we will cruise to Dr. appointments in style.  Well, as in style as one can be in a minivan.  No Dr. appointments until next Friday.  Yay!

Kate's Contacts

I took Kate back to Shiley Eye Center at UCSD and she had all the usual tests that she loves to much.  Tell me what you see,  which is most clear 1 or 2, etc.  This was a contact fitting and our insurance doesn't cover it.  Fun.  Here's the deal.  Her contacts will be there in about 2 weeks.  They are specially made because her vision is so stupendous.  They are supposed to last a year.  They cost $150 each,  that's $300 a year,  which isn't too bad unless she starts losing them left and right.  Still not sure if our vision plan will cover any of the contact cost.  So, we will go in and the Dr.  will put the contacts in and make sure she can see and that they fit correctly.  If they don't,  we place a new order and wait another two weeks for new contacts.  If they do,  they teach Kate how to use contacts.  I wore contacts for years so I am hoping that I will be helpful.  They tell me that 8 year olds can totally get it,  so here's hoping.

Kate was really bummed that we walked out of there sans contacts.  Kids meal at McDonald's helped cure that,  not a treat she gets much...  if you can call it a treat.  I will admit that after most Dr. appointments these days I often feel the need for a pick-me-up.  And wouldn't you know it,  there's a McDonald's right there in Rady Children's Hospital.  I end up getting whoever I have with me that day an ice cream cone.  And I always get myself one, along with a Diet Coke.  I guess that's why I'm gaining weight. 

Noah and Abby

Noah and Abby had their cardiac echo today.  It's funny,  because when I took Kate to have hers I was so certain that nothing would be wrong I sat through it a little anxious,  but ok.  Today,  when it's almost certain that nothing will be wrong,  I cried the first 10 minutes of Noah's.  I keep looking at the dumb screen and seeing things that are wrong when I know I have no stinking idea.  I finally switched seats and watched 'Bugs Life' with Noah facing away from the screen. I was even thinking I need to go back to school and use my RN to get me into an accelerated ultrasound course.  HA!  I have time for that.  But it sounded good at the moment.   By the time Abby got in there I was much better.  Ugh.  One more appointment done. 

Kate's Eye Surgery

Well,  I  just got off the phone with the eye Dr.  at Shiley Eye Center at UCSD.  After conferring with another Dr.  that saw Kate,  they think it's best we postpone surgery for now.  They would like to have her fitted for contacts as they are supposed to give her better vision.  After we see how she does in contacts,  which I'm thinking may be difficult for an 8 year old,  we will revisit the surgery.  The eye surgery will happen at some point.  I think their thinking is that as long as she can see well enough we can postpone it until she gets a little older.  So,  we go back to Shiley on October 26th to see someone who will fit her for contacts.  Hopefully she will be able to use contacts.  She has asked to get them in the past so I know she is motivated.  Wish us luck.  I know Jed thinks we should just do it now.  Jed was the one who caught the dislocated lenses in the first place.  I am eternally grateful that he did.  I can't imagine something happening to Kate because we never caught it.  And I am really ticked at her regular optometrist here in SD who never dilated her eyes and caught it himself over the last few years!  Anyway,  I can see both sides of the argument for waiting and doing the surgery now.  It's difficult getting different opinions.  I can just hope and pray that erring on the side caution and trusting the Dr.'s at Shiley serves us well.  Where's that crystal ball when you need it?

Ethan's Cardiac Echo

Just found out that Ethan's cardiac echo has come back normal.  The first Dr saw a slight enlargement of the aorta,  but I guess with the more thorough test they were able to see that it is within normal limits.  Good news for once.  Now we wait for the blood test and Noah and Abby's cardiac echos. 

Noah, Abby, Ear and Van

Noah and Abby have their cardiac echo's this Friday.  Abby hates that she's missing school.  Who's kid is she?  I doubt they will say anything,  but we can hope.  I guess Nov 4th is sneaking up on us anyway.  I am going to see the ear Dr.  on November 17th,  same day Kate is seeing her orthopedic Dr.  If there isn't a Dr.  visit scheduled during the week it actually feels like something is missing.

Other news,  picked out a new van.  I will post a pic when we get it.  It's been  almost 11 years in my black van.  I noticed today that the front passenger headlight is actually falling out....it's my van confirming the choice to ditch it.  I hope.

Ethan and Marci Cardiac Echo

We both had our cardiac echo's done yesterday.  Usually the techs doing it won't say anything,  but we both got a "things look good to me" from them.  We'll find out for sure Nov. 4th or earlier if our primary drs decide to call us with the results.  Taking off for the Zoo and van shopping today.  I know, it's about time on the van.  It used to be a kind of badge of honor,  driving til it drops, etc.  But lately it's just embarrassing,  and squeaky,  and about to die,  I can feel it.  More than usual,  I should add.

The Silver Lining?

If there is any good news out of this,  it's that we caught it fairly early.  We have since heard of and read about cases where people didn't know they had Marfans and ended up dying early with an aortic aneurysm.  With medical care and medication, Kate should live a normal life span.  We were also told by the cardiologist,  that when Kate has children,  she will be able to have invitro fertilization and they can actually take out the eggs with the Marfan gene in it.  The genetics Dr.  didn't seem to think it would be that big of an issue since you can live with medical care and medicine.  Kate will have to make that decision someday. 

How Kate is Doing

Kate has such a great attitude.  I had to tell the elementary school that Kate can't sprint or exercise heavily.  She can't do anything that gets her heart racing.  She can also never lift anything heavy.  No Book Decor work for her.  And because of her eyes,  she can never play sports.  Especially sports where she might get hit.  And swim team is out,  too hard on the heart.  She was sad about that one.  At school the other day she had to sit out while the kids did some sprinting, racing each other.  I think that was strange for her but she told me about it while keeping her happy attitude.  She knows she has something going on.  She asked me last night how her eyes and heart are related to whatever is wrong with her.  Trying to explain genes and connective tissue to an 8 year old was not easy.  She claimed she understood, sorta.  I guess that's all we can ask for right now.
For the most part,  I don't think anyone would see a difference.  We can tell that she is worried about it though.  She asks questions out of the blue,  like when she has surgery on her eyes,  they will have to hold on to her because she wiggles when she's asleep.   She is also very attached to Ethan and myself.  Doesn't want me to leave for book club or even run to the store.  She doesn't cry or anything she just hugs me and asks me to cancel whatever I am supposed to be doing and stay with her.  It's hard.  It stinks.  We are thinking about looking into a Marfan support group.  Our concern right now is that some kids with Marfans look kind of different and we don't want Kate to be afraid that she will look like some of these other kids.  Marfans is hard because there is such a range. You can have kids like Kate, who don't show a lot of the outward signs,  and kids clear at the other end of the spectrum.  We are thinking of showing up to a meeting without Kate and see what we think she might get out of it.

The rest of us

Other family members.  Ethan had a smaller version of an cardiac echo because the cardiologist was nervous that Ethan may have the same thing so he checked him out early.  Turns out that Ethan does have a slightly larger aorta.  The geneticist thinks that the size is minimal and may not mean anything, while the cardiologist may want to start Ethan on the same meds that Kate will go on.  He has an actual cardiac echo coming up this Friday, the 14th.  Fun birthday present, right.  I have my cardiac echo Friday morning.  Noah and Abby have their cardiac echo's on the 21st.  We find out the results on Nov. 4th.

Just FYI, I am due to go back and get my hearing checked sometime in November.  I guess I need to schedule that.  Ugh.  Just what we need, more dr. appointments.  

Kate

First,  Kate's favorite color is pink,  hence this blog color.  I have started this blog at the request of others who would like to be kept up to date about our family's health.  So, here goes.  Kate most likely has Marfan Syndrome.  You can read about it here : Marfan Syndrome.

As you can see,  it affects many parts of your body.  So far,  it is affecting Kate's eyes and heart.  The eyes.  She has dislocated lenses in both eyes.  They lenses are currently down and to the left, I believe.  She has gone through many pairs of glasses in the last year which prompted me to take her to see my cousin, Jed Poll,  in Utah.  He dilated her eyes and found the problem right away.  I have since learned that her regular optometrist had never before dilated her eyes.  Make sure your eye drs. are doing that for your children.  We found this out at the end of June.  I then made appointments for her to see a cardiologist and a geneticist.  She will need surgery on both eyes sometime in the near future.  We are waiting to hear from her eye surgeon on timing right now.

Heart.  Awful day at the cardiologist.  She had a cardiac echo, EKG, and chest x-ray prior to seeing the Dr.  Her aorta is enlarged.  Everything else looks normal at this point.  She is not so enlarged that we are looking at surgery anytime soon,  but she will be monitored for the rest of her life with a yearly cardiac echo.  She will also be starting on a medication that is in it's trial phase that will hopefully slow down the progression of her aorta enlarging any more. She will have another cardiac echo in a few months just to check to see how fast the progression is.   Fingers crossed.

Her cardiologist is Dr. Grossfield who works with other families who have Marfan Syndrome.  He is at the children's hospital here in San Diego.  We liked him and have confidence in his care.  

X-ray.  The chest x-ray showed some small scoliosis of the spine.  She will go and see a pediatric orthopedist later this month.  I will update what he says later.

Geneticist.  Marfan Syndrome is usually inherited from someone.  We talked to a geneticist on Tuesday the 11th.  She said that Kate did not fit the skeletal profile for Marfans,  which is good.  She is really tall, 96th percentile,  but her arms are not that much longer than her length,  within cm's.  That is good.  She couldn't see any outward sign of scoliosis, also good.  She is ordering a blood test to check for the Marfan gene.  If she comes up positive,  they find the gene,  then Ethan will be checked for it.  If Ethan comes up positive,  Abby and Noah will be checked as well.  If Ethan comes up negative,  I will likely be checked.  Although,  given my lack of height,  she doesn't think it's from me.  She is actually leaning that Ethan doesn't have it either,  but that Kate is one of those genetic anomalies that just occurred.  We will know when we get the blood test back.  The kicker is that the test is very expensive, $1500-$2000,  so we have to wait a few weeks to get insurance approval.  Once she has her blood drawn,  it will take 8 weeks to get the results.  The waiting begins.