A Surprising New Journey

We are adding to our family! 

Although I'm not sure how much of a surprise this is. 

Most of you who read this already know and I've already updated the page with a ticker and it's on the little calender thing. 

It's been kind of a roller coaster ride, because nothing is simple in this house! 

We are due January 14th. So, yes that means I'm almost 31 weeks and I've about 65ish days left!

Here's a hopefully short synopsis of what's been going:

We found out near the end of May that we were expecting again.

We had our first ultrasound at 13 weeks. I honestly can't remember why they did it, maybe to get a better idea of the exact due date or to help monitor future growth. Things looked really good at this point, lots of movement. 

Since Luke and I are both carriers for I-cell and we went about getting pregnant "in the usual way" at 15 weeks we had to see a prenatal geneticist for a consult. There is a 25% that any of our children will have I-cell but this also means there is a 75% that they would be healthy.

At 15 weeks we opted to have an amniocentesis done. We also had another ultrasound at this point to check growth and to look for any possible abnormalities. We got a big surprise that day and found out that we are having a BOY! I had wanted the gender to be a surprise this time around but he had other ideas and made it very obvious to us! Things looked really good at this ultrasound too, he had a lot of strong movement so much that the tech could feel it too! The amnio itself was pretty painful and much to Amber's dismay made me take it easy for a couple of days.

20 weeks is when things really changed for us. Up until this point we had a really good, positive feeling about this pregnancy;over all everything was going well, he looked good on all the ultrasounds and I was feeling a lot of strong movement. Then we got the call that we were not expecting. He also has I-cell. We were devastated, it was just so unexpected. Things were so different when I was pregnant with Amber it was very hard and had so many complications. I always felt like maybe there was something wrong with her and I ended up being right. This time around has been so easy and uncomplicated that the diagnosis was really a shock to us.
 I think I prefer knowing now before he's born than finding out afterwards like we did with Amber. Although I can't really say it's been any easier getting this diagnosis a second time. Especially since we technically knowingly gave this child I-cell, it tends to make one feel like a bad person/parent. 

At 20 weeks we finally told the rest of our family and all friends that we were expecting, we wanted to wait until after we had the amnio results. At this point we also switched to a high risk ob office in Boston. We also had another ultrasound that showed everything looked good  and he was on track growth wise.

 We had another appointment and ultrasound at 24 weeks. I also had my glucose test, no gestational diabetes for this chick! He was still on track growth wise and looking good.

Per the request of Amber's cardiologist, who will also be this little man's cardiologist, we had a fetal echo done. This was at 26 weeks, I don't have any pictures from it but I'm happy to say at this point his heart looks totally perfect. It's in the right spot, all the valves and everything else looks good. This doesn't mean he's totally in the clear for no heart problems unfortunately. If you remember Amber's heart status/severity changed rapidly in the first year. 

This is the baby's face....

At 28 weeks things changed for us again. Our ultrasound showed that he is now behind in growth. It really wasn't that much of a surprise to us. We knew it was a matter of time and we went through the same thing with Amber. However with Amber we caught it later in the pregnancy and she actually came (unexpectedly) 2 days after we found out so never had the chance to monitor it. The little man had quite a big drop in size in the 4 weeks between appointments. At our 24 week appointment he was in the 31st percentile and at 28 weeks he had dropped to the 7th. Our Ob is/was very concerned, especially since he doesn't move a ton (also something we went through with Amber) and at this appointment told me that she didn't expect him to make it to the end of the pregnancy and they would consider delivery if he were a "normal" baby. Of course I am concerned about his drop in size and I would like to monitor it but I am not concerned that he might not make it. Unfortunately when there is a lack of information on a disease you tend to run into these types of situations, like Amber's last E.R. visit. It's your classic case of if the OB listened to me/Amber's geneticist or read the chart they might not have said those things.

We had another appointment yesterday at 30 weeks which confirmed (much to our Ob's surprise) that our little man was indeed alive! This means, starting tomorrow, I'll be going in weekly or so for ultrasounds to check on his growth. As long as he doesn't have anymore significant drops and stays on his own growth curve we can continue on like normal. 

 We have learned to much from Amber and she brings so much joy to our lives that we can't wait to see what our little man has in store for us. It's going to be in interesting new journey for us!

Starting Spring Right!

We're doing things right and starting off this spring in good health. Yes, Amber is finally 100% back to her normal self! 

Yesterday's Genetics follow up went really well. Amber was in good spirits and other than her gum over growth nothing else has changed! Yay!! She had her usual blood work done to check the levels of her iron, potassium, white blood cells, electrolytes and some other things. Her last couple of results have been pretty out of whack and we think that might have been some of the reason why she had been so sick. Thankfully the results of yesterday came back showing almost everything has started to come back to normal levels! Amber weighed less this visit (but she's been sick) and she's grown half an inch! Which we're really excited about because she should be able to get her walker now!

The other awesome thing about yesterday was being able to meet with another I-Cell mom!!

She has twin boys with I-Cell and we met through a Facebook support group. She doesn't live in our area but was doing some work up here and we couldn't pass up the chance to meet her! It was so nice to be able to chat with another mom who's going through the same things as us. Someday I'd love to have Amber and boys meet, I think they would have so much fun together! She has a blog too HERE, the boys are sooo cute!!

We had a GORGEOUS day here today!! Nice warm weather, in the 60's. Amber was able to enjoy some fresh air. She loves to be outside and thought it was really funny that her cat Boo could come out too! 

Amber also got to touch snow for the first time today! I know, it's weird to think about, it was warm but we still have snow in most places. We're looking forward to more warm weather these next days!!

Amber wanted to wish you all a Happy St. Patrick's Day! 

(this was supposed to be posted sooner)

Catch 22

Last Tuesday the 26th was the big meeting with some of Amber's specialists. The metabolic geneticists, his nurse practitioner, pulmonary specialist, orthopedic surgeon, cardiologist, palliative care team and the complex coordinated care team were all there.  

Friday we had a meeting to discus the meeting. It was us, the metabolic geneticist, his nurse practitioner and the palliative care team. We didn't discuss anything new and if anything it's only made our decision making harder.  

There's a lot to it so I'll keep you all focused by throwing some pictures in.

Here's a great one I forgot to put in yesterday! She's a low fat cow :)

First of all I'll start with the chest expansion surgery. She can not have it. Which is fine with us because we had already decided against it. It would be too much of a shock to her system and it would be too long/painful of a recovery. 

Second is the heart. This is a tough one. She definitely needs heart surgery. However it would be open heart surgery and they are very concerned that her lungs would not be able to handle the procedure. On top of it I-Cell babies have a lot of issues with intubation and while she did really well last time there is no guarantee that she'll do well again since she has shown some progression in the disease. The risk of death is very high but we know her quality of life will go down greatly without it and her life span will be even shorter. We're still very undecided about it, not great seeing how we need to do it sooner than later. 

I believe that's it for surgeries. 

This photo melts my heart, he's such a great daddy!!

Treatment. 

This is a tough one. I think I've mentioned before that there is no cure for I-Cell and really no treatment either. The Dr's are still counseling us towards a stem cell transplant (either a donor cord blood or bone marrow), but there really isn't much information on it. They've seen the progression of the disease really slow down, especially with the heart. The down side is the areas that are already affected in her will not change, the progression may slow down but they will always be the way they are and will continue to be issues for her.  What this means for Amber is if she gets it she would probably grow a little more this would be great because it would put some space between her lungs and stomach and she would also fit equipment better. The major down side is the transplant wouldn't change whats already bad with her  lungs and heart and they would not be able to handle a bigger body. However if we don't do the heart surgery her body would not be able to handle the intensity of the transplant, even without it it might be too much for her. 

For other treatment; if we don't do the heart surgery it would be more medication as she gets worse. The palliative care teams seems very confidant in what they can do for her because they've worked with another family who has two I-cell kids. 

She's so curious about everything these days!

So, if you're a little lost by now don't worry! I'm not sure how helpful the meeting was. I don't know what I was expecting since I know by now that they'll never give us a straight answer on what we should do for her. We're kind of stuck in a loop now and here's how it goes;

Her heart needs fixing but her lungs can't handle it,

Her lungs need fixing but her heart can't handle it,

The transplant might work but everything needs fixing before for it to work best 

and that starts us back to the beginning!

They have offered to send us to a hospital in Minnesota and PA who have seen more I-Cell patients and have done treatment/surgeries with them to get a second opinion on what would work best with Amber. We aren't sure if we'll do it. It's also a hard decision because it's a lot of traveling during flu/cold season which is not really the greatest time of the year to travel but if we want someone else's opinion especially on  the heart surgery we have to do it pretty much now. 

I was really hoping that after this meeting we would be set in a direction that we want to go in terms of surgical interventions or not but I think we're actually more confused! 

In other new news her geneticist cleaned out her ears and discovered that it was an ear infection that was causing her sickness and not a reaction to the MMR vaccine! So she's on antibiotics and seems to recovering; her fever is gone but she's still acting off. The other crappy news is her liver is even bigger, it's doubled in size in a little under a month. We aren't sure if this is just the progression of I-Cell or if it's a build up of blood because her heart is working so hard....I'm not sure which would suck more. The only good news is she's not showing signs of any serious liver issues, her skin and eyes are still a good color. 

I think that's all...  This was supposed to get out for today (Tuesday) but I think it will be out for Thursday, I'm not very good at multitasking these days! 

The Elephant In The Room (aka the diagnosis)

It's been a week since we found out. We got a call last Sunday (the day after her birthday) from the metabolic geneticist. He tried to make some small talk about her birthday but we knew it wasn't a good call. We headed in the next morning for the news.
Amber's last set of blood tests came back positive for one of the Lysosomal Storage Diseases called Mucolipidosis II or I-Cell Disease. They really tried to give us the best case scenario for her but unfortunately this is a progressively destructive disease. Right now Amber is probably the best she will ever be. Everything that  she's been struggling with from the beginning will not go away but actually continue to get worse over time. There is no cure and we can only treat problems as they arise to make her comfortable. The worst part is they told us not to expect her to live to age 8. Right now they are retesting it and doing more tests to see how sever she has it.
This is a rare disease but there are some experimental treatments we could try with her. The major one is bone marrow stem cell transplantation. It's extremely intense and really doesn't do much, it might slow down the progression but in the end everything will be the same. The transplantation will also not stop the progression to her brain. All the possible treatments we could try are intense with a lot of negative side affects. It's a hard decision to make if we want to put her through any of this with no promise that it will do anything. At the same time not doing anything makes me feel like I'm being a bad parent to her. We haven't closed the door to anything but it's definitely something we need to pray, talk about and get more counseling from Dr.s.

How does this affect whats going on with Amber now? Well, it seriously complicates things even more, to put it simply! We have been setting up Amber's chest expansion and heart surgery for sometime this fall. Now we're not sure if this is going to happen or not. Amber's disease is a progressive thing so her chest and heart would not heal right. They would continue to cause her issues and would continue to need more surgery to keep on correcting them. The other major issue with the new diagnosis and surgery is with intubation and anesthesia basically it's not supposed to be done and can cause a lot of serious issues. We aren't even sure at this point if they would still let her have these surgeries. It's a really hard thing to deal with when the last news we heard from the Dr's who want these surgeries done was that if she didn't get them they would be what gets her or at least whats going to really hold her back. The heart one at this point I'm not too worried about because she still isn't showing day to day signs that it's causing her any problems. The chest expansion one is what I'm really struggling with. Even with the inhaler and more oxygen at night Amber is still desating a lot more every night and each night it's a lower number. I have a feeling that this is going to be a no win situation.
This also means we get to see some more new specialists! On Friday we see a neurologist to discuss Amber's skull, upcoming brain MRI and probably the neurological affects of I-Cell. Then we have a magical week off but I'm hoping Amber's glasses come in and to get an appointment with the pulmonary specialist. After that we see the new cardiologist to discuss the heart MRI and if we can do surgery. The next day we'll see the ophthalmologist again to see if her cornea clouding has progressed in the month and a half and how her glasses are working (if they're in by then!). Finally at the end of October we'll have her two for one MRI and see people all over again to talk about the results. November is orthopedics and endocrinology to see if they can help us at all, I'm very skeptical of the two of them. At some point we'll meet with a neurosurgeon to check out the integrity of Amber's spine, especially her neck bones and talk to them about possible things we hope to never actually have to go through. The end of November we'll see the metabolic geneticist again to see how things are progressing and if there is anything we can do.

This has all been really shocking and rough for us. Like usual we're taking it one day at a time but it's still not easy to talk about or tell people about.

A Rather Poopy Day ~ The Epic Update You've All Been Waiting For

Well I really thought the other way of updating was going to work. We've had so many appointments the information is starting to snowball so I'm going to give it to you all at once. 

A little more on feeding, this picture really fits it! Amber is not tolerating any of her feedings. Meaning she is throwing up a lot on oral and tube feedings. This week she lost a pound so in a way she's lost two because she had been gaining a pound a week. (she loves "driving" the tractor!)

Last week we had an eye appointment. It was supposed to be a quick follow up to the one she had in February. At the last appointment they said she was really farsighted, but most babies are. We all thought since she did so much growing everything would be all set at and normal at the follow up. Not the case, she's now extremely farsighted and will be getting glasses. Very cute clear/purple ones! They also noticed that the whites of her eyes are now cloudy. I can't quite remember what it's called Cornea something with a d, she has diffusion in the middle layer of her cornea called the stroma, don't worry I don't even know what it means except that is what's causing the clouding. Depending on how bad it progresses we're looking at loss of sight over time and extreme sensitivity to the slightest bit of light. This new finding fits with exactly with the new information below.

Another geneticist! Yup Cedar-Sinai told us they don't think it's Jeune syndrome anymore but most likely a metabolic disorder and some other type of genetic disorder or syndrome. So now we're seeing a metabolic geneticist on top of our other geneticists. We meet with them yesterday and absolutely love them! They are pretty positive Amber has a metabolic disorder. What they're looking into has a very broad spectrum of severity but no matter what level of it she has it is progressively destructive. In our cells we have things called lysosomes that act like the liver for our cells breaking things down and using them ect. In Amber her lysosomes don't work right so things get stored all over her body and cause build up of tissues or bone deformities. This explains some of her unusual anatomy but not all of it so thats why they're thinking its more than just a metabolic issue. Needless to say Amber had a lot of blood work done yesterday. As much as I would like to have some sort of diagnosis for her this really wasn't the type we were expecting. If it is this it will mean that things will always be hard for Amber and unfortunately things will only get worse not better. What we are hoping is that the test will come back negative or at least say that she has a treatable type. I really don't like wiki but here is a good description of pretty much everything I'm trying to tell you. This one is more the family they're looking into. 

Since I'm on a roll I'll give you more not wonderful news. Amber finally had another echo done and it showed that her mitral leak is still sever and the left side of her heart is still enlarged. This means that she will be getting a heart MRI sometime soon. Depending on what the MRI shows, in terms of how much is actually leaking, Amber will have her mitral valve repaired or worst case scenario replaced. By the way we are also finally switching to a cardiologist in Boston.
I'm not sure if you all remember this post about our visit with the new orthopedic surgeon. Well after our last appointment with pulmonary they've decided to push having her chest repaired sooner than later. She will be having a pulmonary infant function test soon to determine how well she actually breaths and then they will set up a surgery date from there.
It looks like both the chest and heart surgery will be done this fall probably at the same time. It's not great to think about but since Amber did so well with her last set of surgeries they have high hopes that she will do well with these.
Amber will also be getting a brain MRI at the same time as her heart one to check out some weird lumps and bumps on her head. She will probably also end up getting a cat scan on her head as well but we're not sure if that will happen before or after her neurology appointment. At this point due to the lumps and bumps everyone is worried that sutures in her skull are starting to fuse, the fact that other parts of her are ossifying doesn't make anyone feel any better about it. The scary part is if her head is fusing that will stunt the growth of her brain, apparently this is not very uncommon with the disorder.

Lately it seems like every appointment we go to we get worse and worse news. It all really sucks but we're continuing to pray for the peace that God had given us since the first news that something might be wrong with Amber. We take one day at a time.

I hope you enjoyed the pictures! They're teasers to some much more positive posts I'll be getting out soon!