Our Journey into the Unknown

Tomorrow is World Rare Disease Day. It's a rather important day to us. Why? Because Princess was born with a rare disease.

Her rare disease is Pseudohypoaldosteronism Type 2 (PHA2). In short, it's a genetic disease that affects the way her kidneys process potassium. Potassium is essential for the function of the heart, kidneys, muscles, nerves and digestive system. You primarily get potassium in food. If you have too much potassium, it could cause an arrhythmia and could be fatal. Your kidneys work to balance the potassium level among other things.

So how did we go from simply having a premature baby to a child with a rare disease?

Well, back when Princess was only 3 weeks old, she became anemic and also had her first bout with metabolic acidosis. Her blood's pH level was acidic. Blood pH is usually alkaline between 7.35 and 7.45. I don't know what Princess's levels were, but her electrolytes were obviously out of whack. Her neonatologist at the time said that it could be the fortifier they were using, as he had seen this happen to other babies there. We were primarily concerned about the anemia at that time, as there was the possibility of a blood transfusion. So, after another week on bubble C-PAP, Princess was back in the intermediate room and progressing. Her electrolytes had stabilized and things were fine. Then one of her nurses noticed that she seemed to be hypertensive. So the neonatologist ordered an echo cardiogram and a renal ultrasound. He wanted to rule out anything wrong with the heart and anything wrong with the kidneys. Physically, both organs were fine. So the cardiologist there on the floor ordered that her blood pressure be taken when she was asleep in her right arm. (Usually they take it in the leg for babies.) Well, after doing that, he seemed happy with the results he was getting. They were more in the normal range. He attributed it to the stress of the NICU. When we were discharged, we didn't have a cardiologist follow up.

When we met with the pediatrician, and I told her that Princess was hypertensive in the NICU, she referred us to a pediatric cardiologist. She just wanted to make sure her blood pressure had truly stabilized, as she didn't have a cuff that small to check herself. So, about two weeks after we were discharged from the hospital, we were in Dr. K's office for another echo and then back later that afternoon for our appointment. At that appointment, he told me that she had cardiomyopathy (thickening of the heart wall) and he hadn't seen it in a child that young. So he was going to talk to some colleagues of his and go from there. He also didn't like the blood pressure at all. Two days after that, we were called back to his office. We were there from about 1:30 in the afternoon until about 5p. In that time, we did another echo, another renal ultrasound, more blood pressures and lab work. When we left his office, we were told to go over to the hospital for a repeat blood draw. Dr. K wanted to make sure that the lab outside his office hadn't messed up. So we did that. By the
time we got home, it was almost 6:30p. Two hours later, Dr. K was calling me saying that he wanted Princess admitted to the hospital. He'd already called. They had a bed ready, we just had to get there. So I packed a few things, and we were off to the hospital again, two weeks after being sent home. This time, Princess was in the PICU. Dr. F met us there. He had admitted Princess the week before with GI bleeding that was the last of the milk protein allergy. He told me that usually high potassium was a lab screw up. They need to get a serum potassium level, but if the blood cells burst, they release more potassium into the blood serum. But he agreed to chase the potassium level. Dr. K also wanted to start her on medication so Dr. F was on board with that being started in the hospital because they needed to monitor Princess's blood sugar levels. So that meant heel sticks after every bottle!

Well, then we had another doctor, Dr. T. He didn't like the potassium levels in Princess and suggested a
femoral artery stick. I couldn't be in the room when they did that. I knew it was painful and I just couldn't be there to watch her go through that. There were about three more echos done, one by Dr. K while my mom was holding and feeding her. The poor kiddo had blood draws at least once to twice a day and heel sticks 8 times a day. Dr. K decided that Princess needed an MRI to double check for a congenital heart defect that he may not be seeing on all the echos. He was also going to make sure that there wasn't any narrowing of the arteries to the kidneys that could be causing the hypertension. We also met with a nephrologist and and an endocrinologist. The endocrinologist wanted a few labs, but said they were highly unlikely, but he just wanted to be sure. The nephrologist hadn't seen anything on the renal ultrasounds but was on board with the MRI to check for narrowing. So, things were looking like they were going to be taken care of. The only problem was that Dr. K said that if there was a CHD, he was going to have Princess transferred to Stanford because she would need immediate surgery. If there wasn't a CHD, we could likely go home as soon as the potassium was controlled. So that was looming over my head when Saturday came around. We were still waiting on the MRI, as there had been some accidents and other things that bumped Princess down the wait list.

Princess was now 3 months old, so she had another monthly picture in the hospital. Princess's dad came to visit on Saturday since he was off of work during the day and Little Man was at his other grandparent's house. So after Dr. K stopped by, I went downstairs to call my mom and let her know what had happened. She had just gotten home. When I came back up to the room, it looked like a war zone! There were about four people hovering around Princess. I looked at her monitor, and her heart was beating and she was breathing. So I started asking what was going on. They were going to start an IV. I was okay with that because she would need it during the MRI because there was going to be contrast and she would have to stop all her feeds until afterwards. But there was also a respiratory therapist there for a breathing treatment. And then the internist came in and wanted to change Princess's formula. I asked about the breathing treatment. the RT said it was to blow off some potassium. I agreed to that. They also told me they were going to give her something to bring down the blood pressure immediately and something to bring down the potassium. Well, the medication for the potassium was okay, but they never did anything for the blood pressure as they wanted to give the medication she was on more time to work. As for the formula, well, I looked up the one they wanted to give her on my phone while I was helping keep Princess still for the IV. It said it contained milk protein. So I put a stop to that immediately the next time I saw the nurse, which was after IV therapy gave up trying to get an IV in and decided to call the NICU nurses down to get it. Somewhere between finding the formula and IV therapy not being able to get anything started, I lost it. When the NICU nurses came down, one of them remembered me. She told me they were going to get the IV started and at the same time they were going to hopefully get enough blood for the endocrinologist's tests so they wouldn't have to poke Princess again. I held it together long enough afterwards to call my mom and tell her what had transpired. She turned around and came back. That night, I let Princess's dad and grandpa keep watch over her while my mom and I went to get a hotel so I could maybe get some sleep. Sunday morning, I woke up at 5a and went outside. I broke down again. No one knew what was wrong. I was frustrated and scared. Were they ever going to find the answer?


It was decided that I would go pick Little Man up from his grandparent's house, I would spend some time with him, pack my bag like we were going to be transferred, and bring Little Man to stay with my mom, just in case Princess was transferred. So I took Little Man to the sprayground at the park, since it was hot that day and let him play in the water. Afterwards, I brought him with me to the hospital, and handed him over to my mom. I then went back to keeping watch over Princess. They told me that she would have her MRI at 10 the next morning, so she would have to stop her feeds at 6. So I adjusted her schedule (we had already stopped the blood sugar tests) and was done feeding her before 6a. By 9:45a, she was miserable. She was starving and I couldn't do anything about it. So I pulled out my phone and started playing songs from my Cloud Player. When we got to Building 429's "We Won't Be Shaken," Princess finally settled down. That was when they came in to get her for her the MRI. So she was wheeled down to the MRI building, I held her as I talked to the anesthesiologist about how far under they were going to put her and how long it would take. She wasn't going to be that far under, but they would be monitoring her just in case she needed to be intubated. I was then led to a waiting area that ironically was in the entrance of the hospital. I sat there for a long time. I eventually paced. It was almost an hour and half before they came to get me and lead me back to recovery. She wasn't in recovery long and we were headed back to her room.

Later that afternoon, I was feeding her, wondering when we would at least get to disconnect the IV bag when I heard Dr. T talking with a couple of other docs. I think one of them was even the med student to the nephrologist. Then I heard the phone ring. I wasn't trying to listen, but her room in the PICU was right outside the nurses station and if I closed the door all the way, it was way too stuffy in there, so I had the door open about 4 inches. That's when I heard Dr. T say, "And the aorta is okay?" I knew then that he was talking to Dr. K. I tried to listen, but couldn't make out a lot. I kind of figured we were going to be going

home that night. The nurse came in a little while later and I asked about discontinuing the IV bag, as we had taken 2 feedings fine. She agreed and told me that there was a chance we might be going home. Well, that was at 3:30p that I overheard the doc. We didn't sign our discharge papers and leave until almost 8p. The biggest reason was because we were waiting on the pharmacy to get her medication together. It gave me time to talk to the nephrologist, who told me there was no narrowing of the vessels to the kidneys, so that wasn't the problem but she wanted to see us in a month. It also gave me time to talk to Child Life and get an update on Princess's Beads of Courage.

A month later, we saw the nephrologist. She didn't have any answers, but wanted another blood sample. When we got home, I got a message saying to pick up kayexalate at the pharmacy, as her potassium was high again. This freaked me out, but after calling Dr. K and weighing my options, we went ahead and did the kayexalate at home and reran the labs in the morning. Well, that turned into a nightmare because they messed up at the lab (the sample had hemolyzed and so they didn't report the potassium) and we had to go back a second time. So after that, we thought things were good. We then got a call a few days later to pick up ANOTHER medication. This one they had tried to call in, but it had to be compounded and so they had to find a compounding pharmacy. So Princess started on that medication as well as the other one. Towards the end of the month, we went off to Stanford. Then the following week, we met with another endocrinologist. That's where we got our diagnosis of PHA2! Princess had just turned 5 months old. That's rather quick when it comes to a diagnosis. On average, it can take 7 or more YEARS to get a diagnosis. In that time, you could see at least 8 doctors. We saw about 8, if you don't count the physicians on the floor of the PICU. If you count them, that's 10. So if you are in that process of diagnosis, know you are not alone, even though you may feel like it.

And if you get a diagnosis, please go check out the

National Organization for Rare Disorders (NORD) 

and 

Global Genes.

Both of these places have lists of rare diseases and ways to get involved with other families, foundations, and organizations.

NORD partnered with the European Rare Disease Organization (EURORDIS) back in 2009 to bring World Rare Disease Day to the US. It was started back in 2008. In 2013, over 70 countries participated in World Rare Disease Day. This year, World Rare Disease Day is TOMORROW, February 28. Through the Global Genes Project, we are encouraging everyone to wear blue jeans tomorrow. I made a bunch of jeans ribbons and handed them out to people we knew. If you got one, please wear it tomorrow.

I also made an profile picture for my Facebook page. If you are Facebook friends with me, feel free to steal it from me and use it as your own profile pic for the day.

I also had the opportunity to include Princess in a DVD that is at the US Capitol this very week! She was included with other PHA kids. I did something strange in the first few days after we got the diagnosis of PHA2. I plugged it into Facebook. I don't know if I thought I was plugging it into the search bar on my browser or what, but I found that there was actually a group of other Facebook users who had children (or were themselves) diagnosed with PHA. Most of them had PHA1 (salt wasting). There was only one other child with PHA2. When we began researching PHA2, we literally found the same information on about 6 different websites. There wasn't that much. There has been a few new discoveries around this disorder: a couple more genes that it's linked to, the fact that it can be a de novo mutation (a genetic mutation for the first time in a family member), testing for which gene is affected. All of these things are great news for us, though none of it changes the course of treatment: medication for life, a low potassium diet for life.

By definition a rare disease is one that affects less than 200,000 people. There are over 7000 rare diseases. They affect approximately 1 in 10 people in the US. So that's approximately 30 MILLION people with some type of rare disease. Over half of those people are children. And sadly, 30% of children diagnosed with a rare disease won't live to see their fifth birthday. Why? Because there is no treatment for 95% of rare diseases. Princess is lucky. Her disease has a treatment: medication. She'll be on it the rest of her life. But that is why we must continue to fight for rare diseases. Alone, we may be rare, but together, we are strong!

Milestone Monday: Lady GaGa

Okay, so I was going to post something else for today, but then Thursday happened. Thursdays are our usual weekly therapy days with J. Princess gets a 45 minute session once a week. The first week in February, we didn't get our therapy session because we dragged J to the developmental clinic at the hospital. (There will be a post on that next week.) So Thursday night, we were all having dinner. We had given Princess some bread and she started smacking her lips and thrusting her tongue down in her mouth. It was like she had a piece of bread stuck to the roof of her mouth. So I checked. Nothing. Then, out of nowhere:

"GaGaDaDa!"

Yep, Princess started babbling! Of course she does this AFTER therapy! And since then, every time we sit down to eat or at other random times, she just bursts out into "GaGaDaDa!" And other random baby words. So far, I've heard: "Ma" and "BuBa" and "GaGa" and "DaDa." Of course, they have no real meaning, to us at least. For Princess, it means that she is talking! She's trying to do what we do, which is talk!

She's gotten very good at making her needs known. She has many different vocalizations for different things. And she's very vocal. And now, she's got "words" behind her! Oh boy! What have we done?

(There will be most posts later this week, as we had a very adventurous weekend and are planning on a very adventurous week!)

CHD Awareness Week

This week is Congenital Heart Defect awareness week. And while we know what caused Princess' heart condition, you can't help but bond with other Heart Families when you are seeing a pediatric cardiologist. As it stands right now, I personally know 2 Heart Mammas with Heart Babies. I have come to know others online through various other ways: blogs, support groups, etc. CHDs affect 1 in 100 children! And while surgery can repair a broken heart in a child, it isn't a cure. And while some children require heart transplants, it means a lifetime of medication and doctors visits for them.

So what can you do? Well, there are simple things:

• DONATE BLOOD: This is simple and easy to do. Anyone healthy over 18 and 110lbs can donate blood. It doesn't take long and they give you free cookies afterward! Many children with CHDs require blood transfusions. Princess almost did.

• ORGAN DONATION: While this may be a simple box to check on your driver's license, please don't take it lightly. Talk to your family about it. Let them know you are an organ donor. And if, by some chance, your child earns their angel wings at some point and their organs are healthy, please donate them. There are children who are waiting for a donation too. Organ donors can save many lives.

• PULSE OX MONITORING: This is SO SIMPLE. If you or someone you know is pregnant or just had a baby, tell them to ask for pulse ox monitoring. It's a simple, non-invasive test. Both my children were monitored after their birth. Princess, obviously, but Little Man was as well. He was born with the cord wrapped around his neck, so the hospital thought it was important to put him on the monitor. It can be the first indicator of a CHD.

• ECHOCARDIOGRAMS FOR SPORTS PHYSICALS: This one is near and dear to my heart. When Princess was first diagnosed with cardiomyopathy, I Googled it. And what came up were young people having heart attacks and dying on the sports fields. This is something that is easily preventable. Just ask that your child have an echocardiogram (ECG or heart echo) as part of their sports physicals. It is another non-invasive test. It's an ultrasound of your heart. One of my Heart Mamma friends just found out that her oldest has a CHD because the youngest was at his cardiology appointment and they were curious. It wasn't required as part of his sports physical and he's a wrestler.

• AWARENESS: This is why I'm doing this post. Whereas Princess will, hopefully, no longer have her left ventricular hypertrophy because it will be such a small part of her heart that is damaged, there are kids out there who will always have a heart defect. They will always have the scars of their heart defect. They will always have to take medication, see specialists, have tests and procedures done. CHDs affect 1 in 100 children.

So, while Princess doesn't have a true CHD, it was caused by her PHA2, we still are aware that 1 in 100 babies are born with congenital heart defects and many of those are preemies. Princess was a preemie and she very well could have had a hole in her heart. There were many babies in the NICU that did. So please hug your children tight today and make sure other parents out there know the simple things they can do to help their children. And while surgery will fix many CHDs, it isn't a cure. More research is needed to find out if there will be a cure. Lots of love today on Heart Day.

Learning What to Eat

So now that Princess is eating food as well as her formula, things have gotten a little difficult. Even before we went back to the nephrologist after we got the diagnosis from the endocrinologist, I came to the realization that Princess probably shouldn't have any high potassium foods. I mean, yes, she is on medication to help with her potassium levels, but we probably shouldn't be just giving her foods that excessively high in potassium. I mean, she is still growing and the medication level is adjusted about every couple of months for that reason. She is also have labs done to check her potassium about every 2-3 months now. I know that also factors into her dosage of the medication. I just worry that if she isn't on the correct dosage and I give her something high in potassium, we may end up in the hospital.

So we met with the nutritionist after we met with the nephrologist in November. At that point, I was already doing what she would recommend: read labels and watch portion sizes. Yeah, I've become really good at reading labels. Unfortunately, potassium isn't usually listed on the label. Thankfully, my mom found a website that will give full nutritional information on almost everything. So that's our go to if we have questions about what Princess can and cannot have. I started making my own baby food at that point too. I asked WIC to quit giving me the baby food vouchers because there's only like 6 different baby food fruits and veggies that Princess can have. She was able to have more food if I just took what she could have and pureed it in the food processor.

So, as a result of Princess's condition, we have decided to give up high potassium foods as well. I say "we" because I don't want Princess to feel that she is different. I know, eventually, I'm going to have to tell her when she's older. I mean, she's going to ask why she has to keep taking medication, why she has to go doctors all the time, why she has to continually get labs done, etc. So, yeah, I'm not looking forward to that conversation, but it will come. Well, initially, I thought we'd just be giving up bananas. But then I looked up "low potassium diet" online. (This was before we met with the nephrologist and nutritionist.) Oh was I surprised! Here's the short list:

• Bananas
• Tomatoes and tomato based products (ketchup, pasta sauce, salsa, etc)
• Potatoes and potato based products (French fries, mashed potatoes, etc)
• Nuts (almonds, walnuts, pistachios, etc)
• Beans
• Melons (except watermelon)
• Kiwi
• Avocado
• Fresh Pears
• Fresh Peaches
• Oranges and orange juice
• Raisins
• Raw Carrots
• Sweet Potatoes
• Winter Squash
• Chocolate
• Yogurt
• Milk

Well, we go back to the nephrologist next week and I am definitely asking about the milk. I mean, Princess is almost a year old. She'll be coming off the formula soon. That's typically when you transition to whole milk. But milk is considered high in potassium. So I don't know what we're going to do. Are we going to limit her milk intake? Are we going to increase her medication? That's for the doc to decide.

I know I just shared this photo the other day, but I wanted to share it here too. I just kind of works!

This of course is going to follow us the rest of her life. In fact, in talking with J, our developmental therapist, he says that though we may not need PT/OT/Speech past 3 years of age, it would probably be a good idea to keep her on an IEP due to the medical issues. I don't know what that will look like. We've still got a year and a half before we transition from IFSP to IEP, so we'll have to see. But if it will make talking to the schools about her disorder and what she can and cannot have easier, I'm all for it!

So, if I ever get to go out with people without Princess or Little Man, don't be surprised if I order a side of mashed potatoes or sliced tomatoes! It's because we are trying our best to keep Princess healthy.

Schedules and Routines

Little Man is now 4 years old. He is crazy smart. He is really into numbers and time.

Since his dad and I are going through the Big Crazy Mess (i.e. Divorce), he has had some issues adjusting to things. Apparently, the house rules I hung a couple months before we left are still up at the house. I don't know how well Little Man's dad follows them. But I recreated the rule chart for our house.

I got most of these rules, in some way, from the Duggar Family's House Guidelines. Granted, they have 22 different guidelines and we only have 10, I think ours work for our family. We even adapted some of these for our Sunday School class! (You can see them here along with our other bulletin boards.) For Little Man, if he breaks one of the rules, he loses a toy. His favorite toys right now are Legos. So you can imagine that this makes the most impact if he loses his Legos.

Because Little Man is so fascinated with time right now, his schedule goes beyond a typical picture schedule like you might use with a typical 4 year old. Little Man can read a lot of words and has a very good memory. And since kids need a schedule and routine, this is Little Man's schedule:

We've also started doing chores. I've been really bad about remembering to do things like a sticker chart or something like that. So I went looking. I found Kid's Chore Chart Cards at Confessions of a Homeschooler. I liked them, but I didn't have a pocket chart and I only have one kid. Thankfully at the bottom of that post, she linked to Shining Our Light's Chore Chart. I liked what she did. The only thing I didn't like was the prize box. Yes, I'm one of those mom's who is against an allowance. Well, not really. But in our house, a chore is something you do to help others. (It goes with #9 on our rules.)

Well, I had set it up very similar to Shining Our Light's except I didn't have the "Little Man needs ___ tickets today." Initially, I had them all being "chores" but just recently, we realized that some of them are more "routine" and should be done daily and not "chores."

So we have the following:

This is Little Man's Routine. They are things he needs to do EVERY DAY. He has 4 things in the morning and 3 things in the afternoon/evening. And even though he is 4 and working on getting rid of his nap, he still needs one. If he doesn't have one, he gets CRANKY in the evening! The "Clean Play Room" means he has to pick up ALL of his TOYS wherever they are, his room, the living room, the playroom. When he does his routine he gets tickets:

That last spot is for his "Best Bee-havior." If he is on his best behavior all day and doesn't back talk, fuss, argue, and basically follows all of the rules, then he gets this last card. If he gets all of his tickets, he gets a sticker:

When he gets all his stickers he can have tablet time.

Now, he does have other chores. Remember when I said earlier that if he misbehaves he gets a toy taken away? Well, he has the chance to "earn" those toys back by doing chores. Right now, he only has 3. We are going to eventually do 4. When we have no more toys that he has lost, he will just have to do them. Maybe there will be an allowance or a reward or something. I don't know yet. So this is what we have to track those chores:

He has things like:

Empty the Dishwasher (the things he can: silverware, cups, etc)

Set Table (put the silverware out, butter, things he can)

Clear Table (what he can)

Put Dirty Clothes in Laundry (this is actually help put them in the washer)

Fold Laundry

Put Laundry Away 

Take Trash Out (help with bathroom trash cans)

Clean Bathrooms (he has to help wipe down the surfaces)

Dust Living Room (this could be his room, play room, etc)

So far this system has been working. I know it will need tweaking as he gets older, but it's a start for right now.

Milestone Monday: Teeth and Spaghetti

So the past month has been kind of rough. After we had our crisis of the stomach flu, Princess cut her first tooth! Actually, I probably should have known she wasn't feeling well because I noticed the tooth had finally popped through the day she got sick and she wasn't fussing about it. But then, right after that first bottom tooth, the one beside it popped through too! So it was like 2 to 3 weeks STRAIGHT of teething pain! And because of her PHA2 and the medication she's on she can ONLY have Tylenol. Glad I got an updated dosage at the pediatrician's when we went in at the beginning of January for her Synagis shot.

One of the other things that may not seem like a milestone to everyone else, but is kind of a big deal to me, is that Princess got to have spaghetti! (I'm working on a post about her dietary restrictions.) One of the things she can't have a lot of is tomatoes. This includes things like ketchup and spaghetti sauce. Well, we managed to find ONE spaghetti sauce that is lower in potassium. And the way we mix it all in with spaghetti noodles, she really doesn't get THAT MUCH sauce. And now that she is really getting good at feeding herself, she got to have spaghetti with us for the first time! Like any other child, she wore most of it. Fortunately, we took her clothes off and let her eat it that way. Then she went STRAIGHT into the bathtub!

Princess is sitting up well by herself. Feeding herself well and we are working on crawling. She may be 10 months old, but we're not really close to the point of crawling yet. Her therapist comes out once a week, and we play. She loves the toys he brings (as does Little Man) and we are trying to find new ways to get her on all fours without her screaming at us. She is generally a happy little girl, but she does have a temper. She's curious and into everything. She sometimes gets frustrated because I think her brain tells her that she needs to get to something, but she just can't figure out how to get there. She'll figure it out soon enough!

WOW! A Month?

How did  a whole month go by and I didn't update this blog? Wow!

A lot has happened in the past month. I'm going to do a Milestone Monday tomorrow and some other updates this week, hopefully, as well.

Princess had her big developmental clinic appointment last week. I'll be doing a post on that.

She sees the nephrologist next week. There will undoubtedly be a post on that.

I've been having issues getting her formula. Yeah, probably a rant post on that when it ever gets accomplished.

Little Man has been having infrequent schooling due to some of Princess's appointments, but we get to have a full on week this week! So there will be a school update.

There will also be an update about our routines. I have to go in and redo our calendar board as it's kind of not liking the constant weather change of our sun room. Eh. I guess it was to be expected!

Oh, and we ordered me a new bed! So yeah, in a couple weeks, after we paint my room, there will be a post on that. And we are planning on going to the coast for the three day holiday weekend. So there will be a post on that! As you can see, I've got a lot coming up, I've just got to sit down and do it! Okay, off to upload and update pictures for the blog!