We finally have answers!

I’m sorry I’ve been so slow in updating y’all… it’s been a hectic few months here. A few days after my last post, Micah ended up getting very sick with what we thought was an acute reaction to his rabbit broth. But turns out we all caught what seemed to be the stomach flu one after the other…

 

And then for about a week or so, he wasn’t eating, he was having very light pale stools and was losing weight fast. So on May 1st, we got admitted to Children’s yet again for almost 2wks (til May 13th). We had to find a reason for all this. So they did a lot of testing. Genetics finally got involved, and then audiology, and had a UGI (swallow study) done… everything looked okay from what they could see then and there. Except… we got the results of the chromosome testing. My boy finally had a reason for all his issues. It’s called 22Q11.2 (pronounced: twenty two Q one one point two) Deletion Syndrome or DiGeorge Syndrome or some even call it VCFS, but it is more widely known as 22Q. A part of his chromosome 22 is missing. That is why it’s called 22Q11.2. That name says where the deletion happened. 22 for 22nd chromosome, Q for the long arm and 11.2 for the specific part that is missing. You can see on this here that it’s a very small portion. But in there, there are about 35-50 genes. Those are missing. So his 22Q affects pretty much every system in his body.

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The major ones being: CHD (heart disease), Immune system (he has Neutropenia and on/off Lymphopenia), Endocrine System (his Parathyroid is affected. He has Low PTH levels now and his blood calcium levels can drop dangerously and cause seizures), Palate (we think he has a submucous cleft palate, but we need it checked at his next appointment), Kidneys (we have a LGI, lower gi U/S scheduled for Sept which will tell us if he has any issues there) and more… there are 180 possible signs/symptoms of 22Q, Micah has many of them, including severe speech & language delays (we are working on ASL and seeing an SLP for therapy), global development delays, facial features (low set ears, flat nose bridge, wide spaced eyes, dental issues/he has a geminated tooth), GI issues (his FPIES), severe FTT (he is very slow to grow and loses weight a lot), and more… There is also the fact that up to 50% of 22Q cases have some sort of Hearing Loss issue, but that we will know more about as he grows older. As for Neuro side, we are waiting a few months/years for ASD testing as he’s still too young.

So that is where we are now. Being followed by 9 different specialist teams on a 3-6mo basis for now. We are seeing Cardiology on the 15th for his yearly followup, so I will post an update about that. Hoping his PDA is finally closed up or we will possibly discuss surgery. And we then have Immunology and Genetics appts on the 30th. Genetics is a big one as we are now awaiting test results for mommy and daddy. If one of us has 22Q also, they will have to test big bros, Sam and Eli, because there is a 50% chance of transmission if someone has it and has children. Most cases are DeNovo though, meaning they happen out of the blue. But we don’t think that is the case for Micah. There are many aspects of 22Q that I can see in my husband and would explain his issues all through his life. Let’s just hope that from now on this means things might be a bit more clear and easier to understand now that we know.

I’m gonna leave you with a few updated pictures of my sweet almost 20 month old boy. Oh and he now weighs 20.5 lbs and is 31in tall. So tiny but getting there!

Oh you can also follow up with us on Facebook at our page: Micah’s 22Q/FPIES Life

16 month update

I’m sorry for not updating more. We’ve been very busy lately with many doctor appointments for Micah and his brothers. But I have some news that might interest you about his health. First off, he’s growing! He is now 19lbs 4oz as of this weekend, and I think about 29.75in tall, which puts him at the 5% line for weight and height. It’s been a huge roller coaster of emotions lately with food reactions and low weight gains. He’s been such a trooper. We saw Neurology and Immunology on top of his 15month old pediatrician and GI appointments. Many new plans and many more future appointments. Here’s how it went:

  • Neurology: Well, because of big brother E’s history of absence seizures, and infantile spasms as a baby, and the fact Micah isn’t growing well and has many food allergies and such, the pediatrician wanted us to get an EEG to rule out something we may have not caught before. But after seeing the Neuro, they think he is doing well and doesn’t need an EEG yet, unless his condition worsens or he starts having seizures… well, would you believe that 24hrs after his appointment, he started having some type of blinking seizures (or we think it’s that) quite often. Called them back and there is no appointment until I can get it on video… tss! The problem is, it doesn’t last long and by the time we notice, we don’t have time to grab a phone and capture it.
  • Immunology: This is where things get a bit more interesting. Thinking we were just going to ask to get tested for Mast Cell disorders, after discussing his issues with the Immunologist and his team, he thinks after having a look at him that there is something much bigger and deeper going on. Apparently his features show some type of chromosome/syndrome he may have, so he sent us off to genetic testing and for a sweat test (to rule out CF, which thank god was negative!)… Now we wait on results, which we wont get until we see him next on May 31st. Ahh! So long! He also said we need to continue feeding him and sort of push through most smaller reactions or he will never eat because his body reacts to everything no matter what. He said unless we see major pain/rash or vomiting and bloody stools, to keep going.
  • Gastro: All things are going well on that end. He is gaining weight at his own rate, he looks chunkier and he is happy as usual. We are still trialing foods but have now, since March decided we will be doing the GAPS diet (another post for that). So we tried lamb broth again but that was a major fail with black blood (it came from higher up his GI system so we were told to really stop that one). We are now on day 15 on RABBIT broth (yes, rabbit lol) and doing quite well. No reactions! I think we may have just gotten us our first safe at 16months old. Yay! Next step in a few weeks is to try the meat and add a vegetable (butternut maybe?). I will definitely be posting more about all this as we enter the world of GAPS.

And it goes on and on…

It is now March… yes, MARCH!! Wow! Where is time going? Anyway, we’ve had many trials since the potato incident and I figured we needed an update. We thought buckwheat would be an easy pass after potatoes, but turns out it’s a fail also. He then went on to try Moose meat, Rutabagas and now Cauliflower. All of which turned into an added item on his No-No list.

But the good news is, we saw the GI in early Feb and she agreed to send us off to Immunology for MCAS/Mastocytosis testing and whatnot. Something is definitely up. My boy has no safe foods! He is now almost 15 months old and really wants to eat, and it breaks my heart to tell him no, but we are now waiting til further testing is done. Taking another little gut rest til he feels better. He is very constipated and has a distended belly, with muccus and bloody diapers. It needs time to heal.

We go back in mid-April to see GI again, and we see Immuno on March 22nd, so I will be updating more about those then. For now, I leave you with some pics of recent stuff he has been doing/enjoying.

New year, new food, new fail

First off, happy new year, everybody! May 2017 bring you lots of happiness, joy and health. For us, 2016 was not a good year for anybody. So we are focusing on the positive now and hoping for more passes, less stress, less anxiety, and more fun all around.

Now, yesterday we got the OK to start food trials again after a 3month break. We started with what we thought would be an easy pass… white potatoes. Yeah, that didn’t happen quite as we planned it. I boiled the potatoes in just water (no salt), until very soft and mashable. I cubed them for him to hold and try to do BLW (baby led weaning) with him like we had done with my now 4yr old. He wanted none of it, even as I tried to offer him a bite from my finger. So I decided to mash it up with a bit of his milk to get a good consistency. It wasn’t too goopy or anything. He took 1 bite, made a face, tried to remove said bite of food from his mouth with his hands, eyed went wide, he swallowed. He coughed. Then choked… and went blueish. Yep, I had to remove him from the highchair and hold him bent over my arm, face looking down and kind of help him “throw up” the food. He got so scared and cried. So did mama, inside. This was not going well… And guess what? It got worse. After this whole ordeal, he had his milk bottle (4oz of Puramino) to calm him down. And I thought we were through with all this. Nope. 45mins later, he had the grossest diaper ever. It smelled so bad, and he also got this random pimply rash on his cheek and bum. Hmm… MCAS symptom (talk about that later)??

My boy was definitely not doing well at this point. But I figured that the one bite had been eliminated fast enough through that one diaper. I was wrong yet again. about 2hrs later, he was napping with daddy in our bed and I heard screams and crying in pain for a good few mins, which he never does unless he is reacting to something and in major pain. Now that got me worried. He barely even took any potato and most of it came back up anyway… how is this happening? Poor baby!

He did have a mostly unevenful (for him… still waking every few hours for milkies) night and I thought we were out of the woods. Nope, here comes poo down the leg, and all over his pants (through the cloth diaper) after waking up this morning. Ugh! Now I’m just praying for no more… his skin is so raw and he’s in pain when I’m just trying to wipe him.

Potatoes=NO!!

Now I have left a message to our GI doc and waiting for her call back before our appointment with her next Monday. I will not be continuing trials like this. Something is definitely up that is more than just FPIES. He reacts to literally EVERYTHING! I will be demanding testing for immune and metabolic conditions as well as every other thing they can think of. I’ve done many research and am quite fairly certain it is related to Mast Cell Activation Syndrome (MCAS). He has all (and I mean ALL) the symptoms listed. So that will be tested too.Which basically means his body cannot handle the world out there.
Most well known triggers are:
– High histamine foods (CHECK, yep seems to be our case)
– Temperature extremes (CHECK, yep he reacts to the wind and cold… and in the summer time, I couldnt take him into the sun for long without getting some sort of reactions
– Airborne smells like perfumes and smoke (haven’t really tested that one yet… but it’s possible… I am starting to use my essential oils in the diffuser today and will keep an eye on him)
– Exercise (too young for this.. he is just starting to get mobile)
– Emotional stress (again, too young)
– Hormonal changes (uhh, not yet…)

His symptoms of MCAS seem to be mostly flushing of the face, pale skin (although as a newborn he was red like a tomato for weeks), itchy skin/face, red pimple rash, cardio issues, GI issues (diarrhea/vomiting/cramps), congestion/coughing/wheezing, conjunctivitis (3 times I’ve noticed already where he gets the goopy red eye), fatigue, muscle spasms/pain.

If you’d like to know more about MCAS/mastocytosis, visit wiki

I will keep y’all posted about future updates on this situation, when they call me back. And after blood tests Friday.

Have a great evening!

Birthday Update

Well, the time has come to wish my littlest dude a HAPPY BIRTHDAY! I can’t believe a year ago, I was in the hospital looking at your sweet face for the first time. You were perfect. You’ve grown into such a happy handsome little guy. We love you!

He is now walking a few steps at a time, can say DADA, and something that sounds like MUM-MUM when he cries (but I’m not sure he associates it with mama yet), and he has 5 teeth. Number 6 coming out as I type this…

As for food, we have extended the break til January 1st. But then we get to trial chickpeas or white potatoes. Yay! Which do you think is the easiest trial for the most varied meal options?

Time for a break

Nutritionist just called me back after I left her a message about a week ago. Because of all the previous many many reactions we’ve had for Micah, she wants us to take a much needed long break with food for him. His body needs to rest and heal. I asked how long is long enough, and we’re looking at possibly until his first birthday (mid-December), if not longer. Which is what I wanted back in August before trialing carrots, lamb and pears. He was already so reactive, this all just made him much worse. But we now have a good plan that I can get on board with. Yay! Take a 2 month break, and then we shall see about future trials if we need to do in hospital or not. I explained he seems to be a day 3-4 reactor if its not an acute reaction, so she doesn’t see the point in doing every single trial there for 8-10 hrs at a time. I know the plan, I know to go to ER if he needs it, etc. So I guess in December we will discuss what to trial next and I will update then.

As for recent update, he is now almost 10 months old and doing well. I have managed to start a re-lactation process to increase my milk supply enough that he sleeps better and doesn’t get so constipated and such. I plan to keep doing so and see if we can completely get rid of the formula by 1 yr old. Exclusively breastfed only would be great. Pur Amino has been a great find to fatten him up but we see many issues still with it and he is still not at baseline (not reacting) because of it.

I weighed him this morning and he is now at 15 lbs 13 oz, which means we have reached the 2%ile curve this week. Yay! He is not gaining fast, but slow and steady is our thing. 3 oz a week seems like a good thing for a boy who used to be on a downward slope for so long.

Now to prepare him for all the upcoming birthdays and holidays, without food. He is starting to get so much more aware of meals and the fact he’s hungry and doesn’t get anything. We have all 3 kids birthdays and my husbands coming in the next few weeks, plus Christmas. That will be challenging with family get togethers and such. But I’m looking at creating our safe plan with my husband and making everybody aware of it. If anybody has any tips about this, lemme know…

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What reactions look like…

I thought while we are trialing a new food now (pears) that I would post a bit about what our chronic reactions look like… Acute is more easy to spot with the vomiting right after ingestion or diarrhea 5hrs later, but with chronic it starts off not so bad, until you give more and more of the offending food and then eventually get full blown crappy (pun intended) reactions. For us, that means Micah will scream in pain for hours, sweat profusely, get a very bad acid burn rash on his little tush, diarrhea for days on end, reflux flare ups, and bad sleep habits. But this, this is what I see when I know the reaction is here:

This is a 1 minute video of a scream fest that can last up to 45-60 minutes. And during this whole time, he does not let us comfort/pick him up. It is so heartbreaking! I hate this for =him. I want to cuddle him, tell him it’s okay, tell him mommy will protect him from the bad guys (food) out there, but how? When even SNOW and WATER can make him sick?? If you’ve seen our growing list of fails, you know what I’m talking about a little bit, but did you know he is so sensitive, he needs a special kind of water (reverse osmosis or 1 hard to find very specific brand of bottled water) to make his formula with? He has also reacted to a puzzle piece, a board book page, a dust bunny he found under the rocking chair, etc. This is a constant battle for him. Micah VS The World, and right now, unfortunately, the world is winning 😦

If you want to help find a cure for FPIES, because as horrible as it is, there is also no found cure yet either. So any little amount donation can help end this horror for so many kids. Visit The FPIES Foundation and please consider giving even 1$ if possible. It would mean the world to me/Micah.