Long overdue update, but we have great news!!

Guess what? Micah can eat! We found a way to make his little body react a lot less to all the foods we are trialing. Why did it take so long to get here, you ask? Because no doctor knows about this kind of diet. I had to do online research through allergy groups and such. I even asked the nutritionist about it and she had no idea, had never heard of this sort of thing before but gave us the go ahead. So what exactly did we do?? Well, we started a rotation diet with Micah about 3wks ago. That means we trial 3 foods at once, one food per day. So the same food only comes back every 3 days. Never 2 days in a row or on a constant increase everyday like before. We’ve been trialing Quinoa, Parsnips and Butternut Squash this way… and guess what? Apart from a start up hiccup (literally too!) and having to remove Quinoa, this is working a miracle in my boy. He can now eat Parsnips, Butternut Squash and his Peaches. OMG, say what??? We are about to introduce 3 more foods this week: Melon, Beets and Lentils. Today is Melon. We shall hopefully gain 3 more safes in another 3wks. And then we will be up to 6 foods!!! Can you imagine? My boy is eating! He gets to have meals every day. He is so happy with all the different tastes..

Ohh, once the food has come back at least 7 times in the rotation without issue, we consider it safe and we can then have it in his diet whenever. Even mixed with other foods. So now starts my journey of meal planning and recipes. What can I do with peaches, parsnips and butternut? Hmm… We still have to really work on his muscles and oral motor skills as he still only eats purees, but we are slowly getting there. It is def thicker than before. Next step is lumps in the food.

More updates coming soon… There’s new things happening all the time with Micah now. Oh if you want to see the smaller day to day stuff, we also post on the Micah’s Facebook page. Pictures, videos and funny little things he does.


Joyeux Noël!

For those that don’t speak French, that’s Merry Christmas! I can’t believe we are 3 days away from the New Year already. But you know what? I am soo glad 2017 is on its way out. Goodbye Hell year! But there are also a few things I am happy about from the past 12months… Learning about our genetics, being the big one. Talking of which, we just got Sam (9) and Eli’s (5) results. I was expecting that at least one of them, if not both would have 15q13.3 microdup, and praying to the angels above that no more 22q would pop up. Well, I was right about that. Turns out Samuel’s genetic composition came out all clear and normal, while Eli’s shows the 15q microdup. So that makes Dad and Micah for 22q DS, and Micah, Eli and I for 15q microdup. It’s funny because going in for testing I would have totally thought Sam would have been the one to get the Dx, not Eli… but I can totally see it in him too. The ADHD, the anxiety, the sleep troubles, etc. I’m happy it’s all done and over with and we can finally move forward knowing all this and how to help each and every one of us.

Since it’s Christmas time, what did everyone get? Did you have a good time? Did you visit friends and family? I want to know. Oh and did you make special meals for your allergy peeps? We had a party with my father’s extended family on the 17th like we always do each year. It was nice to see everyone. And then on the 23rd, we went to my parents house for Christmas Eve eve dinner and gifts. Since they were all having lasagna, I decided to make my own safe version for us 4 (Micah doesn’t eat)… It was gluten free, vegan and soy/corn free and no salicylates because we react to those fruits and veg. I made the cheese sauce in my amazing Bellini machine with potatoes, carrots, celery, leeks, etc. Sooo good, and you wouldnt even know it was full of veg! If you want to look it up, it is called That Cheese Sauce on CrunchWorthy blog. Anyway, good food was had by all, and then gift giving happened. Boys got new Lego sets and hubby and I got a few small things for kitchen and our room (new bamboo sheets!). It was a lot of fun… Then we came home late and slept in on the 24th. We did our own thing on Christmas morning, opening of the gifts done by 7am lol… boys are early risers. They said they had the best Christmas ever. Which I want to say a major major thank you from all of us to all those who donated. It wouldn’t have been possible without you 🙂 You rock our socks! ❤

As for Micah, he got a small kitchen toy set with bowls and plates and utensils and cups. He adores it! Pretends to make meals and eat. Aww! The boy so wants to eat, it breaks my heart. But he is absolutely adorable when he comes to you with a spoon, giving you some of his “soup”. He also got a wooden shape sorter cube, a big stuffed Skye (Paw Patrol) plushie, and a Paw Patrol game. He is in PP heaven! lol

Talking about Micah and food, I need to make a sad update… His little body couldn’t handle the peaches so much anymore since he got really sick in October and November. I knew the possibilities of losing a safe were real with FPIES, as we had already lost Butternut Squash like that, but after removal of Peaches for 1-2days, he had no more distended belly, no more reflux, no more joint pains and some weight gain that he hadn’t had in over 6wks. I tried again just a small portion on day 3, and all came back again 😦 So now we await testing because we are 100% certain the boy has MCAS. He actually just gave us a major flare up with the cold temps outside 3 days ago. He’s been in reaction mode since. Diarrhea, skin rash (the small pimples he always gets from reactions and hives), reflux, GI pain, flushing on cheeks and ears, and joint pain is back. Ugh! Everyone I spoke to online recently asked if we had tested him for MCAS, and the more I think about it, the more I agree. We thought maybe a yr ago, but now it’s obvious. He reacts to everything (!!) from foods, to fabrics, to temperature changes, air pressure, his own tears, plastic, etc. The boy cannot get a break. So we now wait til his reaction is over… give him a 1-2 wk gut rest, and then trial Moose meat broth for the GAPS diet until he sees Immunology end of January and demand for testing. Because I am positive with the right meds (just maybe even an H1 and H2 blocker and cromolyn) he would pass foods and not react as much all the time. And when that happens, we plan to retrial peaches and see if it works. He loooves those! We also are running out of the frozen peaches we had received so the timing is ok. Until we can find fresh ones, he gets a gut rest. As for the H1 and H2, those are just Zyrtec and Zantac. So if Immuno will Rx those, we are off!

Oh and I don’t think I updated about the most important date of all this month… Micah is TWO!! Happy birthday my sweet little boy. I can’t believe you are already starting your 3rd year with us. You are so full of joy, it’s contagious!
You now weigh about 21lbs13oz (still on 3rd %) and are 32.5in tall (3rd % too). Tiny but mighty! You don’t talk but you let us know very firmly with signs what you want. Your favorite of all? PLAY! You have about 70 or so signs now and you are doing great. We are so proud of you! We love you! And we truly really hope that by your next birthday you have some foods and a nice big vocab to go along with it 😀 You are working so hard with all those docs to prove to everyone that 22Q, 15Q, FPIES, CHD and possibly MCAS and ASD aren’t the end of the world. Big big hugs from mama ❤


Yeah, you know the holidays are coming up, and that means parties (with lots of food), and gifts, and seeing all your friends and family. Well, right now, our focus is still on Micah and his feeding troubles and his Neutropenia. If his numbers don’t go back up a little (his Neutrophils/WBC), we will have to go to extreme measures and possibly avoid it all for him. I’m looking for a reusable medical mask for him at this point, but it’s hard to find baby/toddler size. We are also having to budget like crazy because at the rate his food is costing us, we are now trialing Rabbit (and it is 30$/piece), we are ending up taking from our Gift Savings pile for the older 2 boys 😦 I hate doing that to them. They deserve a happy Christmas. They deserve their own spotlight too. We always focus so much on the baby and all his medical appointments and such, they feel left out. Then the one time where I can really spoil them (I mean, SANTA can, shh!), now they might not get to. I was talking to a good friend of mine and she suggested I create a GoFundMe page for all his needs. What a great idea! So I went to work yesterday and created his page. If you’d like to donate or go read up on comments and donations (lets reach our goal! go go go!), the updates and such, please go to: https://www.gofundme.com/micahs-fpies-22q-medical-fund

I want to say a very very big thank you for all those who have stuck by us trying to help out in any way they can since we started on this journey! I don’t know what we’d do without you!



We’ve been scrambling

No no, not like eggs… but close enough. We look like chickens without a head right now. We are looking for Peaches for my sweet little boy. It is not the season for them anymore and Micah needs to eat. That is his ONLY safe food right now and we are running low. Actually, I have enough until Thursday and that is all. We’ve been calling left and right, supermarkets, farms, local organic stores, etc…. nobody has any, and if they do, it is crazy expensive at like 4 peaches for 6-7$. We cannot afford that right now as that is what would last him 2 days, and we are working on 1 income right now. Pray for a miracle! And if you are local, or you know where to find some awesome fresh peaches, let us know! Organic or not, doesn’t matter. Just fresh! He can’t do frozen or dried because of all the added additives in there, and he can’t chew so it has to mix into a very soft puree.

I’ll update again when we have more news! 🙂

It’s been a while…

After my last post in September, we have had a few more appointments for the little guy regarding his FPIES, Digeorge/22Q and dup15Q diagnoses. First we saw OT, then SLP, then had an EEG, and then saw GI again in Oct.

OT said he is on track for a few things but definitely delayed in others, like language, physical and cognitive. Play skills socially he is a little bit behind, around an 15-18month old. Overall I would say he is about 15months old in his development, which isn’t so bad but we don’t want him getting any further behind than that. Since he also does not talk yet, he grunts and signs (ASL), SLP wants to send him for ASD evaluation but also for a possible Speech Apraxia since it is very common with kids like him. She will evaluate him herself for a Cleft Palate issue (aka Resonance problem; hypernasal etc.), and that will be in February at our next appointment as we await news from our ASD clinic request (there is a 1yr wait 😦 Boo!)

We also had an EEG done because at some point in September, while trialing Kale, he started having blinking seizures very often and then had one where his arm was twitching and lip downturned and moving. So, they wanted to rule out seizures/epilepsy since it is a major symptom of 22Q AND 15Q. No news about that yet but he was good for everything they made him do during the appointment. He hated the cables all over his head and wanted nothing to do with the doctors there but he got through it… On call ER doctor has the results so I guess it will be in the system when we go see Genetics or Neuro next.

As for GI, well we are kind of at a standstill with everything. He can still only eat Peaches and we have failed 3 more foods (kale, plums and now buttercup squash). So I’m planning on maybe doing a 1 month long gut rest and see where it takes us in December.

OMG, I can’t believe he will be 2 yrs old by then! I have to start thinking about bday party and gifts and such. He loooves Paw Patrol, trains, Teletubbies, playing with his brothers and watching Baby Signing Time. Hmm… Maybe some type of ASL game? Have any ideas??

There’s even more??

Micah had his Genetics follow up on Wednesday to discuss about DiGeorge/22Q and teach us about what the future might/will hold for our sweet little boy. Well it turns out there’s even more that I hadn’t understood properly the first time they told us about this Dx in May.  I knew about the 22Q11.2 Deletion Syndrome and then they had also mentioned something about an extra gene that gives him more probability of having ADHD. Well, it turns out that’s not the full extent of it. They actually found a 2nd chromosome abnormality called 15Q13.3 Duplication Syndrome. There’s a part of his chromosome 15 that is copied. He has extra. This is a brand new medically observed condition so not much is known about it. It was discovered only in 2009 and nobody really knows what it entails except for what they see in the young kids who now have it. Nothing about adulthood and such. But the big question marks for that one are:

  • Feeding and growth – infant feeding problems and/or overeating in some older children. Growth may be affected.
  • Delayed development – occupational therapy can help with difficulties with motor
    skills; not all children are affected and fine motor skills (handling objects etc) may be more impaired than gross motor skills (walking etc)
  • Learning (intellectual) disabilities – learning support may be necessary in some
    children, with a range of support needed depending on the level of learning disability.
  • Communication difficulties with speech delay in some children – speech and
    occupational therapy are beneficial.
  • Behavioural/emotional disorders – Autistic spectrum disorders, emotional instability and/or sensory processing disorder are described in some children, requiring extra support at home and school.
  • Sleep – Insomnia is common and often quite severe, requiring medication and/or sleep training.
  • Epilepsy – seizures can be a feature requiring regular brain monitoring and
    medication.”Chromosome 15 is a hotspot for deletions and duplications (Fig. 1). On chromosome 15, at 15q13.3, we see deletions or duplications of varying sizes in patients with neuropsychiatric disease. Often, these changes will include the same genes. However, we observe the genetic phenomenon of variable expressivity among patients, with the same genetic changes manifesting as different neuropsychiatric conditions (e.g. ASD, bipolar disorder, epilepsy), and at different levels of severity.Additionally, these changes also exhibit incomplete penetrance, with not all individuals carrying the deletions or duplications having neurological disease.”

“By reviewing the literature, we determined the traits that are associated with different numbers of CHRNA7, suggesting that the gene is sensitive to how many copies are present (Fig. 2)Rare individuals with zero copies of CHRNA7 have the most severe condition consisting of severe intellectual disability, seizures, and changes in brain morphology. More commonly, we identify individuals with one copy of CHRNA7 deleted, which we term 15q13.3 Microdeletion Syndrome. These patients have intellectual disability, seizures, and language impairment. Duplications and triplications (having 4 copies total) of CHRNA7 have much milder neurological manifestations, with mild learning problems, ASD, ADHD, and mood disorders such as bipolar disorder or depression.

Although the pathogenicity of 15q13.3 duplications encompassing CHRNA7 have a lower estimation of penetrance (0.87) than most other genomic disorders,6patients with such microduplications exhibit various clinical symptoms such as developmental delay/mental retardation, autism, muscular hypotonia, and a variety of neuropsychiatric disorders.15However, the relationship between birth defects such as oral clefts and microduplication of 15q13.3 involving CHRNA7 has not been previously explored.”

You can actually see that all of those are already things part of 22Q. But the 15Q13.3 Dup contains the extra CHRNA7 gene (from 1 to 4x copied. Micah has it 1x) that is the one they were telling me about. Those who have this gene are more likely to have Neuro/Behavioural issues. Well then… Now we might have a reason for MY past issues (I have a few of those listed above too… sleep, growth, ADD). Now we need to get tested for this. If one of us carries this extra chromosome abnormality/gene, then Sam and Eli will need testing for it. Eli most likely might have this from his seizures, sleep troubles, possible ADHD, etc. Fun times ahead! I am glad we are getting this done now though and will have more help for the future. It does not change anything in the way I view my kids. They are my world. They mean everything to me and I will continue to fight for them every single day, even if it means getting mama bear out there and putting up the gloves…

For the testing, we have had some bad news at the same appointment though that there were issues with our lab testing in June and nothing was sent off. What??? Grr!! So now we must redo them. But I’m glad because we now are adding the 15Q testing and everything else possible to the list. We checked off the box to give us the info of ANYTHING they might find. Genetics Counsellor will call us back as soon as she gets the results (we are going for the tests this week) and then we will meet up again and discuss a plan for all 🙂

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.


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.


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!