Holidaze??

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!

THANK YOU!

 

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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.

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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.