Sanfilippo Syndrome: Rare, Deadly, and Heartbreaking

Chances are, you’ve never heard of Sanfilippo Syndrome. Until it struck my family, I had no idea what it was either. Most people don’t. Which is why I’m writing this.

Sanfilippo Sydrome (also known as mucopolysaccharidosis III, MPSIII for short) is a rare autosomal recessive disease, meaning that both parents must be carriers in order for a child to be born with it. If two people carry the gene, any child they have together will have a 25% chance of not carrying the gene, 50% chance of carrying the gene like their parents, and a 25% chance of actually have Sanfilippo Syndrome.

It’s estimated that the disease afflicts 1 in 70,000 children, although incidence varies by region. There are four subtypes(A, B, C, and D), but I don’t know much about that and I won’t pretend that I do.

According to the Sanfilippo Children’s Foundation in Australia “Individuals affected by Sanfilippo lack an enzyme necessary to break down long chains of sugar molecules called mucopolysaccharides (also known as glycosaminoglycans or GAGs). As these molecules accumulate in the cells, they start causing cellular dysfunctions, particularly in the brain.” They go from seemingly normal children to hyperactive to shells of their former selves. They lose control of their bodies, ultimately ending up in wheelchairs and needing to be hand-fed by their caretakers. They lose their ability to speak. They suffer from seizures and pneumonia. They go from hyperactive to sleeping most of the day. They waste away before their loved ones’ eyes. Their life expectancy is currently 10-20 years. Sadly, twenty is very optimistic, fourteen or so seems to be the average, with some tragically passing as young as eight or nine years old. There is currently no cure and, honestly, a shamefully small amount of resources going into finding one. A drug company did trials a few years ago in Minneapolis, and although improvement was shown and families were given hope, the trials were canceled for monetary reasons. My cousin’s daughter was one of the children that participated in these trials and we all had our hearts broken when we found out the company had called it quits. Her son was already too far into the disease to be considered, but his diagnosis allowed for his little sister’s early diagnosis, before symptoms had even begun to present themselves. Now we all face the stark reality that these two wonderful children are not long for this world. I cannot imagine the pain and dread a Sanfilippo parent feels every second of their lives. It’s something that nobody should ever have to experience.

These families need hope. Please help spread awareness. Donations and prayers are greatly needed. I have included several links to websites that can give you a much better understanding of Sanfilippo Syndrome than I can.

Sanfilippo Children’s Foundation

MedlinePlus

National MPS Society

Jonah’s Just Begun

Cure Sanfilippo Foundation

Ross & Meredith

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My Bumpy Breastfeeding Journey

I’m typing this with some weird, but very useful, elastic contraption holding my double breast pump to my boobs. My son is in his jumpy, crying because he’s not being held, and my daughter is sitting at the counter next to me, eating an afternoon snack and watching Wild Kratts on the tablet (yeah, I know, dangers of screen time and all that). This is really what it’s like to be a breastfeeding mother. You pump when you can, usually while doing something else too. I always thought breastfeeding you be like how you see on TV, completely natural and instinctual, beautiful and peaceful. Yeah, it can be. But they leave out the pain in the early weeks, the struggles with supply, and how time consuming it really is.

I had my daughter in September of 2016 and was all set to exclusively breastfeed. My mama got me an electric pump for my baby shower. I picked out an Evenflo one because it was cheaper (not to jump ahead, but this was a huge mistake). My daughter was born, the nurses put her on my chest and marveled at her perfect latch minutes after being born. I was so proud. Then came the screaming of the next day. She was nursing nonstop and couldn’t be satisfied. My husband, who had declared for nine months that no child of his would ever use a pacifier, dug through the diaper bad frantically looking for the little pink camo paci I’d gotten at my baby shower. It was a bit of a relief when he found it and I could finally remove her from my breast without her wailing, but it was a mistake as far as breastfeeding (and the next eighteen months of paci addiction) were concerned. They nurses asked if I wanted to try to pump, and I told them I had my pump in my bag, so I used it. In vain. I barely pumped a drop of colostrum out, but I kept pumping and kept nursing, even when we went home. If I wasn’t nursing, I was pumping. My milk finally came in, but my supply was very low. Because she had lost more than average weight before we were released from the hospital, they doctor wanted her to come in for a weigh check a couple days later. She had lost a lot more. They sent me home with some little bottles of formula and I was crushed. I fed her the formula and kept pumping and trying to nurse her. She got to where she refused to nurse, but I still pumped. Sometimes I could pump a whole bottle in a day (pumping every two hours) but as time went on, I got less and less milk. I tried fenugreek and oatmeal, I drank a ton of water and milk, I kept taking my prenatal vitamins. I figured any little bit I could give her was better than nothing. I’d wake up in the middle of the night to use that annoying little Evenflo pump. By the time she was three months old and I got pregnant with my son, I was averaging less than an ounce a day! I finally gave up and it was sad, but a bit of relief. The terrible postpartum depression and anxiety I’d had since her birth lessened a little. She had started eating soft table foods at six weeks. She preferred to drink goat milk instead of formula after we tried it around three months. She’s now a year and a half old and will try anything. She loves food, especially spicy food. She’s smart and healthy and everything a breastfed baby is.

Even though I had a rough first go around, I was determined to make it work with my son. He was born in September of 2017 and everything started out just the same. This time around, though, we didn’t even bring a pacifier to the hospital and I hadn’t gotten a pump yet because I didn’t want to waste money if it didn’t work out again. A nurse told me that he seemed like he had a weak suckle, so they brought in the glorious Medela hospital grade pump. I pumped out some colostrum and we fed it to him with a syringe. I kept nursing him and when he’d sleep, I’d pump. I think that really helped my milk come in. They sent us home with a Medela hand pump. I kept nursing and would pump in between. My boobs hurt! They were tender and my nipples were so chapped that they had scabs! I put coconut oil on them and kept on. About a month later, my mama got me a Medela double electric pump (with carrying bag) that was on sale as an early Christmas present. My period came back at six weeks (as it had the time before) and my supply dipped a little, I kept on, but had to supplement with formula or goat milk at least one bottle a day. He’s seven months old now and that’s how it’s been ever since. Some days my milk has been enough, others it hasn’t. He has eight teeth now and eats table food. He gets at least one eight ounce bottle of formula or goat milk a day. He nurses when he can throughout the day. I pump when I get a chance. He co-sleeps and nurses all night. He’s now just a few inches shorter and a few pounds lighter than his big sister.

Nothing turned out the way I imagined and if I could go back and change some things, I would, but my kids are happy and healthy and fed, and that’s what matters.

Side note for another post: I actually lost all the baby weight very quickly with my daughter even though breastfeeding didn’t work out as well, and I’m stuck just under my delivery weight with my son. I usually walk about two miles a day, pushing a double-stroller to and from my husband’s work to take him lunch and I’ve been watching what I eat but it will not budge. I’ve been told it’s the hormones from breastfeeding. Go figure.

Philly Cheesesteak Turnovers

I know, there’s a lot of “turnover” recipes on here.

You’ll need:

  • a small beef roast (or some steaks)
  • salt and pepper
  • a little Dale’s seasoning (optional)
  • garlic powder (optional)
  • bell pepper
  • onion
  • cheese (shredded or sliced, provolone goes best but we’ve done it with Colby Jack and Pepper Jack too)
  • canned biscuits or rolls
  • butter (optional or outside of biscuits)

How to make it:

  1. Cut beef up in small strips, brown in a pan with a little butter or oil, chopped onion and bell pepper, and season to liking.
  2. Roll biscuits or rolls out flat.
  3. Put a spoonful or two of meat, onion, and bell peppers in the middle of the rolled out biscuit (make sure to leave enough room for the cheese and to be able to fold it all up inside).
  4. Put whatever amount of cheese you want on top of the meat.
  5. Fold biscuit over meat and cheese like a turnover, make sure edges are pushed down together to seal everything in. Put butter on the outside if you want.
  6. Bake in oven on temperature biscuit can suggests, until golden brown.Note: I don’t include pictures or overly detailed recipes because these are meant to be quick and easy for mamas in a hurry. They’re just for ideas. Try to make changes and have fun!

Sloppy Joe Turnovers

Everything good about a sloppy joe but not quite as sloppy.

You’ll need:

  • hamburger meat (a pound)
  • a can of sloppy joe mix
  • an onion (optional)
  • shredded cheddar cheese
  • two cans of biscuits (any type you want, can also be done with pretty much any type of roll dough in a can)
  • butter (for outside of biscuits, optional)
  • garlic (for outside of biscuits, optional)

How to make it:

  1. Scramble your hamburger meat (optional: add chopped onion for flavor).
  2. Add sloppy joe mix as directions on can states.
  3. Roll biscuits or rolls out flat.
  4. Put a spoonful or two of sloppy joe meat in the middle of each rolled out biscuit (make sure you have room to add cheese and still close biscuit completely).
  5. Sprinkle shredded cheese on top of meat (amount depends on how much you like cheese).
  6. Fold biscuit over meat and cheese like a turnover, make sure edges are pushed down together to seal everything in.
  7. Bake in oven on temperature biscuit can suggests, until golden brown.

 

Note: I don’t include pictures or overly detailed recipes because these are meant to be quick and easy for mamas in a hurry. They’re just for ideas. Try to make changes and have fun!

Easy Ways to Save Money

Something every housewife prides herself in is being frugal, especially when it comes to necessities like clothes and groceries. Here is an ever growing list of ways you can do just that!

Download the Walmart App. Gone are the days of combing through the weekly sales fliers and then driving across town because Winn-Dixie has your kid’s favorite brand of Macaroni and Cheese on sale for fifty cents less. Just do all your shopping at Walmart, scan your receipt with your phone, and they’ll give you that fifty cents difference! It all goes to your Walmart Pay account, which you can use in stores or online. You can also add all those Walmart gift cards that have little weird amounts left on them!

Download apps like Ibotta, Checkout 51, and Shopkick to earn points for cash back on certain items you buy (or even just scan in stores). It’s a little time consuming, especially if you choose to use Shopkick and walk around stores scanning all the listed items, but it can add up (it can also be an adventure for the little ones, like a scavenger hunt)!

Get acquainted with your local thrift stores. It’s not all 90s Mom Jeans and your grandma’s old floral dresses. A lot of people donate like-new, name brand items just because they’re out of season, don’t fit anymore, or because they’ve got a shopping addiction and not enough closet space. I’ve found my daughter brand new baby shoes, still in the plastic package with a $29.99 MSRP sticker on them for $1.99! Not to mention gently used toys, a ton of clothes, hand-sewn quilts, and some 25 cent DVDs.

Learn to sew. I’m not saying you need to become a seamstress and make all your family’s clothing, but basic knowledge of how to use a needle and thread can save a pair of pants or a favorite teddy.

Learn to cook like your grandma did. People in the old days tended to have bigger families and less disposable income, so they learned how to make the food budget stretch. Potatoes and beans are a Godsend when you’re broke, hungry, and not wanting to feed your kids Ramen noodles. Save leftovers from one night to be a part of the next night’s supper. Today’s baked chicken is tomorrow’s chicken pot pie. Today’s beef roast is tomorrow’s beef stew. Think of ways to make cheap meals seem fun. Your kids might be tired of sloppy joes, but have you tried making sloppy turnovers (i.e. sloppy joe meat and cheese put into a rolled out canned biscuit, folded over like an apple turnover, and baked)? Most importantly, remember that Grandma didn’t cater to everyone. You ate what was in front of you or you went hungry.

Invest in laying hens. If your space and city/county allows for it. It’s really not that expensive to get started and you’ll save a fortune on cage-free organic eggs. They’re pretty easy to take care of and they’re a great chore for little ones.

Start a garden and plant fruit trees and berry bushes. Again, if your space allows for it. It’s another good chore for little ones and you can also use the fertilizer from your chickens! You probably won’t make a huge dent in your grocery bill, but nothing tastes better than something you grow yourself.

Just give the dog scraps. I know people that refuse to ever let their dog taste table food, it’s Blue Buffalo or nothing. You’d be surprised how much your pets’ food can add up to. What’s the big deal of letting your dog have the food that your family didn’t finish? Pour a little hamburger grease on some cheap dry dog food and they’re in hog heaven!

Hunt. Or let your husband hunt. Whatever. It’s a hobby many love and a good deer will put a lot of meat on the table. Learn to process your own meat to save even more money.

Fish. It’s a great way to spend time with your family outdoors and it puts food on the table. Win-win. Even toddlers love to cast a line out.

Skip the expensive weekend activities. Laser tag, bowling, and movie theaters can be fun, but they’re not cheap. Try taking the kids to do fun (and sometimes free) things like going swimming at the lake, creek, river, or beach. Or take them fishing, as suggested above. Go on a hike or to the park. Go tubing (either on the river like we do down here, or on a snow covered hill like I hear they do up North, I guess it all depends on location and season), kayaking, or canoeing. Play games at home, have a family movie night with Netflix and Little Caesar’s five dollar pizzas (or a cheap frozen pizza, if you want to save even more) and snacks. Invest in outside toys (even a simple ball) so the kids can have fun at home and run their energy out.

Make the kids pick one extracurricular activity. Does Johnny really need to play basketball, baseball, football, soccer, and take karate lessons? And does Susie need to do ballet, gymnastics, cheerleading, softball, and take clarinet lessons? Think about all the money spent on fees, uniforms, and equipment. Now think of all the gas spent going to and from practices and games or recitals. I bet a lot of those evening when you’re running kids here and there, you also stop and get takeout, because who has the time or energy left to cook after all that? Bump each kid down to one or two after school activities. They’ll be fine. And if you’re extra lucky, they’ll pick the same one.

Skip going out on date night. I know. I know. You only get one day a month or year or whatever to go out with your husband kid-free, why waste it at home? Well, for starters, you’re already exhausted and going out is tiring. And the whole point is alone time with each other, right? So drop the kids of with Grandma and instead of going to a fancy restaurant, get some takeout and have a romantic candlelit dinner at home. Then snuggle up and watch a movie or do whatever else married couples like to do when there’s no kids around…

At home spa day and girls’ night in. Every mama needs to get pampered once in a while and have a night with her friends, but few of us non-trophy wives can afford such luxuries. Get some of your girls together and hit the beauty department at Walmart (don’t forget to use your apps!”) for some face masks, scrubs, lotions, nail polish, etc., then head over to the other side of the store for margarita mix and snacks. Put on a charcoal clay mask, get a little tipsy on homemade drinks, stuff your face with chips and salsa, and half-watch a chick flick while gossiping with the girls.

Wander around a discount store a few times a month. Places like TJ Maxx, Burlington, Ross, and Bealls Outlet can have some great things at even better prices, but their stock seems to change constantly, so you have to go often to see what they have.

Learn as many skills as you can. We already touched on this with sewing, but it’s good advice in general. Why pay somebody to do something that you can do yourself? A lot of things are way simpler to do than you would think. Before you hire a professional, try looking up the instructions on YouTube. You’d be surprised.

Cut the cable. An antenna can give you all the major networks (ABC, CBS, FOX, NBC, etc.) plus quite a few other channels for free! And if you have internet, you probably have Netflix and/or Hulu, so what are you really paying for with cable? A few extra channels or show? You need to decide if they’re worth the price tag.

Look into prepaid cell phones. My husband and I have StraightTalk. We spend $35 a month each for unlimited talk and text a 2G LTE (it’s still unlimited after that, but it slows down). We get the cheapest option because we have unlimited WiFi at home, so there’s no need for a lot of data on our phones (before we had WiFi, we used to get the $55 option that has unlimited high speed data). Yeah, we pay for our phones outright upfront, but when you do the math, we come out way ahead. We also don’t get the newest versions of phones right when they come out.

Do you really need that gym membership? How often do you go? What machines do you use most? Could a $100 treadmill and some weights in your garage accomplish the same thing? How about taking walks with the kids? An exercise video? Unless you’re super into fitness, the expensive membership and classes might be a waste.

MORE WILL BE ADDED TO THIS LIST SOON. I CAN ONLY WRITE DURING NAP TIME! COMMENT ANY TIPS YOU’D LIKE TO SEE ADDED TO THE LIST.

Irish Twins, part two

Mattie and Waylon hugging (3)

I made my very first post on here when I was pregnant with my second child, who was due before his big sister’s first birthday. Waylon ended up being two days late, making his grand appearance at 4:00 Labor Day morning, eight days before Mattie turned one year old. He is now seven months old, crawling, climbing, and trying desperately to stand on his own. He has eight teeth and eats everything in sight. He’s the happiest baby I’ve ever seen, always smiling and laughing, and he loves his big sister.

When Mattie first met him, she honestly couldn’t care less. She was tired and she just looked like, “This is why we left the house at two in the morning?” After she went home with my mother-in-law and got a good nap in, she came back ready to take on the title of Big Sister. She hugged and kissed him, and gently rubbed his head. When we came home a few days later, she always wanted to be touching him and she loved bringing me diapers or covering him up. She was so proud to be my Big Girl Helper.

She got jealous sometimes, and still does. She’s a Granny’s Girl and doesn’t like to share my mother-in-law with him. She’ll still get a little upset when he needs to be fed or calmed down while she’s wanting snuggles. But she loves him. Now that he has teeth, she shares all her food with him (and takes some of his too). She tries to hold his bottle for him when I’m busy (because even though she was on a sippy cup by this age, he still refuses to even hold his own bottle). She still brings me diapers when he needs changing (sometimes she’ll even pull out the back of his diaper to check if she think he stinks). They play blocks together and fight over random toys. They wrestle and fight and laugh. They pull each other’s hair. They make each other cry and then they try to comfort each other.

They’re a handful. I’m always tending to one or the other or both. Most of the time Waylon wants to stay up and nurse during Mattie’s one hour nap. Mattie has a habit of waking her brother up right after I’ve just gotten him to sleep. Somebody is usually crying or screaming about something. I’m constantly saying things like “Get off your brother! Don’t pull her hair! Everybody calm down!”

They’re a mess and Irish Twins definitely aren’t for everybody, but I wouldn’t have them any other way. They’re best friends and I can’t wait to watch them grow up together.

Keeping it in the Family…

…But not in an inbred way.

It has been a long, unintentional tradition for my family to just find another family and marry repeatedly amongst them. For example, my grandpa’s brother married my grandma’s sister, and my grandpa’s other brother married my grandma’s first cousin. The former of those unions led to my mama having double first cousins and their children being my double second cousins! Two of my mama’s sisters also married brothers, but neither marriage lasted long or resulted in children, so nobody cares. In high school I introduced my first cousin to my best friend’s sister and they had a baby, followed nine months by said friend’s oldest sister having a baby with another one of my first cousins. And then there’s the weird branch we’re working on now (and that I’ve contributed to): My double second cousin had a baby with a man that sadly passed away in a car accident when their son was less than a month old. She then found comfort with his brother and ended up marrying him about a year and a half ago (over four years after her son’s father’s death). They are yet to have a child of their own, but are trying and hopeful. She also has an older son with her ex-husband. Her ex-sister-in-law has a baby with her current husband’s first cousin (so basically both of her sons are related to that kid through their respective fathers). Then I married that man’s little brother (so my double second cousin’s husband’s first cousin) and we had a daughter and a son. My brother-in-law (that knocked up my cousin’s ex-sister-in-law) has also had an on-again-off-again relationship with another one of my double second cousins (a cousin to the other one I mentioned, not a sister, that’d just be weird, right?) and so far, although they’ve both proven to be super fertile, they haven’t produced any offspring together and they seem to be done with each other for good.

This would all seem pretty normal if we lived in a really small town, right? Well, this mess we’ve made spans over a few small cities and towns, three counties, and two states. Thousands upon thousands of potential partners and we still ended up with a twisted family tree. My cousin and I have even drawn out color coded charts to help keep it all straight and prevent future generations from accidentally ending up with a blood relation. It is a mess.

The basic point of this post, I guess, is that we’re not all inbred in the South, we just toe the line awfully close…