A while back I submitted a “Share your story” post about losing my Cassandra to Pickle & Poppet. They submitted the post to “ABloggingGoodTime” and they selected it as their featured post this past week.
I’m finally going to commit to the 30-60 day Whole30 diet.
As of right now, even sticking with strict gluten free, I’m right back to feeling sick all the time. I’m not sure if it’s dairy or if there is something else I’m now sensitive to but the Whole30 is the best way to find out from what I can see.
I have failed multiple times, but I’m sure I should be able to commit to 1 simple month of whole foods. I have checked out so many recipes, it will just involve making my own birthday cake since my birthday is in January.
I just signed up for a holiday HIIT 3 days a week program. HIIT workouts have always been my favorites and with some really busy weeks, the 15-17 minute workouts should be feasible. My two year old has enjoyed joining me doing the Stronger workouts (livestrong website) and she’ll love joining these as well. I’m not trying to set any kind of New Years Resolutions, those are never kept, I just prefer starting things on the first of the month- it’s easier to track progress.
I have had a total of three pregnancies- my first ended at 28 weeks with a partial abruption and severe pre-eclampisa. She was only 1lb 11.5ozs and 13 inches long and spent a total of 8 1/2 months in NICU. She’s now a small but healthy 7 year old. My second was relatively uncomplicated but we lost her. She was born at 36 weeks due to me going into a painless labor and I wasn’t allowed by the doctors to go into labor. She died of a condition called Anencephaly (absence of the skull) and lived for 3 hours after birth.
My third was totally complication free and she was born at 37 weeks (once again, due to the complications of my oldest) and was 7lbs11ozs and 21 inches long- they told us she would have been a 9-10lb baby if she was born term.
I had each baby at 23, 25 and 27 years, I’m 30 now so I have spent almost my full adult life being called “mommy.”
I read all the books, blogs and joined all the support forums I could find. What to Expect was my bible through my first pregnancy and through her early years but nothing could prepare me for the almost 9 months of hell I was in for after having my baby.
When I was 22 and newly married, I found out I was pregnant. I was young, naive and even though I knew it was a huge sacrifice, I had a glorified image of pregnancy and motherhood. I knew it wouldn’t be a walk in the park and that I wouldn’t have near the freedom I had before but I still imagined taking the baby to baby and me classes, taking her out in cute little outfits with friends (since most of mine, at that time were also pregnant or new mommies) and late night cuddles. I thought of play dates and hanging out with friends would simply end up taking place at kid friendly places instead of bars. I had no idea what the dark side of pregnancy involved. I had heard of conditions like Pre-Eclampsia but the thought never crossed my mind that it could happen to me.
I decided to sit down and ask myself what 30 year old me wished 23, 25 and even 27 year old me knew. I was able to come up with a quick list of six major things I wish people had told me
- Take folic acid- lots of it. I didn’t realize how important it really was. I did make sure my pre-natals had it, but that was it. After dealing with Pre-E and losing another baby to Anencephaly, I joined a support group for people who lost babies to the disorder and that was when I read about folic acid and how vital it is to healthy pregnancies. I also learned about the MTHFR and after asking for a simple blood test, I found out I had a more severe form of the lesser mutation- which means my body only processes about 7% of the folic acid I eat.
- Swelling all over to the point where you do not look human IS NOT NORMAL. Don’t call Labor and delivery, go in to the ER to get checked- especially if swelling in the hands and face comes with headache and lightheaded or any other sign of high blood pressure. Pre-Eclampsia is serious, but can be managed if it’s caught early on.
- Lay off the baby books- especially if you have a preemie- seriously, cut it out. If your baby doesn’t develop by the books (either advanced or behind) they will stress you out more than help- it’s nice to know what “normal” development is, but if you start playing comparisons, it will make you lose your mind.
- Go ahead and complain about the morning sickness, crampy feelings, bloated feeling, headaches, mood swings, exhaustion and everything else- being pregnant sucks and it’s ok to not enjoy the symptoms- it’s the end result we all want.
- Do not freak out after being given the epidural. It doesn’t make all feeling go away- just the pain. With my first c section, they had to put me under as soon as she was out. I thought it was about to wear off in the middle of the c section. I always assumed that I would be totally numb and that I wouldn’t even feel the surgeon pull the baby out. My second two c sections went smoother because I knew what to expect.
- Enjoy the last little bit of freedom- the sleepless nights do not last long (be a few months, they WILL sleep through the night) but that small window of time in between feels like an eternity- and there will be times you will wake up freaked out in the middle of the night because your baby sighed and you thought they were choking- that is normal.
I wish I could go back in time, knowing what I know now, and possibly fix some of the things I feel I did wrong. Since I can’t change the past, I do try to share these tips when the topics come up. I’ll push the subject of folic acid or full body swelling when I’m talking to a friend who’s newly pregnant or trying to conceive. I have many other lessons I have learned in my 7 years of being mommy, but these stick out the most as the pieces of advice I wish I had listened to most.
Why Do I Even Know What 1P36 Deletion Syndrome Is?
I never thought we would be traveling down this path. I had severe Pre-Eclampsia at 28 weeks and had my baby weighing only 1lb 11.5ozs and 13 inches long. She was on a feeding tube, oxygen and heart monitor. She stayed in the NICU almost 9 months. She had Retinopathy of Prematurity (where her retinas were detaching from her eyeball) and required laser eye surgery. She also had five holes in her heart- PDA, ASD and three muscular VSDs. We had to have two of the holes (PDA and ASD) closed, luckily they were able to close them through a catherization instead of open heart. She also had feeding troubles after being on oxygen for so long, so the last of her surgeries was getting a g-tube placed in her stomach.
She came home at eight and a half months old still on a nasal cannula and heart monitor that beeped every time she kicked her feet. She also still had the development of a newborn since she had been lying in a crib most of her life. For the first few months of having her home, we had a home nurse come to the house daily to help us out. I was testing the day time nurses to see if I could seek employment again whhile they took care of her during the day. The first outing we had as a family resulted in her getting a cold. A simple cold shouldn’t be that bad, right? It wasn’t RSV or anything more than a simple cold- and it landed her back in the PICU and on life support so I knew we couldn’t place her in day care, the nursing fell through and I had to cancel it so I decided to stay home with her instead.
We were nervous for the first few months of taking her out of her crib too long, so we would keep her in the crib except during play time and feedings, baths and spending some time with her. I regret that to this day, but if her cannula came out of her nose for any length of time, she’d start turning blue. We finally figured out how to place her main oxygen tank so it could stretch all through the house and we were able to take her downstairs to be with us during the day, luckily that didn’t last long and around 15 months, she finally had strong enough lungs to get rid of the tube. By that time, she was finally starting to be able to lift her head and crawl during belly time. By three, she started walking without assistance but by that time, we had a misdiagnosis of Cerebral Palsy and she had started Pre-K. She had finished early intervention (birth to three in this state) and she loved Pre-School. Her first year, she didn’t talk and had to be carried. By the end of the year, she was walking holding the teacher’s hand and starting to say words. By four, she was walking on her own, by five she was walking and doing more talking. She started Kindergarten and entered a special class with an IEP. She had a tablet device to help her communicate. Now at seven, they’re putting her in second grade. She’s able to jump about an inch off the ground, walk up and down stairs, run slowly and speak in sentences (short sentences), her hole have fully closed up and she has a normal heart now. She still can’t write but she can read and is starting to be able to do basic math, she understands more than she’s able to communicate back to us.
So, what is 1P36 Deletion Syndrome?
The first chromosome is the largest chromosome. It may be the most important to development. It is separated into two parts (1P and 1Q) 1P is the shorter arm and 1Q is the longer arm. The whole chromosome contains about 249 million DNA base pairs. 1P36 Deletion syndrome is when a part of DNA is deleted from the 1P arm at the 36 base. My daughter’s particular is 1P36.12-1P36.22. Different areas cause different symptoms but the syndrome has some common symptoms-
1. Low muscle tone (hypotonia)
3. Growth and feeding issues
4. Developmental delays
5. Birth defects like cleft lip, pallet, heart defects or brain defects
6. Cardiomyopathy (enlarged heart)
7. Hearing loss
8. Vision problems
9. Thyroid problems (mainly hypo but this condition seems to put them at higher risk)
10. Behavior problems (self harm, throwing objects, hitting, melt downs, screaming etc)
Those are the more common problems. There are some that are more rare- early puberty, undecended testes in boys at birth, scoliosis, neuroblastoma (extremely rare)
Some of the other random common yet uncommon symptoms include shaking while excited and biting on their hands. My daughter has chew marks all over her hands, we try giving her chewies to use instead but she still has litte blisters. I thought it was anxiety for a long time, but learned it’s a symptom of the 1P36 Deletion Syndrome.
How common is 1P36 Deletion Syndrome and how does it happen?
It’s rare, but one of the more common genetic disorders. It affects 1 in 5-10,000. It’s not completely known how many since there are a lot of kids who go undiagnosed.
It can be passed down but it’s more common to be a random occurrence with no family history.
When it is genetic, the parents usually have what is called a balanced translocation. A balanced translocation is when part of the gene didn’t attach in the proper location and connected to a different gene. Since the gene is there, the carrier shows no symptoms and doesn’t have the syndrome- but they have a 50% chance of any offspring inheriting the deletion.
What’s the prognosis?
Most children with 1P live into adulthood and with symptoms controlled, can live average lifespans. Some of the complications can take their lives early, but the prognosis isn’t bad. Our geneticist told us our daughter has a 50/50 chance of needing a care taker or living a normal life. There isn’t enough known yet as to the full severity.
Our case isn’t as extreme as some of the cases I have run across in the forums and support groups I have joined, but it’s not the least extreme. She speaks in basic sentences and her speech seems to improve as her (normal developing) two year old sister’s does. She is fully potty trained, including at night but she has trouble tolerating loud noises and while her gross motor skills are improving, her fine motor still need to catch up. We lucked out and the majority of her problems seem to be physical,(not mental) she developed no brain bleeds or defects and doesn’t have seizures. She did have the heart defects, but they were easily fixable and she speaks more than a few words now. No two cases of any disorder will be the same. There are online support websites available, a yearly conference that is held in late July or early August. The conference for 2018 is from July 26-28 in Houston, Texas.
The major website is http://www.1p36dsa.org. They have resources, information about the disorder, information for families a store and opportunities to get involved in spreading awareness or just making donations. They are a nonprofit dedicated to education and awareness.
You put on a workout video. They have 2 types of people in the background- the ones doing the main moves and the ones doing the modifications for people who are new to working out or have various limitations.
You try the limitations. You start to feel and hear your shoulder or knee pop. Then you modify the modifications because you remmeber last time you did a major workout and threw your knee so badly out it took several hours for it to pop back in- by that time, you were in the waiting room at the ER because this time you couldn’t walk nor put pressure on your leg and it took your dad on one side and your husband on the other side to help you hobble out of the house and into the car, every pot hole and bump in the road sent a searing pain through your knee and you were crying- until it “magically” popped back into place and the pain was gone.
Most of the time, if you threw a joint out, it would pop right back in so that time stood out in your mind because of the pain. After that, you were nervous about working out again so you would do it sporadically.
Your history of c sections combined with diagnosis of Hashimotos mixed and you knew you needed to workout. When you met with the genetic specialist who gave you the EDS diagnosis, you asked her. She told you water aerobics and swimming- stuff easy on the joints but you have no access to a pool so you got stuck. That put you back on square one and back to the risky exercises.
I’m down 50lbs but about 20 was from being hyperthyroid right after my daughter was born. I went down from 220 to about 180, back up to 190 then from 190 to 170ish after getting my thyroid regulated post surgery and switching to the gluten/dairy free lifestyle. Now, I’m about 30 away so I need more than changing my diet. I prefer the Stronger workouts (livestrong) but I have to do the modifications and sit out from certain exercises- it still works pretty well since they are laid out.
Almost every day I feel run down.
No matter how much sleep I get, I can’t seem to feel rested. I feel drained all the time, my brain is so foggy I have officially quit joking about being an air head.
My mood swings from depressed to anxious- every time I start to think I have some mental illness, my labs come back.
The depression is deeper than I ever felt- as an outcast teenager, when I lost my grandma, lost my dog or lost my child- I had situational depression all those times- never this deep. This depression is unrelenting and feels like I’ll never be able to get up. It makes me feel like no one cares, that I have no one- my kids would be better off and so would my husband and my parents- it makes me feel like I just need to isolate myself. Every time I start to ask my doctor for help- I get my lab results.
I feel nauseated, my stomach bloats out, I have to run back and forth to the bathroom- or I get the opposite.
My palms start burning to the point I can feel the heat radiate, or the opposite and even at 90 degrees, I’m shivering.No amount of blankets can help me warm up and no stripping of layers helps me cool. Heat is worse- it makes me overheat to the point I’ll start to feel like i have heat exhaustion. I have got heat sick just from hot flashes.
I don’t know what’s worse- the crying spells from the depression, the panic attacks from the anxiety that come on with 0 warning, the fatigue that NOTHING helps, the digestive symptoms, mood swings or the fact that people look at me like I’m faking it all. The fact that it’s an invisible illness that makes me feel all this.
It’s never going to go away but you can’t see it. You don’t see my mood swings- until the symptoms get severe- I’ve been learning to hide them.
You don’t see the cold or hot flashes- unless I start sweating
You don’t see the depression, anxiety or the nausea but it’s there. It’s real and I’m ready to give it up. I don’t want Hashimotos anymore. I don’t want to keep having to feel this way in between dosage adjustments. They started me at 25, I’m now up to 88 and my appointment is next week- I’m in full swing and can tell my levels are off. I was going to go to the ER, but there is no use- ERs can’t handle chronic- they treat temporary problems. I really wish I could figure out how to deal while I’m in between doses because this isn’t living.
She was 8 months old, development of a newborn and was still tiny. She was on oxygen, feeding tube and heart monitor.
I tried taking her out of the crib a few times but we had to switch at first from the major oxygen machine (plugged in to the wall) and switch to a small portable tank- that only lasted a few hours. There were a few times the cannula came out and she turned blue so fast it had us terrified. There was also a time we had an emergency situation and had to take her to the hospital- and all the tanks that were newly delivered to us read empty, except one that had one hour left. Luckily, they were able to switch her to a tank when she went into the room in the ER and kept her on it when they admitted her to the PICU (she got a cold and her lungs were too weak to handle it.)
For months, we were so afraid of her blue spells or something happening to her oxygen, we kept her in the crib for most of the day. I finally figured out where to put her big tank in the upstairs hallway that would allow the tube to stretch downstairs and to her bed- as soon as we figured that out, she was only in the crib when she was sleeping.
To this day, she has some strange attachment issues and I feel like her long stay in the NICU followed by our paranoia has something to do with it. I still feel somewhat guilty.
I’ve been thinking back to her babyhood. Aside from the oxygen, she and her sister looked almost identical- to the point my older daughter has gotten their baby pictures mixed up a few times. I still wonder if I had gotten her out of her crib more, would she still be so far behind? She’s playing catch up a lot more now since she has a very talkative sister. Her sister talking is improving her speech (she said the sentence “mommy has to go to work tomorrow” earlier today and she usually says shorter sentences- every sentence she says that has more than 2 or 3 words feels like progress since the condition she has typically comes with only being able to say 1 or 2 words period). She has the genetic disorder on top of being preemie, so I doubt that us keeping her in the crib for the first few weeks(if we weren’t cuddling her in the bedroom) had any affect on her.
I also remember the string of home health care nurses that came and went the first few months and the help my mom gave us because we were 20 and 22 and having a special needs child was overwhelming.
I remember her first cold- the night that landed her in the PICU and the first time she ended up with impacted bowels (she’s now on Miralax and has been hospitalized another time and had to be flushed 2 other times in the ER)
I remember struggling in the NICU to pump, the nicknames they gave me (they called me Bessie because at one point I had the deep freezer, 2 normal sized freezers, their fridge space and my fridge space filled totally to overflowing with pumped milk). I remember the frusteration near the end at pumping- getting a grand total of 2ozs over 30 minutes- then spilling it. I remember the day I finished pumping and dried up, the nurse went out and bought me an energy drink to “celebrate” having my body back.
I remember the nights going to bed alone after chatting with my husband online because I was staying in a Ronald McDonald House out of state while he was home working.
I remember meeting parents who would come in for a few weeks, then leave when their babies got released and it felt like our time would never come.
I remember the day- December 1, 2011- the day we strapped our daughter in her car seat and drove the 3 hours to finally take her home for the first time.
I remember cuddling with her when we finally got her oxygen cannula taken and could see her beautiful face
Now, she’s healthy but still has to see quite a few specialists. She’s reading on her own- even will grab cereal boxes and read those. She loves shopping, shopkins, pink and pretty much all things girly- just like her little sister. When I buy stuff for them- I get the pink for her sister and purple or blue for her. She has different favorite colors on a regular basis and she loves Pete the Cat books, she won a giant Maisey Mouse from a library program/contest last year and the giant mouse is sitting in her bedroom at grandma and grandpa’s house.
Her birth and early life has given me a totally different perspective on raising kids and motherhood in general. She and I both almost died, so even when I’m mad or annoyed- when she is screaming or throwing a fit or in my face not letting me breathe on my own, I still am beyond thankful I have her in my life- that her condition has no actual affect on her lifespan and she’ll likely live the same amount of time a healthy person would.
When she was 15 months, off all the tubes and getting more and mroe stable, we decided to finish our family (only wanted two). I got pregnant fast but sadly, she had a different condition and it took her life at 3 hours. We gave up and decided she would be an only child. She started school and I stayed home for another year- then we decided that if I found a job, we were done and there would be no more kids. If I got pregnant, I’d continue staying home for a few more years. They happened almost at exactly the same time. I finally got my first job after staying home for four years and I got pregnant- found out about 2 weeks into the new job. This one was a happy, healthy baby- and our last. After she was born, I had my tubes tied.
I’ve been through it all- loss, complications and healthy and I am so grateful to have both my living girls in my life.
I was always beyond disgusted about the whole concept. I still can’t say p**p without gagging but my 7 year old was born and we began a battle around a year with constipation. She’ll get so backed up at times, she has been hospitalized. There are times she’ll be so constipated, she’ll cry while doing it. Now, even though we do have medication help (Miralax), she is able to without the tears- and she’s now going on her own without prompting. That itself seems to be an accomplishment since I’ve seen quite a few kids with her condition who aren’t potty trained at all.
My youngest is the opposite, any animal cheese or milk and she’ll have diarrhea. We are finally getting the hang of her (more expensive) diet, and it’s paying off. She’ is now having more solid and less runny blow outs.
If you had told me when I was 20 that in 10 years, I would be monitoring and discussing poop with anyone (doctors etc), I’d have said you were out of your mind. I guess having kids changes things. I still almost puke when I smell vomit, but I can clean it up and deal with (kids) puking on me. I also can change a diaper (lost a job because I couldn’t change diapers- well, wouldn’t) and my oldest was my first diaper changing experience (and how I learned that boys aren’t the only ones who can pee straight up in the air…)
Since I’ll have a full week off, I have decided that the month of June I am going to try to do one post a day and come up with either 1 post or one article to submit to a magazine or blog every day through June.
Coming up with ideas shouldn’t be too difficult.
I have 11 more days in this month and I’ll be brainstorming topics (privately) and I’ll try to come up with 30 varied posts.
It was my first ultrasound since my surgery 2 years ago.
I found out the cysts on my right side (only side I have left) haven’t grown, so I don’t need to have another scan for about 2 years but I had my lab work done and they had to up my dose.
It seems every 3 months, I go hypo but this time I didn’t get such extreme symptoms.
I have been really tired and a little grumpy but I figured it was stress and the hours I’ve been working. Starting my days around 6am and ending around 11pm tends to wear anyone down over time and it’s my normal.
I also have been slowly gaining weight, after losing 20lbs, I’m up 9 and I’m not eating any different (I’ve been gluten free since July of last year, stopped November and December and restarted in January and have been strict since)
I have been waiting for the “right” time to go fully dairy free as well, that will help bloating but I can’t explain the weight gain and weight loss- both happen with me not doing anything different.
I guess when I’m in a bad mood, tired or even gain 1lb I can count that as my thyroid. I have started to notice that I only really have anxiety attacks when my thyroid is off so I guess that’s a good indicator and it helps me knowing that my anxiety seems to solely be linked to my thyroid. Maybe if they could get that under control, it will help that issue.
I usually have more extreme symptoms, but I guess since they caught me when I was slightly elevated as opposed to a major elevation, the symptoms didn’t have time to come on as bad.
Either way, you’d think after 2 years, they would have me straight by now… This is getting frustrating. I have gone from 25 to 50, 75 and now I’m at 88. I guess my next step will be 100.