Tag: genetic disorders

About 1P36 Deletion- Why Do I Even Have To Know?
Health · Parenting · Uncategorized

About 1P36 Deletion- Why Do I Even Have To Know?

The Dream GirlLeave a comment

              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)

2. Seizures

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.

Living with Hashimotos
Health · Uncategorized

Living with Hashimotos

The Dream Girl4 Comments

Imagine the most exhausted you ever felt. Maybe you stayed up all night cramming for a test in college, or a state board test after finishing nursing/beauty/etc school. Now, imagine feeling that way despite sleeping for 10-12 hours a night. No matter what, you can’t shake the fatigue. Now you’re noticing bald spots forming and your hair is getting noticibly thinner. Suddenly, putting your hair up in a ponytail isn’t an option- a ponytail is the size of a normal person’s pigtail.You’re dealing with fatigue and hair thinning- now you’re emotions are falling apart. You keep feeling anger build up over nothing- now you’re crying because your dog barked wrong and you think he’s mad at you. You’re crying at the drop of a dime, your hair is falling out and you’re always tired. You think it must be that time of the month but just to be safe, you go to the doctor. They poke around and find a lump in your neck so they send you for a biopsy. The biopsy comes back negative for cancer, but an ultrasound shows it’s a cyst. You’re anxiety flares and you suddenly can’t sleep, you’re always cold and always shaky. You go for further tests only to find out it’s a large cyst inside your thyroid that is causing your thyroid to over produce TSH and it’s making you hyper- but at times it’s making you hypo. You set up your surgery to have the cyst removed and in that time are put on heart medication and two weeks before the surgery, you’re put on medication to kill your thyroid function- because having the surgery while hyper could throw you into a thyroid storm- where you go severely hyper and if it’s treated can lead to you dying.

By this time, you feel like a wreck, your life is a mess and you’re doing your best to hold everything together so it doesn’t cost you your job, family, life or anything else. You figure the surgery will fix everything.

You go in for the surgery and it’s an easy recovery and you’re quickly back at work. One day you wake up in a bad mood. After not shaking it, you just start crying for no reason then you’re shaky, hot, cold, hot, something sets you off so you start screaming and then fall into such a deep depression you start wondering if you should even be alive. That’s the point you decide to get help- they test your thyroid after finding out you have Hashimoto’s and thyroid surgery- sure enough, your TSH is off. They put you on medication and it works- you’re back to normal. That normal feels so good you forget everything else- until just a few months later, you’re right back to bad.

Keep going through that cycle- every few months, your thyroid is thrown off and they have to readjust your medication and that describes me for the past two years- just when I go back to normal, I get thrown off.

For me, it started with a positive pregnancy test. I set up the appointment to get my pregnancy confirmed with my OB and his nurse checked my neck. She found a lump so he sent me for a scan. The scan came back showing I had a nodule inside my thyroid so I had to have a biopsy- that came back inconclusive but the panic attack I had during the test (huge needle going at my neck) possibly changed his mind about redoing the test. I had to wait until the end of my pregnancy to be put on anything more than a heart medication to slow the palpatations down. In that time, my thyroid went from high to fine and back to hyper. I was dealing with severe (almost disabling) anxiety followed by severe depression swings. They held off on my surgery because I was breast feeding and they didn’t want to have to keep me from nursing for a little time. When my baby was around four months, we decided on the time of the surgery. I started a new job that had me working nine hour shifts and required one month notice for days I needed off. I naturally dried up working such long shifts (I was afraid of asking to pump but did manage to go home during some of my lunch breaks to nurse). One day, I got a reminder of an appointment with the man who was going to do my surgery so I figured I was going to get my appointment date and set up for surgery. When I was in the room during my appointment, the nurse came in and asked how I was feeling, then asked how I had been after my surgery. I told her I hadn’t had the surgery yet- I thought that appointment was to set up my surgery.

That day, I set up the surgery and a month later, I took a week off work to have it done. They put me on Levothyroxine 25mgs. At first, the 25 was fine but soon I went back to depression and anxiety swings. I ended up going to the ER, I was feeling so bad and they tested my thyroid- once again, I was hypo so they upped me to 50. I was fine for a bit, then one day at work, I was standing when I suddenly got really light headed. I tried to shake it off since I normally feel that way. My hearing faded- everything felt like it was distant, everything was getting dark and I developed tunnel vision. Suddenly, I felt a pain in the left side of my chest followed by my left arm going numb. I started feeling like someone set my left side on fire- it was so bad, I was sweating and in pain from the heat. My right side went cold- like, frozen cold. I was sweating profusely and so cold it was painful. By that time, I was slurring and had my husband come to pick me up. At the ER, they checked my heart rate for 10 seconds and told me it was an anxiety attack. They did check my thyroid levels, which once again, came back hypo. My thyroid was the only thing that came back bad and my doctor upped me to 75 (what I’ve been on for a year now)

I was told that episode sounded like a blood sugar seizure, and I’m no stranger to those symptoms when I need to eat but I know it wasn’t an anxiety attack. I was told that several months ago (and nearly a year after it happened and was dismissed by the ER staff, so they couldn’t test and confirm it)

It took them about 1-2 years to get my dose right for longer than 2-3 months, but lately my tests have been coming back in the normal range.

Hashimotos Thyroiditis is one of two autoimmune thyroid diseases, also the most common cause of Hypothyroid disease. Hypothyroidism is when your body produces too little of the thyroid stimulating hormone (TSH). It’s caused by an immune attack on your thyroid and the only way it will go away is either having your full thyroid (I only had half) removed or when it completely destroys your thyroid leaving it “nothing but a lump of scar tissue” (as per my thyroid surgeon).

It causes fatigue, depression (and anxiety- despite what some professionals say), it will cause fluxuations in your thyroid that go from hyper to hypo before you get stuck on hypo because it’s done so much damage, your thyroid can’t function properly. It causes hair loss, dry skin, constantly feeling cold, weight gain and difficulty losing weight. It also can throw people into early menopause. It can hurt fertility and unregulated, can cause thyroid issues if you’re pregnant.

It’s genetic, so if you have it (or any autoimmune disease) your kids are at higher risk of developing autoimmunity. It’s fairly commonly co-morbid with Celiac (you have over 50% likelihood of developing Celiac with Hashimotos and vice versa). It’s recommended to try the Autoimmune Paleo for 1-3 months, then add things back to see if any of those foods help or hurt- I haven’t tried that diet, but I have done elimination with gluten and dairy- both are problems for me personally so they’re both almost fully out of my diet (very low dairy and gluten free)

It can take you from healthy to severely sick until you get the diagnosis fairly quickly. My progression has been over the course of two years. My hair used to be normal but course. Now it dries like straw and if I move it, you can see my scalp. If I pull it back, it’s the same thickness as half a normal pigtail. I’m always tired. I have 2 kids, an Etsy shop (really, two shops) and a day job in retail- so some fatigue is normal, but there are times I’m useless after I get home from work. There are other times, I’m great but it’s taken them two years to get a dose high enough for me to function and I changed my diet. I’m currently eating gluten free, I’m weeding out dairy and am wanting to switch to a full Paleo diet since it’s recommended.

Health · Uncategorized

EDS, post 30 can your body bounce back?

The Dream GirlLeave a comment

I know your metabolism takes a slight hit at 30, larger hit at 35 and every 5 years or so keeps shrinking. I’m still heavier than I was pre-kids and reality is hitting me. I knew I no longer had my pre-baby body, but will I be able to go back?

I accepted the fact that pregnancy made my hips more of a problem area than they already were. I only wore a larger size (11-13 in high school) for that reason, but had an hourglass figure. When I dropped to a 14, I tried on some 17s and couldn’t get them past my hips. That was when I read that juniors and adult sizes are made different (1,3,5, etc are juniors. 2,4,6, etc are adult). Juniors are made narrow in the hips where adult jeans are made wider in the hips.

I do know that with Ehlers Danlos, collagen is affected and where it makes your skin stretchy, it seems it may be harder to just bounce back. My scars fade but they still look strange when they heal. I don’t know much else about EDS but I do have an appointment, not only with a genetic specialist, but a specialist who lives with EDS herself. But that’s in a little bit. Right now, I’ve been researching trying to find foods that can help, workouts good enough to help lose weight and tone up but also safe for Osteo and loose joints and anything else that could help me with shrinking back down.

In the past 2 years, I’m down from 220 to about 170. I’m down from a size 20 to a size 14-16. I still have 40lbs left and hoping to get down to a 6ish or 8, maybe and I have 5 years in my mind to do it. If I can get down to my goal, fix what I need to fix diet wise and perfect my ingredient reading I should be able to maintain despite my Hashimotos. I’m seeing that even thyroid isn’t as much of an excuse as people use it. I dropped 20lbs in 4 months on a good dose of thyroid medication and cutting 1 ingredient out. I’m almost 1 month back to the normal (gluten free) lifestyle and finally feeling back to how I was feeling. I just had my thyroid levels tested again and they were perfect.

Right now, I’m trying to buy less processed foods. I have quit drinking Mello Yello (but I did switch to Diet coke for the time being), I’m eating 1 grain meal a day (if that) and the rest are cooked or salad. I do need to cut condiments and I still am drinking my Starbucks double shots (1 a day), I also started to notice my sugar drops when I eat potatoes so I’m switching to sweet potatoes.

The problem is when you have multiple diagnosis’s with several recomendations for diets. Where I have obvious issues with gluten, gluten free is needed (unless I want to spend all day cramping and in the bathroom), I had the diabetic low glycemic diet recommended to me for the reactive hypoglycemia. Cutting everything that was recommended to me feels restrictive. It also makes my OCD mind feel like I’ll be depriving myself and feels like it’s a black/white situation instead of- eat this way and you’ll feel great, eat that way and feel like crap.

I’m working on disassociating food with pleasure or anything related to emotions and trying to associate it with fueling my body and nothing more. Mindfulness helps that. Taking time to savor what I eat and pay attention to it is what I’m working on. Salad tastes great, so does fruit. Sugar and snacks that are heavily processed taste like chemicals but are an addiction- I’ve read all about sugar addiction and cold turkey is the way to go with kicking it. I’ve been thinking about trying a 1 month sugar free diet to try to break it. Just not sure if I have the will power currently. I will start it at the beginning of a month this year, though. Just have to build up and do further research into it to go in armed instead of half assing it.

In my picture, I was 18. I was constantly working out but didn’t know half of what I know now. I was also healthy.

I wasn’t skinny, but I was a good 30lbs smaller than I am now.

We took my 2 year old to the ER a few weeks ago. 
Health · Parenting · Uncategorized

We took my 2 year old to the ER a few weeks ago. 

The Dream GirlLeave a comment

We were told to keep her away from dairy and her diarrhea (reason we took her) was likely caused by a virus. Well, we took her off dairy and her diarrhea cleared up. We reintroduced it many times and the very last time my mom attempted to give her cows milk, she spit it out and didn’t want to drink it. Each time it has given her diarrhea. It’s lasted way more than 10 days (did test positive for a virus- this specific one lasts 10 days and it’s been well over that and she still gets diarrhea when she eats yogurt, most cheese, ice cream or milk. She’s also developing a taste for my gluten free snacks instead of normal. I have read picky eating can be a sign of a food intolerance. We are pretty sure lactose intolerance (I am) because the diarrhea has been a recurrent issue her whole life. We have an order to have her tested for Celiac due to my medical issues, her sisters gene and her symptoms. 

If she isn’t able to to back to cows milk, it’ll be all three of us women in the house who don’t drink it. Her older sister could easily live without dairy and I’m lactose intolerant myself. 

This is a whole lot of fun going through the tests, dealing with the diaper and trying to figure all this stuff out. Even with the medical help, it is still too long a process. 

I spent 6 years searching for a diagnosis
Health · Parenting

I spent 6 years searching for a diagnosis

The Dream GirlLeave a comment

For my 6 year old. As of today, I officially have one. It was given first back when she was a tiny baby in the NICU but I went into denial.

She went through hell for over a year. She was in NICU for 8 months, had 4 surgeries (2 heart caths to close 2 an ASD and PDA, feeding tube placement and laser eye for ROP)

She came home on oxygen, heart monitor and with a feeding tube. She was born with 5 holes in her heart, unable to breathe without help, under 2lbs and 13 inches long.

She didn’t walk until shortly after her third birthday, didn’t talk for years and now only says a few words at once (has a speech impediment but is able to copy what we say, can read, and understands everything we say)

She still can’t jump off the ground, can’t walk unassisted down steps and is finally slightly able to step off the curb. She still can’t write but is starting to be able to give it a great effort and is in therapies multiple times a week both at school and outside of school.

She looks normal, when you hear her talk, she sounds special.

She’s sweet, kind, loving but has tantrums that can rival anyone else. She’s tiny, we have trouble getting her eating enough to gain.

We finally have a diagnosis. We finally know what’s wrong.

We don’t know how severe the outcome will be, but we do have a name. It’s a name I’ve been studying trying frantically to convince myself is not right. It is. Blood tests have proven it. I am, in a way, in a shock but really- I knew it and we were getting all the symptoms treated (it’s not a treatable condition) but I wish it was something she would just outgrow.

 

The name is 1P36 Deletion Syndrome. She has a lesser severe form. She has no seizures, no issues with her brain, her lifespan is normal, she has none of the facial features, but she has it. She’ll likely always be tiny, skinny and we have to have her heart monitored despite all holes closing up but I wish I never had a reason to have heard of this condition. I am still unsure how to feel.