I am working on putting together brief overviews about the different Fragile X Associated Disorders - and this is the second (behind the Fragile X Syndrome page I have up). You can find this post as well under the tab at the top labeled FXPOI. Much of this is simplified to make it easier to understand, and while I got my information from Fragile X websites - it should not be taken as medical advice.
Fragile X Associated Primary Ovarian Insufficiency, or FXPOI is a condition in which the ovaries stop functioning normally in a woman younger than age 40. Common symptoms of POI include absent or irregular periods and infertility. POI is not menopause. Women with FXPOI may develop symptoms similar to those of menopause such as hot flashes and vaginal dryness, but it differs from menopause in some important ways.
Women with POI are still able to get pregnant in some cases because their ovaries may release viable eggs now and then.
Women with POI can experience a return of menstrual periods
Some women will become pregnant years after an initial diagnosis.
Approximately 20%-28% of women that are carriers of FXS experience FXPOI and another 23% experience early menopause. That means that as a carrier, you have about a 50% chance of menopause occurring before age 45.
ALL women that are carriers of FXS have some decrease in ovarian function (decreased fertility), and some are at risk for anxiety and depression as well. It must be noted though, that many women with premutations are able to conceive and you should not assume decreased fertility. The decreased fertility is related to increased levels of some hormones, particularly FSH and a decreased length of a phase in the menstrual cycle called the follicular phase. The current recommendation for women with the premutation is to have FSH levels evaluated and monitored throughout their childbearing years.
If you have POI and no known history of Fragile X, you have about a 1/50 chance of being a premutation carriers. For women with POI and a family history of relatives with POI, you have about a 1/15 chance of carrying the premutation and have a significant risk of having a child with FXS as well. Testing for Fragile X is highly recommended.
This is a fantastic PDF about POI, though it doesn't refer to Fragile X at all. It contains a lot of basic information about how menstrual cycles work and what kind of tests should be run to determine POI as well as information on the different treatments.
If you are a FXS carrier, even without POI you should begin taking at least 1500mg of elemental calcium (make sure you check the label to be sure as most supplements total is not just elemental calcium). For those with POI on a hormone replacement therapy, you should be taking at least 1000mg of elemental calcium split into doses of 600mg at a time as that is all the body can absorb at once. Also be sure you are getting a decent amount of vitamin D as it helps to absorb calcium. Calcium is such an important thing for women, but especially for FXS carriers as we are at higher risk for osteoporosis as well.
Back to our normal grind here with some more promising new medication to help out FXS kiddos (and adults). This one is a little different than our clinical trial drugs though as the medication I am covering today is already FDA approved!
Many of you may have heard of minocycline, a drug used to treat bacterial infections including acne. If you haven't heard of minocycline, you most likely will have heard of tetracycline (though maybe not by name). Tetracycline was used for a while as a "safe" antibiotic for pregnant women but was later found to permanently stain the baby's teeth.
So, how does Minocycline connect with FXS? Many families whose children are on minocycline are showing improvements in behavior, attention levels, and most importantly language!
It all started with a mouse. See, a fragile x knockout mouse was given minocycline for three weeks starting at birth and researchers found that the synaptic connections were normalized. Normally in FXS, those synaptic connections are weak which is thought to be the cause of intellectual disability and autism. The minocycline treatment in the mouse reversed that and also showed good effects on cognition and learning tasks as well. After the study was published, many parents wanted their FXS children to try minocycline and a good amount of doctors decided to prescribe it to see what happened.
The amount of FXSers on this, prompted a survey to parents in which a whopping 54% were reporting improvements in language, 50% reported improved attention span, 44% noticed improved social communication, and 30% noticed a lessening of anxiety levels.
All these promising survey results resulted in a controlled study of minocycline in FXS patients and is currently underway. I've spoken to many parents whose children are on minocycline and showed improvement very quickly (within a few weeks, actually). As with any medicine, there are those FXSers who don't respond as well as others, but from the studies and reports I have heard those numbers are fairly small.
I think the most promising thing to me is seeing that there are medications out there now that are proving to treat some of the symptoms of FXS, and that is excellent to hear.
One of my biggest pet peeves is when someone says to me (or Mr Awesome) "You are SO LUCKY to be able to stay home with your kids". Usually I just smile and nod, but it really gets to me.
See, luck has nothing to do with me staying home with the boys. It was a conscience decision made my Mr Awesome and I when I was pregnant with Ayden. We worked out the numbers of daycare versus me staying home and decided we could do it. At the time the decision was made, we essentially cut our income in half. It wasn't easy, especially for the two of us who are big spenders and big givers, but we made (and continue to make) the necessary sacrifices to make it happen. We both agree that it is better for the kids and very much worth it to be raising our kids ourselves.
Some of those sacrifices are certainly not easy. We don't have cable tv, we don't go out to eat for dinners, we rarely have a "date night" or go to the movies. We survive with a single vehicle and make the best out of free or very cheap things to do in our area. We don't have new furniture and still use many of the dishes from my "first apartment" stash. We don't go hang out with our friends at the bar, or travel like many other couples our age do. Normally our "hanging out" tends to be at our house or our friends' house - though definitely more at ours because it is easier with Ayden.
Speaking of Ayden, I can't imagine where he would be if he had been in daycare. Heck, I'm not sure many day cares would have taken him at 18 months, I know I was pulling out my hair and I am his mom! It worked out for the best that I was able to work with his therapists and then work with him on things they instructed me when they weren't around. The 1-on-1 care and therapy he received from me and his therapists was just invaluable when it comes down to it, and certainly not something that would have been as effective if I was working all day then coming home and doing it - Ayden's worst time of the day still is between 5 and 7 pm!
We lived for a few years under an on-call schedule for Sherief that more often than not consisted of us having delayed or ruined plans and at least 2-3 times a week we would receive middle of the night "emergency" phone calls. During those years, it was rare that we all sat down to dinner together or really had much free time at all, but the company Mr Awesome was with took care of us, and we will be forever grateful for that. At the point it became too much, Mr Awesome took a large pay cut to begin work at a more stable work place. The new place, where he continues to work now, offers a lot more advancement opportunities as well as being more stable - so in the end, we made a decision that was difficult at the time but a good step towards where we planned to be in the future.
Of course there are other things we sacrificed, but this is just a small taste of it. I look at those people who say to me that we are so lucky, and can be jealous of their new cars, leather furniture, huge houses, and being able to go to movies and out to eat every week but instead choose to cuddle with the boys as they watch tv in the morning, read books to them, or sing songs with them and dance. I am there when they get up in the morning and when they go down for naps in the afternoon. I have never missed a milestone with either of the boys and was even able to video tape Issac's first time crawling to share with family. I know being a stay-at-home mom isn't for everyone and I certainly don't think less of anyone for working and putting their children in daycare. I just know that this is where I am meant to be, and raising my children is what I'm meant to be doing right now and worth every single sacrifice we make. All those things I listed above, they're just things, but the time I am spending with the boys right now is something I'll never be able to do again, and something I'll treasure for the rest of my life.
When I was pregnant with Ayden, like so many other mothers I joined Baby Center and found my way to the July 2007 Birth Club. (For those of you keeping track, that would have been in November 2006.) After the birth of our babies in 2007, a good amount of those moms moved on never to be heard from again. But there was a group of about 15 of us that found a new home and continued to talk and share as well as get support and advice from basic things related to feeding our babies to venting about our spouse/significant other. Along the way we've lost a few due to differing personalities or not having time, welcomed a second generation of babies (and soon to be third!), supported each other through miscarriages and divorce, as well as said goodbye to one of the July babies who was tragically taken from us. Even with our busy lives, we still find time to chat on our board or text each other most every day. These ladies have been the best "girl" friends I have ever had, even though I've only actually met two of them. They have been around through most of the important events in my life, and I imagine all of the ones going forward. I am so thankful for each and every one of them.
But today, I want to share about just one of them. One of them that took something awful, and turned it into something beautiful. A mere hour after making this post to my blog, I received this message in the comments:
Cortney,
I'm so sorry that this happened to you and Ayden. It's horrible and awful that someone would abuse his child's disability to scam other parents who need this kind of technology to help their children.
Ayden will be receiving his very own ipad in the mail in less than two weeks. He deserves this. He's such a sweet little boy and even though I've only met him twice I know how much this will help him and really make his day. I'll forward you the shipping details as soon as I have them, but as of right now Apple's saying July 21-25.
Love you!
W
Wednesday, we received Ayden's iPad in the mail. It was packaged in a brown box, that enclosed the actual iPad box. As I was opening the box, both of the boys were by my side. They love packages, so it wasn't surprising. As I pulled the iPad box out, Ayden began squealing in delight and saying "birds, birds, birds" over and over again complete with jumping around and flapping his hands. He couldn't even slow down to help take the iPad out of the box! It took about 15-20 minutes to hook it up to my computer, get registered, and of course put Angry Birds on. For the entirety of the time I was doing this, Ayden was standing next to me squealing and flapping away. (if you know Ayden, you can picture exactly what he was doing - just about 10 times faster and louder than normal). He was allowed to "free play" for quite a while since it was new for him, but still burst into uncontrollable sobbing, whining, and screaming after we told him time was up. I put the iPad on the charger and every time I walked close to it for the rest of the day he would run up behind me excited again - only to flail and sob some more when I walked by it instead of handing it to him. He was being a pretty big monster, but I only tell you this so you can begin to understand how much he loves his iPad.
After Ayden went to bed, I was able to get the app Grace setup for PECS. It's not the app we want to use for him, but we received this one for free on Autism Awareness Day and the best one (Proloque2go) has a pretty steep price tag of $189. For now, this will work. It is missing a few features I would like, most importantly speaking the sentence or words when and after they are chosen. That reinforcement is pretty key, especially for Ayden, and Grace lacks any kind of audio.
I had my first chance to start working with Ayden on Grace the next morning. He very much is against it right now because he just wants to play his games! I taught him how to ask for Angry Birds on the iPad, and then he got to play for a bit - we then did it again and followed this pattern for a while. He's starting to get it, but it will take some time. Meanwhile, he gets to work on those fine motor skills and turn taking with puzzles and memory games. When I let him "free play" again, he started exploring all the other apps I have setup for him, so hopefully he starts using it for more than just Angry Birds (or killing Zombies) during his free time. Twenty-four hours after putting it in his hands for the first time, he has already completed some small sentences and is continually working on using his finger instead of his thumb. It is so amazing the improvements in such a small amount of time. I can't wait to see how much better he gets going forward, and for that - there is only one person to thank.
And for you, Wendy....I don't know if I can ever really explain how much this means to me, but thank you so much again. I have told you this before, but want to say it publicly as well. You are quite possibly one of the most unselfish, giving people I have ever known and I have no idea how I can every convey my gratitude to you. I love that you are so generous and willing to help and I am so thankful that you even thought to do this. Anyone that cares so much about Ayden has and will always have a very special place in my heart. Every rude look, every person staring as Ayden has a public meltdown, every bit of unsolicited advice - those things make the people that support us and him so much more important. It's you and others like you that help me make it through bad days. It;s knowing we have the support and love of so many amazing people like yourself that makes me confident we can overcome any obstacle that is put in front of us.
Here are some of the pictures I took of Ayden after I put his iPad in his hands for the first time. Unfortunately none of them show the level of excitement he actually had because he was much too busy concentrating on playing Angry Birds.
Today is Fragile X Awareness Day 2011! I hope that you have taken the time to read my posts over the past few weeks about Fragile X. If not, you should do it now. (hint hint)
I have a couple more things to add for those of you related to me on my father's side. (The Masters')
It is in our family.
There are 6 boys and 1 girl with the full mutation not to mention at least 11 carriers spread through 5 generations; though I expect that number is closer to 20.
If your grandfather or grandmother was diagnosed with Parkinson’s there’s a chance that it is (or was) Fragile X Associated Tremor/Ataxia Syndrome or FXTAS and you should be tested.
If someone in your family has been diagnosed with Fibromyalsia, there is a good chance it is also related to Fragile X and you should be tested.
You and your children should be tested even if your kids don’t show any symptoms.
You don’t want to wait until it shows up in your grandkids or great grandkids, it will rip your heart out.
Thank you Melissa, for letting me use some of your fantastic blog post
Now that you know a little more about Fragile X then you did before, today I want to share what you can do to help.
Support research and government funding. Researchers are learning new things about FXS and related disorders all the time, but as with every disorder those researchers need funds to help well, research. Research that isn't a cure, but it can help our kids live better lives. The great part about FXS research, is it's also helping scientists and doctors to learn more about other neuro-degenerative disorders such as Parkinson's, Alzheimer's, and Huntington's. One of the things I think is particularly interesting is that this research has helped determine that one gene controls so many different things where before it was believed that one gene had one particular function. If you feel compelled to support the FX research you can either donate, or just reach out to your congressman/woman or senator. You can find out about exactly how you can help here: NFXF Legislative Action Center
Support parents and caregivers. Offering to watch the kids, calling to see how the parents are doing, asking if you can help, and really just listening are great things. Most of us parents won't approach you with these things, it's a huge burden to bear and often times we just don't want to lay that on anyone else.
Learn more about Fragile X. If you know an affected child, you more than likely know an affected parent as well and maybe even a grandparent. The more you know, the more you can help, and the more support you can offer. Check out the links on the side of my blog for more information as well as the About FXS and FX Associated Disorders sections of this blog. Also visiting the different blogs in the Fragile X Webring (located in the side bar of my blog as well) may give you a good insight into FX Families' day to day lives.
Educate others. Tell others about FXS, spend time with your own children teaching them how to be kind and accepting of kids who are different. Each person
Don't be afraid to ask questions. If you don't understand, ask. Most parents are more than willing to answer any questions you may have and will not be offended or hurt. I can guarantee that answering questions is much easier on us then being ignored or hearing ignorant comments. Just remember to think before you speak, there is always a "nice" way to ask a question that isn't "Will your kid ever be normal".
Today is also a very special day for me besides being Fragile X Awareness Day. Today is Mr Awesome and my 5th wedding anniversary and I couldn't leave this blog post without mentioning the event that started it all. Without an us, there would be no Ayden. I'm thankful every day to have this special man in my life and my two (soon to be three!) children. He is the best father, friend, and husband I could have ever hoped for and I love him more each day. I am so lucky and blessed to have him and my children in my life. Love you, Crazy.
