Day 3 of our new beginning

So it's only day 3 of what I call F's fresh start. It sucks. She has already endured 3 hours of hard core muscle building physical therapy. Most adults would be crying especially when their weak bodies have never done anything like it before.

Her therapist (Mr. Andrew) is amazing with her. He tries to make things fun and changes this up often to keep her interest. My little girl will actually hold his hand and walk away from mommy with him. She obviously feels safe and comfortable with him which helps so much.

Our first day went pretty easily. She didn't cry, she tries everything he asked of her. She even laughed. The next day my poor girl woke up stiff and wanted to snuggle all morning. Today was a little more strenuous. She cried, asked for hugs, said she was all done so we would stop. It broke my heart.

Some of the things she does there is try and kick balls into nets hard to use her muscles but shes unsteady and seems nervous about having to bear all her weight on one leg. She gets on a trampoline holding medicine balls (weighted balls) and uses her legs to bounce. She walks along carrying those weighted balls and throws them, catches, walks, throws. She sits on those huge yoga balls and Mr. Andrew moves it all over tilting her around back to front, side to side so she is forced to use her hips and core to balance and not fall off. Those are just a few of the things my baby has to do. It's hard for her. Remember, she has very low muscle tone and extremely loose joints. Just walking takes 3 times the energy and effort as the average child. Throw in some weights to carry and it's so hard on her little body. She does it though. I couldn't be more proud of her.

We went home and had a snack, took a nap. Normally my little lady is a 3 hour napper but today she woke up
After only an hour just wimpering, sweating, crying saying no no no, I'm sorry and wanted to be rubbed all over. This continued for 2 hours until I brought her to my mom. She loves to lay in my parents bed and watch animals on their big TV. She stayed in that bed for almost 4 hours. She just laid there. She walked for a few minutes to go see Papa in his study but other than that she just wanted to rest.

Afterwards a nice hot bath and some Motrin, a snack and movie snuggling mommy in bed. Hopefully she rests well because I know tomorrow is going to suck for her. Recall back to the morning after some of your most grueling workouts. Yup now picture that and try and comfort and explain it to a 2 year old.

It's heart breaking but so important to her physical well being to push through these first hard few weeks. Eventually she will get used to it like we all do. Until then, it's lots of rest and snuggles and keep repeating it.

I wish I could do it for her. She's such a brave little girl.

The first day of the rest of our lives

Since F's diagnosis, I have not been able to sleep. All I can do is scour the Internet for information, email specialists in the field of connective tissue disorders, contact networks and foundations for as much information as I can get my hands on. I mean, that's what a mother should do right?

My head is reeling! Chiari Malformation, what???? A side effect that many with Ehlers Danlos Syndrome develop. No one told me this! Dysautonomia? Ugh really? There is such a thing as too much information. I'm overwhelmed and over stressed to say the least. My husband keeps saying "what? Really? Why? When? How?". "Can I sell a kidney?". He's overwhelmed with all of this new information just as I am. It's to be expected. She's our baby. We don't want to think of any of these things happening to her. I mean seriously, we have enough to deal with right now. I just keep telling myself, the more information the better. It hurts, it's frightening but at least we know what to watch out for. If she starts complaining of terrible headaches or pressure then we haul ass to get her a MRI instead of not knowing and it being too late. Better to be over prepared then it is to be ignorant to it and getting blindsided.

Seriously though, when are we going to be able to sleep again? When are we going to be able to not stress and worry about every single aspect of our lives, most importantly about her life? We won't. This is our new life.

Tomorrow (rather today if you wish since it's after midnight) is the first day of the rest of our lives. Day one on our road to help F. Her treatment plan or "prevention" plan as you will since there really isn't a treatment, starts at 3:00pm. Beginning with day one of intensive therapy. I'm not sure I'm mentally prepared. I'm nervous, will she be scared? Will she be in pain? Will she hurt tomorrow night after this all? I don't know what to Expect and we get to do this 3 times a week indefinitely. That's not including everything else we have to squeeze in for her all week. Every week.

This is my new job. Being a stay a home mom for the last two years has been a great job but I literally mean this will be work. I don't care how long it takes or how exhausting it is or if we have to live in a card board box down by the river in order to pay for it all. I'll do it without a moments thought. F deserves us to push and fight to give her the best chance at an active, happy, pain free life. There are no things or vacations worth more than our daughter's well being and happiness. She is our joy, our love and our life.

When diagnosis rocks your world

I haven't been able to blog for a little while due to circumstances beyond my control. With the holidays rapidly coming and going along with all the crafty goodness that I had to attend to it was a stretch. Then there was F. Some of you may know that we have struggled for quite some time with her mobility. We finally have complete pieces to the puzzle that was such a mystery to us.

It started when she was born prematurely. She was quite healthy for an early birth minus some jaundice but otherwise she was complication free. To see her as a newborn you wouldn't have a clue that anything was wrong. None of her physician's picked up on anything. As a newborn she was diagnosed that she had acid reflux, easy no big deal and it resolved when she could sit up on her own. She was diagnosed with Torticollis, again, easy no big deal some adjustments here and there and she was fine after a couple of months. Other than those 2 little bumps in the road, the first year of her life was pretty uneventful. She was speaking early and very well at that. Her Fine Motor skills were impeccable. She could pincher grasp grains of rice at 9 months old. However, her gross motor skills were quite lacking. Her pediatricians brushed it off saying that not all children excel at all areas and she may just be slower on her mobility than she was with everything else. Just give it time.

That was not a reasonable answer for me. I knew in my gut something was not right. I had written previously in October 2011 how we finally had a diagnosis. Well I was wrong. Apparently, so were they. Here is that previous post that fills you in a bit more on what has been going on. go ahead. click it and read it. I'll wait....

A Diagnosis and Lesson in Bravery from a 2 year old.

well that is where we were as of October. I wasn't prepared for this next whirlwind but deep down inside, I knew something far greater was going on. I just didn't really prepare myself or at least admit to myself that something was wrong.

We got the new AFO's which opened up a whole host of new issues. She started walking with her feet turned in, her hips started clicking terribly when you held her. You could feel all of her joints when you touch them click and rub and make actual sounds. It was frightening. I honestly was constantly saying to myself Oh My God what is happening. F started complaining about having boo boo knees and asking for someone to rub her legs or her back. She started getting horrendous nose bleeds at night and bruising on her legs very easily and deeply.

We took her back to the Doctor's office and they cauterized her nose for bleeding, referred us back to the Orthopedic Surgeon at Children's Hospital where we learned that we needed to see a Genetic Specialist. Something greater was going on here than just loose joints. Through a gamet of testing all of which my brave little girl, never cried or showed fear. At the most she would quietly say, OUCH. With Xrays and blood work, echocardiograms and all the things that run in between, we had an answer. Not one that we were prepared for in the slightest. We waited, held our breath and hoped to god everything was going to be ok..............It's not.

My beautiful, perfect little princess was diagnosed with a Rare Genetic Disorder. She has Ehlers Danlos Syndrome. It's a rare connective tissue disorder that affects your joints and blood vessels. There are defects in the genes responsible for the production of collagen. It can be fatal in some cases due to the hugely increased risk for Artery rupture, intestinal rupture, heart abnormalities etc. The list goes on an on. However, for F. It looks like only her small blood vessels are involved. Meaning little ones in the nose, on the skin surface that is responsible for bruising. Her heart is in perfect condition so at least that is HOPEFULLY one less worry we will have.

Another issue with EDS, is that children and adults alike with this syndrome can develop a whole host of MAST Cell syndromes. One specifically POTS which can cause increased pressure on the brain as one of the side effects of this condition. We will monitor her closely for head growth and vision issues but again, right now she is ok in this area.

Our main point of contention with this disorder is her joints. She has Hypotonia (very low muscle tone) and Severe Hypermobility and flexibility of the joints. If you take her little wrist, you can actually twist it almost completly in 360 degrees, sort of like you were wringing out a wet towel. Her hips click and are floppy, her knees and elbows bend in the opposite direction at times and her ankles buckle under the weight of her little body. All of these issues cause her to have a lot of mobility delays. She walks, unsteadily. Better with her braces but still falls. She can not run, jump, skip, hop or stand or flex on her toes. She most likely won't. She won't play any sports that require any sort of contact with other people or running. She will have to have a lot of assistance in school physically because simply holding a pencil for an 8 hour school day will be too much for her muscles and joints in her hands. It's a lot to think of, it's a lot to plan.

Cognitively there are zero issues or delays. Her IQ/Intelligence is uneffected and she will progress in areas academically as any other child without this syndrome will. It doesn't affect your mental capacity. In fact, she has exceled above her peers in many areas of language, memory and recognition.
We have to constantly be on watch for joint dislocations. With this disorder, it is one of those things that happens to everyone with this diagnosis......A LOT. We will have to deal with chronic pain and arthritis even at this yound age. It just breaks my heart that my beautiful little princess is going to have deal with pain for the rest of her life. She is such a tough little girl. She has come so far already. She is so brilliantly happy and unaware that anything is different. We the adults just have to learn how to do things Her way. We need to slow down and take our time, be gentle and tender. This is F's world, we have to adapt to it for her.

Our next step, research. Research, research. I don't think I have slept since her diagnosis. Scouring websites and corresponding with Doctors in this field via Email. They all keep coming back to me saying that F is one of the youngest diagnosed children they have heard of. Most children aren't diagnosed until they have chronic dislocations. Usually, their mobility issues are written off as something else before a concrete diagnosis is made. If it wasn't for the support of my parents, my sister and my husband (though often I feel like he has blinders on. I mean it's his princess. She is perfect. He has taken it rough to say the least). Like, I was saying, If it wasn't for the support of my family, helping me with the stress and letting me vent and pushing, pushing, pushing doctors for answers when I was not satisfied, we would have not known so early. We wouldn't have been given the opportunity to make changes NOW before serious joint damage occured. The amazing love that my parents and sister have given F is immeasurable. When we discuss her prognosis, they say eh, we can beat that. Nope, we can work on that. She is going to kick some Major EDS Ass! My dad, ahh be still my heart. When we were first dealing with this as a possiblity his response was, well she has an advantage. She may be one amazing professional dancer some day. Seriously, how awesome is that for a Papa to say? She loves them so much. My mom encourages her to chase my mom every single day around the house, chase the dogs etc to work those legs. It's just the sweetest display of love. Anyway, I digress as usual.

So F will endure intensive physical therapy 3 times a week indefinately, continued leg braces indefinately and other joint braces as injuries present themself. We will set forth in activities that will give her a sense of confidence all while working on some core issues. Swim for leg strength. Gymnastics and dance for balance and muscle tone just to name a few things. We are going to seek out chiropractic care and acupuncture care that specialize in Connective Tissue Disorders to help get a head start on pain management. Nutritional experts to help with our need to really load up on Vit C to help strengthen the blood vessel walls to help prevent them from breaking/rupturing. Find a nutritionist who specifically deals with connective tissue disorders more so collagen production and metabolization. Building lean muscle is so important but at the same time it is so hard to do in a child with hypotonia and joint issues. You can only do so much and again she is only 2 years old.

There is zero medical treatment, zero cure, zero medications to help and very little research going on. All we were told that we can do as parents is to help prevent injury. Help strengthen her and then treat as ailments start to progress as she ages. Sadly, these doctors have ZERO idea who they are dealing with. It is now my lifes mission to help raise awareness for my daughter. Find someway, someone, somehow to increase research on abnormalities in the synthesis and metabolism of collagen (a component of the matrix) and other connective tissue proteins.

For more information on EDS you can refer to NORD (the National Organization for Rare Disorders) http://www.rarediseases.org/

Or Ehlers Danlos National Foundation
http://www.ednf.org/

With some help from some amazing friends, there is a charitable event in the works that will directly send donations to the Ehlers Danlos Research Fund. I will be sure to post that as soon as it is up and running.

I have had my cry, I have had my time of why my little girl. It just proves how amazing she is when just last night, I was lying in bed with her on my chest watching a movie. Ironically, It was a Dolphin Tale. It was all about overcoming disability and I started to cry. My little girl simply said, no crying mama and then proceeded to say tickle tickle tickle while her little hands ran all over my face to make me laugh. At her young age, she is so loving and tender. She is worth every ounce of fight I have in me. We have to be her voice, her advocate. That is our job as parents to do everything we have to do to give her the best childhood, the happiest childhood that is possible.
In the meantime, here are just a couple of recent pictures of our beautiful little girl.
She may not be an athlete but my little comedian and singer may rock a NY Stage someday!! The world is hers to do as she wishes. We just have to adjust the world for her.