The Follow-Up

I will keep this quick and just update on today's visit to geneticist.  I took Brooke, Chan and myself.  Doc does feel we all have signs of hyper-mobile ehlers danlos syndrome.  But she also feels like we are not typical cases.  She sees the various traits throughout our family.  She does not feel there is any need to test for any other form of eds.  I agree with her on this.  She does feel that there are good reasons to take a broader look at other genetic issues within our family.  Aidan and myself are her main reasons for this.  She suggested ordering a whole exome sequencing test.  This test would take a "bird's eye view" of our genetic make up.  The doc said she does not recommend this test very often.  She warned it may create more questions.  But she feels it is worth that risk.  She thinks it may help us understand how to proceed.  On our end it is simple.  They need blood work for Aidan, Tim and myself.  The blood test will be anaylzed by a lab and a report will be made.  It can take up to 15 weeks for results.  Doc and genetics counselor both strongly cautioned that we may learn things that simply can't be answered by science today.  I felt like I needed to ask if alien dna may be found, and how this will be covered by insurance? 

 In all seriousness though....I am kind of confused what we are going to learn and how it will help.  Is this test going to help us help Aidan and me?  Or will it just muddy waters?  I know knowledge is power...but if we do not have the knowledge to decipher the info how is that powerful? Yes it may some day be powerful....but can it help us now?  

We are going to proceed even with many questions.  First we need to find out if insurance will even cover.  Some insurances do not.  So we are praying ours feels this may help.  We are also taking Aidan to a pain management doc and a Physiatrist for a consult.  Thank you for prayers and support as we continue on.  Many days I am drained and not sure which way is up.  But hearing encouragement keeps me fighting and moving forward!

Geneticist Visit

I decided to jump on here and give an update on Aidan's appointment.  I know so many prayed and I thank you for that. I can't say we have any clear answers.  I did really like the staff and doc.  They were all very caring and understanding.  Honestly the doc did not offer a ton of hope.  But I guess that is not her job.  She works in facts and realities.  If you have ever been to a geneticist, you know the extensive family history questions they ask.  You also know it is a bit like putting together a 5000 piece puzzle.  It can get confusing and muddy very fast.  This doc was very gentle and soothing in her tone.  I felt comforted by her looks of care towards Aidan.

This is what we know....Aidan is in pain.  Most of his days are spent sitting or laying.  He hurts to walk or do much.  He knows if he plays for a few hours, the next few days he will need rest.  For example I suggested a group I thought he would like.  He said, "Well I probably would. But if I do it I will not be able to swim."  He knows picking one thing means missing out on another.  The doc is not completely sure what is causing the most pain.  We know his joints hurt.  If you sit by him, you will hear popping and cracking from his joints subluxing in and out of socket.  He can't sit still because he needs to move to keep from getting stiff or limbs falling asleep.  We also know he is very weak.  He is not eating the greatest, so we need to determine if he is low in vitamins.  We know his head hurts 70-90% of the day.  She feels this is most likely due to his small chiari herniation.

The doc did some basics tests to test for EDS.  Not that she did not think he had, just wanted to confirm.  She said he has some pretty classic symptoms-doughy skin, pale, see through skin, hyper-mobile joints.  She did not think he was extremely flexible which I have to agree with.  But she also feels he is in so much pain he resists moving in certain ways.  Hyper-mobile EDS is tricky to diagnosis.  There is no blood test to confirm, just observation by doctor.  She feels like Hyper-mobile EDS is the right diagnosis.  With that said, she wants to see myself, Brooke, and Chandler as soon as possible to see and compare whole family.  They have us all coming back on Monday.  She may want to order further genetic testing to rule out any other form of EDS or connective tissue disorder.  But genetic testing is very expensive and not always covered by insurance.  After seeing all of us, she will make the determination if the testing is needed.  She did rule out Marfan's but is still curious to see if his heart is ok.  She will order an EKG to just double check.

She gave us a few other options to pursue.  She definitely thinks he needs a pain management specialist.  We are also referred to a physiotherapist at children's.  Hopefully they can help with some strength and endurance.  She did suggest a scooter or wheel chair.  I was not super thrilled about this simply because I do not want him to become weaker.  But she feels that it would help preserve his energy.  He might use chair for store so he has energy for swim.  She also feels like I am correct in having him see neurosurgeon as soon as possible.  Although I do not want to jump into surgery, we need to sit with him and have him read MRI.  He read and we have talked via email, but I need that face to face.  I need to hear him say...it is time or we can wait a little longer.  We are not just talking a decompression like Brooke (which is nothing to sneeze at).  We are talking a decompression and fusion from skull to c-2.  Yes I know kids have this surgery and do great.  This surgery is not necessarily a fix.  Some are worse after, some require many further surgeries.  I just want to make sure we have covered all our bases and that he is healthy enough for surgery.

Next step is going back Monday with all of us.  If you are praying for our family, please pray for strength for me.  I am not well.  I try to hide it but honestly my body is broken.  Driving, sitting in appointments(while wrestling a 4 year old) and then having to go about the rest of our day is beyond draining.  I do not want to complain....I know we are blessed.  It is just very hard to pick up your feet and move forward some days.  I know what I need is rest but when you have children who need you there is no rest.  I am so grateful for all of the people who have helped us this Christmas season!  I have felt so much the love of others.  I dream of some day writing a post saying "We are healed!"  I pray as time goes on they will find new ways to help us and even ease the pain a bit.  For now, we will move forward and find hope in the future.  And we thank those who walk this journey with us!  You help more than you could possibly know!

A Rambling Mess

Here I am not able to sleep.  I can hear the slight sound of rain on my window.  I know the weather is why I hurt so much today.  Aidan and Chan joined me today with headaches and body aches.  I wish desperately for their sake we could find a cure...a better way to survive this.  Over the past few weeks we have made some pretty big changes again.  It seems like the more we try to live a "normal" life, the more we realize it is just not possible.  That does not mean I quit fighting for it.  I wake up every morning praying and clinging to the idea of health and feeling ok.  I have steered clear of writing because most days I really struggle with what to even say.  But I do find writing it out, seeing it in print helps me to work through it.  Maybe it seems strange to some to have it all out there, but there is a part of me who believes I am supposed to be transparent.  Those who know me know how awful I am at this.  I love to hide behind the "Oh I am doing great" face.  This is my place of honesty.  I do not have to feel the guilt of not having it all together.

I am not really sure about the path we are on right now.  I will say it has been difficult.  Brooke thankfully is thriving in many ways.  School, although a challenge, is going good.  She has dealt with a few health issues.  So far they seem to be related to diet.  We cut gluten out and she is doing much better.  She is seeing the allergy specialist I am seeing in February.  For now she is swimming to continue to strengthen her neck.  I am amazed every day by her fighting spirit and willingness to push through.  Chandler has been struggling.  He has been complaining of headaches even when he is in fun environments.  He has an MRI scheduled for the end of December.  He also is seeing a geneticist in December.  When Brooke was diagnosed all those years ago, I never dreamed my whole family may one day share Chiari and have another Chronic illness like EDS.  If I am being honest, dealing with one chronically ill child is difficult...dealing with 3 plus myself seems impossible. I know it is not but the scheduling of appointments alone is staggering.  Add into that the learning challenges we also face and my days are full before I even blink.

Aidan is my kid I am most worried about.  His headaches have become much worse.  He tries to be a typical boy but pays for it later.  A 2 hour play date with a friend one afternoon, lands him in bed the following day.  School was not working as he was consistently missing.  We are now home schooling.  This adds a whole new layer of crazy to our life.  With me working part time and also needing to be his teacher, plus staying on top of medical issues....I am beat.  Many days I just tell the kids I need them to play quietly so I can rest.  I push and push until my body just crashes.  Sometimes in the midst of the crash I wonder how much longer.  How much longer will my body allow me to treat it this way.  Aidan has been adapting well to being home.  Many days we just lay on the bed and read.  He understands my pain and I understand his.  He and I will both be seeing a new geneticist in December.  We are hoping to be able to travel to NY in the spring to see our neurosurgeon.  I worry about surgery for Aidan.  His surgery will be more complicated than Brooke's was because of the EDS.  I keep praying that swimming will strengthen his neck and head, letting us wait a little longer for surgery.

About 4 1/2 weeks ago I started on a pretty strict diet.  I am doing all of this because of my severe reactions to medications, smells, and foods.  My body has become so reactive to things in my environment it was becoming difficult to go places.  There are certain stores I can't even go in because of smells.  It is horrible torture to be around people who wear heavy cologne.  And I so hate being rude and saying anything.  My reactions though can be anywhere from a skin rash to headache to nausea and vomiting.  Yes just from a smell.  I am not a hypochondriac and it really is not helpful to be called that.  Although the reactions to smells was annoying, my real concern was the reactions I was having to medication.  I broke out in a rash from Zyrtec.  Did you know you could have an allergy to allergy meds?  Several of the meds I was taking on a regular basis caused reactions.  My one doc office did not believe me.  The nurse swore there was no way I was having a reaction to the med.  I asked her if I could please send her a pic of my face.  She called and apologized, telling me she had never heard of someone reacting to that med.  Thankfully I found the brilliant allergy doc in Akron.  He has been a huge blessing.  At this point I must be very careful what meds I consume.  There are only a couple of antibiotics I have not reacted to.  So I researched and my brother researched.  We came up with an elimination diet for me.  It started with 2 weeks of only chicken, leafy greens, herbs, chicken broth, water, and a small bit of tea and coffee.  Those 2 weeks were a bit nuts.  I felt like I was hit by a bus.  It was like 2 weeks of the flu.  Slowly now I am adding in foods.  But honestly if I slip up or get something I should not have...I know it.  The one thing I know my body reacts crazy to is sugar.  And yes I am sure many of you are wondering....no Dr Pepper.  After not having it for over a month, I am really not missing it.  The main thing that is so difficult is all my food must be made from scratch.  I have to plan ahead if I am out.  It is just one more thing I must be committed to.  Even with this food change, I am still reacting to things.  I still need to take one benadryl every morning and night.  I also found out my Vitamin D was super low.  It should be around 40 mine was 8.  My one doc said it was the 2nd lowest he had ever seen.  I am on pretty high dose of Vitamin D now.  Just hoping my body will absorb it like it should.

I have no idea if any of this makes sense.  I used to be able to put thoughts together.  Now I feel like I ramble.  Probably because in my brain that is exactly how it is....a rambling mess.  I have been trying to give myself permission to just not do certain things.  I try not to live by a list anymore.  Because honestly the lists become so long and overwhelming they make me crazy.  I try not to worry about cupboards being in a disarray or toilet paper not on the roll.  I try not to be angry about our circumstances, or regret not being able to do certain things.  I try not to be sad when I just can't do whatever.  I desperately try to find joy where ever I can.  But let me just say I am so thankful for those people in my life I can be completely real with.  The ones who hear my heart of sorrow.  The ones who do not judge me for decisions I make.  And the ones who will listen even if they have no answers.  Having people like that in your life make days like today bearable.