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!