Jane’s Journal and Facts

mom

random memorys

August 2, 2014

   I was thinking back today remember some random times with the princess “miss karli belle” our family and friends.The exsperience living so close to her vs.  many people looking in who share they feel this deep sadness and fear during many of those times .I would share many moments with humor and love were so much stronger and still to this day I can smile when remembering those moments!

I had at one time mis understood HD in the later stages to leave an unaware shell of the person we loved ,they lacked awarness …I honestly found it quite the opposite ..seemed more to me their body just did not cooperate as well as it used to! when we would go out in public…karli took full advantage,just like most children would..her agenda had to be saticfied ..she NEEDED to visit the toys section in every store and when a stranger was present she loved to scream and cry ,the response often did not phase me,others however would react to this poor lil sick child contracted and hurtting…Once she had full attention shed throw me her HA HA sassy grin!!!Once alone she would immediately calm down as if it never occured!If she had never been anything less than healthy I might never have found humor in her tantrums…BUt to this day I still smile because SHE COULD throw a tantrum and she knew how to work it!!

When she had her car seat and wed make our late night trips to walmart “her favorite”.Ill add, she was 11-13 years old contracted most of the time and here she was 4 ft plus inches tall, in a car seat ,under her blanket, in the cart…Id often see ppl react with awww a baby …then go to peek and be surprised and without words…Id tell karli often she needed to shout “surprise!” when they looked in…wed laugh and move on…oh and FYI I say “her favorite” to everything,that is Karli LOVED EVERYTHING and most EVERYONE!

She had this fur real pet parot we spent forever trying to program with her fave saying “Hi loser” so when somone walked into her room she could laugh

we never did quite manage to figure it out!that task was even beyond jacers!once her dynovox was properly programed by katie LOL she was finaly able to readily use the loser button and her all time fave expression there was “mynellys a loser” over and over again…she introduced her sis jacey to her NYA group because jacey was 2 shy…she begged for everything thanks to jacey programing all “her favorites!!!and her circle of classmates never forgott her… every year vanessa invited karli to her birthday party and the kids were just so natural and protective over karli!!! Her first crush that I knew of…when a dear friend Chanelle  got a photo of this young man doing loser for her…I seen this adorable young boy with a spike hair cut and pretty blue eyes and the spikes colored ,a leather studded collar on his neck…O often told her people reacted to her with no words because she was just so very quiet..had they known the karli we all knew, they likely would never had reacted uncomfertable..the young girl who loved most everyone even the boys she teased about being stinky…which by the way, she did tell me shortly before she left us,  she needed me to know all the years she teased boys and told us they had stinkey finger she was only teasing…it was of significant importance to her I knew the truth!!!the wisdom from an innocent soul!

often when convention comes around I think of how so very often she had a medical crisis at those times BUT she loved the hanging out being a part of the community so very much shed waste no time rebounding and getting out there with those very special friends…The last convention was by far her best I think katie and chanelle had her out on the dance floor ALL NIGHT with everyone else …she slept so peaceful and smiled so bright!!!she even had the opportunity to tease billy one more time as he earned his dance with her…when karli was unable to articulate the word, NOW ,she knew the N sound was touch the side of her nose…oh she used it to let us know she meant buisness…oneday she did the NOW meanning” leave my room mom “..I acted upset, left her room and she and her sisters complained about boreing mom who doesnt understand them…I was soooo happy that day…because she could do that and that her sisters could support her …the countless times,one imparticular, when she seen a doc ,once again hospice is called, he doesnt think she will make it through the night…the family and I wait til were alone and ask karli if she is leaving us..she shakes her head no..wakes the next morning begging to go to walmart..have to say even the docs would smile on those moments and be just as surprised . we were often happily surprised at the strength and how quickly her status could change…she had a difficult time with alot of support when the feeding tube issue became a fact…My aunt spent quite sometime in isolation at the hospital with us and the 3 of us would be laughing so hard at such silly random moments the nursing staff would come to check out the situation.I believe it was grace that took us through those critical princess karli bellehours,days,weeks.. and once we finaly returned home she was greeted by the whole family and they all supported her and fussed over her that made a huge difference in how she excepted the new feature..uncle jeff was sharing with her how now she really didnt need to sleep because she ran on batterys…that made the rest of her life..LITERALLY!!she HATED SLEEP!!!before we knew it she was helping other children at ronald mc donald house know that feeding tubes were okay and they could still eat ice cream and be a kid..she sometimes would lift her shirt and tell em it was okay and they could touch it if they wanted…that fragile lil girl who seemingly was frail and disabled LIVED a whole lifetime in such a short time..all because she had a very strong supportive and loving foundation and she never once did anything public with out it being her decision and she had a clear purpose to help “all her friends and family”…tust me I tried to talk her into it being a cure for her shed humor me and yet let me know she wasnt going to be cured ..she knew from begining school that she was going to die at 11…well we never knew what that meant..but she did die shortly after 11 in the morning…I shouldnt say die thats so final and one thing Ive never felt is that she isnt alive …it feels more like we are apart and I miss her but shes alays felt very much alive and warmth…not cold and gone like I thought it might feel!!!and she held our hands every step of her lifetime!!

just a recap

August 5, 2015

Erica turns 25 years old today…For me this is a Day words cannot measure.It was nine years ago and aprox 2 weeks since I recieved the news that NO PARENT or CHILD should ever hear.She was Diagnosed gene positive and symptomatic with Juvenile onset Huntington’s Disease.

What many people do not know is that even within a family where there is a hereditary disease,people do NOT have children carefree and without the same Love Hopes and Dreams other familys have children born into….Education and Technology was NOT even close to what it is today and discrimination and shame had foreced many prior generations to keep silent and to be secrative…when I was young… years ago Doctors also cared for family members “in the closet” so to speak… So many people still today are unaware the true facts of inheritance..still remain silent …and do not know KIDS can get this!!I never knew Love so deep and beyond limits until I became a mom…Erica came into the world so very loved and healthy and spirited …She has grown every year adding to how beautiful our lives are touched by her being the amazing young woman Full of Life as she was created to be..today I still cannot even begin to imagine I day without Erica,she will forever be one of my greattest loves!!!

I in all honesty,myself, along with the countless medical professionals ,we did NOT ever believe erica would be shared this devestating diagnosis..Her father and 2 younger sisters had already been diagnosed both gene positive and symptomatic with the same disease. The odds of even having a single child with JHD was less likely than winning the lottery or being struck by lightening! but 2 and then 3…it took a whole community of us by surprise..Denial was a difficult challange!I remember her crieing in pain and unable to use one sometimes even both her legs…bringing her to a doctor or emergent care..tests having no finding..her personality began to change ..she was impulsive ..now for a teenage girl and add a family with so much to cope with at an influential age it made sense she doesnt behave with reason because her brains not developed hormonal changes maybe docs right she gets viral infections in her legs..after all karli had a viral infection surround her heart creating inflamation…well it began to feel like an all 2 familiar roller coaster of highs and lows…Erica kept saying “mom except it Im sick there is something wrong I feel it”…even then I thought she is worried because…. well eventualy I did begin the process of testing …I felt well prepared for the steps to test…it was countless hours of multiple areas of testing..our school psychologist was a huge help..she worked with a COE ..arranged the special needs team to do the specific testing for HD… we also visited the family doctor and pediatric neurologist and our specialized neurologist out of state..the tests all came back like her sisters 100% what they would find in a person symptomatic with HD!!!yet Denial is strong when the mind and body cannot except such a devastating result…so as we hear the neurologists articulate what ericas multiple diagnosis s were and they warrant gene testing I still felt deep denial.I still did sway between can it really be? to the deep nauseating out of touch with reality feeling… OH GOD NO it is…how is that possible…What i did not know years prior is that this disease doesnt just magicly begin at one random time…its a chronic state of highs and lows of visible and psychological/behavioral symptoms that come and go and month by month become more constant until late stages hit and its seen 24/7…the time when many still think because you see it always now your sick…Thats far from the truth and reality….It can hold an entire chapter of craziness alone.

I have learned that balance is everything …the best possible balance in everday ..rest …medications…weather humidity…stimulation…emotional stress…calories nutrition hydration…amt of activity to stay healthiest BUT not to overdo and need prolonged recovery time..illness allergys hormone fluctuations…to maximize the quality and comfort in life…medications can be as devastating as they can be helpful…many people I forget are not familiar with communication…with a young lady let alone one who processes and interprets communication a bit differently with less impulse control ocd and whatever might be…My girls are pretty amazing people each quite wonderful for who they are…they usualy have the routine down …their own support group at important times…BUT they are quite familiar with how to handle one another until somone is beyond the level to function that level of logical interaction…That lack of understanding by others can be dangerous or hurtful to the sisters …thats when Im reminded our “normal” isnt the same as many???

Anyhow what is extra happy for me today is ERICA is still amazingly strong and filled with life she is still quite spirited and I know with all my heart there is tangible hope for her to live longer than me…there is real hope she will watch her neice grow up and live a whole lifetime..one in which 9 years ago I did not forsee …we hoped and prayed and still have advocated for the changes we need so badly BUT it was only a dream …last year as jacey progressed erica shared her fear,she feard she would be in a wheelchair this year…well SHE IS NOT…and this year for ericas birthday Jacey has been thinking and trying to plan somthing special for her day…even the days or moments I am in tears I Thank God because I today know beyond a doubt the deepest hurt is to lose your child …when they sass …when they argue…when they become ocd and rigid…its beautiful because THEY CAN…I never wish the hard times to end because without a therapeutic or forever fix for us it would be saying Id wish her away and I NEVER wish that ..I cannot imagine the world without erica jacey karisa or even to not have been touched by karli and karl..

…if the car breaks down..house is a mess …somone is inapropriate…spills ..garden hose sprayed inside even doesnt upset me …we live in a world that seems to need to be reminded to slow down relax and apreciate whats truely irreplacable….weather erica wishes to spend her day with jacey and I or do other things its a wonderful beyond words day because SHE CAN….never knew a deeper love than the love for my children now I add a grand daughter ….we are only promised this day and its a beautiful day!!!25 years ago No one knew my children would be ill…I will forever be wealthy for the love in my lifetime…a bonus is I can age with happiness because every year older with each of them is an amazing year!!!so today my bucket of sunshine thunderclouds and filled with sputik is 25 …what mom could wish for more?

9-3-15
PROVE me wrong!!!

As most people are aware,my husband and 13 year old daughter passed away weeks apart from one another. I have two children symptomatic with the same degenerative Brain Disease….The people I love are beautiful intelligent people with strength I still cannot comprehend.I have learned so very many truths while caring for my family.It has been a bitter sweet lifetime in an overwhelming way of good and bad.

I began advocating and networking.I was just happy to assist with anything we could that might help and offer the people I love Hope !!!Well after several years and many amazing wonderful people becoming our close family and friends I began to see the “system” in which passionate intelligent professionals are given to do their research and patient care as being concerning…limiting…bleak in many ways…The days  after kissing my husband and our lil girl, one last time, I began to feel cynical from the misleading and lack of information I had been frequently told.I now look back and feel I was following the masses rather than pursuing what was important to help create change the Juvenile population so desperately has NEEDED …It is NOT the responsibility of researchers to drive and navigate the system ,its our jobs as patient family population to request this for them what work we need them to be free to accomplish…that is an advocate..I was for many years quite the opposite,happy just to support what was there NOT requesting WHAT WE NEEDED or excepting politely when someone else said its not possible…were racing against a clock and everyday is one less day we will be together with love and time to experience LIFE…I

have to say I am not cynical because we cant have true Hope… because it is possible…BUT we need to use our support  wisely and with significant purpose,beyond I support it because that’s all there is. I cannot support any effort today without knowing its needed to build something leading to our goal ,to end suffering,to live a full lifetime…Hope for a purpose filled life is what my daughters would call it!I have already failed one child and my spouse when I supported what was there because I thought they had the right intentions…Today the family community is even in more  stressed and splinted seeking to follow a purpose filled life some uncertain who to trust who will do the most good BUT how many of us have a true defined passion?DREAM ?WISH?…BUT splinters harm us unless they are removed and permitted to heal….we need to maybe ask ourselves the right questions…what is the significance to this ?what does this do to help get one step closer to my dreams wishes what Im passionate about???

Juvenile HD is not common BUT when ppl say “there are not enough kids with this” ask yourself then how did a young girl WITH JHD herself manage to unite so many families on a website and within closed community?look at all the kids on jhdkids.com and multiply it by 2 and that’s the number of jhd families jacey knows personally!!!so IF jacey can connect with that many family s herself WHY is it impossible for an organization to organize an important study that’s non invasive and could help the entire research population with understanding???IF THESE WERE THEIR KIDS WHAT DO YOU THINK MIGHT HAPPEN??? I myself know that for a very long time everyday is quite important…I now am at a place again where I do not know how much longer I will be blessed with one of my dghtrs…I still have to have some kind of Hope for her older sister…then the oldest dghtr is NOT sick and is anticipated to also survive all her sibling….a whole new topic people in general do NOT understand,that’s good and difficult also….its compound grief…except in many ways living a double life ..one where everyone lives the life that’s socially normal..whatever normal is …on the flip side grief and roller coaster of highs and lows with irregular sleep and diets of how many calories and how much to hydrate can we consume safely…behaviors because of processing difficulties and inability to gate emotions and so very much more…try to be that healthy sibling ,not an easy balance,BUT then have ppl try to tell you how to be and who you are….as if they have any true understanding and become cruel and non compassionate IF she doesn’t meet their personal ideas of who she should be ????

So If we with kids are coping with the same disease as the adults have prove it to us!Not simply with the CAG …prove the disease is no different than adult onset…if kids ONLY get it with a 50 or higher repeat try to prove that one…lol several intelligent professionals already have documented conflicting facts!!!so why don’t they take the proper time and invest into learning about the juvenile subgroup ???a true meaningful study saying in its description that WE PLAN AND TRUST THIS WILL BE THE LAST GENERATION TO SUFFER with HD/JHD…don’t white wash the words be straight and be honest !!!IF THE JUVENILES DO MATTER THEN PROVE IT!!!If a child with JHD can do this then why not everyone making significant decisions for these kids LIVES and COMFORT make the BEST POSSIBLE DECISIONS to help open doors for our kids???

my limited understanding led to my falling out

September 22, 2015

 As everyone celebrates the sucsess of meeting with the FDA in Washington I am once again torn between the past and the future.

I had for 2 many years assumed that everything looking at HD was hopeful for JHD equally… After loseing my husband and our youngest child

I began to have more time and energy to see things much clearer.Several years ago I went into a tail spin of fallout from what I still understand as the truth and the limitations that its fallen upon def ears … offering up strength to those who hold more power,the world in which I once believed worked with the heart and wisdom we needed for our kids, simply because our families have such stressors they are overwhelmed just moment to moment!

I simply may have a component of PTSD to my existence today…I am hopeful for those in the future to be diagnosed with this monster we call HD…I am also becoming somewhat hopeful for the counterpart juvenile onset. BUT I flashback with the same emotional strength I had several years ago when I had a clear understanding that our childrens future needed #1 professional gathering(s) and #2 a Natural History study…without those 2 factors doors would not open for funding and investigation or trials…..well I allienated alot of ppl simply begining with a confrence call a freind brought me into….it was to discuss how at UC Davis and several other locations there was potential for a forever fix…I stated that presently it was all for adults and our kids needed to complete something before this encluded them…I was then asked to just forget juvenile onset for a moment and talk about a cure…It set me off…what forget the heart of a mother and her friends…I still to this day try my best to forgive that conversation …I have tried to move on with leaving the ugly words behind me…after all the people didnt create the system ….I try to forgive the rumors following that time about myself and my family! BUT I can reason that ,its logical what was stated everyone advocates and fights for adult onset,its the largest popullation,spare a few for the many,people do not realize when speaking,myself often included that the emotions know no logic…never tell a mom of terminal children to forgett them and think of what can be done!

So I continued on my quest and HDSA did hold a professional gathering that year for JHD…they declined my thoughts that we needed to have family representation present,to this date we still have NO FEED BACK ,which yet leaves me to question its truth of occuring  to be honest! BUT as  result I did hear that the Natural History study our family was pursuing wasnt going to occur any longer, we were instead given an early brain imaging study for juveniles under the age of 18…. I know those who were involved do not know and realize I do understand they dynamics that took place…its clearly been no concern to anyone because what will I do? come unhinged again?seriously their work was already done to discredit me with the fallout in the community which we exist already….sooooooo once again emotions dont care about logic and this woman tries desperately to get away from advocacy

because I often wish to tell all and tell the world in which it has occured no thank you for allowing kids to die and suffer,despite popullar beleif our kids were NOT conceived with the knowledge they would have this or could have this disease particularly juvenile onset…we had no internet social media education about supports in place,cannot say what would have occured should we hae any of that,we didnt plain and simple,we had hidden secrets ,we had fearful ppl discriminated against,labled,outcast,mistruths ….

This brings me to the last year,,,,its been my understanding that our kids didnt need a Natural History study after all..they would ride in with the adults for gene therapy,2-4 years from now…I have been a hopeful skeptic and once again declined to even support the brave intelligent efforts of our families to pursue this..Ive found myself a skeptic wishing to not be..asking questions like HOW CAN our kids be healed when they still do not understand so very much basic defects in the disease and why our kids have such varriation from the adult popullation,it used to be explained by the extra long CAG..However truth discoverd is the cell structure differes..location in brain varries with year symptoms begins and is more wide spread throughout the brain…CAG is as low as 42 and as high as 250…however 80 and above being the most rare presintation and the under 50 being almost half of the kids…an adult can in rare cases have 60 repeats…my list is so very long in frustrations….yesterady I learned in a short video that my serenity what was consoleing my past upsets was being opened once again…that the FDA had stated the juveniles couldnt have gene therapy until AFTER the adults had been through this process…and I apparently was the only person unaware and I wish like no other I had NEVER SEEN that video so I could not flashback to a familiar let down over and over again BUT rather simply celebrate the families sucsess in Washington sharing their personal stories with the FDA!!!! i do hold those still fighting as champions for those of us who do not have the luxery somedays to even recall if we washed our face or brushed our hair…..I do wish them all great sucsess ..I have found myself brought to my knees once again….

Yet i keep going back to 5 years ago this month when I knew what we NEEDED and still had hope to save BOTH my girls…today we have been shut down countless times here in the US and are still behind in the game which today I KNOW one of my 2 girls here at home will inevitably pass away after significant suffering..I failed her…or maybe its simply God needs her home with him? and Im trying desperately to cling to hope for our older dghtr at home and some very special children in our circle of family/freinds that we still have time…however IF its true and we cannot skip steps to get our kids through and IF it doesnt work as hoped I will have lost 3 children and THAT IS NEVER GOING TO BE OKAY! I will cry with some very special dear parents as they feel what i know never goes away….No matter what labels are given no matter what restraints on how to greive….MY wish today is simply not things not for myself not for anything less than God show us mercy and sustain us with his grace guide us to spare our children from something that ravages our children families communities….as we are told to enter the kindgom with the heart of a child ..I wish we lived in a society that was purely all the goodness it was intended to be…not about games and races and hurdles for LIFE and kissing up to those who hold the power and control here on this earth!!! I also wish for peace in my heart and mind once again…I cannot unknow whats been shared but I could very well be misunderstanding what we truely have needed…I could be misunderstanding why the ppl in the past did what they have done that brought me to my last thread of strength to beleive the world in which we fight and advocate will care about our children….anyhow for most people this is a quick summary of what truthfuly has occured that created my disconntent and adverse relationships over the last several years…Ive learned life and death seriousness when trust is concerned

Restless Legs Syndrome.. think of rls as the nutrient not getting into the nucleus to feed deep in the cell well here is a test question do you remember WHY its not reaching the nucleus??? its one significant difference between jhd and hd.. its simply the cell structure itself in jhd the rna is inside the nucleus clogging up the nuclear pores this is different than seen in adults in adult onset its outside the nuclear pore so the clearing mechanism wont be the same and exchange will be different ..so with rls how do you get the nurtient deep into that cell????its more likely going to exacerbate other already common concerns??? try placing a bar of ivory soap under the bed sheet by where the feet are its crazy silly sounding but its that or simply a body sox think maybe sensory input and its not long term help I know NOTHING is going to help long term BUT knowing stages and what we can do for them and sadly there isnt a drug or suplement fix that the prior 30 years plus of parents have found to date, however like Ive shared in the past the deep itching I believe was helped with a drug methnadone??

Constipation.. This is common with jhd and hd alike I was taught to think of ALL systems behaving the same as what we see externally.. GI seems one of the first and goes through stages throughout the entire progression.. we were told by several specialists they refer to it as slow dumping syndrome ..another words there are slow and rapid areas and in some children digestion can stop for a time all together as if its asleep ,so with that in mind reflux loose bms and constipation can all occur basically even within one days time frame .. also sensitivity to cows protein at different stages …HOWEVER the medication,which may have been pulled since our last script,to enable a smooth passing does cause movements and moods to be terrible so thats quickly learned that its as needed only(reglan) BUT miralax and an antacid like prevacid disolve tabs become a regular treatment and isnt always fully effective …

Botox.. we did them one time end of life they were wonderful BUT they could only do thighs because the dosage for size and safety… they talked about botox injections in location of throat for jaceys larynx /esophegus she has spasms that prevent her from breathing BUT they will not do this unless she is at risk of it being a life and death risk…thus far her brain will still RESET … how many ppl think well if its stops her breathing why is she still with us…the episodes do pass within aprox 1 minutes time and we never know when they will happen also cautiously aware when she uses utensils and so forth because her body just one random day almost poked her eye with a fork that began several years back so now were aware it can happen never know if it will. Im kinda glad you made reference to this impacting swallow jacey has had a rough several days with me worried and I dont worry easily but that darn throat and lungs being affected I just hate this disease…not so much worried of aspiration as I am that she has changed and its become chronic…Im really feeling maybe sinimet or baclofen might help??? my thinking is if its to aid the movement disorder itself maybe it could help the body as a whole??and the whole ..Im sure it wouldnt impact those wide swings in her vitals and she no longer can swallow the vitamins with essential Bs D and iodine I tried crushing BUT you can guess how that one went UCK. baclofen never helped karli either but for her she was contracted overnight …but jaceys a whole new presentation on some things so i wondered we dont want a lower seizure threshold thats big to know

Right now as gene editing is being researched for jhd also what we simply need are existing drugs and supplements that can help give our kids the time and quality of life they need as we families continue to advocate and support advanced understanding and needs for juvenile Huntington s population its possible to make this happen for jhd other populations with both adult and juveniles have managed to accomplish it and find their treatments and cures through what juveniles taught them…many people still today hear HD and think it encompasses our kids also … yes its a p me off also… we just really need to remain diligent in stating that there are differences beyond CAG repeats between presentation in kids vs adults …

Birth Control.. with the hormone swings in the girls they do seem to have exaggerated symptoms cyclically… birth control with the girls I found HORRIBLE especially shot… I do beleive if you research the estrogen and this disease it might talk about a process you might find helpful????Im not sure to be honest because I dont have any boys … pregnancy is documented in a case study to progress HD in females and some are fortunate to live …I only know this because we had to go to court for insurance to cover a tubal ligation and to be honest I fear the spasms in my dghtr impact her health also with clamps and plugs in place…I personaly feel its a tuff time normaly BUT with girls its look out me and everyone at a certain time in a cycle

I really think the sugar is because the defect in a glucose transporter partially and with the nucleus being clogged how do they get enough energy into it??not to mention extra energy to muscles is like an aerobic state so it requires more to keep up???

Morphine slows down the body enough that especially at end stages it can be deadly to a child with juvenile huntington’s disease

Their heartbeat its always high or it fluctuates?? jhd does or can include cardiac involvement also ,not to alarm you sorry , anyhow Im not sure how other familys have experienced the BP and pulse …we have thus far had the random swings high then low then normal and it can all be within a short time… quite some time ago jacey had something like this occur in school and fell passed out and was ery pale and grey in extremities and around her lips and nose. cold to touch doctor immediately did EKG which was fine BUT karli had eventually turned into a Long QT syndrom after several years of the fluctuations…

Im curious about something…Ive noticed forever ago that my girls have a hard time explaining or identifying their pain or discomfort..they know itching but tummy has always been I feel sick and hold their tummy in center…okay well Tuesday after ot left at about 5 pm jacey had been in a mood and took 3 falls with her muscle seizures coming on suddenly ,all before midnight..the night got much longer following trying to keep her body calm and unlocked BUT she kept saying she felt sick …Wednesday she woke with a terrible “itchy” throat that made it hard to swallow ..her explanation…I looked and her throat was so red and inflamed..It wasnt until Thursday evening she was able to say it feels funny ..down her esophagus sides is where she touched..of course by this time its easily double the inflammation,so is this how the body interprets information with neuro damage? or do they truly feel pain and itching and other sensations differently? it explains her behaviors and her bodys behaviors she clearly has ANOTHER virus her sister was ill last week BUT she was better able to tell me ..makes me wonder about the generalized pain she feels Ive often thought its inpart 2 issues low TSH level and Vit D deficient because those 2 in combination did seem to help add high B vitamins and she wasnt as fatigued BUT swallow makes it hard to get anything in her.

here is another thought that lingers I do not know what to do with the understanding…so the science daily article shared that they found juvenile hd mice die when trying gene editing/silencing(?) as in mice younger than 4 months of age…Kyle Fink designed a jhd mouse model with an actual JHD immune system and they only live for aprox 1 month. SO Im assuming this implies the juveniles immune system is an important contribution to disease progression? SO take that and the cell structure being juvenile cell has the build up mainly inside nucleus where as adult onset its outside mainly so they relate this to different clearing mechanism needs for the 2 types of onset.. NOW my first thought is how the heck do they say that adults prove then kids follow as if its safe for both if its safe for adults? then I think okay if the immune system was known and treated effectively would this make a big difference?This leads me to what happens when a jhder is given diagnosis after the defined juvenile age range? will trials for adults be safe for them? like CM Moore could it truly have been a God wink that erin was excluded from the trial just a lingering thought? and what really bothers me more now is if this is all true and holds weight dont jhders NEED their own investigation vs the hope and pray it works out? who is actualy able to take this limited amt of understanding and make sense of it? does it mean what???I still wish and hope to hear the international group is doing the jhd natural history part of what pegs study is doing does collect SOME data required for a real natural history its just limited in the whole NH needs …and why do I drive myself goofy with these ideas??AND then I ask myself when my girls and others become adult age does the structure and so forth change with maturation? I suspect it may very well not…BUT IF NOT what do they know about how to diagnose the true juvenile onset then for those who were refused earlier testing??will that matter??

just my days thought!

Nov 16, 2015

Im uncertain how to begin this note as its a very personal and emotional relationship and time in my life. To share anything about myself I find a challenge, to share intelligibly is often impossible. My close friendship began with Jonathan shortly after my husband and youngest daughter passed away. One of many extreme low times in my life…. it truly took alot of strength on the part of some compassionate caring friends and family to carry me through this time…Jon was one of them…he spent alot of time being patient and kind in the most loving of ways …even on the hours I was at my lowest and wanting to just lay down and never get back up because the pain was just far too much to carry. Jon and my daughters were the ones who kept me going lifted me back up and helped me to take that next step…Jonathan and jacey spoke to me about God being simply LOVE ….The kids and Jonathan taught me how to begin again and feel a new Joy with my deeper understanding of life!!! Thats priceless and for me a personal demonstration how God works miracles through those able to live life with purpose and the understanding of their gifts..
This is time I personally reached not only my lowest but also stood back up to feel some of the happiest hours I could recall in a very long time.I learned so many new perspectives of both injustice and humanity and even analytical of bureaucracy( a grand complex design of what is right and wrong in the world structures today) … The misconceptions many people formulate and impose on Jonathan and his choices in life…its surprising how many people do not understand who Jonathan is and what has occurred in his lifetime to lead him to become the man in which he is today!!! Many people see in 2 dimension or black and white when developing impressions and opinions …we are all anything beyond 2 dimensional and life is in color ..Jon happens to cover about every color spectrum we are capable of ever seeing!
Jonathan happens to be one of several people who can still get my emotions in an uproar and let me see how hot headed I can be …lol and darn him he does it with the calmest and greatest patients….Jon has shared with me on several recent occasions that he doesn’t believe he is long for this lifetime.I like to think its because he feels so ill and dependant on help himself???… I have to say this doesn’t settle well with myself or many of us close to and distant from Jon… Im sharing this part of our story because I honestly do not know myself how to help Jonathan and his family have the same strength and Hope he has given to me and many others… I have never believed that disease and destruction are created by a God…I do happen to believe that a loving God is able to take what is negative and use it for something good…. I dont fear death myself,nor do I welcome it…in this situation I am angry and fearful and find it emotionally painful and unfair that Jonathan and his son(who has already lost his mother at a young age) his parents (who should be enjoying retirement yet are caring for and helping ) myself (whos immediate family ,all except 1 child were given terminal diagnosis) and all of Jons friends and those he advocates for live in limbo of uncertainty… Some days I half heartedly joke saying “stay away from me if youd like to live because everyone who gets 2 close gets ill suffers and dies”….
Jon is often a strong force of sharing his truths and understanding in this world while fighting his own debilitating health….I think once again…imagine the strength in Jon as a healthy man and the personal journey that creates him in this world…he has had so very many deep personal issues and now this latest serious diagnosis and struggle…not only the intellect to see and understand so much that can help humanity BUT to be able to advocate with such a personal understanding with compassion and truthful insight…I might never understand why such things happen to good people but I do know once again I have been literally brought to my knees with bargaining ..begging pleading that someone who mean much more than I can ever state is restored to health and can live his lifetime of dreams after having given his prior lifetime to others and living under scrutiny and judgment for the choices who have in fact created the person he has become today!!!I TELL the God I know today please please please how much heartache and suffering and loss can any one person know and carry before it destroys them… We so badly Need to feel the strength in miracles ..in the goodness of humanity…we dont NEED things trips bigger better more faster..we NEED love compassion happy moments of everyday beauty and good balanced health for the people we love acceptance and understanding…without this wed have what???to be unable to share love and life makes it empty and meaningless…..Jonathan simply NEEDS a kidney and his health restored and he would never ask anyone for an organ to save his own life because he does deeply value this for everyone…He needs wise and intelligent compassionate care by his care team and he needs loving support by his family and friends to guide him through this fight for life!!! I personally think he also needs permission to rest and care for himself at the same time….to feel less stressed and more blessed!!!
THURSDAY, MAY 26, 2016
I may have given people the understanding that I do not support organizations such as HDSA ,HDF,CHDI,Help 4 HD …Truth is I know they are organizations needed and or wanted by many people and its not the organizations I am unhappy with,its MY limited understanding of what they are committed to do in service to helping our families .
I was misguided to assume they made decisions and advocated for every ones NEEDS .That they were always updated about the who whats wheres and importance of what needed to be advocated for and supported only those needs. I simply have been upset with myself for assuming in the end. We all hold a significant responsibility of being wise and best educated in what we do or do not support . Having already said see ya later to my husband and youngest daughter ,hearing and watching my children and those of my friends decline and leave 2 soon has led me to feel the seriousness of all our choices including my own.
If asked would you rather have a scholarship or a study that was essential to JHD OF COURSE No brainer there …would I rather have education resources that help live with the disease or a study that developed a TRUE significant understanding of this disease to build a strong foundation for our childrens care and future Id choose the study… If told this is what exists to support or go with nothing until the best study came along…Id go with nothing and honestly have lived by these words.
When I began I needed these organizations and I needed the truth not the sugar coated words…that ALL research helps ALL ppl with HD…that has been my most painful truth to know not all that exists is significant and its may in fact never help our kids…NOT ENOUGH honestly NEEDED studying of JHD has occurred to say its the same as HD..actually evidence tends to lean thus far in opposition to that…well then I learn JHD will always be AFTER proven in adults … I wish we had an honest acct of how many kids have ever fit into a trial once adult age also based on criteria determination!!and my questions just overwhelm me …
So NO I am not in opposition of any organization today I AM SIMPLY UNHAPPY WITH how the systems are structured to not initiate and follow through with whats beneficial for JHD,If thats how I cared for my loved ones I feel Id be less loving and more a risk, practicing doctors in general will do what they know …by trial and error.. seek something that helps their symptoms and it does require parents be the educated advocates ourselves ,many parents like myself waiting for positive news with hope for a miracle in our hearts . If I support something that exists today because its all we have I dont rest well, I used to simply trust what was is whats best BUT then came my introduction to therapeutic care and that fearful day we parents share,,, I lost my youngest daughter and began to learn more than I care to know,how much is true I still wrestle with. I also find that if Its something Im not able or willing to help, I try to not go there.
The NH study didnt take off not just because someone usurped it but also a lack of organized support and effective communication … I still feel Im the only person who felt beyond harmed by that failure… I know the researchers stated I WAS THE ONLY person in support of it and have since known its not the whole truth because we met others in IOWA and I heard from families getting pushed away or ignored when they did call them to inquire…YES MY FOREVER Rant…wouldnt be if I dint feel life and death serious for some pretty special kids!!! so see its a me rant not because any organization didnt uphold their function, my interpretation of and what it is are different thats all..It wasnt meant to be or it all would have worked out smoothly , my hurt comes from I was trusting even my girls MIGHT have had something timely ,every day it doesnt happen well I felt more distress and fear of what I already have known..every parents worst fear!!!
Jacey left the house!
JANUARY 21, 2016
Jacey has been terribly sick the last couple of days…one thing I really HATE is simply how easy the girls get sick…we left the house that simple ..she has a virus…so anytime you see us outside the house say a prayer that we fair well through the illness to follow…just saying…The worst is knowing she NEEDS medication just to maintain and it must stay in her to absorb…Tummy virus is not so kind …her anti convulsion and required meds are not to be safely and rapidly withdrawn from ..here in begins much larger problems for keeping her home…
So imagine having muscle spasms that are like 200 ab crunches a minute,charlie horse pain in those spasms which gets exaggerated by dehydration cramps in the muscles and a GI virus all in which she is aware of and feels… then to get the girl medicated …throw in the fact that she requires 6-7 tall sports bottles on fluids daily just to maintain hydration normally… and it takes jacey so very low this year .. the positive is that I now know why her body began to misbehave so terribly and its temporary… Im both feeling a sigh I THINK shes through the worst of it ,also just sharing what its like for some ppl to be simply sick…makes it feel not so bad when Im ill for sure!…
Here you see are my thoughts …if the hydration is low and the fever begins seizures and more muscle activity occurs and its a vicious cycle she gets locked into.. that my job is to try and prevent IF POSSIBLE..Jacey is photo sensitive and hospital lights cause her on a healthy day to feel ill… so I do for a number of reasons try to keep her home if at all possible…THEN the afterwards its a celebration and exhaustion both on my part BUT its not simply a day or two to rebound it takes her much longer.. I spent a good part of last night quietly doing my inventory in my mind to reassure myself we could make it through the night and the worst would be over or morning would come and I could get my brother to carry her for me so we could make a mad run for her doctors…I do this while having flashes of past memory s,those memory s help me to know were okay its not as horrible as it could be…this is doable and she will be okay…
She is finally comfortable calm and asleep ..next several days we will get back to finding out how much she still can do herself…I think simply amazing how resilient our bodies can be .. and simply because we left our home to enjoy something different!Jacey and erica are both quite aware when they decide to do anything what the risks are and the cost they will potentially endure…
As we enter a New Year
SUNDAY, JANUARY 3, 2016
Randy Mills reminds me, in a capitalistic society Integrity still does exist… the California Stem Cell report blog spot from December 16,2015 addresses the Need for FDA reform , to meet half way in a manner of speaking,is my personal interpretation of this…Time is precious and I have a heightened awareness of this fact …the professionals teams at CIRM are a huge strength for me as I head into 2016.Of course there are others as well I am praying celebrate by years end success in being able to use their work and gifts for what they are intended!
The year 2015 once again has many highs and lows…How I experience them is not in Things Careers Education savings,I experience them quite simply in Life Love and ability to simply look forward to a future based upon those values.How do we bridge that in a capitalistic society??? price tags cannot be used to purchase neither of those…Yet to look forward to a future that is positive will requires the means to utilize money to save lives and restore health…we cannot purchase life BUT to deny the financial support to enable therapeutics in a sense does state we can ensure death,quite conflicting?How can I as mom of 2 terminally ill children who has already buried a husband and child wrap my heart around this concept and live with acceptance and peace???I struggle deeply with this.Every step for years has felt like a marathon of hurdles from my perspective.
Since Thanksgiving time 2015 to present day our community, that is connected with one another for support, has stood by with heavy hearts as 6 families have watched a child leave…the deep pain that money also cannot buy and nothing can replace.We are still a community with many Children diagnosed, in process of diagnosis and looking to future families joining our community …The only study in the US today being funded offers honestly information that has been done and is documented by professionals on an International level in multiple articles..The studys our community has NEEDED to build on the past and move forward with hope for our children is seemingly ALWAYS denied support and funding…
I cannot silently except the statements that..when their is an adult and juvenile population the children must wait until after it is proven in the adult population… WE WOULD NOT be the first community in diseases to find therapeutics because of studying the children…Not to mention its quite strongly stated that our juvenile presentation has differences that is not founded in the adult onset disease process….from a mothers point of view to do nothing is to do harm,to deny specific needed study’s ensures suffering and certain death….How many parents would feel okay with placing a price tag on their child s life or even denying them a chance at life?I am guessing NONE…so how is it that to first do no harm is to do nothing???
I have no resolution for the New Year I do have a dream and that dream is for this year to be proven wrong to see the Integrity unfold and become implemented in the lives of our professionals and our family s who DESPERATELY and simply value Life and Love for our future and the children!!! I wont say I dont believe it cant happen…I will say I know its possible BUT HOW and WHO holds the pieces our children need to Live in comfort and future dreams full filled as all children live and have an innate right to life??
Just my 2 cents of thought as we enter a New Year and My best wishes and hope for everyone that humanity and goodness preside over this Blessed New Year!!
Positive Energy required!
·THURSDAY, JANUARY 28, 2016
Imagine you had lived your lifetime with very little reason to have hope that your children/child would ever grow up to simply be healthy happy adults… Instead they would know the depth of suffering and loss beyond most of our comprehension… and all before they would leave at a very young age … then to learn.as a parent, that research was required to care for explore and address adults first and many professionals shy away from the youth because of the complicated disease presentation and their young age.. funding is in a manner of speaking a new risky arena for juveniles,considering their history of exclusion and the new era of cures and gene therapy/editing..that those adult trials can last up to 10-15 years…your child s longest possible prognosis…
THEN you learn of a group of amazing dedicated selfless professionals who simply wish to use their talent to save these children and as timely as their ability and the bureaucracy permits.. …BUT time is significant and their work is a long labor of Love that remains unfunded.. Yet they are doing all they can to keep the work in process and fight with the same passion and heart as these kids they work so tirelessly to help…a dream simply to deliver these children a lifetime like all children conceived have,including the jhd popullation before a diagnosis is given …This leaves our families the first time ever tangible hope that we might share dreams and moments most kids/parents enjoy for a lifetime…also offer parents who have said see you later too soon… the validation that it matters and their child helped many children…to honor those who fought with courage and grace….so if you see alot of fundraisers cross my page or conversations about how to help our kids have the time needed ….which is as equally important to offer the best possible Hope and time so maybe their future might include them in a future gene editing therapy….. I simply hope you understand the reason is because for my family and many others this is Life and Death serious for our children…I apologize to anyone it might annoy and Thank those who are understanding and in advance…I sincerely Thank everyone who has supported juvenile Huntington s disease in both small and large acts of kindness because they are equally priceless to some pretty special heros!!! and maybe some people will feel inspired knowing that raising funds or donating to this effort is honestly and simply all money goes DIRECTLY to the actual research for what its intended…hard to find today a place where the intention and gift is the outcome !!!

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