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 hours,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?
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
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