From Canada to Australia to the USA, to the UK, New Zealand, Ireland, Germany, South Africa, Belgium, Spain, Poland, the Netherlands, France and many more countries – my quest to find others like us who are affected by PVNH is equal to that of the families finding us. Most importantly, PVNH Support & Awareness TM and Ella have touched countless people. There are now 500+ families in 34 different countries in our support community – all have a form of PVNH or another neuronal heteropia confirmed diagnosis, such as SBH (Subcortical Band Heterotopia). Many more have additional cortical disorders and all strive to find asnwers and receive better care by joining our quest for awareness.
Whether it is moms and dads needing support; families dealing with rare disorders who happen to stumble on Ella’s story, adults affected, or families looking for answers with regards to a diagnosis that is in line with Ella’s disease (PVNH) in particular or another neuronal heterotpia disorder, PVNH Support & Awareness TM and Ella have a voice around the world.
And that’s just the beginning!
Please help me broaden PVNH Support & Awareness TM and Ella’s horizons by sharing our story. And your story.
Our son we are have adopted from my Step Daughter was diagnosed with this disease last January. It was not passed on through either parent, possibly caused by an Xray and MRI that had been done in the first stages of pregnancy.
I would love to share Lucas’s story and show other families there is hope. Our little man is such a fighter and he is our Success story!
Hello Yolaine,
I hope your doing well.
I wrote to you about a year ago or so through Facebook but know that I no longer have one I would like to reach out to you. First of all let me tell you that I am very happy that with Ella’s story you have taken PVNH to new level, touching others hearts and making people aware of a condition not known by many. My daughter is currently 27 months old she was diagnosed witty PVNH at the age of 8 months, which took second opinions and a lot of insistence we finally had a clear answer for why she had seizures and had so many lung problems. Till know my daughter has respitory issues she is fine one day and wakes up needing nebulizing treatments. She has poor muscle toun there for she does not sit,walk, talk or eat through her mouth. She also has infantile spasms due to PVNH and on multiple seizure medications. I have to say it has been a long road well worth the time and effort as a parent who has a daughter with PVNH and also a lost a daughter with down syndrome I. Completely understand how you have felt though the years how your will for an answer was something you need and the pain in your heart doesn’t go away no matter how much time passes. If you would like to also be a part of awareness and help if my daughters story can help a family in any way I am more than happy to help.
Thank you,
Kathy
Kathy, thank you for your words of support and for opening up about your own family story. I would love to feature your family in the Faces of PVNH tab, if that is what you wish to do. The more profiles we have, the easier medical professionals can get it into their heads that no two cases are alike when it comes to rare diseases, and that we are not simple cases that can be just brushed aside. Big hugs, Yolaine
Elaine, I would love to be feature Lucas’ story. I will gather details and submit something to you for review in the next little while. Big hugs. Yolaine
Thank you for sharing your story, I’m the first in our family to have surviving boys for 150 years and we finally have a genetics appointment in 11 more days (yes, I’m counting the days). I’m going to be asking them to test the FLNA gene. DS1 (19) has uncontrolled asthma, DS2 (14) partial agenesis of the corpus callosum, DS3 (6) is deaf. We thought DD (11) was unaffected by anything major but last week had her first anaphylactic reaction. We’re all hypermobile and have loads of seemingly isolated health complaints, but the walshlab paper describes us completely, my children, me, my mum, my grandma … all the little bits that don’t quite sit with EDS
Tracy
Tracy, Glad I can be of support. Let me know if you want to join the group on Facebook, it’s simple enough: send a request in via the page and I’ll reconfirm its you, and then do a formal intro to our families. I will then add you to the registry I keep as well. we have amazing families! if you’re not ready for that, we can communicate by phone or email. Where is your appointment?
Wishing you and yours nothing but good health.
Yolaine
The appointment is at St Mary’s, Manchester, with Bronwyn Kerr. It’s taken a LOT of fighting and a formal complaint to get anywhere, it’s only in the last year we’ve been diagnosed with anything at all, ‘just one of those things’, ‘wait and see’. I’d never heard of PVNH, but my daughters physio asked if it was the same thing as the ACC, so I looked it up. My little brother passed away at 6 months old and we never really found out why (he had the same problems, but the cause of death was SIDS). My mum passed away at 55 with heart problems, it’s my dream to sit by her grave and tell her the answer. PVNH might not be the answer, but discovering it exists (and all the seemingly isolated problems CAN be related) has given me a little bit of extra strength to keep going
Tracy, ACC and PVNH are different but have been associated before. We actually have families in the support group with both. Because of your family history, you should ask dr. Kerr to be referred to a neurologist, if that has not been done yet, so that they can do an mri on you. That would be the simplest way to get you a PVNH diagnosis and if that is confirmed, then they would likely order the DNA FLNA analysis. If you have note prepared it yet, do a family tree and go as far back as you can with the medical information you know. She will still have to that exercise with you but it makes it simpler if you are ready. You may also want to bring the Walsh paper with you. Keep me posted. The group will be happy to support you.
Hi, Yolaine I am very sorry about Ella she was an angel. I have being searching in the internet for people all around the world asking question who knew about this PVNH4 and never had a chance to know somebody yet until i found your angel Ella story… I am original from Bolivia South America but I live here in the USA. I have a 13 year old girl all her life I knew there was something special about her but no doctor never notice her symptoms all started with pain in her body dilocations until last year 2011 they finally told she has EDS type 3 I was relieve to find out why she was suffering with to much pain but now i knew how to treat her and take care of her body… Until the ends os 2011 she started conplainin of headache, dizzy, numbing in her face, waking unbalance, loss of memory, lower grades in school, panic attaks, black out, and so on symptoms with no explanation… They did a MRI and found out she had multiple heteroptopia in the brain. They called it Subependymal Heterotopia, the neorologist told me to not worry some people leave with it and as long as she doesnt have seizures she can have a normal life and just in case they will do an neurophysiology testing… I did my research and found there is a chance of PVNH4 she could have. I went back to the neurologist and told her are you sure its not PVNH4 and she said NO… I went to the genetics and told her I think she has this and they told me that Subependymal and Periventricular Heterotopia are almost the same but the MRI said she doesnt have no Periventricular.. And i said to him please just do a test on her just to make sure… If it wasnt for my research and insisting doctors for help I wold be able to find out… The results came in they apologize to me and said its positive she has PVNH4 They have send me to a cardiologist she has POTS in tops of all her heart is leaking mild, her heart its pumping so fast and some times to low up to 30 beats per min. All of these what i am sharing with you has happen this year this month and still is. I feel so alone the doctors never saw this they only had read in the medical book, she is so rare… I am afraid they give her wrong medications I call everywhere for answers and I think I found something but not sure at this hospital JOHN HOPKINGS at Baltimore Maryland…. I get fustrated when doctors dont know and never saw it and they try to experiment on her with meds and they tell me thing I already know… It is hard to leave with my daughter trying her best and you knowing that anytime her aorta is getting larger or the leak of the heart or her body pain or the dislocation, so many thing I only hold on to my faith and for god to guide me to the right path…
God bless all the people who are reading my story and to those who have this and to the people who take care of this angels… They are so fragil… And Mrs. Dupont I thank you for your page for other to know abouth PVNH4 specially DOCTORS…
Connie
connie, so glad you found us. you should consider joing the pvnh support group which currently resides on facebook. there are now 104 families from around the world who joined because they have are affected patients or have patients who are. We would love to hear your story and how you coped, as well as offer our support.PS Thank you for your kind words. Yolaine