This is a older post I wrote but I wanted to keep up on my website. had this on my blog but many of you have asked to re read it. So here it is.
What challenges do families face living with a rare disease and why should we care ?
Capital building in Lansing Michigan on rare disease proclamation day.
This is a personal blog post, and it’s a detailed post of my experience for rare disease day.As a person living and raising a child with a rare genetic disorder called 22q11.2 deletion syndrome the reason why this day is very important is because we are able to have validation. Validation of not only our rare disorder but knowing about other types of rare disease that are out there that don’t even have a name also exist and we are not alone. I can say I know what I have but there are others who can’t yet know there is something different about them or their child. The challenges others face make the challenges we face with how mild or deletion affects us is heartbreaking and makes me feel so blessed that I have 22q11.2 deletion syndrome. I am not taking away the symptoms that need treatment with our disorder or the fact that we are dealing with a lot of our own medical challenges but putting into the entire picture of health into perspective by seeing how much we could have on top of what we don’t have is blessing all in its own.
Having a group of people with different disorders both Adults and children there at the capital who are living with this disorder and rallying to be a voice for each other to support one another and not compete over who knows more was refreshing from being in the online support groups. I enjoyed the interpersonal interactions with some of the other family and making connections with some very proactive advocates. There was no puffing each-other up or down playing any person illness vs the others like we run into online there was no hiding behind a computer screen. It was all out there in the flesh and everyone venerable to not only those who stood up and spoke up but the emotional reactions of everyone who was listening. I love sharing just straight up facts about what rare life was all about.
The people speaking were very brave. I didn’t get up and share my story I missed the sign up deadline and I didn’t get that information about how to do so until I got there. So here I am typing behind my blog and hopes that maybe next year I will get up and share my story.
There are people who choked back tears and I am going to leave names out because I haven’t asked them to share their stories but I feel it’s the facts that they struggle with that need to be addressed by our congress members. Congress I think it’s time to step up and help these families get the support they need to take care of themselves and their children. I would think if you put yourself in the shoes of the people you would understand why there is a strong need to learn how life with a rare disorder is so very challenging.
What if it was one of your own family members who was facing these challenges what would you do ? Where would you look for resources ? What if you were low-income and on Medicaid with children’s special health care that’s what I face with my own family. The heartbreaking stories I am about to share are people who have been facing challenges of not having much-needed services provided or knowing where to look to get the assistance they need. At the time of diagnoses before diagnoses I can attest that nobody told me what resources were out there I have to become my own expert and know more than the doctors and convince doctors with PHD that I knew more than they did about a disorder they knew nothing about. You know I am not the only person who had to experience the fear and frustration that knowing more than a doctor and how it would hinder the life of the person living with the disorder not being able to get tested or treatment because of not knowing where to look or who to turn too. There is a saying that knowledge is power that awareness alone is enough but Knowledge is just the stepping stone because Doctors without knowledge is power to keep us the little people down and suppressed in fear and not able to take a stand against the self-important Phd holders they in fact started at a basic human form just like you and I do and have only read some more books that’s the difference between doctors and us. Doctors don’t like to admit they do not know no different then we hate admiring we don’t know how to find services we need or where to turn to after we get diagnosed. It is often frustrating to have to help the doctors understand the importance of how the rare genetic disorders affect our lives.
Children special health care services stop paying for medications and other services once the child turns 21 years old and are cut off if you have multiple health issues try finding and keeping full-time work with the benefits that are needed. I didn’t know I had 22q11.2 deletion syndrome until I was 21. I also don’t have health insurance. I can’t work either. That is a huge challenge that is not needed for families with a rare genetic disorder when taking care of their health issues is a challenge all on its own. The other frustration families with rare genetic disorders face is legislation of capping of co pays because my daughter has a rare disorder the insurance company’s can not provide coverage unless there is a code.
ssi disqualified my child because they didn’t know what 22q11.2 deletion is I had to spend time appealing the process and fighting with them I could have spent that time I used filling out all those medical papers and having more doctors appointments then needed and spent more time with my child. Do you know the code for 22q11.2 deletion syndrome? no I bet you don’t even if you work in medical billing. So many of the other rare disorders what if what the family’s rare disorder don’t have a name how is treatment provided then?
Groups of disorders are funded by research but what happens after those research study’s are over with ? what happens to all of that private data and information is shared by people if there are so many research study’s out there what stops a cure or treatment from being given to the public even if treating symptoms are all that can come out of these study.
We often know more than professionals doctors nurses teachers and many more so-called professionals with Phds and trying to tell the people with Phds that we know more. How do we get our voices heard? simple we alley up and stand together because we are rare when we are alone but together we are strong is the slogan I took and learned on rare disease day.
Our voices are not very loud at the moment our voices are a quiet whisper among the medical profession but with a blog post here and a story shared there to members of congress we can not be ignored any longer take my blog post for example this isn’t going to go down from the internet and it will have a national audience because I have web hosting and my own domain which I pay for only I can take it down. It’s out there our challenges we face having a rare genetic disorder now that you know what issues we face what are you going to do to help us bond together and fix this. You can become a donor there are needs and people are able to be matched up easily What every parent and child needs is a huge list beyond the basics of food shelter and clothing living on low-income I have my own personal experience in poverty just trying to make the needs of my own family’s basic needs before providing any extra services we needed such as leg braces for my daughter who not only has cerebral palsy but 22q11.2 deletion as well. Price tag for medical bet is out of control just going to get seen by a doctor is 150 at the er not including medical testing which I have multiple of bills to prove the hardships we face as a family with a rare genetic disorder do doctors need to get paid sure but do doctors who don’t even know what our disorder is at the ER need to get paid 150 just for looking at them if you don’t have insurance I think not?
What do we do when we do not know what is happening to our bodies? or are even sure what steps to take are to find the services and care we need. Many people don’t know there is charity care at hospitals for people like me who can not afford to pay 150 medical bill and charity care is income based then if we get it we are looked at like we are a charity case. What do we do when we face depression fear anger and guilt especially when we have passed on this rare disorder to our own children.
Struggles of what it is like to be a mother of a child with a rare disorder is in many of my own blog post but who wants to read the sad blog post all the time. All I can do is dust myself off and see what I can do vs focusing on what I can’t do. There is infectious strength when we are gathered together by a large group of number of people who are facing the same struggles of life with a rare disorder. The need for continued funding after those studies are done for example would be one thing that could take a burden of for many families so we don’t feel like we are alone and forgotten. Local and national fund-raising efforts to help keep children alive with knowledge and hope and compassion example on blogs like mine where you can find some type of hope inspiration and compassion that you are not alone are out there but not very viable to congress members where bloggers voices matter.
Let’s touch the subject of military families do they really have to endure this crap treatment when they get back home too their family’s? Don’t you think military family’s been through enough defending a country that shows lack of respect for service men and women by members of congress who get to sit in big comfy chairs and tell them how it’s going to be when they have no clue the reality of what life really is like military family or not we need more people in office who actually care about the health and wellbeing of the people.
you don’t imagine having a child or being diagnosed with rare disorders and not knowing what’s it’s called or where to go for services or treatment can be a huge challenge. Did you know that Medicaid will not always cover out-of-state travel and sometimes we have to go out-of-state just to find a doctor who knows what our disorders are. Specialist in local areas are lacking and we often wonder if clinical trials are our only hope for treatment at a risk that treatment may or may not work at the risk that after the clinical trial it goes nowhere and it was a waste of time.
Medical equipment such as Wheelchair cost are not covered by Medicaid if it is it’s only one manual vs a power chair and if you have two children you are totally screwed and are left on your own yet again. The rare diseases do not get approved for ramps or conversions for vans how do you transport children who need these medical supplies and services there for taking more money out of parents pockets from the jobs they have to work 40 hours plus the money does not go on children fun stuff forget trips to Disneyland or vacations like the president takes with his family. Finding in home respite care coverage is next to impossible when you have a rare disorder because there is not those right codes that are needed for billing purposes so then what happens? were again alone but together if we continue to share with others how much we go though and struggle as a family.
Primary caregiving causes many health issues of our own health issues and can prevent full care being able to give to children pulling our backs out, health issues of our own if we too have the rare genetic disorder like in my case the cost of treatment for therapy and medications for caregivers is added to that bill because the stress the toll of fighting with insurance companies and doctors and nurses and teachers can cause. Fear of being let down and no one around us are able to understand unless they too are experience the same frustrations of all the multiple doctors appointments only ending up doing the jobs for doctors and school teachers because they cannot fathom what it is like to live with rare genetic disorder no different then we can fathom what life would be like if we lived without a genetic disorder. So many children die because the lack of knowledge that is out there I sadly lost my brother when he was 6 years old. My father and all three half siblings have this same disorder 22q11.2 deletion syndrome the same disorder that myself and my own daughter have and I am for one am exhausted and fed up with not having my voice heard for funding of research for adults with this disorder and many other rare. Two working parents income on a full-time with benefits are needed but with this job economy many parents are one working parent homes because someone needs to be there 24/7 taking care of a child with multiple health issues that can go arise at any given moment.
What does anyone guide us when we are diagnosed? Medicaid waivers are useless waste of time because denial after denials are going to happen when there is no code for a rare disorder not listed.