ROHHAD in Ireland

 I received this story in my email today. It still shocks me that my daughter has ROHHAD. It's a horrible disease that destroys a child's life. There is no cure. Most doctors, if they take some time to learn about it, pass you around until some specialist says yes, they'll take you. Our daughter, Haven, is now 19 and has been living with this for almost 17 years. She was also diagnosed with Neuroblastoma Cancer, which is how we even found out about her ROHHAD. She's done experimental treatments to stop the progression. We believe it has helped tremendously but ultimately there is no stopping this disease. 

Please take a moment and learn about Caoimhin Adams, an 8 year old boy from a small place in Ireland. 

ROHHAD IN IRELAND

My condolences to the family. 

Rare Disease Day 2021

 

Our daughter was diagnosed with a very rare disease in 2007. She was noted by John's Hopkins as the 31st case in WORLD. With such a low number of cases it was disheartening but also made it easy to find other families who had been diagnosed. 

ROHHAD SYNDROME 

After our daughter battled cancer we had to take on ROHHAD. 

What does ROHHAD mean?

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation

What is ROHHAD Syndrome?

ROHHAD is an acronym for rapid-onset obesity (RO) with hypothalamic dysregulation (H), hypoventilation (H), and autonomic dysregulation (AD). It is a rare, life-threatening syndrome that affects the autonomic nervous system (which controls involuntary actions like breathing and your heartbeat) and the endocrine system. As the name suggests, the key features include dramatic weight gain over a six- to 12-month period in the first 10 years of life, followed by hypothalamic dysfunction, dysregulation of the autonomic nervous system, and alveolar hypoventilation. Children with ROHHAD appear to have normal growth, development, and general health prior to onset of symptoms. The cause of ROHHAD is currently unknown.Treatment varies based on the signs and symptoms present in each person.

(Please see rare disease on the NIH website)

How the heck did we find out about ROHHAD and have our daughter Diagnosed?

After three years of misery and a hospital in CA almost killing our daughter with anesthesia that we now know should not be given to ROHHAD children we moved to Maryland to save her.

https://www.hopkinsmedicine.org/news/articles/with-complex-cases-come-synergy-and-serendipity-diagnosing-rohhad

 After months of Dr. Cooke (endocrinologist) running tests on her we found the cancer and he started working with Dr. Paz-Priel in Oncology. Without them we would have lost our daughter. 

https://www.hopkinsmedicine.org/news/articles/the-mysteries-of-rohhad-with-pediatric-endocrinologist-david-cooke

Check out the TV show Mystery Diagnosis and our fight to be diagnosed. Haven is still going strong. 

https://youtu.be/m92K8hItup4

Donating her hair!!!!  Thanks everyone for your support over the years. 

Bone Age Scan

Today Haven went to Endocrine - which was great because we haven't had an Endo doctor in a few months since her last one retired.  We went through all of her lab results and discussed the tumor in the stomach and her upcoming meeting with Orthopedics for her spine.

All of her labs look great. iGg is at 722 and her diabetes test came back no where near having diabetes.

With that we had to do a bone age X-ray to assess her bone age vs. physical age.  I just received the phone call from her doctor and Haven is 11 1/2 years old but her bones are aged 12 1/2 years old.  Not too bad.  He stated at most she will probably be 5 feet tall and hopefully push to 5' 2".  Nothing near daddy's height but closer to mom.

Next up will be a day at IVIG before we head in to any more doctor appointments.

ROHHAD: Kira - 9 years old - passes away :(

Kira, 9 years old, gains her ROHHAD angel wings

Dearest friends....it is with a heavy heart and sadness that I must share that one of our sweetest and dearest friends has lost her battle with ROHHAD and gained her angel wings.  I have known Kira and her family for a few years now and am blessed to have known her and had her in our life.  We will miss her but take comfort knowing she is watching over all of our babies from above.  All our love to her family.

ROHHAD in Scotland

This is an article written about one of our ROHHAD friends.  She lives in Scotland.  I wanted to share because there are so few of us and we need support and spreading awareness is the best way to do that!

 This is Daniella right after she was diagnosed with ROHHAD Syndrome.

Daniella's problems began at around the age of 2 1/2 - which she started aggressively looking for food.  Around Christmas 2010 Daniella fell seriously ill and couldn't walk.  After lots of testing they found she was going in to kidney failure and started dialysis....then after suffering heart failure her family feared they would lose her.

Doctors worked hard to find a diagnosis for her and she is doing much better today as she is monitored and cared for 24 hours a day.

We love you Daniella......


Please read Daniella's article in the The Scottish Sun newspaper. 

IVIG received - much needed

 On Tuesday we headed out to our other new hospital - Huntsman Cancer Institute in St. George.  This is where Haven will get her port flushed every 4 weeks and then every 6 weeks she will get her labs drawn and then every 8 weeks she will get IVIG.  So, we actually get a one month break and then we're in ever two weeks for a month....then another month break.  Then every few months she will head to SLC Primary Children's for a full run down of labs and check ups.

 Her room was very nice at this hospital.  It's bigger than my labor and delivery room and she had a private bathroom.  I was very surprised and happy.  She was very well taken care of.

 Here is Haven hanging out with the Child Life specialist.  He was great and they talked about everything.

 Haven's first time having a male nurse.  Jason was great...he was very willing to let Haven do her own flushing and everything.  Accessing the port was easy and she did very well.  She of course made sure he did everything the way her other nurse did it.

 Nap time.  I let her stay up watching Happy Feet Two the night before so she'd be nice and tired.  She fell asleep about 20 minutes in to the infusion of the IVIG.

 Oh....5 hours later we are done with the IVIG...now to do a flush of saline...wait 30 minutes...flush again and close up with Heparin.

 

 If you've worked with Haven you know she wants to do her own flushing, blood draws, and Heparin.  I was happy that Jason would let her since he'd never worked with her before.

She did extremely well.....at the end when the took the needle out they hit a small vein which caused blood to pour out everywhere.  When I say pour out it means I thought I was going to pass out seeing so much blood.  Haven, of course, was amazing.  She grabbed napkins and put pressure on it and just asked everyone to get her stuff to help.  Her nurse Jason was already on it...mom did not do so well and was not overjoyed at seeing so much blood come out of her child's chest.

My Haven is amazing...she constantly blows our minds and she is a true rockstar.  Love you Roo!!!!

Primary Children's Oncology visit

 Headed to SLC yesterday with the girls for Haven's appointment.  It's about a 600 mile round trip drive!!!

 During the drive Haven decided to take a nap and Rohnin decided to take a few bites in to Haven's orange.

 The view from the parking lot was breathtaking - so beautiful!

 Haven getting her weight and vitals done.

 Blood pressure was great.

 Working with her new nurse Tiffany.  She was showing Haven a new way to numb the port.  They have a cold spray that works instantly.....ultimately Haven decided to go with the cream and not try something new since it was her first time there.

 Prepping to access the port.  Haven was not happy that the needle was different looking but it was the same - 1" needle.

 Hoping the port still works....we flushed

 and flushed!  They have a medicine to unclog the port if needed....but after a few flushes...

 We were in business....what does that mean!?  NO SURGERY!  Yay.....Haven did amazing as usual.  We had lots of blood taken.  Some of the labs we checked were her IGG levels, prolactin, sodium, IGF-1, and CBC.  They of course checked other oncology labs but that's what I can remember. 

Her doctor was great...we really liked her.  She listened to both Haven and I. She had also read up on ROHHAD and knew about Haven.  She had the latest info from Hopkins on Haven that we had sent up to her. 

We did not receive chemo yesterday as we needed to get all of her labs done first.  I am to receive a phone call today with the results and she will have her chemo on Friday this week at Dixie Regional Hospital.  We got a prescription for numbing cream and for more DDAVP. 

 Haven wanted to do a few photos from the campus.  This is front of the Painted Horse.

 Haven the Gnome

 Being the bird

She is just too cute!!!!  She did amazing.....we are very proud of her.  Will update again after chemo on Friday!

Primary in SLC

Tomorrow we head to SLC to visit Haven's doctor at Primary Children's in SLC.  We're expecting a 5 hour drive up there , 3 - 4 hours for the appointment is what I have been told by the Oncology department, and then a 5 hour drive back home.  Considering we will most likely have to be up there for a few days for her surgery we will not be spending the night this time.  Plus we have a little doggie that needs us back home.  I have talked to them in Oncology and am still not able to bring Rohnin in with us.  Which makes all of this a lot more stressful - especially since Hopkins never said I couldn't bring Rohnin in.  The only place she couldn't go was isolation rooms.  Which Haven was out of by the time Rohnin was born.

We've been searching and trying to figure out what to do.  We've just never had this problem before and when dealing with new doctors and chemo and surgery we definitely don't need another stresser.  Luckily we have a most helpful neighbor.  Kris and I went over to talk to Tara about possibly helping with Deez on Tuesday and to our relief she said YES! :)

So Deez, who is obviously not used to the rough life, will stay at home and Tara will come over a couple times in the day to check on her and then feed her at dinner.  Thank you so much Tara!

Next our plan with Rohnin is that either Kris or I will stay out with her during the appointment.  Maybe take turns so we can both meet the doctor.  We might possibly be meeting another ROHHAD mom in SLC.  She has offered to help with Rohnin but I'm not sure Rohnin will be able to hang out with someone she doesn't know or has never seen.  So more than likely one of us will stay with her for the 3 - 4 hour appointment.

Never the less, this will be a very very long day!  Almost too long to think about.  We are hoping we can get all Haven's treatments moved down to St. George although it didn't sound like it when I spoke to SLC.  I just can't see doing this every 6 weeks.

Once we recover from the trip I will update as to what is going on and what our next steps are.

Random from September 2011

 Rohnin got to visit Haven's Oncology doctors in September.  We let them look but informed them they won't get to medicate this one!!!!  She had a lot of fun seeing lots of new faces.

 Here is Haven - proud of her port.

 Accessing her port.  Haven wears a mask so she doesn't see it happening.

 Sadly her favorite nurse that has been with her for 4 years was leaving.  This would be the last time Haven would see Katie as she was advancing her schooling and career from an Oncology nurse to a doctor!  We miss you Katie.

Just a random funny photo of Rohnin eating....

She honestly makes some of the funniest faces.

THANK YOU MATT'S HELPERS FOUNDATION!!!

 

http://mattshelperschildren.org/

HUGE THANK YOU TO MATT'S HELPERS FOUNDATION!!!!

They have been there for Haven and our family since our diagnosis in 2007.  We've never had to ask them for anything but they always seem to know what we need and when we need it.  From gifts for Haven to gas and grocery gift cards!!!!

YOU ARE ALL AMAZING!!!!

ROHHAD child wakes from coma after 38 days

Natalie is a ROHHAD child from Malaysia. We met her and her mother on Facebook and have come to know them very well when they joined our ROHHAD site. On April 26th Natalie fell in to a coma while at the hospital. We are extremely happy to report that Natalie has come out of the coma and is smiling. She has shown us the strength and will she has to fight this horrible syndrome.

We can't begin to tell everyone how happy and excited we are to see her photos and to know she has a huge smile on her face.

Lots of love to Natalie and her family - thank you for letting us in on your life.

Johns Hopkins / MIX 106.5 Radiothon

WOW!!! We got our card from Hopkins thanking us for being part of the 2011 Radiothon. We're so happy to be able to do this. We've met so many families being part of the Johns Hopkins family for almost 4 years.

You can check out all the 2011 kids - HERE.

Thank you to every one that donated and especially our Haven readers. Total Radiothon dollars raised this year was $850,000. WAY COOL!!!!!


Just in case you don't have time to click the link above and read about the Radiothon and how much it made I thought I'd share a snipit from Hopkins web site:

With support from the Children's Miracle Network (CMN), the MIX 106.5 Radiothon has raised more than $13.1 million since 1989 for Hopkins Children’s, with a record $1.1 million raised in 2008. Hopkins Children’s is a member of CMN, an organization dedicated to helping raise funds and awareness for 170 children's hospitals throughout North America.


Your donations are much appreciated!!!

Our ROHHAD world

While the world keeps turning out there in ROHHAD developments we have stayed on the quieter side lately. We know approximately 38 families now with a child with ROHHAD - ranging from early 20's to 3 years old. All very similar yet different symptoms. It's interesting to learn about each child because we are all hit with varying symptoms at different ages and stages.

We are heading back in to Oncology next week for another round of IVIG and then we are back in with Endocrine after that. I'm not sure where Haven's counts are at this point - I know we tried to extend her IVIG visits from every 6 weeks to every 12 weeks and that didn't work out very well. So we are still on the every 6 weeks schedule. There are two other important topics we are bringing to discuss - Haven's height/growth issues and finally breaking down to go in to meet with Kennedy Krieger Institute. They are internationally known and well respected in the medical community. We just never had the mental capacity to add more to our schedule when we were first asked to start going over 2 years ago. It's a lot of work to get an appointment and we should definitely take advantage of our doctors being able to get Haven in there.

Other than that Haven is doing well. She has excellent grades at school and is a good little helper. Her only issue is that she likes to be the boss.....we are working on that! ;) She is still doing her adaptive PE class to help with balance, core, and strength. She is learning to go up the stairs with both legs instead of just the right leg. We still have lots of issues with that, as well as, fear of getting in to a car. I know........it gives me a headache every time we have to get in a vehicle.

Well - I guess I haven't taken any photos in the past few weeks....at least not anything cool. Haven took this wonderful photo - I thought I'd share it. Can you guess what it is?


I would also like to invite everyone to read up on Haven's friends. I posted a note about Denika from Newfoundland in there and have another coming up about our wonderful friend in the UK - Jessica! You can find this site at: Friends Of Haven -- see below for a peek at Denika's story:


Denika is a beautiful girl we met almost 2 years ago now. Amazing to think back when first meeting and mentally review everything you have gone through together. She lives in Newfoundland and we have been friends pretty much since she was diagnosed. Her mom found me through Haven's web site. At the time she had just had the same surgery Haven did to remove her Ganglioneuroblastoma Tumor and was officially diagnosed with ROHHAD Syndrome. She then went on to Sick Kids in Toronto where I was contacted by an Endocrine doctor that wanted more information about my child. I put her in contact with our doctors immediately and asked them to help this little girl. Our doctors are so awesome they immediately took it on to work with her - they contacted me for permission to discuss Haven and off they went. Denika slowly began to follow Haven's treatments and what she had started with. Then suddenly Denika was found to have a second Ganglioneuroblastoma Tumor - this one in her chest. I couldn't believe it. Still Denika has battled on.........



Oh yea.....what was that picture? It is a picture of Deezy wearing Haven's headband....obviously the dog was in motion to run away! :)

Haven meets Sophia.......

Sophia was diagnosed shortly after Haven received her official diagnosis - although Haven's doctors were secretly figuring it out a year before! Finally almost 2 years later the girls get to meet! Thank you to Maureen for traveling down from Massachusetts.

We went out to dinner on Friday night - above is Mackenzie, Sophia, and Miss Haven! This picture definitely showed me how small my girl is - She is a year older than Sophia and about a foot shorter!

Mackenzie made Haven a beautiful note and they brought her way too many presents!!!

The next day they came over and enjoyed a day of Wii!

Hanging out at Haven's grandparent's house for the day!

Double sided hug.....Not sure Haven knew what to make the girls! :) They love to hug....

Trying hard to get my girl to goof around.....Sophia and Mackenzie are PROS!!!!! :)



Love it!!!

The girls had an awesome time and we really enjoyed them coming down for the weekend. Can't wait for the next visit this summer.....maybe I can even get up there some time!!! Love you guys - great visit!!!

New Children's Hospital at Johns Hopkins

READ ABOUT HAVEN ON THE RADIO STATION WEB SITE
AND
HEAR OUR WONDERFUL INTERVIEW

This photo was taken from the Mix106.5 morning crew Facebook page. I wish I could've gotten over to Hopkins to see them but Haven didn't have any appointments this week. If you live in MD and have been following along the radio station has been doing a 3 day radiothon at the hospital. They have spent lots of time with the kids in the Children's section and shared lots of stories with everyone. I started listening to this station when we moved her in 2007 and my first radiothon was in 2008 - only then I didn't pay attention because we were living at Hopkins at the time. Haven had just gone through a 14 hour surgery and was about to start a multiple type chemotherapy regiment for her cancer. Then we spent the next 2 full years living at Hopkins testing different chemos for ROHHAD until we finally figured out what was working.

I love the stories of the other children and it is true - you do become a family at Hopkins....not just a patient with a fast food number! And then sometimes when you've lived there as much as we have it becomes the norm and what used to be the norm isn't as comfortable anymore. A huge example was when we had to rush Haven in to the ER about two weeks ago. We realized that sitting there at her bedside while she was getting wired up and port accessed that we were feeling at home. As you can imagine - Haven's Oncologist is not happy that we feel this way and that's what he has worked so hard to get away from. He wants all of us out of the patient mind set....but after this long it's become our home.

We will probably forever live in MD and this is because we just can't imagine leaving Hopkins or Haven's doctors. We trust them with our daughter's life and you can't give anyone more trust than that.

RADIO INTERVIEW:

Above is the concept of the new Children's Hospital at Johns Hopkins! You can check out the rest at the Johns Hopkins web site by clicking the link and watching the video. I remember when we first started coming to Hopkins it was just a pile of metal.....we can't wait to see the new building and share it with all of you!

WHOO HOOO - Hopkins Caring for Kids

THANK YOU TO EVERYONE........PLEASE PASS THIS LINK ALONG SO MORE CAN DONATE....EVERY PENNY COUNTS! SO DON'T SAY IT'S NOT MUCH, WHEN IT'S HELPING CHILDREN, IT'S EVERYTHING!!!

JUST A NOTE AGAIN ---- THIS IS TAX DEDUCTIBLE AND YOU WILL GET AN EMAIL FOR THE IRS TO DEDUCT YOUR DONATION!!!


Check it out from Hopkins site!!!! I know the radiothon hasn't started yet but it's good to see our ranking!!