Memory Lane

I've been having a few issues lately - feeling like we've missed a few years of our baby girl's life. She's been stuck in hospitals for more than half her life. Today I started working on a memory book for her and going through the photos was hard. Everything was so normal.....at least for the first 2 years of almost 6 now.

Haven as a newborn. Every time her daddy changed her he would massage her legs. She loved it. She would stretch them out and point the toes up! She was so long and skinny....I kept wondering when she would have Michelin legs.

Her 1 year photos. I took her to Baby's R Us to get some stuff for her birthday and made an impromptu decision to spend too much money on photos. We bought the outfit right there and changed. Plop.....she was all smiles for the photos. She loved having her picture taken.

Age 2. Haven was so active. She'd run around like a crazy girl, dressing up and acting wild. Climbing the furniture and jumping on the couches. She rode this scooter around like crazy. This was a birthday present for her 2nd birthday. She immediately when out and rode around on it.

But that 2nd year turned horrible in July. This is Haven's 3rd birthday party. She had gained so much weight, became very reclusive and extra shy. She didn't know how to be around other children. She didn't want to play and became extremely OCD about everything. We started hospital visits over 6 months ago and at this point she was having lots of stomach pains and bleeding. This was the beginning of the sleep walking.

Age 4. Just a few weeks before this photo we had learned that she has cancer. She was scheduled for surgery immediately following her birthday. This was a very high stress time in our family. I cried when I cut Haven's hair - but I still have it saved. She had such beautiful blonde straight hair. Never did I know there was a tumor hidden in her abdomen and an extremely rare syndrome causing all of her issues.

Age 5. This was this year. She had just gotten off steroids she had been on for a year, cyclosporin, and had done 5 rounds of Rituxan. She was preparing for the most challenging year so far.

As age 6 approaches I can only wonder what is in store for our little baby.

Share Our Stories

HI Everyone.....

Over the past few years of writing Haven's blog we have made many new friends and Haven has a lot of fans out there. That means all of you know about ROHHAD and Neuroblastoma Cancer because you took the time to care for our child as if you really know her. I try to make her blog personal to you so you can connect to her and feel her happiness and sadness and pain and joy. She is precious to us and means the world to us.

As Haven is everything we have, there are more of us out there. More ROHHAD children have been diagnosed over the past year and more have come out to talk and share their stories with us.

I ask that you please check out the "Friends Of Haven" section and read about the children and share their stories. We can only gain recognition of this horrible disease with your help.

Thank you all for helping us take care of our baby and giving hope to all of the families.

ROHHADNET Syndrome

Rapid-Onset Obesity, Hypothalamic Dysfunction, Hypoventilation, Autonomic Dysregulation and Neural Tumor Syndrome

Whew....say that 1 time fast!!! Everytime I go to a new doctor I have to! Then I have to explain it and start at my pregnancy all the way through her first 5 years.

This is what Haven would be diagnosed with IF doctors agreed. There are articles on both and rebuttals on both. It really all depends on the "type" of doctors I think you meet with.

Our doctors believe in the ROHHADNET diagnosis over just ROHHAD. They believe all children with ROHHAD have had or have neural tumors. Some may be just so small you can't detect them - even with an MRI. Or maybe you've read that Neuroblastoma is one of the rare human malignancies known to demonstrate spontaneous regression. In this case you have a tumor, never know it, and by the time something else shows up the tumor is gone. If that's the case, you will never find a tumor.

So when we go in to a doctor I realized last week that I can't just say "Neuroblastoma" as a general diagnosis of her cancer. There are 3 types and it's important to know which type because "Ganglio" is the one known to be associated with ROHHAD. Pulmonary explained to me that this is a very important note and I shouldn't use Neuroblastoma in conjunction with ROHHAD.

So I felt this was an important part to share....as I dive deeper and deeper in to our medical world.

Meeting with Dr. Cooper

Today I had an afternoon meeting with Dr. Cooper, Haven's Pediatrician. We meet about every 6 weeks to review Haven, where she is and was. We go over any notes that I have and get them in order for the other doctors Haven visits.

We reviewed the notes from Cardiology and Pulmonary and what the doctors had written in their reports. I got my copies for my files. She said I could probably copy their upper notes to take with me to any new doctors so we do not have to go through it all over and over again! Good idea.

We're still waiting for anything from Cardiology. I mailed the halter back to them on Monday so I'm not sure when they would've received it.

We have a meeting with Endo on May 4th so we reviewed some medical info from Susannah's mom and thought it would be a good idea to mention to our Endo. Susannah just recovered from surgery for Cushing's Syndrome. Which Haven has been tested for a few times. She copied me on an email she sent to my favorite mom in Europe and a few areas caught my attention!

We are doing well on the Pulse Ox machine. We know how to use it and I am confident in the results now - after talking with Pulmonary earlier this week. I keep a detailed log of her stats throughout each night.

I discussed Chicago with Dr. Cooper today and it really helped to talk to her as she has no bias to go or not go. Kris and I discussed it tonight and I believe we have come to a decision. Kris will discuss it with Oncology tomorrow and then we will confirm what we are going to do. We have been thinking hard on this decision and I have been working with our case manager.

I found some of Haven's old records yesterday while digging through boxes. Some reason I feel like I already said this but don't remember. Anyway, we have her blood records from July 2006 and two of her MRI reports from 2007. So I will scan that in and email to all of her doctors.

Until the next doctor appointment tomorrow - that is today's update!

Love to all
M

Pulmonary, Oncology, Cardiology - Oh My!

Well we made it through. The past two days have been filled with lots of doctors and lots of talking!

PULMONARY:

We were very happy with this appointment. I really like our doctor. He listened to everything, explained the difference between obstructive sleep apnea vs. central hypoventilation and how they see it in a sleep study, he had talked to Oncology before meeting with us so he already knew about Haven and pulled up her records while we were in there. It was great. We spent over an hour with him.

A few areas discussed:

Haven's breathing and where she is right now: he noted that her sleep studies were pretty good right now and that we would continue to monitor her closely for any changes. He said her last sleep study showed her highest CO2 level at 49 and when she starts to pass 50 is where the concern would be. We have a sleep study scheduled for August 15th and a follow up appointment with him on July 23rd.

He did say he didn't expect Haven would suddenly stop breathing in the next month or even the next 6 months but then reminded us that he can never say that for certainty because we don't know how ROHHAD acts in every child. At most, he said she would probably only need to go on a bi-pap machine in the next 6 months but didn't think we should worry about that yet.

He mentioned bringing Neurology in now to monitor possible seizure activity during her next sleep study. Doesn't mean she is going to have a seizure but Haven has a history and since this hasn't been monitored in over a year he would like another record of her brain in that department.

He is a bit concerned with her sleep walking and talking. More for her safety than anything plus we were sure to explain to him that although her sleep walking drives us crazy and doesn't let us sleep - it also comforts us because if she's screaming and talking we know she's breathing.

He ordered a pulse oximeter for Haven to use at night while sleeping. They said it would be set to alarm if she reaches 94....I am sure we will hear many alarms as Haven is usually around 95-96 and a little drop will cause an alarm. Kris received a call tonight about the delivery! I did briefly discuss her sleep walking and machines but he was not worried. We will have to spot check her stats - we'll have different times at night that we will have to record them.

We discussed her ABG results that were done while under anesthesia. He is almost discounting them because the readings would be altered by the intubation and oxygen given to her. So we will have to have an ABG test while awake. We did not do this today - as he wanted Haven to meet him first without pokes and it hurts a lot.

He is highly recommending us to go to Chicago to meet with Dr. Weese-Mayer. He said he has talked to her and discussed Haven. Oncology has also talked with her about Haven. He is concerned that there could be something they are missing and wants to have a full evaluation done by Dr. Weese-Mayer and then get the results back here. He also would like to have Haven's full studies in the research paperwork to help other children with ROHHAD. I have emailed the team at RUSH (thank you Julie for all the paperwork). We'll discuss this with Oncology next week.

We discussed Haven's allergy to Ketamine. He absolutely doesn't believe it's specifically Ketamine related. He told us that a ROHHAD episode (Respiratory Failure) can easily be triggered by ANY anesthesia. Haven must be required to be intubated without question at any procedure done. He told us to make sure when she does have anesthesia that we require them to monitor her CO2 levels while giving her oxygen. He said CO2 levels can rise dangerously if not monitored at the same time in a ROHHAD child. We have agreed to have her intubated on every anesthesia procedure due to her seizure activities and respiratory failure a few times while under anesthesia.

The funniest thing we heard: he said he bets that Haven can stay under water for a couple of minutes and have no problem at all. She lacks the function of panic that would tell her she needs to get to the surface to breathe. She can withstand a high level of CO2 - which a normal person can not and they would rush to the surface. We didn't take him up on the bet!


ONCOLOGY:

We went to Oncology following Pulmonary. Haven needed to have her levels and blood work done. When we met with Cardiology yesterday he wanted to have her tested for Anemia. So this was done today as well. We will not have results back until next week. Everything went as planned here.

Child Life talked to us about Sunrise Camp for Kids with Cancer. So we are going to sign Haven up in the 5 year old camp. It's a daily camp (she doesn't stay over). It's only for kids with Cancer. There are Pediatric Oncologists and Oncology nurses on site. Our own Nurse Katie volunteers at the camp and Kim at Child Life is there. We think it will be really good for Haven. It's free for her to go and she will have a blast doing crafts. This will be in August.

CARDIOLOGY

Next we went over to Pediatric Cardiology to get Haven hooked up on her holter. We are monitoring her heart rate. She runs high so the doctor said he would like to see her have fluctuations and get down in to the 80's during sleep. We will get the results from him next week. He doesn't want to put her on medication because she is already on so much. He wants to have an Echocardiogram done every 4 - 6 months to monitor her.


Here is Miss Haven with the heart monitor on. She was happy it was in a little purse. We were worried it was going to be too big but they said this is the size everyone gets. The monitor is in the little bag and it hangs around her neck. She has to sleep and everything with it on.

Here are a few of the leads. These are on her upper chest. There are more that are up on the side of her neck and all on her belly area. She is doing pretty well but she keeps saying the tape is pulling. Luckily we don't have a hairy chest to worry about. She is definitely concerned about taking all of them off.

She is always concerned about someone putting something sticky on her port and messing it up. So she always tells nurses and doctors not to touch her port and to make sure stickies don't get on it. Luckily - we didn't have to have any there.

Well, this is long but it's been a long day. I'm going on my 4th day straight of a constant migraine. I hope Haven sleeps tonight. And I'm super excited it's Friday tomorrow and NO DOCTORS!!!!

Love to all!

Cardiology

Tomorrow will be our first meeting with Cardiology. I'm not sure what will be discussed or how we will begin bringing them in to the mix of Haven. But I have been concerned about her heart so I'm sure it will be a good meeting. Our appt is at 8:15am so it will be an early leave to get through traffic.

I'll update if we have anything to report.

If you look to the right sidebar - I have slowly been updating and organizing blog posts. As you can see it is now giving me more work to do but easier to keep updates on everyone, news about our illnesses, and cool stories from our friends. I have a lot more work to do and will continue to update each one.

thank you to everyone for always checking up on our baby!

Letter about ROHHAD

I'm sure many of you don't read the comments written by others to Haven's site. But I found this one from Vicki - Leigh Ann's mother - very important. I would like to share this with everyone.

Misty,

It is good that you have doctors at John Hopkins who are concerned for Haven. A doctor who listens and believes the parents about the symptoms of their ROHHAD child is very important.

The first pediatrician for Leigh Ann would not listen or believe me. I quit him after Leigh Ann returned home in Oct. 1992 from the children's hospital in KY. In Nov. 1992 I changed to an Evansville, IN pediatricain who was located 8 miles from our home. This pediatrician was open-minded and he would listen and believe me.The Evansville, IN pediatricain is the one who diagnosed Leigh Ann with LO-CHS/HD now called ROHHAD in Nov. 1993. He then sent her by air life-flight back to the children's hospital in IN. This children's hospital was 200 miles from our home.

Leigh Ann had been a patient in this hospital several times since Nov. 1992. Also we had made several trips for clinic visits at this children's hospital. But they had failed to diagnose LO-CHS/HD. The Evansville doctor had a very difficult time trying to convince the doctors at the children's hospital that Leigh Ann had LO-CHS/HD.

In Feb. 1994 the doctors wanted to transfer Leign Ann to a rehab hospital that used their doctors. But due to the problems we had experienced at this hospital, I had Leigh Ann transferred to a neurological rehab hospital in Michigan. There were good doctors at the rehab in Michigan who had a better understanding about LO-CHS/HD. Because of the problems with the children's hospital in IN, we started taking Leigh Ann to Vanderbilt in Nashville, TN. The local pediatrician in Evansville, IN asked the help of the Vanderbilt endocrinologist to explain LO-CHS/HD and to assist the other Vanderbilt doctors with understanding LO-CHS/HD.

The Vanderbilt endocrinologist had started Leigh Ann on growth hormone shots just prior to her death. She was treating Leigh Ann for her SIADH problem as well as other endocrine problems related to what is now known as ROHHAD.

All ROHHAD patients need caring doctors. An over-confident doctor who thinks ROHHAD symptoms is only a problem of too many calories can do more damage than good for the child.

There is still more knowledge that needs to be learned about ROHHAD and its treatment. However, it seems to me that at least Haven's doctors are trying and care about her.

Love & Prayers, Vicki

The Kuwait Medical Journal - CCHS or LO-CHS/HD or ROHHAD

YES I SENT AN EMAIL TO THE DOCTOR AND HOSPITAL - IF THEY READ IT, GREAT!
My expert diagnosis - ROHHAD not LO-CHS/HD....but that's my opinion. You can read the entire article HERE.

December 2007

THE KUWAIT MEDICAL JOURNAL
Case Report

Late Onset Central Hypoventilation Syndrome with Hypothalamic Dysfunction in a Kuwaiti Girl

Othman A Aboushanab, Saad A Alotaibi, Yasser A Shaalan
Department of Pediatrics, Farwaniya Hospital, Kuwait

Kuwait Medical Journal 2007, 39 (4): 376-378

ABSTRACT
Late onset central hypoventilation syndrome (LO-CHS) is now considered a well-established disease that develops in previously normal children after infancy and has been regarded as a distinct entity from the congenital central hypoventilation syndrome (CCHS). Both conditions are associated with neural crest tumours, but hypothalamic dysfunction (HD) is a feature of LO-CHS and not CCHS. We report a case of LO-CHS with HD (LO-CHS / HD) who presented in respiratory failure at the age of five years.

INTRODUCTION
Congenital central hypoventilation syndrome (CCHS) is characterized by abnormal autonomic control of breathing that results in severe hypoventilation occurring initially during sleep. It was first described in children by Mellins et al in 1970[1]. In most cases the onset of CCHS occurs in the neonatal period or during the early months of life[2]. A form of LO-CHS has been described in the literature. Katz et al[3] proposed that late onset central hypoventilation syndrome associated with hypothalamic dysfunction (LO-CHS/HD) is a distinct clinical syndrome. Both CCHS and LO-CHS have been associated with neural crest tumours and they generally occur in a histologically normal central nervous system (CNS). Both conditions have also been associated with PHOX2B gene mutation[4]. HD has been frequently associated with LO-CSH but not CCHS. We report on a case of LO-CSH/HD presenting in a five year-old Kuwaiti girl.

CASE REPORT
This Kuwaiti girl was five years old when she was first admitted to our pediatric department in coma, with marked hypoxemia and respiratory failure. She was successfully resuscitated and transferred to ICU for mechanical ventilation. Initial blood gas showed acute on top of chronic respiratory acidosis.

ROHHAD and RARE DISEASE DAY

Just wanted to remind everyone - this Saturday, February 28th is Rare Disease Day.

RARE DISEASE DAY is not only in the USA. There are events planned all around the world. Check out the web site and check out your location. UK starts on the 25th!

While I am constantly researching ROHHAD and Ganglioneuroblastoma Cancer I sometimes run across new sites that I have never seen before. Mainly because they have my daughter's name in them or they list something relating to ROHHAD. About a week ago I found Little Miss Hannah's web site. Hannah is 6 months old and is fighting Gaucher’s Disease Type 2 or 3. Since her mom shared Haven's link to bring awareness to Haven's rare disease I wanted to share with you Hannah's link.

I would like to thank some other brave women who have emailed or sent me letters about their child's stuggle with ROHHAD. Although they are worried that it may push me to lose all hope to hear their stories I am overjoyed to hear from these moms.

Although some doctors want to make this disease be our fault and accuse of us causing this disease we have to be strong in knowing we did nothing as parents to make this happen. We all have the same story from our child's birth. I am reading your letters and everything is like deja vu - I'm sure all of you feel the same when I send you Haven's story.

For 2 years we were told it was our fault and we were overfeeding our child and we were doing everything wrong. I have been angry for 3 years now and even when I tell myself I'm not going to be angry anymore I am. ROHHAD SUCKS! It's horrible....I hate it. No one understands it and it seems like you are alone. None of us have slept in years due to worry about our children. We all pretend to go on like everything is normal....but when I take my daughter shopping for clothes I am reminded it is not normal.

People stare and believe it or not, people say stuff. People come up and say stuff about how our children are fat and that we should be ashamed of ourselves as parents and how we are ruining our child's life. I'm sorry but I want to go insane on these people but out of respect for my daughter I keep it as civilized as I can. I can't promise that I'm always civilized. I know all of us as parents with ROHHAD children are going through this. AND I shouldn't have to lock my daughter in her house so she won't be stared at by ADULTS! Anyway, I hear all of you and I completely understand what all of you are going through...we just have to be there for each other.

I took Haven shopping Saturday to buy some new clothes - as she has again grown out of everything we bought only a couple of months ago. She didn't want to try anything on - she didn't even really care to look at the clothes. She told me "I don't know why we come shopping - nothing fits me". This is extremely difficult for me to hear and even more for her. I don't know what to do here. She's 5 years old and wears a size 12/14 shirt.

April 1st Haven's doctors meet with the medical board again about her ROHHAD and where to go. Until then I will be working on some reports and charts for the doctors to take with them. I am collecting data from all of the mom's I talk to. I have a few that do not want their name or daughter's names used - and that is fine. They are still sending me all the info I need to make my report.

Some day there will be a treatment and cure for ROHHAD.

All our love to our wonderful friends fighting ROHHAD:

Mason Byrom



Joshua Wooten


Sophia Adamo

ROHHAD or ROHHADNET

Well this would depend on who or what side of the globe you are talking about. I have been doing hours and hours of research this weekend. I've had 2 lap tops in front of me almost all weekend! I have a lot of stuff to share and I have made comparison spreadsheets, charts and I have my very own dictionary of medical terms often used with discussing ROHHAD.

What is ROHHAD? Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation Presenting in Childhood

What is ROHHADNET? Rapid-Onset Obesity With Hypothalamic Dysfunction, Hypoventilation, Autonomic Dysregulation and Neural Tumor Presenting in Childhood

It seems as though, from my readings, that Europe is proposing to add "NET" on the end for those cases who have Neural Tumors. If this were made official - this is the syndrome Haven would be officially documented as having. USA is rejecting the addition of "NET" as they believe the acronym is already long enough and the neural tumor is almost always assumed.

I will share a comparison of Haven vs. 15 ROHHAD patients from Chicago. It shows what symptoms they have vs what Haven has. It also compares the age of these 15 when symptoms occurred and as we know I have been trying to figure out what has been going on with Haven since age 2 years and 4 months.

PS: It's about to get techy!