Mason - Missouri

The other day I was so excited to get an email from Julie. She is Mason's mom. I wanted to share with you a little bit of Mason from her email.

Hi my name is Julie - Mason's mom.

Mason age 4, was diagnosed with ROHHAD in Aug. 2008. I have really been enjoying your blog and I appreciate you putting up Mason's picture.

I wanted to tell you I think Haven is adorable and I have showed her picture to Mason & he would like to meet her one day.

We are trying to get up to see Dr. Weese-Mayer in January '09 to hopefully learn more about ROHHAD. The doctors here in St. Louis do not know much about it. Mason was a healthy boy until he started gaining weight about 1 year ago and in Feb' 08 his eye started to turn out. We took him to the Dr and they said he just had strabismus and not to worry about the weight gain (it was not too much) 10 - 12 pounds in 1 year. Then in June of '08 he feel asleep at daycare & went into respiratory arrest. He spent 2 months in the hospital and was finally diagnosed with ROHHAD. They said he had to have a tracheotomy and has to sleep on a ventilator.

The picture above is from last weekend. Looks like he got to out to the bowling alley play a few games. I am so happy to be in contact with Julie. Mason is just adorable. There are so few of us affected by ROHHAD that when you finally find another amazing child it just takes over your world.

Haven was excited to see Mason's new picture. She is making a beautiful card for Mason and wants to send him a picture of her. She says they are going to be writing friends and maybe one day they can play together.

Keep in touch with us Mason!

Joshua - Texas

Hi Haven,

Your birthday - January 26th - is also my birthday. But I am a bit older than you. I was born January 26, 1973.

My son, Joshua - who is 12 - also has ROHHAD. But he does not (so far) have a tumor. He is checked for them each year now. He seemed completely normal (as far as we could tell) until he was 8 and a half years old. That is when he started being extra sleepy each day after school. He didn't feel like he could keep his eyes open - even enough to eat dinner or go to church (which he loved to do). Then he got a real high fever and collapsed when he got out of the bathtub (I had made him take a bath to try to help wake him up).We took Josh to an emergency clinic. The doctor there found out he didn't have enough oxygen in his blood. They put a mask on his face to help give him more oxygen and called an ambulance to take him to the hospital.

At the hospital, Josh stopped breathing (not right away - but hours after he got there). It happened suddenly and doctors tried to get a tube to go in his mouth and down his throat so a machine could breathe for him. They had a really hard time placing the tube and Josh nearly died. But finally, they got it right and saved him. He spent the next 2 weeks in the hospital. The doctors didn't know what had made him stop breathing - even after all those days in the hospital. They gave him steroids in an IV and he got stronger and they finally let him go home. (Alot of other stuff happened too - like he had stopped being able to move or feel his left arm and leg for a while and he also had a seizure - but those things got better along with the steroids.)

The doctors thought he was all better by a few months later. But he started having troubles again and had to go in another hospital for more tests and to have a machine breathe for him again. This time, he spent 6 weeks in the hospital. But before he got out, doctors decided it was best to put a tube in his throat that would more easily hook up to the breathing machine (ventilator). And they had him hook up to it everytime he was going to go to sleep (to make sure he didn't stop breathing again). That tube is called a trach because it goes through his neck into a place called the trachea (where air goes up and down from your mouth and nose to your lungs).

Now, Joshua also has some trouble with how his body deals with fluids. He also has to take growth hormones (with shots) 6 days a week. And he takes a small steroid pill every day. He has a hearing loss in both ears (only high pitch sounds - like s, th, ch sounds) and he wears hearing aids in both ears to school. And he has a special nurse who comes on the bus and rides with him to school. She stays with him all day and rides the bus back home with him, too. That is partly because Josh has to take his breathing machine with him and hook up almost all day long (doctors say he has to - even though he seems to be able to breathe ok on his own most of the time). His nurse helps him suction out stuff he might cough up in his trach tube and help him get around with his ventilator. She also helps remind him to drink because he gets so dried out but doesn't realize it. And, she checks his temperature and blood oxygen level and carbon dioxide levels in his blood to help make adjustments to his ventilator (how many breaths it gives him every minute - that kind of thing).

Josh sees all kinds of doctors, too. He has a regular pediatrician close to the house. He sees a lung doctor (pulmonologist), a heart doctor (cardiologist), a brain doctor (neurologist), a hormone specialist doctor (endocrinologist), and a cancer doctor (oncologist) who checks him for tumors like the one you have. All those doctors are in our area - but about a 30-45 minute drive across San Antonio from us. He has also gone to see a doctor in Chicago who has seen other kids with ROHHAD and a similar disorder called CCHS. We have only seen her (Dr. Debra Weese-Mayer) once. Then, we found out about some other doctors who might be able to help us in Houston (they are looking into the cause of the disorder and they also do some work putting a device inside the chest to help people breathe bigger without a ventilator). And Josh has even gone for a special MRI study at UCLA.

Well, I'd love to hear more about you and what you think about all your doctors and tests and all. I know you have been through a lot in the last couple of years.

Vanessa

PS You can see lots of pictures of us and read about us on several web pages:
http://www.vwootenworld.blogspot.com/
http://www.myspace.com/Vanessa1973

are just a couple of them

Sophia - Massachusettes

This morning I received a notice from the NORD web site on my ROHHAD post about Haven. Another beautiful angel was diagnosed with ROHHAD. I want to introduce her to the world. Everyone please meet Sophia!!! Isn't she just beautiful! She looks so much like my baby!

Sophia's mom, Maureen, contacted me as she has been trying to find out what was going on with Sophia for the past couple of years! Sound familiar - until everyone learns about this syndrome too many kids will go undiagnosed!!! Please read below about Sophia!

Thank you so much for getting in touch with me. my beautiful daughter is the youngest of six she just turned 4 in October. Right before she turned two she was a little bitty thing and it was overnight she gained tons of weight. stomach issues, and breathing issues which they diagnosed as asthma. They sent her to the owl program at children's hospital in Boston. The owl program is for children with weight issues, anyways the long nights awake, her sick every day has been so frustrating. Having people look at her and make rude comments. and finally. this past Monday 12/15 after two long years they give this diagnosis - ROHHAD. she has been fighting pneumonia for two weeks they just put her on steroids along with the meds she is already on - antibiotics her inhalers, meralax for the constipation. she has headaches all the time eye pain.

I am lost, they have set up and MRI for the 30th she will have to be asleep for that. they are also scheduling the Respiratory study they said this will have to be done before the MRI. I cant find much on this syndrome and I'm scared out of my mind.

I will send a picture of her I'm not very good on the computer so i will try and send one. Please that would be great if you add her to your blog. were do you live? thank you again Misty i cant wait to hear from you again.

As with Haven I started searching at the age of 2. Knowing something was wrong - gaining massive amounts of weight after being underweight for 2 years, constant stomach pains, constipation, eye problems until it turned out, breathing issues - EVERYTHING!!! I will pass along Sophia's information to all the other ROHHAD mom's that I know. We have our own support group going since there is nothing out there for us!!!

Please send your thoughts and prayers to all of these children - they definitely have a rough time ahead of them! We love you Sophia!!

Nikki - Australia

If you remember my post about ROHHAD children you will remember seeing a small blurb on Nikki B from Australia. Since then I have been in contact with her mom, Karen. I can't even explain what it's like to be able to connect and talk with all of these moms. I am so happy that everyone has reached out and are keeping in touch.

I have a few updates on Nikki. As of today, Nikki has been in the hospital for 16 weeks with the doctors still trying to figure out ROHHAD. Nikki is sometimes allowed home with her nurse for a couple hours in the week but usually her family has to visit her in the hospital. Currently the doctors have not given an exact date of when Nikki will be able to go home but they are saying POSSIBLY after the new year. Karen told me to day that Nikki will be allowed to come home for lunch on Christmas day so they are super busy getting the house and her room set up for her visit. They have also been working on Nikki's Christmas in the hospital and making angels to put all over her room.

I hope to soon get Nikki's complete ROHHAD story and will share it with all of you. Above is a picture of Nikki and her mom, Karen. Thank you so much for sending your photo to us!

Please keep Nikki in your thoughts and prayers and may she come home to her family soon!

Jenna - Connecticut

I would like to introduce everyone to our newest friend Jenna.

She lives in Connecticut. Her mother, Lisa, has spoken with our other friend Vanessa a few times but this is my first meeting with her. Jenna was diagnosed with ROHHAD Syndrome at the age of 4 years old. Jenna is now 7 years old. Jenna has endured multiple seizures lasting at least 45 minutes each time. Jenna's last seizure has left her unable to speak. Jenna has a trach in place and is on the ventilator 24 hours a day 7 days a week. During brief times when Jenna is strong she is able to get off the ventilator and play for about an hour. I am told these are Jenna's favorite times.

Jenna - you are a beautiful little girl and I am so happy your mom contacted me and sent me the photos of you. I was looking at this photo with Haven's dad and guess what -- you both have the same bear from Build-A-Bear!

We love you.

Leigh Ann - Kentucky

Who is this beautiful angel?

She is most definitely an angel that I am truly excited to tell the world about. This is a dedication to Leigh Ann from Kentucky.

Leigh Ann was born an only child via c-section on April 19, 1990. She weighed 9lbs and was 20 inches long. Leigh Ann was born a healthy, happy child with an amazing shine in her eyes. At around he age of 1 1/2 years old (January 1992) Leigh Ann began to show signs of Hypothalamic Dysfunction and rapid weight gain. In October 1992, she experienced her first Cardiorespiratory Arrest and at this time she had full blown UNDIAGNOSED ROHHAD. Leigh Ann stopped breathing while at day care and at the hospital she went in to code-blue.

Between birth and 1992 doctors failed to recognize any symptoms that her mom was telling them. Diagnosis: too much food.

In 1992, ROHHAD was not known at all. Doctors blamed her breathing problems on obesity and obstructive sleep apnea - they never checked for central Hypoventilation. Because nothing was known she went without proper breathing treatment for over a year. Leigh Ann's endocrinologist and pulmonologist did mention Hypothalamic Dysfunction but since her MRI of the brain was normal they dismissed this. Even though Leigh Ann had abnormal endocrine results - passed off as medication related.

Leigh Ann spent 3 weeks in the hospital when finally being discharged with: Medical problems caused by home environment. Diet should be 1,200 calories max a day. Her mom fed her less than 1,200 a day and she was STILL gaining weight.

November 1992, she was again air lifted to a hospital, this time Indiana, for respiratory problems. She spent 9 days in the hospital with the doctors repeating what the hospital said in Kentucky. They left with a C-PAP and oxygen for her to use to breathe.

Leigh Ann's parents were told to be patient that at some point a tumor should pop up on the MRI and then doctors will know what to do. THIS NEVER HAPPENED. All MRI's were still normal.

January 1993, Leigh Ann went in for a sleep study. At this time they were told she needed to have a Tracheotomy and the surgery was performed. Diagnosing Leigh Ann with Hypothalamic Dysfunction....but they said "There is something missing. Something we don't understand in ther sleep study results".

Still nothing known or mentioned about Central Hypoventilation or Central Apnea. But doctors said if Leigh Ann could lose weight she would be all better --- the parents kept trying.
By November 1993, the hospital in Indiana finally finds the Central Hypoventilation syndrome while being treated for Pneumonia. When Leigh Ann was finally diagnosed, she had undergone so much trauma and the delay of treatment caused further brain damage and neurological deficits.
November 1993 until February 1994 Leigh Ann remained in the hospital before being transferred to a neurological rehab hospital in Michigan.

April 1994, Leigh Ann returns back home from the Michigan hospital. By this time Leigh Ann had stopped growing. With her mom no longer working and dad always at work everything was extremely stressful and Leigh Ann needed everything they could give.

Leigh Ann began to have frequent seizures lasting 45 minutes at a time due to sodium levels being too high. Her Cortisol levels became a major issue during anesthesia, she had Tertiary Hypothyroidism #3 and elevated Prolactin levels. They battled this for YEARS!

In November 1997 she underwent Fundoplication surgery for vomiting. Leigh Ann had low body temperatures and spent time in the hospital for hypothermia, her behavior changes were drastic and made it difficult for her to stay connected to her ventilator.

Leigh Ann - 6 Years Old

Leigh Ann 7 1/2 Years Old

Leigh Ann was 40 inches tall and almost 8 years old when she passed away on February 19, 1998. At the time of her death she was finally diagnosed with Late-Onset Central Hypoventilation Syndrome/Hypothalamic Dysfunction --- now known as ROHHAD.

I have read Leigh Ann's story over and over. Her mom wrote to me in January - right before Haven's 5th birthday. I have cried and cried over this letter and the pictures are just beautiful.

Leigh Ann - I know you are up there. You are our Angel In The Sky and you are in our hearts. You were the first of us to have ROHHAD and I know you are watching our children and helping to guide us. We miss you terribly. I want you to know - everything you and your parents went through is not lost.....We are hearing your story and you are helping us teach doctors and people about ROHHAD.

All our love to you and all my love to your mom and dad. Take care and sweet kisses!