Endocrine Visit - June 20

On June 20th we took Haven in to meet with her Endocrine doctor - he was the doctor that saved her life by finding her cancer and diagnosing her with ROHHAD Syndrome.  My main concerns have been Haven's weight and height ratio and the fact that I knew she hadn't grown much over the past year.  I had a few emails back and forth with him over the six months we hadn't seen him.


Haven has maintain her 80 lbs since January 2009.  Her Hi CY treatment for ROHHAD stopped her weight gain and her stealing of food.  Immediately following Hi CY Haven jumped up about 3 inches in height - this was a make up from the year on steroids (which stops growth).  But since that initial jump Haven hasn't done much.

So our main discussion with him was regarding her growth and if she is deficient.  Growth Hormone Deficiency - is a disorder that involves the pituitary gland, which produces growth hormone and other hormones.  Growth hormone is necessary for normal growth and development in children.  Haven's last IGF-1 test was done in May while in Oncology.  This came back low.

Haven has grown about 1 1/2 inches in the past 18 months.

Growth hormone deficiency does more than just keep them from growing - it causes serious problems with the heart strength, lung capacity, bone density, immune system and more.

Her doctor ordered a bone age x-ray to be done and we are now waiting for the results of that to see where she is falling.

We asked about the growth hormone treatment that the ROHHAD children end up on due to the damage done this area.  Obviously there is not much research done since ROHHAD is extremely rare and not much has been written about it.  So we got some of the main concerns for Haven - which are what children on growth hormone are informed of.  These are a few but not all - and again there is no telling what it could do with a ROHHAD child and especially one that also had cancer:

1. Higher risk of cancer as an adult --- but with Haven already having cancer there is no research as to how this could affect a child like her 
2. Higher risk of adult diabetes
3. Shorter life span
4. Good possibility of required surgery due to Slipped Capital Femoral Epiphysis 
5. Possibility of thyroid issues requiring medication
6. Severe migraines

There is also an age limit to start this.  Haven MUST start it within the next 6 months or so or we could be too late.  You want to get all the time in before puberty hits or it becomes ineffective.  Considering Haven has an extremely high Prolactin level we don't see puberty hitting anytime soon. 

Growth hormone treatment is a five (5) year treatment and requires Haven to get a daily shot for the next five years.  She will undergo constant testing and monitoring for her bones and anything that could go wrong (as listed above). 

Before treatment she will go through a test requiring insulin to be given through IV to stimulate growth hormone secretion - this is measured over a 12 hour period.  Haven's doctor says he already knows Haven will fail this test but it is a required step that he must have data on before beginning her treatment.

As Haven's dad and I are still not in complete agreement about this treatment and her doctor doesn't like to just give this treatment (as it is abused by parents that just want their kids taller) we have agreed to the doctors desire to wait until December to start treatment.  UNLESS her bone age x-ray and insulin test tell us she needs to do it now.  Haven's doctor said for Haven to be on track she should grow 2 inches by December BUT considering she has only done 1 1/2 inches in 18 months he doesn't see this happening.

So for now we will continue to watch Haven's growth and will proceed with any testing needed. In December if she has not grown 2 inches she will begin growth hormone treatment for the next five years.  Her dad and I will be trained on how to give her the shots and dosage.  The next six months are very important for Haven and will require us to once again make a decision that leads her in to the unknown as an adult.

Asperger's Syndrome and Kennedy Krieger Institute

On June 2nd we spent the day with a NeuroPsychologist at Kennedy Krieger Institute.   KKI is an internationally recognized institution which helps children with developmental disabilities.  They have a high focus on brain, spinal cord and musculoskeletal related disorders.  We have been there a couple times before but have not met with this department.  This time we were sent over to have Haven evaluated for Asperger's Syndrome - an autism spectrum syndrome.  When we first started to try to diagnose Haven in 2006 we started with this syndrome (along with Prader-Willi Syndrome).  But we were told this was not her problem and that it was a problem with the parents. 

Asperger's Syndrome is an autism spectrum disorder.  Asperger's Syndrome is known for significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. Although not required for diagnosis, physical clumsiness and atypical use of language are usually part of the disorder. 

Haven worked with the doctor for over 6 hours.  She completed some testing in math, reading, and drawing.  She obviously was able to hold a very grown up conversation with the doctor - Haven has an amazing vocabulary.  She read and read to the doctor.  After all of her testing we met with the doctor and reviewed her findings.  She was most concerned with Haven's social skills and rigid personality.  We informed her about Haven's random lists - she loves to make lists.  She has notebooks full of dot coms (web sites that she is allowed to visit or wants to visit but can't).  Haven has to stick to a schedule - if the schedule changes without her knowing she tends to freak out and panic.  She still has issues with getting in to a car or discussing leaving the house.  She will do anything she can to stay home.  She also has "hoarder" tendencies that are very concerning.  Throwing away anything of hers - even paper - is a huge fight. 

So Haven will begin meeting with a psychologist regularly to hopefully overcome her anxieties and social issues.  She is also to start a social class with other girls her age that have been diagnosed with Asperger's Syndrome.

Haven is in mid-diagnosis I guess you could say.  She shows many of the signs of Asperger's Syndrome but due to the over-diagnosis of this disorder and the harm it could cause her health wise to be diagnosed with this we have decided not to diagnose her on paper yet.  Asperger's Syndrome shows many of the signs that ROHHAD also shows - this could be devastating for Haven.  It could cause us to dismiss a sign showing the doctors that her ROHHAD is progressing.  Ultimately dismissing an issue as autism but ultimately being an underlying new symptom in ROHHAD.  One of our doctors also feels this is a diagnosis that is being to freely given to children - like ADHD. 

The psychologist said there is medication....but we have already informed them 1.  we're not  big fans of psychology and the fact we were there after 2 years of being asked to go should be good and 2.  we don't medicate our child for something that is naturally part of her being.  So that is ruled out.  She isn't a normal child.....but then again what is normal for some is not normal to me!

Right now we are waiting on the new psychologist and will begin a scheduled routine with Haven while KKI works on some other areas that may be of help for Haven.  We had a good visit, a good skype follow-up, and will meet with KKI again in about a year.  Now on to the closer to home doctor! :)

Spring round of IVIG

After Grandma and Grandpa left we had a day of chemo.

Haven has started to not want to see the needle to go in to her chest. She uses a 1 inch needle and her numbing cream. Since doing her Hi CY she has begun to feel a little bit of pain. Not much but a slight amount....so she prefers to not see it now.

However, she is still able to do her own blood work and to flush her port.

Haven is usually awake for about 1 hour out of the 4 - 5 hours of chemo. She slept quite a bit during this round. We canceled her Physical Therapy this day as this usually wipes her out for 24 hours.

We met with her Oncologist and Haven is doing well. Her counts are up (finally) and instead of going every 4 weeks we have been moved to every 6 weeks for a flush (next visit June 27) and every 12 weeks for IVIG (so sometime in early August).

Haven is not scheduled for any more MRIs!!! Her doctors are very confident about her tumor not growing!

Next up is Kennedy Krieger Institute for Neuro-psychology evaluation and Endocrine.

Physical Therapy

Haven has done an AMAZING job at her physical therapy. She goes every Monday and Wednesday for one hour. Her therapist is great with her and Haven has grown really attached to her. Every visit they decide what color they are going to wear next. So they can match.



Haven had a goal to walk up the steps using her left leg without holding on to anything by July --- she accomplished that goal this week. She got to pick 3 stickers for the day.

Grandma and Grandpa visit from Utah

Grandma and Grandpa came out to visit Haven for about 5 days. Haven had a blast! Always fun when the grandparents come to visit. We let them take our baby girl out for a day of fun with no parents around. They snuck off to Broom's Bloom Dairy Farm. If you haven't had their fresh ice cream...you're missing out! It is FANTASTIC!!!


Then they took Haven out for a day of shopping...what does my girl pick???? A summer full of learning- lots of reading and math work books and prep to get ready for 2nd grade!

Haven and her Grandma! They did so many workbooks and we watched lots of HGTV! I didn't know we all loved that show. We watched so many house hunter episodes. We had a lot of fun.

Personal thank you to Grandma! I didn't have to touch a single dish for 5 days, every time I went to the kitchen they were clean. I didn't have to touch laundry - it kept magically appearing folded on my bed. I never had to make a plate of dinner - it kept appearing on the table in front of me! I was able to go to the movies and see grown up movies for almost 6 hours (we snuck two movies in) and was never worried about what was happening at home!

Shhhhh.....this picture is a surprise! Check back in a few days to see what it means! ;)

Oh and let's not forget my furry daughter.....Deezy says thank you for coming out and playing ball with me and loving me! :)

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.