Tuesday, December 9, 2014

Turner Syndrome

So, this page is usually used to update everyone on the status of my husband's stage 4 melanoma.  Today, I am using the blog to update everyone on my 13 year old daughter, Sadie's new diagnoses.

In June of this year, Sadie went to her primary pediatrician for a well child visit to get a form filled out for camp.  Her pediatrician, Dr. Aisha Chaudhary with Bay Area Pediatrics was concerned because Sadie's percentile in height had dropped from the 50-60th percentile that it had been most/all of her life to suddenly in the 2nd percentile.  Dr. Chaudhary said she was going to run some tests, especially to look for something wrong with her thyroid as thyroid problems could cause a decline in growth.  I asked her to also check her for a genetic mutation that I carry to see if Sadie also had it.  Test results showed Sadie to be hypothyroid and also she tested homozygous (a copy from mom and dad) for the MTHFR c677t mutation.  Because of these two issues, she referred Sadie to a pediatric endocrinologist and also a genetic doctor.

After meeting with the endocrinologist, he re-ran the thyroid labs and said her results were normal.  We talked to the genetics doctor and he was also concerned with her height.  Based on the height of her father and myself, she should be about 5'3".  He said he was going to run one test.  He said it was unlikely that it would come back abnormal, but was worth checking.

That appointment was in late October.  To be quite honest, I am usually VERY impatient for ANY type of test results, but I honestly forgot about these.  I forgot about them until last Monday, December 1, 2014.  About 6:30 pm her genetics doctor called me and said he wanted to discuss the lab results.  I knew that obviously he didn't call because they were normal!  He made an appointment for me us to come in on December 9th to discuss in detail the results.  There was nooooo way he was getting off the phone without giving me more information.  He gave me very little details but mentioned "Turner Syndrome".  That was enough for me.  I got off the phone and immediately went a Googling! BAD!  Within 30 seconds I was in tears.  The one thing I read on every page was that girls with Turner Syndrome are infertile.  How in the world would I tell my 13 year old daughter that she can not have a baby?!?  How can she comprehend this information?  Fine, I won't tell her till she is 18 or 19!!  Wait, I can't withhold this information from her!!!  These thoughts all crossed my mind in the matter of seconds.

Thankfully, I had my monthly Bunco group at 7.  I was thankful these ladies let me spill everything to them and get out some more tears.  I spent the next week researching Turner Syndrome, joining Facebook support groups, asking questions, etc.

Here are some things I learned......

What is Turner Syndrome?  Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common. The ovaries develop normally at first, but egg cells (oocytes) usually die prematurely and most ovarian tissue degenerates before birth. Many affected girls do not undergo puberty unless they receive hormone therapy, and most are unable to conceive (infertile). A small percentage of females with Turner syndrome retain normal ovarian function through young adulthood.

Turner syndrome, a condition that affects only girls and women, results when a sex chromosome (the X chromosome) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure to start puberty, infertility, heart defects, certain learning disabilities and social adjustment problems.
Turner syndrome may be diagnosed before birth (prenatal), during infancy or in early childhood. Occasionally the diagnosis is delayed until the teen or young adult years in those who have mild signs and symptoms of Turner syndrome.
Nearly all girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Regular checkups and appropriate care can help most girls and women lead relatively healthy, independent lives.

How Common is Turner Syndrome?   This condition occurs in about 1 in 2,500 newborn girls worldwide, but it is much more common among pregnancies that do not survive to term (miscarriages and stillbirths).  About 99% on women who are pregnant with a baby with Turner Syndrome miscarry or deliver a still born baby. 

Today we saw the doctor to get more information.  Set up future appointments and to share the information with Sadie.  All things considered, Sadie has taken things pretty well.  We have discussed other avenues of "having a baby" (adoption, fostering, donated egg, etc.) 

In a nutshell, humans have 23 pairs of chromosomes.  Most females are born with 23 pairs of "XX" chromosomes.  Females with Turner Syndrome have either 23 sets of only 1"X" chromosome (monosomy Turner Syndrome), 1 full set of "X" chromosomes and some "XX" chromosomes, and even more rare, 1 full set of "X" chromosomes and some "XXX" chromosomes.

When we do it, we do it big!!!  Sadie of course has the most rare form.  67% of her chromosomes only have 1 X and the other 33% have 3 X's.  This is called mosaic Turner Syndrome.  45,X/47,XXX monosomy X mosaic with triple X chromosome complement - to be exact.  While this form is the most rare, this form seems to have less complications (no visable features other than short stature, a small chance of conceiving, less heart problems, etc.)

Sadie had a bone age study today to see if her bones were already fused or if there was still time for her to grow.  If there was time for her to grow, she would be able to take human growth hormone to hopefully grow another inch or two (she is currently 4' 8").  Unfortunately, her doctor called this evening and her bones have already fused so she will not be able to take human growth hormone.  She is 99% most likely finished growing on her own so will stay 4' 8".

Common risks are hypothyroidism, heart abnormalities, kidney abnormalities, and infertility.

Sadie has upcoming appointments with her new endocrinologist, her new cardiologist, more blood work, a MRI of her heart, an ultrasound of her kidneys, and a pelvic ultrasound.  We will hopefully have a better picture of future issues after these appointments and tests, although she will have to be monitored several times a year even if there are no current issues. 

Wednesday, September 24, 2014

Graduation Day!!!

Yesterday Steve had his 3 month scans.  His doctor, Dr. Patrick Hwu, chose to switch from CT scans to PET scans.  This was the first PET scan Steve had since his diagnoses in 2012.  Read here about the difference between PET and CT scans.

Waiting on the news!!

Steve celebrated one year NED (No Evidence of Disease) on September 16, 2014.  So, between having a different type of scan and just celebrating 1 year NED, we felt we might be a little jinxed.  But thankfully, as soon as we were brought back to a room we were greeted and let know that the scans were good.  NED!  No Evidence of Disease!!! One year and 8 days (who's counting???)!!!


We waited for the dermatologist to come in.  Steve doesn't leave without 1 or 2 biopsies, it's pretty much a given.  Luckily for Steve it was only one biopsy this time.  The biopsy needed an 8mm punch.  We should hear the results in the next 5 business days.  I suspect that it will just be dysplatic nevus as in the past, but we will see.

The hole...

The biopsied skin....

Pretty stitching......

About 3 weeks ago I had to take Steve to the ER due to what seemed to be an allergic reaction to something.  He had welts and lots of itching.  They gave him steroids and benadryl through IV and also a prescription for home.  Although most of it has cleared up, Steve has still been having welts/red swollen areas anywhere he scratches.  After talking with the dermatologists and also after his skin reacting/swelling to the pen they circled his biospy with, they diagnosed him with dermatographism.  This is not very well understood and the cause is unknown.  Only 4-5% of people will experience this. Who knows?  Was it prior treatment?  An allergy to something?  Stress?  The world will NEVER know!!
Swollen skin under pen marking.

Swollen skin after scratching.

When Dr. Hwu came in, we already knew that the PET scan and MRI showed No Evidence of Disease.  Dr. Hwu said that he is really, really impressed with Steve's body's response to Yervoy.  He said that every single time that Steve comes in and shows No Evidence of Disease, the risk of recurrence decreases.  Today was also graduation day, Dr. Hwu also graduated Steve from scans every 3 months to scans every 4 months!!  Not only does this count down on time missed from work, one less scanxiety per year, but also less RAD counts per year. 
NED ~ Celebrate LIFE!


Steve, Me and our girls celebrated with dinner out tonight.  - Shhhh, for all those that know that I don't cook usually anyhow ;) 

Wednesday, July 2, 2014

Long time no blog?!?!

It's been a very busy last few months in the Martin household. Thankfully we have been living "normal" lives and have had no personal melanoma issues come up.  Unfortunately, several of our friends are struggling with melanoma.  This has been extremely hard for me to juggle.  While I am elated that Steve is doing well and continues to be "NED" (No Evidence of Disease), I can't help but weep for those that we have lost, are losing and are struggling.  Sometimes I find the easiest way to deal with the struggle of emotions is to just back away.  Then I realize that we have so much to offer (hope, knowledge, experience, etc.) that it is not really fair to back away.  I just have to find better ways to juggle my emotions.  

Here is a bit about what has been going on with us for the past 3 months.....

In May, Steven and I were invited by GSK (Glasko Smith Kline) to their Philadelphia headquarters to attend a Bloggers Summit along with a few of our melanoma blogging peers.  This was the first year for this event and I hope they continue it in the future.  I took great pleasure in the fact that "Big Pharma" wanted to talk to bloggers, patients, caregivers, melanoma foundations, etc. about our experiences and our thoughts on what they could do to help "us".  We talked in great detail with suggestions on what we felt was missing in the melanoma world in terms of awareness.  While Steve and I were there, we also did a short on camera interview that GSK will use in the future for melanoma awareness.  I feel like GSK will definitely do their part to help our community raise more awareness.  Which avenue will they choose to use?  I don't know and honestly it doesn't matter.  I applaud their efforts to help battle the beast!!

Steve and I outside GSK Philly offices

Mingling before lunch and the meeting

Melanoma Ribbon Cake

Blogger Summit Roll Call

Jamey Millar, VP GSK Oncology Business Unit

GSK Oncology Pledge
Group photo from the Bloggers Summit

The Bloggers Summit also gave us the unique opportunity to meet several of our melanoma peers in person for the first time.  These are many people that we have built relationships with over the last 2 1/2 years but have never been able to meet in person.  What an incredible experience!!! 
Meeting my dear friend, Martha for the first time!

Drinks with Steve, Martha and Rich

TJ, Martha, Rich, Melanoma Research Alliance, Melanoma Research Foundation

Dinner - Rich, Martha, TJ, Me and Steve

Me and TJ

Me and Rich

Me and Martha....sad to say goodbye :(
In June, Steve and I were invited to attend an event in Atlanta hosted my BMS (Bristol-Myers Squibb).  Another "Big Pharma" wanting to talk to the melanoma community to get ideas on awareness.  Big stuff!  Unfortunately, the event was to be held on the same date as Steve's 3 month results and we didn't want to reschedule all of his scans and appointments so we had to decline.  After learning that Steve is 9 months NED from Yervoy (who BMS is the developer of), they expressed interest in bringing us in in a few months to do some promotional videos for them/Yervoy.  We would love to do that, so hopefully we hear back from them.

Wednesday, June 25th, Steve and I headed to MD Anderson for his 3 month results (he had scans that prior Sunday).  We were so happy to hear he is still no evidence of disease!!!  Steve had 2 biopsies while he was there.  One on the back of his left arm and one on the right side of his upper back.  Steve got the call on Friday that both of these were clear of melanoma.  I believe they said one was atypical and the other was fine.  So, good news there too!  This was not our first time to meet Steve's new melanoma specialist, Dr. Patrick Hwu (he was on rounds several times while Steve was inpatient); however, this was our first time to meet with him in a regular clinical situation.  Dr. Hwu was just as kind, compassionate and amazing as we remembered.  Dr. Hwu seemed confident that Steve is a complete responder to Yervoy.  Dr. Hwu is very highly regarded in melanoma research.  He said that most people that are NED this long after completion of Yervoy go on to be NED for many, many, many years.  He discussed the future of Steve's appointments.  He would like to move from CT scans to PET scans.  He talked about moving to 4 month visits once Steve is 2 years NED, then 6 month appointments when he is 5 years NED and eventually moving to annual appointments.  While talking about all of these "future" accomplishments seems so surreal, the fact of the matter is, it COULD be our reality!  Dr. Hwu seems confident, and he is one of the most knowledgeable melanoma professionals.  So, his confidence gives me hope!  Dr. Hwu also went into great detail with Steve about keeping his immune system healthy.....meditation, more sleep, less drinking, exercising, better diet, less stress, etc.  Yervoy is immunotherapy.  It basically restarts your immune system to allow your immune system to fight the melanoma.  So, part of letting the Yervoy continue to work is by letting his immune system continue to work and be at it's best.  It's definitely a work in progress ;) 

Back of left arm

Upper right back

Arm biopsy

Back Biopsy

We will be back to see Dr. Hwu in September for the next 3 month scans.  I hope you don't hear from me until then :)  Although I do plan to try and blog more about melanoma awareness, issues, etc.

We got to meet up with Kathy, Judy and Ken while at MD Anderson.....love them!!!

Steve and I celebrating NED (after my Zumba class!)

Please pray, think positive thoughts, send your love, etc. to my dear friend Kara who is fighting for her life right now.  Also, do the same for my friend Brandi who is fighting to get tumors under control in order to get into a trial. 

My sweet friend, Kara and her family

My dear friend, Brandi and her family

GSK reimbursed my travel and expenses to attend the GSK Melanoma Summit, however, I was not asked to promote GSK or its medicines.  This post is voluntary, represents my own views and I was not paid to write it.***

Thursday, April 3, 2014

No Evidence of Disease!!!

I apologize to those who only follow through the blog, that I am just getting the latest update up.  Steve had his appointments at MD Anderson on Monday and scans all showed that he is NED (No Evidence of Disease) still!  We are both so thrilled!!!!

We stayed the weekend at The Rotary House that is attached to MD Anderson since Steve's appointments were so early Sunday and Monday morning.  After his appointments on Sunday, we relaxed in the room for a bit and then had crawfish for dinner at Sam's Boat.

The Rotary House

Being silly waiting for the car.

Monday, Steve had a full day.  Luckily the appointment with Dr. Kim was first, so we got the NED news right away.  It was a bittersweet appointment.  Dr. Kim is leaving MD Anderson and going to San Francisco to work.  This was our last visit with Dr. Kim.  We have been sooooo happy with Dr. Kim's care, his personality, his knowledge, just everything about him.  We are going to miss him so much!  Steve has now been assigned to Dr. Patrick Hwu.  Dr. Hwu is one of the top melanoma specialists in the world.  We are so happy to have gotten assigned to Dr. Hwu and have no doubts we will receive the same quality care we received from Dr. Kim. 

Busy Schedule

Steve and me with Dr. Kevin Kim

Steve and Dr. Kim
No news is good news.  I hope I don't have to update again until 3 months from now!!!

Sunday, March 30, 2014

Tomororw is the big day......

Steve had a CT scan and an MRI today.  He will get the results tomorrow.  We goofed off last night and today after his scans.  It's a strange life we live.  We could be given the worse news ever tomorrow, or we could continue to live our lives with Steve NED (no evidence of disease).  The longer Steve is NED, the "easier" scans seem to be.....the less "scanxiety" there seems to be.  But, there really is no "tricking" ourselves.  We know that just because things have been going well doesn't mean they will continue in that direction.  It's a fine balance between optimism, realism and fantasy land.  But, until we are given other news, we choose optimism.  We are optimistic that the scans will come back ok and Steve will continue to be NED, but in reality we know that things can change in the blink of an eye.  Melanoma is so very aggressive.  So, we have to live in reality as well.

Being goofy.....

Being goofy......

Being goofy.....

Honestly, we have been thinking so little about Steve and thinking of so many around us.  In February we mourned the one year loss of our sweet friend, Jennifer.  My friends Melissa and Sylvia both lost their spouses within the last few weeks.  And, most recently, my friend Kara had surgery on a bleeding brain tumor.  It's been a tough, tough last few weeks in the melanoma community and honestly, that's where our minds have been.

We miss you, Jenn!!

Get well, Kara!!!!

Not only does Steve get scan results tomorrow, but we also say "goodbye" to his doctor, Dr. Kevin Kim.  Steve has been with Dr. Kim since 2012 (when he was diagnosed with stage 4 melanoma).  Dr. Kim and his staff have been amazing.  Dr. Kim is moving to California to practice there.  There will be many, many, many tears shed tomorrow!!!  Regardless of Steve's scan results, tomorrow is going to be a VERY, VERY hard day for us both.  Dr. Kim has been so very patient with me over the last two years.  He lets me ask as many questions as I would like.  (Even when the questions don't necessarily pertain to our situation, he let's me play the "what if" game.)  Steve was given
6-9 months to live when diagnosed.  Dr. Kim and his treatment recommendations have Steve with us today (NED at that!!) 26 months after diagnoses. Dr. Kim will be missed tremendously.

We will miss Dr. Kim more than words can express!!!!

Steve has an ultrasound and 3 Dr. appointments scheduled tomorrow.  I will update just as soon as we get results!  Thank you all for all of your support, prayers, thoughts, messages, texts, calls, etc.  We love you all! <3 <3 <3

Sunday, March 16, 2014

6 months NED!!!!

Today is a bittersweet day for our family.  We found out this morning that one of our sweet melanoma friends lost her husband last night to melanoma after a long, hard battle.  Our melanoma family is a very tight knit community and every loss is like losing a family member....so heartbreaking. Today is also 6 months since Steve was given the news that he is NED.  Like I said, a bittersweet day, indeed.

Here is a picture of Melissa, Jeff and their precious babies....RIP Jeff.

Steve was diagnosed with Stage 4 metastatic melanoma in January of 2012.  At that time, he was given 6-9 months to live (this is the typical response from most doctors to melanoma patients when diagnosed).  Can you imagine at age 34 being told you were going to die?  Can you imagine at age 32 being told you are going to be a widow and single mom of 2?  I will never forget that day.  That moment.  After the general oncologist gave us the news, she walked out to give us some time alone.  We held each other and cried and cried and cried.  I spent at least a week crying.

After the initial shock wore off, I threw myself into melanoma research.  I read about melanoma, treatments, trials, read blogs, etc., every waking minute.  In February of 2012, Steve started a grueling round of biochemo at MD Anderson.  Following biochemo, Steve had a major, invasive surgery to remove an adrenal gland and large tumor that was attached to the adrenal gland and intertwined with the vena cava.  After recovering from surgery, Steve was treated with Zelboraf.  After experiencing debilitating side effects and being admitted to the hospital for 11 days with a mystery infection/illness, Steve was taken off of Zelboraf.  The next treatment Steve did was Yervoy (Ipilimumab).  Yervoy is 4 rounds of 90 minute infusions taken once every 3 weeks as outpatient.  Steve did very well on Yervoy.  He had little to no side effects.  And on September 16th, 2013 we got official word that Yervoy did it's job.  Steve is NED!

As we celebrate 6 months, NED, we have to be realistic to the fact that melanoma is a BEAST!  Melanoma can come back at any time.  We are thankful for the "normal" life we have been able to live the last 6-9 months.  During this time, we sold our home and built a new home.  We moved into our new home about 2 months ago.  We did not plan on building a new home for at least 5 more years, but we know we are on borrowed time and need to do anything and everything we want to do while we have the opportunity.

Steve's next scans are on March 30th with results the following day, March 31st.  We hope the results continue to show NED, but are always prepared to hear we need to fight again.  And if needed, that is exactly what we will do....fight again.  "Fall down 7 times, Stand up 8"