Nathaniel’s Story

Nathaniel Age 2

In the words of his mother, Trish:

“After a perfect pregnancy, we nearly lost our first child when he came into this world.  After 4 hours of hard pushing, as well as several unsuccessful attempts with the forceps and the vacuum extractor, Nathaniel started having trouble.  (Who WOULDN’T, after all that?!)  He was crowning, but he just would budge any further.  As a Registered Nurse, I knew things were getting worse when I began to hear the decelerations on the fetal monitor.  I finally said to the obstetrician, “Shove him back in there, and let’s go cut him out.  He can’t take this any longer!”  We went to the O.R. for an emergency C-section, but the doctor still couldn’t get Nathaniel out; he was stuck too far down in the birth canal.  Finally, with someone pushing from below and pushing from above, and the doctor nearly up on the table to get leverage, Nathaniel was out.  “Look at the size of that head!” someone exclaimed.  Unfortunately, Nathaniel was blue and floppy, with no respiratory effort.  The medical personnel surrounded him, and I could not see or hear my baby.  I thought, “Really, God?  Really?  It’s all going to end like this?”  Then my husband Chris, who had been at my side, near the head of the bed the whole time, got a glimpse of Nathaniel and told me, “He’s OK!  He’s moving around, so he’s going to be OK!”  Then a member of the medical team stepped away from the baby for a second, and I was able to see Nathaniel’s little body lying there.  My heart sank.  I told Chris, “He’s not moving by himself!  His body is only moving because they’re doing CPR on him!”  The chest compressions were jarring his whole body.  I was bawling.  I was strapped down on an O.R. table with my abdomen sliced open.  There was nothing I could do, and I feared that my son would die.

Somehow, Nathaniel lived.  Someone brought him to me in the O.R. so that I could kiss him and touch him, but it didn’t feel real until about 8 hours later when I could finally hold him and nurse him.  He wasn’t out of the woods yet, and they even talked briefly about flying him to the nearest regional medical center.  Nathaniel’s gigantic head was the reason for the difficult birth, and his extended period in the birth canal had caused him to become dehydrated and hypocalcemic, and he was having some trouble breathing.  My obstetrician said that only like one child a year was born with a head that big; additionally, he said that he had never had to pull a kiddo back UP from that far down the birth canal before.  An ultrasound showed that one of his kidneys had taken a hit.  He had some low-tone issues, but everyone kind of chalked that up to being so exhausted from the traumatic birth.  No further evaluation was done in regard to the large head.

Somehow, Nathaniel recovered and we were discharged to home in the standard 3 days after a C-section.   Labwork a week later showed that his electrolytes were completely back into the normal range.  A kidney ultrasound a month later was back to normal, too.  It looked like Nathaniel was in the clear!

At 4 months, we noticed that his right testicle seemed quite enlarged.  An ultrasound was performed, and he was diagnosed with a hydrocele.   Nothing further was done at that point.  We were told to keep an eye on it, but that often times hydroceles can resolve without any interventions.

Fast forward to his 6-month well-baby appointment.  His head circumference had always been off the charts, but at 6 months, his head had even grown disproportionately to his body.  His doctor was concerned and sent us to have a head CT scan performed.  The scan appeared to be normal, so his doctor said, “As long as he continues to meet his developmental milestones, we can consider him a normal kid.”

The next 5 months or so went fairly smoothly.  Well, it’s all relative, I guess.  He was a difficult baby; I can’t kid myself about that.  He was a poor sleeper.  He had diarrhea all the time.  He had a rattle in his throat that drove me nuts.  I quit my part-time job when he was about 8 months old and then stayed home with him full-time.  When Nathaniel was approximately 11 months old, he was scheduled for a 2-part surgery:  a hydrocelectomy, since that right hydrocele hadn’t resolved, and probing of his lacrimal glands to repair his blocked tear ducts.  During that surgery, the anesthesiologist was bothered by the throat rattle, so he called it off just after the tear ducts were probed, but before the hydrocelectomy was performed.  After Nathaniel recovered from the anesthesia, we were sent to a pediatric pulmonologist that same day.  Nathaniel then went through a chest xray and xrays of the soft tissue of his neck, and was started on a couple of meds that day.  Two weeks later, he went back under anesthesia to have the hydrocelectomy done.

When he turned a year old, we started noticing that he wasn’t meeting some of his developmental milestones.  His doctor wasn’t very concerned yet, and advised us to keep an eye on things.  A couple months later, since he was still falling below the mark in some areas, I had him evaluated by the Birth to Three program.  He qualified for speech therapy services, so a speech therapist started working with him a couple times a week.

The rattle in his throat didn’t really improve, and the pulmonologist put him through a video swallow study, an upper GI series of Xrays, and other meds.  Nothing ever seemed to make any difference, but as he got a little bit older, he could understand and follow prompts to swallow or clear his throat.  I finally put an end to all the meds and evaluations for the throat rattle.  We just chalked it up to his excessive drooling, lower muscle tone, and poor control of his lips and mouth.  Additionally, more so when Nathaniel was younger, his mouth was often open at rest.  His speech therapist would incorporate things like horn therapy and straw therapy to try to strengthen his facial, throat, and neck muscles.

By this time, Nathaniel was very afraid of all things medical.  No amount of consoling by Mommy or Daddy would help, even though we’d always bring a fabulous ‘bag of tricks’ with his favorite toys, snacks, and new prizes.  We couldn’t take him to get a haircut; we couldn’t bring him along with us when our cat had an appointment at the veterinarian.  Every music group, dance class, and library storytime was difficult.  He would FREAK OUT all the time.  Soon, an Occupational Therapist was added to his case through the Birth to Three program.

At Nathaniel’s 18-month-appointment, his doctor was more concerned about things.  She ordered some bloodwork to check for some metabolic & genetic disorders.  Those tests all came back normal, and we were then sent us to a neurologist.  Being the Crazy Nurse Mom that I am, I researched things that would account for his gigantic head and speech delay, and brought a list of what I had found to Nathaniel’s regular doctor, as well as to the neurologist.  One of the things on that list in August of 2007 was “PTEN gene mutation.”  An MRI of Nathaniel’s head was performed, but no abnormalities were found.   Nothing more was done at that point.

Autism was brought up.  Around age 2, Nathaniel was evaluated for autism, but thankfully was not found to be on the spectrum at all.  One of the things required for an autism diagnosis was completely absent—he truly had no tell-tale repetitive behaviors.  (“restricted repetitive and stereotyped patterns of behavior, interests and activities”)   The renowned evaluator said that Nathaniel reminded her of kiddos that she had seen in the past with very significant sensory issues.

Sensory issues, for sure!  Loud sounds (even the hair dryer) would send Nathaniel running.  He couldn’t bear to be outside without sunglasses on, even on a cloudy day.  He had numerous food aversions and would gag easily, sometimes even at the sight of something that was noxious to him.  He still ate pureed babyfood fruits and vegetables, and would often swallow mouthfuls of food, such as macaroni & cheese or sliced up hotdogs, without chewing them.  Sometimes he would vomit, even in his sleep, and would wake up in a pool of undigested macaroni.

His speech was still significantly delayed and he would still FREAK OUT a lot.  It was hard to take him places.  He still had diarrhea all the time, so potty training wasn’t in our near future.  His bottom was often badly excoriated from the diarrhea and frequent diaper changes.  One time after Nathaniel was 2 years old, I asked his doctor if there was something that we should be testing his stools for.  She replied, “Nah.  If that’s the way he’s always been, then that’s just probably how he is.”

A few more months passed.  His Birth to Three occupational therapist suggested that we have Nathaniel evaluated by the feeding team at a nearby regional hospital.  The feeding team then referred us to a pediatric gastroenterologist to look into the diarrhea more closely.  Preliminary bloodwork was indicative of Celiac Disease, although there was no family history of celiac.  The gold standard for diagnosing celiac disease is performing an upper endoscopy to get a biopsy of the intestinal wall.  The biopsy confirmed that he had Celiac Disease, so in August of 2008, Nathaniel went on a strict gluten-free diet.  The scope also revealed something that no one suspected, however:  benign polyps in his GI tract.  Intestinal polyps are not caused by Celiac Disease, so more evaluation was necessary.  The GI doctor inserted a PillCam, which moved through Nathaniel’s small intestine, taking over 50,000 photos over almost 8 hours.  More polyps were found, but the doctor chose not to do anything about them at that time.  He really wasn’t sure what the cause of the polyps was, but didn’t seem to be too worried about it.  I asked him about the possibility of a PTEN gene mutation, but he said that was unlikely.

Nathaniel’s diarrhea did not improve on the gluten-free diet, as we had expected.  We even went to another specialist in a neighboring state.  I showed her the info that I had found on PTEN gene mutation, but she also disregarded it.  She basically concurred with what the original pediatric gastroenterologist has said.

On a hunch and a suggestion of a friend, I cut out all dairy sources from Nathaniel’s diet, and the diarrhea finally eased up.  He remained on a gluten-free diet, too.

About 4 months after going gluten-free, Nathaniel went through a follow-up endoscopy, PillCam, and even a colonoscopy.  This was still before he had even turned 3 years old.  The procedures showed some improvement to his intestines as a result of the gluten-free diet, and thankfully, no polyps were found in his large intestine.  Our understanding from the  doctor was that Nathaniel would have to undergo these procedures every year to keep an eye on the polyps and make sure that nothing starts looking suspicious.

Soon Nathaniel turned 3 and was transitioned from the Birth to Three program and into the hands of the local school district.  He was found to be eligible for Special Educational services, and began attending the Early Intervention preschool program.  Additionally, he transitioned to the school district’s speech & occupational therapists, who still see him, each twice a week.  The school psychologist evaluated him for autism, and again, he was not found to be on the spectrum at all.  Before he turned 3, I also began sending him to a ‘regular’ preschool, too.  He still has that balance at age 4:  the special ed preschool 3 afternoons per week and the regular preschool three mornings per week.

Things were ‘status quo’ for a while, but since we were expecting another baby and I was in the ‘advanced maternal age’ category, we were referred to a genetic counselor to review any increased risks for the fetus.  The genetic counselor took great interest in hearing about Nathaniel’s medical odyssey, and asked why we hadn’t been to a geneticist with him.  I told him how I had inquired about the possibility of seeking a genetics evaluation several times, but each time I was told that it was probably not necessary.  The genetic counselor set Nathaniel up with an appointment to see one of only two geneticists in our state.  During that first visit, the geneticist and her assistant told me that they thought Nathaniel should be tested for a PTEN gene mutation.  I thought, “Finally!”

Nathaniel Age 4

In September 2009, Nathaniel underwent an upper endoscopy and a colonoscopy again.  While he was under anesthesia, bloodwork was drawn to test for the PTEN gene mutation; that test came back positive and confirmed something that had been on my Crazy-Nurse-Mom list for over 2 years.  The scope & colonoscopy results were fairly normal.  The PillCam is the only way to see the small intestine, but the doctor opted NOT to use the PillCam this time.

It seems that each PTEN gene mutation case is different.  Nathaniel does not have autism, down-slanted eyes, or discoloration of the skin of his penis.  He does have two tiny skin-colored bumps on his fingers (acral keratoses), but these would go largely unnoticed by most people.

In December 2009, Nathaniel had a tonsillectomy/adenoidectomy.  Breathing during his sleep drastically improved after that!  During that same month, my husband and I were tested for the PTEN gene mutation, but both of our results were normal.

On August 31, 2010, Nathaniel was had his annual upper endoscopy & colonoscopy.  This time, he had the PillCam procedure again, too.  Unfortunately, the Pill cam showed hundreds of polyps in his small intestine and a large, nearly lumen-filling mass near the end of the small intestine.  In September 2010, Nathaniel underwent an exploratory laparotomy and bowel resection 19 centimeters of his small intestines, and his cecum and appendix, were removed.  Thankfully everything was benign.  As a mom, the toughest part is knowing that he may go through this every year of his life.

I have always truly believed that everything happens for a reason.  Thank God that Nathaniel was diagnosed with Celiac Disease; otherwise we may know have known about his intestinal polyps till it was too late.  Thank God for the birth of Nathaniel’s little sister; without her, we might never have gotten to a geneticist for the proper diagnosis.

Today (October 2010), Nathaniel has recovered quickly from the bowel resection, and is a sweet and happy little boy who amazes us every day.  He is as skinny as a rail, but very tall for his age.  The weight just from being as tall as he is, in addition to the weight of his extra-large head, always puts him at the very high end of the weight charts, even though his knees seem like the widest part of his legs, and he’s skinny enough to see ribs.  He continues on the gluten-free diet, and approximately a year after going gluten-free, his body was able to handle the dairy again.  His speech is great, although there are still a few little things to work on.  He is an extremely social young man, and he LIVES to spend time with his friends.  In his exuberance to be with his friends, he sometimes is a little inappropriate, but we are confident that things will come along as he matures and gets a little older.  He still has such a boyish innocence about him, and he is definitely a rule-follower.  Cognitively, we’ve never had any concerns; in fact, someone recently asked me if we had ever considered having him tested for the Gifted Program.  Nathaniel still had gross motor delays, but not significantly enough to qualify for Physical Therapy services.  He loves to be outside and riding his bike (with training wheels) is one of his favorite things to do.

He loves his little sister so very much, and he’s the best sharer in the whole world, I think.  Nathaniel is very musically-inclined, and at this point, I think that he wants to be a rock star when he grows up.  We love this kid so much, and he has touched so many, many people in his short little life!”

Nathaniel with his sister October 2010

Trish and Nathaniel went to see Dr. Eng at the Cleveland Clinic in December 2010.  Here are some of their findings in Trish’s words:

“Well, as you might remember, Nathaniel’s annual scope/PillCam in Aug 2010 revealed a “large, nearly lumen-filling mass” so he had to have surgery. After the 19 cm small bowel resection back home on 9-28-10, we were told that the surgeon found HUNDREDS of small polyps in the 12 (or so) feet of his small intestine. All I could think of, 24/7, was that, “Oh my God, my kid is full of cancer!”

Well, interestingly, after many appointments with our GI guy back home and the one with the GI in Cleveland, we didn’t know until the genetic counselor in Cleveland (Jessica Mester) explained to us, after examining all the pathology reports from back home, that the hundreds of small intestine polyps are likely never going to turn cancerous. Out of all the small intestine biopsies that Nathaniel has had in his short little life, only one of them came from a ‘real’ polyp…the kind that showed cells that would turn into cancer. All the others so far have just been extra growths of the lining of the intestine, but not ‘real’ polyps. Does that make sense? Visually, they all LOOK like polyps, but under the microscope, only one was really a polyp. That was huge for me!

So, there is still definitely a risk, and he’ll still always have to be monitored with scopes/PillCam, but I don’t feel anymore that he’s filled with cancer-producing polyps. A big weight off my mind! I feel like I can breathe a little bit again, you know?

The concensus in Cleveland was that Nathaniel wouldn’t have to be scoped nearly as frequently as what our local GI had proposed. (Our local guy wants to already scope him 3 months after his big surgery, and then every 6 months as long as everything looks OK!) They caution against doing it so frequently because of the anesthesia risks. Even though Nathaniel’s been under anesthesia so many times and never had any trouble, it only takes one time for things to go really bad and have a tragic result.

So… we still kind of have to find our comfort zone with all of this. No one can say exactly how often Nathaniel should be scoped/PillCam’d. How fast will things change in there? Will all of the non-polyp growth areas grow? Will he develop other masses that could cause a bowel obstruction? We really don’t know the answers to any of these questions, and the only way to find the answers is to do things that carry risks.

Additionally, the Cleveland team did bring up the possibility that Nathaniel might not really have Celiac Diease. They admitted that they just don’t know enough about the subject yet, but that at some point in the future, we may be able to investigate whether or not PTEN disorders cause reactions inside the body that can mimic the changes that are typically caused by Celiac Disease. We don’t want to get our hopes up, but it will be interesting to investigate the possibilities someday!

Nathaniel has the most extensive GI history of the PTEN patients in their studies so far, so he’s kind of an enigma, especially at just 4yrs old. (He turns 5 this Sunday!) I feel very good that we have the Cleveland team on board with his care, and that our local doctors are willing to listen to what the Cleveland team recommends.”

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Archived Responses

Lucy – October 11, 2010

Hi Trish, Thanks for sharing all this detail about Nathaniel’s story. I think it is really helpful to understand the different paths that this syndrome can take. Nathaniel is lucky to have a Crazy Nurse Mom!!! Reading this I really believe that it is to your credit that he has survived some life threatening situations. All the best, Lucy

Trish – October 12, 2010

I shared the link to this site with friends and family, Lucy. Not sure what the problem is, but they say Nathaniel’s photos are not displaying for them, either.

Karin – October 13, 2010

Nathaniel is so blessed to have the family he has. He is such a beautiful little boy (just like his parents). Your story above is so interesting and informative. I have to say you write very well.

Lucy – October 13, 2010

So sorry Trish. I set it up in a way that only I can see the pictures and what a shame that is (but very telling about my emerging website skills). I will get it fixed! Thanks for the feedback. Lucy

Trish – October 13, 2010

It’s fixed! Great job!

Thanks, both to Lucy & Karin, for your kind words! We are very blessed with Nathaniel, and hope to help others someday as they navigate through their own medical struggles. It’s in infancy stages right now, but I have started business called Midwest Medical Advocates. This is where my passion lies, but, of course, my own kiddos come first right now!

aimee – October 14, 2010

See moms instincts are almost always right! My son (Nate) does not have near the problems your son has but he has allergy induced asthma and it took 6 months for him to get proper treatment. Anyways you are a wonderful mom and your children are beautiful! God Bless!

Lucy – October 14, 2010

Your new business sounds like it can help so many people who might not have the training or ability to navigate a system that focuses on quantity but has difficulty with outliers. Would love to hear more about it. Lucy

Trish Matson Buus – January 21, 2011

Other PTEN websites/Yahoo groups/Facebook pages:

I thought I’d post a list of PTEN websites, Yahoo groups, & Facebook pages that I have compiled, just in case some of you are not tapped in to them. Some are bigger & more updated than others, of course, but I always like to get my hands on as much info as possible.

Websites:
*www.ptenlife.com
*www.ptenworld.com

Yahoo Groups:
*cowdensyndrome
*cowdens_disease

Facebook pages:
*PTEN World
*Young People Living With Cowden’s Syndrome
*syndrome de bannayan riley ruvalcaba
*Cowdens syndrom
*BRRS (Bannayan Riley Ruvalcaba Syndrome)
*living with cowdens
*Cowdens Syndrome

Anyone have any others?
Trish

Lucy – January 21, 2011

Thanks Trish. I updated the website to reflect all these new links.

Jane – February 3, 2011

Hi,

I would be interested in asking some related questions offline.

Trish Matson Buus – February 3, 2011

Certainly, Jane! Please feel free to contact me at your convenience. Trish TrishMatsonBuus@aol.com or Home Phone: (605) 692-3100

Kris – February 22, 2011

Trish,
My son Connor and Nathaniel have a lot of similiarities! I would surely check out the G/T route. Like Nathaniel has a crazy nurse mom, Connor has a crazy teacher mom. He was tested in kindergarten and we were amazed by his IQ!! He is a genius. It is great that he thinks this way, because now we just lay things on the line about his PTEN mutuation and says this is how it is bud. We have been pretty lucky so far. He had the colonscopy/capsule done in June and everything was clean. He does have pretty annoying and large lipomas in his abdomen and left leg. We just keep an eye on those. Right now we are doing a Rapamune/Rapamycin trial to see if we can get the lipomas to slow/stop. So far, we haven’t seen that, but have seen some weight gain. Our most recent challenge has been his vagal nerve responses when he has abdominal cramping and pain from possible constipation. We are ruling out a bunch of causes right now and trying to keep him hydrated so that doesn’t happen. I woule love to connect. I am on the Cowden’s listserv, but not really sure how to access it and stuff. Let me know if you want to chat sometime.
Kris

Trish Matson Buus – February 24, 2011

Kris,
I’d love to chat with you sometime!!!

Trish
TrishMatsonBuus@aol.com or Home Phone: (605) 692-3100

4 Responses

  1. marc - December 8, 2011

    trish you have a great family my name is marc i also have cowdens i older then your son 50 ive had some physical problems since being diagnost but iam doing much better now and my genetic councelor refered me to this site feel free to contact me anytime if you want to talk i would be glad to help you or any1 elese i can if my experiences can help with there treatments io will
    ziggy85@verizon.net/zeemacss is my yahoo im
    thanks marc

  2. Trish - July 16, 2012

    Sorry I haven’t updated Nathaniel’s story in such a long time. He really is doing so well!

    I would love to be in touch with the “Kris” who left a message just above. Kris, are you still out there somewhere?

    Trish
    TrishMatsonBuus@aol.com
    (605) 692-3100

  3. suzie chesney - May 15, 2016

    I’m a 61 year old ex RN of 25 yrs, now disabled and a single mom of an 18 year old son. We have battled mystery illnesses for several years with no answers and I just found nathaniels story tonight, on my birthday after spending the entire day researching the now discovered FACT that we do, indeed have qualifying criteria. I’ve only been able to view your sidebar, as I’m exhausted and can’t stay up longer tonight, in a good, finally found the diagnos(es) way, thank God. But we hit on all levels. You and nathanial are a true God send on my birthday today, as you will educate me through your own experience on how to navigate this so my son can live a joyful, healthy life. God bless you..I’ll be back to absorb all I can!

  4. Jessica - August 6, 2016

    Thank you for posting this. My daughter was just diagnosed and sounds just like your son. I had been debating on whether to go out to Cleveland and I think your post just made up my mind. Really appreciate your sharing your story!

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