Troy’s Story

In the words of his mother, Erica:

So it’s a long story but it’s ours.  Thanks for reading and providing an outlet for other parents like us to post our struggle and ultimately our happy ending.

At my 20 week ultrasound appointment the nurse was measuring my baby and asked me if I was sure about the date of conception.  My husband Jason and I had planned to have a baby so we knew exactly when he was conceived.  She said his legs, arms and spine measured 20 weeks but his head measured proportionately larger.  Large heads run in my husband’s family so we didn’t find cause for worry.

Troy was born March 3, 2009 at Fort Bragg, NC and was 9lbs, 15.4oz and 20 inches long.  He was large but my first child, a girl, was 8lbs 6oz so we didn’t think that was odd.  His head circumference was 16 inches so on every chart he was over 100% for a newborn but he was still super cute and we were so proud of our big boy!  When Troy was four months old he had to get medically cleared to travel to Germany with us as I am active duty Army and was on orders to move there.  The doctor clearing him commented on his large head and sent us to get a CT scan to ensure he wasn’t hydrocephalic before clearing him for travel.  The CT came back normal.  He just had a big head so we flew to Germany when he was five months old.

Baby Troy

Troy had his six month well baby appointment with a military pediatrician in Mannheim, Germany and she recommended we see a pediatric neurologist since at this point his head was at about 200% for his age and his height and weight had leveled off at 50-75%.  We agreed to be seen off post by a German pediatric neurologist since Landstuhl, the military hospital, was an hour drive away.  The German doctor did some exams, blood work and a urinalysis to test for common diseases that might lead to his symptoms. My husband and I are of German decent which made it easier for the German doctor to look for diseases more commonly found in Europeans.

At first Troy was diagnosed with Gluteric Aciduria as gluteric acid was found in his urine and this disease is more often found in Europeans.  The doctor calmly told us that when Troy had his first childhood fever he would likely go into a coma and if he woke up he would have cerebral palsy like symptoms, mental retardation or be unresponsive. We were devastated but the doctor ordered an MRI to see if Troy had lesions on his brain consistent with the clinical diagnosis. At this time he was eight months old. The doctor called us a month later and said he didn’t have the lesions consistent with Gluteric Aciduria therefore he didn’t have the disease. We were overjoyed. When Troy was 10 months old I deployed to Iraq. During my deployment to Iraq Troy was doing well but still barely meeting milestones. He didn’t crawl until he was 12 months old but we just attributed it to his large head throwing him off balance. Jason took Troy to his 12 month well baby appointment with our military pediatrician and filled her in on the past six months of tests with the German doctor. The pediatrician told my husband that his head was 56 centimeters and something HAD to be wrong. We figured she was over reacting since my husband has a 59cm head circumference and many of his 13 nieces and nephews had large heads as toddlers. Our pediatrician recommended Jason take Troy to visit the American pediatric neurologist at Landstuhl for a second opinion. Jason requested all of Troy’s records be released from the German medical system to the Americans for review.  Troy was 17 months old by this time and just beginning to walk.

In July 2010, three days after my return from Iraq, Jason and I met with the American neurologist who had reviewed the German doctor’s test results and MRI. He told us that Troy had a Vein of Galen Aneurysm Malformation and we had to move back to the United States immediately so he could get treatment.  We looked at some MRI photos with the doctor and there it was plain as day!  We were shocked the German doctor didn’t tell us.  We filed all the necessary paperwork and the Army found me a duty station near Johns Hopkins and Children’s Hospital DC and we moved to Annapolis, MD when Troy was 21 months old.  By this time it had been 13 months since Troy’s MRI.

We arrived in Maryland December 6, 2010 and on December 8, 2010 Troy began cyclically vomiting.  He couldn’t talk to us and tell us what was wrong but it was obvious he was in pain.  The doctors at Walter Reed Army Medical Center in Washington, DC sent us straight to Children’s Hospital in DC since they aren’t equipped to deal with the complications associated with Troy’s aneurysm.  He was admitted to Children’s where they did a CT looking for a stroke and thankfully didn’t find one.  They then did an MRI to try and figure out what was going on inside his brain. The MRI came back with some unexpected good news.  Troy’s aneurysm had repaired itself!  This was miraculous but still didn’t explain the vomiting. After five days in the hospital they chalked his vomiting up to a virus and discharged us.

The week after Troy was discharged

Over the next few months Troy lingered between periods of relative wellness and cyclic vomiting.  Numerous emergency room, doctor visits and tests led us nowhere. We knew that after three months of this cycle there was something worse than a virus going on. Finally after two emergency room visits in the span of two days we were readmitted into Children’s DC. They did an ultrasound on Troy’s abdomen and realized he had an Intestinal Intussusception.  The doctors attempted to relieve it non surgically three times over a 24 hour time frame and thought they had it beat so we were once again discharged. Troy seemed great for about a week then the pain and vomiting reappeared.  We returned to Children’s DC where they admitted us again and tried to relieve the intussusception non surgically again.  It failed so they moved to exploratory surgery to see if they could find a root cause for the intussusception.  They found polyps in his intestine and cut a small section of his intestine out.  After three or four days we were released and Troy began gaining weight, talking and acting like a typical two-year-old.

Throughout this process we were able to get Tricare to agree to genetic testing on Troy and we discovered he had a PTEN gene anomaly resulting in Cowden Syndrome and BRRS.  My husband and I don’t carry the gene anomaly so he has a spontaneous mutation.  Troy had his tonsils and adenoids removed when he was three years old due to Severe Disruptive Sleep Apnea.  The surgeon who removed his tonsils said they were the largest he had ever removed.  When we returned home it was great watching Troy sleep quietly when before I could hear snoring and choking throughout the night.

Troy in the hospital and allowed solid food again. His favorite food is pizza

Since his surgeries Troy has continued to eat, grow, talk and play.  He’s currently three and a half and doing great! He is 38 inches tall and weighs 40 lbs. Troy doesn’t show any signs of autism or cognitive delays.  He attends therapy three times per week to strengthen his grip and core strength and also goes to pre-school two days per week. Troy plays T-ball and is an outgoing, loving, little boy who loves riding his bike, climbing on everything in the house and trying to ride our dog Sidney, an 80 lb Weimaraner. His head size stabilized at 58 cm and he’s growing into it so well that no one would ever know there was anything wrong with him unless they knew our story.

It was a long road to get here but there is hope for those of you just receiving a diagnosis!

2 Responses

  1. Erica Jones Lehmkuhl - February 4, 2015

    UPDATE: Troy is now almost 6 years old and we live in Hawaii! His head hasn’t gotten much bigger, he’s doing well in school and has been cleared by his neurologist and gastrointerologist. He only gets yearly MRIs to ensure no tumors have developed. Troy had a lipoma cut off his thumb while he was sedated for his last MRI and it hasn’t grown back. He’s tall for his age, around 45″ and weighs about 55lbs. He’s doing well in school and loves the beach!

  2. Erica Jones Lehmkuhl - December 2, 2016

    UPDATE: Troy is now almost 8 years old and we live in Hawaii. His head size has stabilized and he is doing very well in school. His motor skills and strength lag a little behind the other kids but he’s still growing and pretty big for his age (4’4″, 70 pounds).
    He is still being monitored by a multitude of doctors but hasn’t required any additional surgeries since his last one at 3. We got some bad news from his cardiologist. His aorta is enlarged at the point that it leaves his heart. They’re not sure why but they’re monitoring it via ultrasound every six months. He’s not allowed to play any contact sports, life weights or play competitive sports where conditioning cardio will be a part of the training. They described it to me like a balloon. It can stretch but if it stretches too much under pressure it could burst. A burst aorta means death within minutes so it’s not what any parent wants to hear. They’re going to monitor and when absolutely necessary they will perform surgery to cut out the weak portion of aorta and replace it with a goretex sleeve. They said this will likely be needed when he is in his 20s or 30s.
    Other than that he still has two small tumors on his back that have been there since he was a baby but they aren’t growing, and a new tumor on the side of his heel. They’re going to do an MRI to see what it’s made of and potentially surgically remove it. He has also started to have some skin issues potentially related to PTEN. Psoriasis runs in my family and that’s what it looks like so it could be completely unrelated. Thankfully it’s small patches near his hairline so it’s not very noticeable.
    Over the years I’ll continue to keep you posted! Have a great day and if you ever come to Hawaii and want to visit look us up (I’m the only Erica Jones Lehmkuhl on facebook). It would be great to meet another family with a child who has the same genetic disorder as Troy. We live on the island of Oahu. It’s where Waikiki, Honolulu and Pearl Harbor are located.

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