Our Family’s Journey with Pituitary Dwarfism and Autism Spectrum Disorder
My husband and I have been debating for several months as to if we should discuss our private family and how our situation as a family affects our decisions to lead a simpler, more natural lifestyle. Our children are the best part of us and we have loved every minute, but we want to do what is best for them and their futures. In the end, we have chosen to share our story in order to help others as they start the journey and possibly identify the syndrome affecting two of our boys.
We have three boys Taz, age 5; Dragon, age 4; and Pidge, age 9 months (names have been changed). All three are typical active, intelligent and affectionate boys. We never know what antics the two oldest boys are going to pull next. They work in tandem and are never far from each other.
Pituitary Dwarfism – Growth Hormone Deficiency
When Taz was born there was nothing out of the ordinary other than being large at 8 lbs 3 oz, having decided to make an early appearance at 37 weeks. Otherwise perfectly normal he did inherit the family trait of an extra pinky finger skin tag on each hand also known as post axial polydactyly. My husband also had one on his left hand. They were simply tied off before we left the hospital. He progressed normally and hit all of his developmental milestones. We didn’t realize just how small he was until the following spring, when I got out some of the summer clothes for a warm early spring day. He was swimming in 3-6 month onsies and I had to put him in 0-3 month clothes at 8 months old. I called our pediatrician to discuss my concerns that he was so small given his size at birth. When we looked over his growth charts, we saw that he had been wiggling while he was being measured and was not as long as we had thought, putting his growth below the 3rd percentile on the WHO growth charts. He ran an initial blood workup, including an IGIF-1 level to test his hormone levels. They came back on the low side of normal so we were referred to an endocrinologist for evaluation. After waiting nearly 2 months for an initial evaluation, we were seen. Further blood work showed only low levels of growth hormone so we were scheduled for a stim test to evaluate how much growth hormone his pituitary gland was producing. His levels came back very low, not surprising given that at 10 months of age, he had only grown just over 4 inches from birth, and that in the first few months. He had not grown for about 6 months. The next step was to have an MRI done, which showed no abnormalities in his pituitary structure. By this time, he was old enough to do a bone growth x-ray of his hand, which showed a 3 month delay. With a normal MRI, delayed bone growth and no other cause, he was given a diagnosis of idiopathic pituitary dwarfism – growth hormone deficiency (GHD). Taz was approved by our insurance to receive Growth Hormone Therapy (GHT). My husband and I were trained in giving him his nightly shots and he started (GHT) at 13 months. He will continue them daily for the rest of his life.
We were also referred to a geneticist. After being told that it was likely that this was an isolated case and while we could continue with a genetic test, it was a very expensive process and it was highly unlikely that they could or would find a genetic cause. We were worried because we had just found out that we were expecting a surprise #2 baby. Both the geneticist and our endocrinologist informed us that while we could keep an eye on any more children, it was highly unlikely that there would be any future problems.
Although receiving GHT, Taz started missing developmental milestones, due to hypotonia or low muscle tone. His sleeping patterns also continued to deteriorate until he was only sleeping a few hours a day. At one point he was sleeping/napping 2-3 hours a day total. Growth hormone affects the body at a cellular level so height is only an outward sign. People with GHD have problems with poor muscle development, skin problems, heart and lung issues, high body fat in proportion to muscle, and other associated issues. Outwardly, without treatment, he would be well under 5 feet, most likely under 4 feet tall as an adult with a host of other health issues. Any time he fell and scraped his knees, they took much longer to heal than other children, he had trouble with coordination and poor lower body strength, not walking until 20 months. He also needed to be fed every 1 1/2 hours around the clock to maintain his weight. When we were first evaluated, we were told that our children should have the genetic potential to be around the 60th percentile for height. Taz’s growth while slow at first, started to catch up and by the time he was 4 years old, he was in the 25th percentile for height! He has stayed steady at the 25th percentile and after 2 1/2 years of physical and occupational therapies is doing very well! From having a lot of difficulty with fine motor skills, he has become quite the artist and will draw on anything and everything (I have to find a good alternative to Magic Erasers for the walls). Looking at him now in Kindergarten, one would never know what it has taken to come this far – he has become quite the little man.
Autism Spectrum Disorder
Dragon is nicknamed after his current obsession with Custard the Dragon by Ogden Nash. It was either Dragon or Dinosaur. When he first started preschool, the teachers would say is your name *____*. He would reply, “I no *____*, I Dinosaur.”
Given the current thoughts on pre-eclampsia and autism, I am including Dragon’s birth story. I sailed through my pregnancy without any of the hypertension and swelling I had with my first pregnancy. In fact, I struggled to gain weight as I was still breastfeeding Taz. Everything was going very well until my usual 36 week check up, at 36 1/2 weeks. My blood pressure had gone from being low to being quite high. I was put on bed rest and had to run some tests to check for pre-eclampsia. On the day that I made it to 37 weeks, I was to get the test results. Taz, 16 months old, had had a cold a few days before but everything was fine and we were packed and ready for the hospital if I needed to go, sitters were arranged. It was also my father’s birthday and we were getting ready to celebrate as best we could with me being on bedrest. Taz was in the playpen and I had taken a phone call. What had been seconds before happy sounds suddenly stopped and I grabbed the phone to call 911. Taz was having a full blown seizure. EMS arrived and could not stop the seizure so we were being transported to the hospital, he seized the entire way there. By the time that they finally got the seizure under control, he had been seizing for 45 minutes. His temperature had risen from 99.1 when EMS arrived to 104.5 at the hospital upon arrival – it was a febrile seizure. Just to be on the safe side, they performed a lumbar puncture to rule out meningitis. The results came back abnormal so a culture was taken – they were concerned about encephalitis. We stayed for 2 1/2 days until he was cleared and his fever finally gone. I had called my OB/GYN to explain the situation and ask what signs to look for and was only told that I needed to be evaluated at the hospital. I could leave my son alone because we were concerned that with his severe separation anxiety he would have another seizure. I borrowed a friend’s portable blood pressure monitor, notified the nurses of the situation and stayed with him. Word spread on the floor that I was full term so every time the shift changed I was informed that I wasn’t allowed to go into labor on their shift. By the time we were released I was starting to get fairly regular contractions and was the baby was dropping. We were released in the afternoon and had an appointment the following day. Since I hadn’t heard anything new from my OB/GYN’s office, we went in for the appointment as scheduled. I was sent directly to the hospital and given an ultrasound to check Dragon’s size. He was an estimated 9 lbs 3 oz, I was put on magnesium sulfate and induced. Baby Dragon was came into the world the following day to Bon Jovi’s “Livin’ on a Prayer”, at 8 lbs 14 oz., 18 days early. There were no complications from delivery and he, like his brother, had some slight jaundice and ended up on lights for a few days.
Dragon developed fairly typically, meeting milestones, making eye contact, tracking objects (tracked across the mid-line even at a few weeks old, started while we were still in the hospital), started saying mama and dada at 9 months, etc. We noticed that he gravitated towards playing with wheels and liked to spin a lot but didn’t think it too outside the norm. We have a family history of sensory processing issues so attributed many of the quirks to sensory. He had some difficult behaviors, but he was 2 years old and a very rambunctious boy. It wasn’t until he was about 2 1/2 years old that we realized there was a problem. Taz attended an integrated preschool classroom with therapists, a special needs teacher and “typical” children. Dragon had come with us and was at the table with one of the speech therapists for an activity. They watched him and started asking me questions. It was suggested that I go ahead and have him tested so that he could start school with them as soon as he turned three. I didn’t think much of it and thought that while he would need some speech therapy and maybe a little help with OT and PT that he would only go 2 days a week for half days like his big brother had. The results from the testing took me by surprise that he needed a lot more help than what I had originally thought. He would be in school for 4 half days a week and ended up with his own aide. Still we thought that his issues were mostly sensory and he would be fine by the time that he started preschool. He came so far the first year. Within 5 months, he had gone from some 2 word sentences and other words that we couldn’t understand, to 7 and 8 word intelligible sentences. His speech was still very slurred and difficult to understand but he could communicate. That alone made a huge difference in his behavior. I was asked several times if he was autistic and I responded that he was not, he just had sensory issues. I would get offended that people thought that there was something that wrong with my son and couldn’t see him for the fantastic child he was. It wasn’t until I got to be friends with a woman with two children on the spectrum that I started wondering if I had been wrong all along. I started asking more questions and was guided very gently into the idea that he did in fact have some form of high functioning autism. We made the appointment with a Child Development Center to have him evaluated. We made the initial phone call in early September and were told that questionnaires would need to be completed by us, his teacher and pediatrician. They would then be reviewed and we would be notified if he should be evaluated but they were scheduling for November and December. We got all the paperwork submitted and scheduled an appointment for early November. He was just diagnosed two weeks ago. The evaluation process was simple. He was seen by two physicians with pediatric psychology specializations. They watched him play, asked questions, conferred, gave us the diagnosis and answered our questions. It was about a 3 hour process and relatively easy given all the other evaluations we’ve been through. He was given the Autism Spectrum Disorder diagnosis with an underlying neurological issue. They referred us to a neurologist and a physical therapist to be evaluated for orthodic inserts to help him walk more easily. We were fortunate to see the neurologist last week and were told that his autism was most likely genetic and the hypotonia and mild intentional tremor were likely due to the way his brain is wired. We have orders for a blood work panel to rule out low hormone levels or vitamin deficiencies. We also have a prescription for a chromosomal array if our insurance covers it to rule out more common genetic causes for the tremor and low muscle tone. He is already in a special ABA classroom in our local school district and receives Speech, Occupational and Physical Therapy. We are very pleased with his progress and trust his educators and therapists. We have also signed up with our State’s Department of Mental Health to explore further options. Our first phone call was to our insurance company and we were told that we have no mental health coverage including being followed by a neurologist in relation to the autism diagnosis. So if we do need to look into additional therapy, it is going to have to be through the contacts provided by the state. We expected the ASD diagnosis, however the tremor was a bit of a shock.
Long term, we have things that we need to work on but Dragon has a great personality, is quite social and he has a lot of potential.
Growth Hormone Deficiency in Diagnostic Phase
My husband and I have always known that we wanted children. By the time Dragon was 2 years old and had shown no signs of growth hormone failure, we decided that it was now or never if we wanted a third child. I had a Mirena removed and we were planning on waiting a few months before trying. I became pregnant right away and miscarried on Valentine’s Day. We were told that it was okay to go ahead and try again. Once again I became pregnant and miscarried Easter Monday of the same year. After having the Mirena removed, I no longer made enough progesterone to carry to term. I got a wonderful birthday gift for my 35th birthday. I found out I was pregnant again. We were cautiously optimistic and I took progesterone to sustain the pregnancy. Things progressed beautifully until 23 weeks, when I started having contractions and my blood pressure started climbing. He was too big and I ended up in a maternity support belt which got me through until 36 weeks, when once again my blood pressure, which had lowered, started climbing again. At 37 weeks, I started having contractions and although I went in and was monitored, they were not progressing. I was put on bed rest and scheduled with a high risk OB/GYN. At the measurement ultrasound, he was estimated to be 9 lbs 12 oz. I then had to wait the weekend before the follow up appointment. I was told at the appointment that he was too big to be delivered safely due to the breadth of his shoulders. I had a c-section that evening and we welcomed little Pidge into our family. He was a whopping 9 lbs 13 oz at 38 weeks. I was glad that I had finally agree to the c-section as his shoulders were too broad to have fit. After he was born I asked the nurse how many fingers he had. She thought it an odd question but counted anyway. He had 12 functional fingers. We had seen areas on the ultrasound that caused us to suspect that he had polydactyly as early as his 20 week ultrasound. The suspicions were confirmed. We had already decided that if they were functional and not detrimental to his development that we would leave them alone. He became the first in memory of my husband’s family to have functional extra fingers. He was beautiful and we couldn’t wait to introduce him to his big brothers! As he got older, it became apparent that his demeanor was the easiest of our 3 boys. We were looking forward to watching him get older and start playing with his big brothers.
At birth Pidge was in the 97th percentile for length, measuring in at 21 1/4″. By 2 months his growth had started slowing but given that our genetic potential puts our children around the 60th percentile, this wasn’t overly concerning. By 4 months, he had dropped to the 40th percentile for length but his head circumference and weight remained on the same track. Given our family history we were given the option of going ahead with a referral to our endocrinologist or taking a wait and see approach. In shock that this was happening again, we decided to take the referral. It would be 2 months before we could get into our doctor for an initial evaluation. Because our pediatrician does not use a measurement board to measure infant length, we did not have a confirmed growth chart or enough evidence to support slowed growth. They simply lay the infants down on the exam table and mark head and feet, then measure the distance between the lines. Usually this doesn’t make a huge difference but in our situation we had to wait an additional 3 months for a second measurement to confirm the slowed growth. In our case it was somewhere between no growth and 1/4″ in the 3 month interim. The tests that were ordered before the 2nd appointment confirmed that his growth hormone levels, although in the normal range, were on the low side. It is not a very accurate test to confirm low growth hormone in infants but it is necessary to move forward to the stim test. The low levels were not a surprise, but the lower than usual thyroid levels were. We have a stim test scheduled in 2 weeks and from there it will be another week to get the results, then another few weeks to have an MRI, followed by another week or two before we get a formal diagnosis and can discuss therapy. From there it will be another month or so to get insurance approval. At this point, the wait that is the most frustrating aspect of the diagnosis. We have watched and are watching our son getting further and further behind in his gross motor and fine motor development. Having been through this once before, it is difficult knowing what is coming and having to let it happen. We know that he will be just fine with GHT and after getting physical therapy and we are trying to do some PT at home ourselves. Thankfully, he does not seem to have some of the sleep issues that Taz had. He still wakes up once a night for feedings but not until 4 to 5 am, so our days begin early.
Given that we have two children with the same symptoms we are aware that there is some form of a gene linked syndrome, but we have as of yet been unable to determine which one. Depending on insurance coverage, we may or may not go through with genetic testing. I have found one particular syndrome that fits many of the characteristics we have seen, but cannot find more information. I have to find time to head down to one of our university libraries in order to check the journals for the full article. Right now we are just looking for patterns to try to link the known family issues to what we are seeing expressed in our boys. I am also trying to research to see if there is a link between our boys and autoimmune disorders. We will just have to wait and see what happens over the course of the next year or so.
All three boys have distinct personalities and they seem to compliment each other beautifully. Dragon masterminds mischief while Taz is our problem solver and action man. Pidge watches everything and has started joining in as he is able. All three boys are bright and inquisitive and keep us very active trying to stay ahead of their antics.
Where we are now?
We have just received Dragon’s ASD diagnosis and are determining the best course of action for his continued therapy. Pidge will be undergoing stim testing in a few weeks. Our oldest, Taz is also being tested for ADHD.
What have we learned?
Life happens and we try to stay positive and take days one day at a time.
Our house is wild, somewhat chaotic and full of laughter.
Our house will look messy for the foreseeable future.
The boys will all be just fine as they get older and by the time that they reach adulthood, it will not be readily apparent that there was ever an issue.
All parents need a support network and a way to vent. This blog is my way of expressing our emotions.
How do our children influence our lifestyle?
I started researching natural cleaning methods while I was pregnant with our eldest son and I have always loved gardening. We started our garden slowly but really expanded it after Dragon was born. Sadly with everything happening our garden has suffered greatly these past few years although we’ve been trying to add perennials each year. I had a natural skincare and soap making business, currently on hold, that provided us with our skin care. I also started making all of my own baby products. This year in response to many health concerns, we also started making more of our own remedies for common illnesses. Also, given the environmental impacts that commercial cleaners, home goods and kitchen equipment make on the immune and endocrine systems, we have made some big changes. We now make our own cleaners, use cloth and switched to using cast iron and stainless steel cookware. Nutritionally, we eat a much higher protein diet, non processed diet. We still have a long way to go, but feel that we are on the right path.
We are sharing this story, not as conversation fodder, but in the hopes that others going through the process may have some of their questions answered and in the hopes that there may be someone able to share information with us.