Help Aidan Get Well
Aidan is a ten year old boy from Elizabethtown PA that at the age of two was diagnosed with a rare incurable disease, Hypophosphatasia. There is very little known about this disease. This website was originally created in 2004 by one family to find a doctor who knew anything about this illness. At the time Aidan's journey began the only two doctors we could find that knew anything about Hypophosphatasia were in Japan and France. The family spent endless hours of research to find very little in regards to a doctor or medical facility familiar with Hypophosphatasia. We have since accomplished the goal of finding a doctor in the United States. Aidan has a fine team of doctors located in St. Louis, Missouri that are working with him as well as other numerous children with similar and varying bone disorders through research trials, exams, comparisons, data collection and testing, until a treatment can be found. One of the other important things we found since the start of Help Aidan Get Well is that there are both adults and children in the same situation that we are. This website has changed several times and so have the purpose and the goal of it. It is an avenue and a means to bring awareness to a rare incurable disease, Hypophosphatasia. This disease needs more attention and research to help adults and children get well. Although the website is called Help Aidan Get Well it is for all families with this disease. When doing medical research the big words scare you to death, especially when you have to stop reading to continually look up their meaning and then try to process all of the information. We will do our best to present Aidan's journey in easy language hoping to make understanding a little easier. Hypophosphatasia, is an inherited metabolic (chemical) bone disease that results from low levels of an enzyme called alkaline phosphatase (ALP). Here is Aidan's Story.
Aidan Victor is a vibrant, intelligent, energetic, sweet, ten year old boy. This website will follow Aidan and his Hypophosphatasia journey. We welcome other kids and adults to come aboard. Please see Aidan's Hypophosphatasia Friends.
Looking back at Aidan from the time of birth to the time of diagnosis simple signs were noticeable, but blown off initially simply for the sake of being unfamiliar with such an illness and further having the diagnosis be clouded by having a "blame factor" for strange peculiar occurrences. The first concern that was evident that was not quite normal with Aidan was that his frontal sutures remained incompletely closed leaving approximately a "soft spot" of about the size of a fifty cent piece even at a year old when typically the sutures would have become fused by then. Another key sign was that Aidan never even began to show signs of ANY teeth erupting until just shy of a year old which was late for teeth to begin showing. Both factors were discussed with his regular pediatricians multiple times on well-child visits but shrugged off and an explanation was given that, "the teeth will come, no worries, and with his sutures being open- his brain has that much more room to grow so he will be that much smarter."
When Aidan was a little over a year old, he experienced trauma to his mouth in which affected the continuing of his only two teeth that were visible- but not even completely in- to stop growing and remain just barely pushed through his gum line. We were unaware initially that these teeth were "affected" in this manner. Aidan then continued to get a few more teeth as he grew between one and two year's old- seemingly then to be normal again with things coming together which seemed to be peculiar initially. Then one night he was playing with the family dog (which is the size of a small horse but as gentle as a lamb) and he got knocked ever so lightly onto his bottom on the carpeted living room floor. Sure enough this simple fall had resulted in one of his top front teeth falling out. This was the first time he was introduced to a pediatric dentist. With the given history of the prior fall, even though this was not one of the teeth that was present during the fall, the dentist attributed this tooth loss to the fact that the tooth must have been on its way through the gums and knocked loose from the trauma. The family accepted that answer because it was seemingly logical. Then a few months later, a simple trip up a step resulted in the loss of another one of Aidan's teeth. Again the cause of the tooth loss was attributed to the fact of the earlier trauma experienced though this was not one of the teeth present during that period. Reluctantly the family again took that explanation and walked away disappointed but accepting of the noted cause. It was probably this period that we really started to beat ourselves up wishing that when the initial trauma happened to his mouth that we sought out dental evaluation in hopes that had we been proactive instead of now reactive something could have been done to save his two now lost teeth. This began to be a nightmare. A few weeks later another tooth fell out by a simple rough housing play session. We trailed back to the dentist again. It was this time that we were given yet again the same answer and pointing the cause at the same cause of the other two that we became more suspicious and less accepting. We challenged the dentist with other causes, reasons, factors, and got no where. At the same time we were being told they couldn't say how many teeth could have been affected from the fall or what would happen to the partially in teeth in which the growth had seemed to stop and what the future would hold for his permanent teeth.
It was at this point that we hopped around to several dentists. Two pediatric dentists later, we finally got to one that would listen and who willingly used his resources and looked beyond the obvious cause which was evidently holding us up on a later diagnosis. While he continued to compile data and research possibilities to the cause Aidan continued to loose two more teeth to make a total of five lost teeth at this point. After several long data collection sessions on familial history and on Aidan's complete background, long grueling examinations, x-rays, bloodwork, and multiple brainstorming sessions amongst the dentist and a Children's Hospital physician, and lots and lots of research, we were told that the loss of Aidan's teeth was then believed to have nothing to do with his fall and that he could have the possibility of three different diseases- Hypophosphatasia, a degenerative bone disease, being one of them. From a dental perspective Aidan fit the classic case of Hypophosphatasia by displaying large pulp chambers, long nerve endings that didn't implant into the bone, and early loss of deciduous with root intact. It was the medical part that we had to thoroughly work through and evaluate to see if his other symptoms and clinical data matched up with this particular diagnosis or one of the other 2 options.
To confirm this diagnosis and correlate Aidan's condition to a Hypophosphatasia diagnosis the family called on the help of his pediatrician. She ordered further blood work to see if any levels were abnormal. The results were originally called to the family and we were told the Alkaline Phosphate level was abnormally low, but everything else looked fine, but no special attention or further workup was necessary or indicated based on the pediatrician's perspective. It was then that the help of a well-known physician, Dr. Morton was requested. Dr. Morton is world renown. He has won the Pulitzer Prize, been named by Time Magazine as the Hero of Medicine, and he helped to develop a treatment for Maple Syrup Disease, a disease mostly prevalent in Mennonite people, and further goes on to work with hundreds of patients with varying unknown genetic anomalies. It was out of a simple request made to Dr. Morton to please print up Aidan's blood work results so I could view them myself and look up causes for the abnormal level. He printed them up as requested, and then I further asked him to quickly eyeball them and see if he could pick up anything by a quick glance based on the results, as he was a busy man and I did not want to take up his time. It was literally within 5 minutes of him looking at the lab work results that he was able to pinpoint Aidan's condition to Hypophosphatasia and to pull up what few articles were out there and available. He willingly read and did some research himself about the prevalance of this condition, the effects of it, the science behind it, and research and work being done with it and by whom.
Initially Dr. Morton invited us out to his clinic in which he performed an exam of his own, blood work, x-rays, and a bone scan on Aidan himself. He further went on to have his Lab Director, Erik Puffenberger, PhD perform genetic testing on Aidan to map out his genes and search for mutations- the specific mutation that was linked to this diagnosis. It was through this the uncertainty of diagnosis was layed to rest. The gene mapping in fact confirmed that Aidan not only had one specific gene mutation linked to this illness, but he also carried another gene mutation as well, that most people diagnosed did not carry. It is through Dr. Morton's research and established connections that we were fortunate enough to make contact with Dr. Whyte at the Shriner's Hospital in St. Louis and were invited to make a trip out to be evaluated and linked to his current research. It was in 2006 that we made our first trip out to St. Louis to meet Dr. Whyte and his research team and to undergo testing.
As of October 2013, Aidan has lost several more teeth, leaving him currently with a total of 12 teeth (2 of which are permanent), most of which are loose. We are so excited. Now we just have to wait out time to see if his molars continue to stay strong and remain permanent for their normal lifetime. We are also anxiously awaiting his top two front teeth to come in. The dentist is choosing not to use the partial plate for Aidan, as they think it may hinder the natural growth of his permanent teeth, and she thinks it will socially impact him causing him to withdraw and to become fearful and uncooperative at the dentist. Currently we are choosing to allow him to continue to compensate with what he has. With the loss of so many teeth it is becoming more difficult for Aidan to eat, especially some of his favorite foods. Mom is compensating very well though, and seems to always find a way to make things work. Instead of being able to pick up a piece of corn on the cob and start chomping (one of his favorite foods) we have to first loosen the kernels with a knife so that they easily come off when his gums sink into the cob. Breaded chicken is now not breaded, we have to remove the outside breading to make it softer to bite. Ham and cheese subs have to have the outer "harder" layer of breading from the roll peeled off and the whole sub smushed together before he will attempt to bite into it. And frequently we are found eating lots of meals of pasta, an easy one to eat and "gum". A concern here is the fact that Aidan's diet seems to be one thing that is helping him along with maintaining a balance of his calcium and other electrolyte levels without needing supplementation and is monitored closely during our visits out to St. Louis, with food becoming a challenge that could change. For now Aidan is continuing to gain weight, eat a variety of foods, and function with some slight adjustments in a social setting. It seems, there could be some hope that all of Aidan's permanent teeth may come in normal. In May he had a panoramic view of his mouth performed which did show a tooth bud for every adult tooth he should get. Sadly, Aidan has already had to have coating placed on the outside areas of 2 of his molars due to the enamel wearing away along the outside bottom gum-lines. Aidan took it like a champ and understands the importance of brushing several times a day, as someone with this illness particularly produces an increased amount of saliva which helps to break down tooth enamel and cause plaque build up a lot faster than the "normal" child. The downside to this is the fact that Aidan is now realizing he has no teeth. He recently asked his mom, why she took his front teeth and he says he wants them back. Aidan says he just can't wait until he has teeth and can bite into things normally.
Aidan continues to go through periods where he complains of his legs hurting and feeling weak, stiff, and "sleepy". He often takes a while to get moving in the morning or at the end of a long day and frequently is being carried up and down the stairs and around until his legs are warmed up for the day or after they are worn out for the day. He often complains of his feet being "asleep" in the morning all the way up through his toes and requests frequent foot rubs to make the cramps go away. He complains of intermittent back pain, hand pain, etc. based on the amount of activity he has done in a given day. We just thought he had heard someone say this and he was just emulating them, but now the question is, is Aidan really hurting and does all of this tie together? Aidan seems to tire more easily these days and finds himself taking a "breather" relaxing for periods throughout the day, but he never gives up on anything he is attempting. He just has to rest a little in between on walks or bike rides to give a few examples. Even at the age of ten, Aidan continues to remain pale. Aidan seems to be finally gaining some weight this year. He is becoming buff. This could change things for Aidan, the more weight he puts on, as good as he looks, will add more pressure and stress to his bones. We could start to see changes in his ankles and legs as they are forced to endure more. Only time will tell if this is where the breaks and fractures will begin.
Aidan has a very competent team of doctors now. He has a pediatrician as all kids do, Dr. Morton, who originally diagnosed him and has stayed very close to our little boy, Dr. Whyte and an entire research team at Shriner's Hospital in St. Louis. A dentist Dr. Maria Meliton that is wonderful in treating specifics to Aidan's condition.
Aidan's journey has been a roller coaster. The road has had many bumps and many obstacles, but we always find a light at the end of the tunnel somewhere. Aidan's disease will always remain incurable, the best hope is for a treatment. Treatments are currently in the 3rd phase of research trials, but have not been offered to Aidan at this point in time until further trials, experiments, and testing can be completed.
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