Hypophosphatasia

Hypophosphatasia is a rare and sometimes fatal inherited metabolic bone disease. Wikipedia offers a very informative look into this disease of mystery. Their website offers a definition, causes, diagnosis, (which every one has wanted defined), symptoms and solutions to help with the effects until a treatment can be found. Subnormal serum activity of the TNSALP (tissue non-specific alkaline phosphatase) is caused by one of 204 genetic mutations identified to date. In Aidan's case his gene mapping proved to be rare. Aidan has two gene mutations, which at the time was unheard of. One study estimated the live birth incidence (the rate or range of occurrence or influence of something, esp. of something unwanted;) of severe forms to be 1:100,000. In the Mennonite population in Manitoba, Canada one in every 25 individuals are considered carriers and one in every 2,500 newborns manifests severe disease. Symptom presentation depends largely on age at initial presentation, ranging from death in utero to relatively simple problems with dentition in adult life. Hypophosphatasia is expressed in utero as profound hypomineralization that results in caput membraneceum, (absence of ossification of calvaria and bones of the skull base) deformed or shortened limbs during gestation and at birth, and rapid death due to respiratory failure. Stillbirth is not uncommon and long-term survival is rare. Neonates who manage to survive several days or weeks suffer increasing respiratory compromise due to rachitic chest disease and hypoplastic lungs, and ultimately, respiratory failure. This part is personally scary, because Aidan gets frequents colds, (many times I thought he had pneumonia) and at times he literally cries when he coughs that his chest hurts severely. This has been recurring since infancy. Cranial sutures appear to be wide, this reflects hypomineralization of the skull, and there is often "functional" craniosynostosis; and if the patient survives infancy, these sutures can permanently fuse. We speak of Aidan's unclosed sutures in his story. Our insight into Aidan's journey began after his very first tooth fell out, that would classify him as infantile Hypophosphatasia, but it took a year and a half for the diagnosis to come. Wikipedia speaks of escape notice or misdiagnosis. Mortality is estimated to be 50% in the first year of life. It seems that there is something in Aidan's body that is compensating the effects of Hypophosphatasia in his body. Sometimes due to the unknown factor patients are sometimes diagnosed with Osteogensis Imperfecta as opposed to Hypophosphatasia, this case study may prove interesting to you. It does a comparison of the two. Promoting Access to African Research. Another link that could be useful is one that will classify the six clinical forms of Hypophosphatasia that are currently recognized: perinatal (lethal), infantile, childhood, adult, odontohypophosphatasia and a rare benign prenatal form characterized by in utero detection but much better prognosis than other prenatal forms. There is a table that you can click on that will provide the six clinical forms, their inheritance, whether autosomal recessive, or autosomal dominant. One thing that is not emphasized enough in the information or articles provided are the fact that in adults, Hypophosphatasia can be physically debilitating.

I usually do not chime in with personal thoughts, but as I sit here working I feel there are some thoughts I would like to share. When Help Aidan Get Well first started there was almost no information on Hypophosphatasia, (or that we could find) other than a description and a brief history. As the story says, in the beginning the website was created because we were looking for a doctor that knew what Hypophosphatasia was and how to treat the incurable disease. Through perseverance we have accomplished bringing awareness to Hypophosphatasia and raising money for education and a treatment. It has been a long road and has not been easy and there is still a LOT of work ahead, but we are making strides and that is what keeps us going. One of the biggest obstacles and believe me as you know if you are a Hypophosphatasia friend or loved one of someone with HPP, there are many, is getting people to come forward. I know you are afraid, the biggest fear being that your health insurance will not pay for the care you need. You look at exposure as being a detrimental factor in your future. Aidan's family was faced with the same fears that you have. We also struggled with the fact that we were making an innocent child a public figure. Sadly, in today's world we have to worry about stalkers and child predators. In the end, Aidan's family took the chance. Just like so many of you, we couldn't find the help we needed, so we had to take a chance that the help we needed would find us. The most important question became, what will I do to save my little boy. The answer for Aidan's family was whatever it takes. Mom would do anything and everything to fight to save Aidan. I asked this question on a poll on our Facebook group page, Help Aidan Get Well (Fight Hypophosphatasia), "what would you do to save your child or yourself?" Multiple choice answers were given and everyone who took the poll came back saying, I would do anything. At a 3 day fundraiser we had a very informative HPP poster including pictures of Aidan's Hypophosphatasia friends, listing only first names and the state they were from. So many people stopped at the poster to hear their stories and ask questions. Times are changing and I like to think Help Aidan Get Well is a large part of that. Advocacy groups are working to raise awareness and funding, educate and engage more medical professionals and to change health bills. The more information we have to offer, the more help we can obtain. Our symptoms page is an intricate tool, by showing doctors what symptoms patients have that they may not yet have identified or associated with HPP. It also provides insight to the medical supply companies regarding the need for equipment that could better the quality of life for our Hypophosphatasia friends. It is a known fact that visual tools have impact, (seeing is believing). Higher numbers get more attention. I am asking you to consider being one of Aidan's Hypophosphatasia friends. Together we can make a difference. We will continue to fight for all Hypophosphatasia friends and we will succeed. Please feel free to show your support for what we are doing, by coming on board and being a part of changing the world of Hypophosphatasia. Thank you. Darlene

You asked and we have answers! We would like to thank Dr. Michael Whyte for providing us with answers to our hpp friends' questions. We have now created a questions and answers page, which we will update as we have more questions and get more answers. We have also attached the alp level range chart provided to us by Dr. Whyte in his first answer.

We are working on gathering a list of doctors that can help our Hypophosphatasia friends with their care and to help them get well. When Help Aidan Get Well originally started we only knew of one doctor, we have now found five. As we find new doctors we will share this information in the hopes that patients can find care closer to home. It is difficult for some of our friends to travel the distance to get to the care that they need. This is our most current list of the doctors we have found.

One of the things our Hypophosphatasia friends thought would be important is a list of all the symptoms that HPP patients have, whether it is a recognized HPP symptom or not. We are looking for commonalities in the symptoms, perhaps showing more common symptoms than are known, hoping this may help with further research. We have been working on compiling a list of symptoms, some showing the ages presented, based on some of Aidan's Hypophosphatasia friends.

I found this site on the internet and wanted to share it. It is very interesting and very enlightening. It shows numerous pictures of Hypophosphatasia in different stages. Pictures also present the effects of the different types of HPP. You may also see some familiar faces. You have the availability of clicking on different headings that will group the photos accordingly. Clicking on the different pictures will also provide you with the origination of the picture, providing you with more information as to what the picture represents. The search was simply Hypophosphatasia pictures.

Right Diagnosis offers an abundant amount of information on Hypophosphatasia. A few of the topics listed are; symptoms, causes, misdiagnosis, and treatment. Please remember when using websites to always read their terms of use. Most of these websites are for educational purposes and by no means replace a medical professional.

Diseases database shows a list of articles on Hypophosphatasia.

Here is an interesting article on Sanford Burnham's website Exciting clinical trial news for children with inherited bone disease. The picture says a lot. The article is dated March 8, 2012.

We all want to know the latest on Hypophosphatasia and we are always trying to learn more. Pubmed.gov is a website that can provide valuable information to us. This site provides current and past published information. I would like to say thank you to a very dear friend who advised me of this website. To make it easier, we directed it to Hypophosphatasia information, however the site itself is pubmed.gov., once on the website if you type in Hypophosphatasia, you will get three choices; Hypophosphatasia, Hypophosphatasia review and adult Hypophosphatasia.