Treatment: PT using MedX per Mooney & later, McIntire research

[Pooka1]

A Mom such great news!

I guess it is always so important to get several opinions, especially when talking about rare conditions.

What a roller coaster.

[AMom]

HPP in the picture again

Attended the MAGIC Convention; it was incredibly illuminating. The speakers were outstanding--and nice too. It seems that what is "known" about childhood and adult HPP is minimal and some of it is wrong. While at the convention, I learned that my daughter's symptoms were shared by EVERYONE in the room, except for her super low GHD. Symptoms I hadn't considered to be a part of HPP were discussed and then explained by the geneticist. They are working to obtain a list of symptoms from all non-peri/pre-natal individuals. So far, there are 86 people participating in the survey world-wide. I have requested some specific labs to r/o the disorder, but am not getting any type of response from our endocrinologist so we are seeking another doctor who works with older people with HPP (not a doctor who just works with HPP babies).

The geneticist thinks it is possible Rhea has two disorders: HPP (ultra rare) & GHD (rare).

BTW, the high B6 & low, "but not low enough" ALP tests are not definitive as they were not specific enough tests. She did more labs on the July 26th and still needs two or three more labs to be ordered. Hoping for a clear picture within the next few months.

Worried about PE in high school though. If she has HPP, then she is excused from PE, however in California 2 yrs of PE is required by law so I am trying to figure out how to handle this until a dx r/o HPP. This is a problem as her response times are slow, i.e. the basket ball hits her in the face and THEN she puts her hands up to catch the ball. --She does not need any further head injuries. Oh, good news: while recovering from her head injuries she maintained a 3.67 GPA in high school and took 4 college classes (3 A's & 1 B).

Since starting low dose estrogen last month she has had her first "normal" menstrual cycle. YEA, for health reasons; BOO, for no fun.

We see Newton next week for their annual ortho follow-up. Hoping for no changes with regard to AIS and help for her sister's lordosis. When she stands against the wall and tries to push her back into the wall, can splay my hand and touch my thumb to the wall and pinkie to her back. It is getting worse every year. Back pain is worse as well.

[AMom]

August 2016 update

Scoliosis remains the same (slight difference in reading allowed due to different orthos reading results: Betz & Newton.
Newton said:
cervical is 13 degrees now --Betz said a small curve, but we never asked the size b/c we were so relieved to not need surgery
thoracic was 35 degrees and is 37 now --I think Betz said 34 degrees
lumbar was 32 degrees and is 33 now --I think Betz said 30 to 32 degrees

Her visit wasn't any more informative than her sister's visit.

What a waste of time.

We are being sent to Nashville, TN to see a doctor that works with childhood and adult HPP to r/o (or dx the disorder). We've spoken to several geneticists and so far the consensus remains that she appears to have a rare and ultra rare disorder. With these disorders, there is usually a lot of giving (different dx!!!) and taking (take a seat and wait . . .) before a final dx is agreed upon.

I did get to meet another MAGIC Foundation representative while in San Diego (1st about HPP and 2nd about GHD) and have to say they are consistently supportive via listening; informative with regard to providing literature and providing a list of doctors who treat various rare disorders; and professional with regard to their responses and come to think of it: response times. Very impressive and just what I need right now. I am thankful for their support!

A Mom

[AMom]

October 2016 update

We flew to Nashville, TN to see Dr. Simmons because she and Dr. Dahir see patients with Hypophosphatasia from all over the USA. The doctor requested she have a blood draw, x-ray of the long bones, and be seen by a PT in addition to forwarding all of the labs completed to date. Dr. Simmons patiently answered my daughter’s questions, reviewed the material and said that even though a number of her symptoms are like those of a person with HPP, she does not believe she has it. The ALP labs were low enough for the doctor to run a specific genetic test (results will be available in 8 weeks), but she said that it just to r/o 100%.

The estrogen medication is working as she has maintained a regular menstrual cycle for 4 months now.

Growth hormone issues haven’t been resolved, but the last test came back normal (it is normal for levels to change hourly and daily) so we are going to take a break from medical visits for a little while.

Lol, the high school has required us to have a form filled out by a doctor to allow our daughter to carry Advil for back pain each year, but this year we were told, “No.” Apparently it has always been against the rules for a teenager to carry 2 Advil’s on campus; she is supposed to leave class to obtain them from the health room every day (the health aide is gone for lunch during her lunch period). I am sure this is reasonable to . . . someone.

I am glad the thoracic and lumbar curves are remaining stable, but sincerely wish the cervical curve hadn't showed up after she quit growing.

A Mom

[Pooka1]

A Mom,

So good hearing from you.

It sounds like these rare conditions are very hard to diagnose. Hopefully your daughter does not have Hypophosphatasia and you can manage her symptoms on the meds.

You must qualify as a medical secretary by now after managing both your daughters. Lots of plates spinning.

Are your daughters looking at colleges yet or is it too soon?

Best regards.

[AMom]

How are your girls doing?

Thank Pooka1,

Because they are rare, most doctors don't see or recognize rare disorders and even if they do consider them, they only think of the "worst-case-scenario" instead of the entire spectrum. Remember, "Common advice to medical students: If you hear the sound of hoof beats, think HORSES, not zebras." But, parents of children such as mine are asking them to, "Think ZEBRAS for a change." To be fair, there are additional challenges b/c many disorders do not have a definitive test to rule it out.

Meds are managed. They carry only what they need for the day with a copy of the doctor's note and will call if a concern arises. I will be "that mom" if the school chooses to put obstacles in the path of my children's well-being and academics.

I doubt medical secretaries get paid what they are worth! Doctors either love me or hate me; there doesn't seem to be any "in-between" feelings. For example, when we went to TN, I carried a binder with labs organized by DOS, including CDs of imaging, and notes of visitation Q&A over the years. There is a cover sheet that is color coded to match the tabs and sub-cover sheets so scanning can quickly lead to the needed document. I try to be super organized so I don't waste their time and so there is enough time to ask the 3-5 most important questions. The girls also write their top 3-5 questions and give a copy to the doctor. Because I am a mom, I always fill the binder window of photographs of my daughter over the years. I bring it with me because all to often reports aren't forwarded to the doctor which usually causes the him/her to be frustrated and that isn't how I want to start a visit.

One daughter is looking at Berkley and UCLA and the other wants to attend community college and CSUB. I am looking into scholarships now. Looking for a silver lining made me realize that years of not being able to work (so I could take care of the girls) makes us eligible for lots of financial aide. There also appears to be small scholarships for scoliosis, Alpha-1, asthma, dyslexia, and left-handedness. I am going to have them write their personal statements and then I will hunt down every funding option available and have them begin applying. By the time they are seniors next year, they should be able to complete applications quickly--or at least that is the plan!

How are your girls doing?

A Mom

[Pooka1]

How are your girls doing?

A Mom

They are biology majors. One can graduate any time now but is picking up a chem minor and more classes first. She wants to be a research ichthyologist.

The other lost two spring semesters to depression/anxiety/"pure O" OCD so she is a year behind her sister. She could have graduated on time anyway because she brought in a lot of AP credits but she doesn't take a full load so she can keep her grades up. That's a good strategy. I told her the time doesn't matter but the grades do so go as slow as she wants. That all started soon after her surgery when she had a terrible reaction to the anesthesia. I am wondering if it was triggered by that. Whatever the cause, she will be dealing with it the rest of her life, a fact which slays me. It's treatable and can get much better but it is not curable. And the treatment is you just learn to ignore the intrusive thoughts; they never stop. She wants to go to grad school for animal behavior/animal psych.

Nobody dares talk about "good gods" in my presence. I won't be spoken to in that manner.

[AMom]

congratulations on your daughters' educations

Pooka1,

Absolutely agree, she can take her time. A few months or years now will not make a difference in the overall picture. I am sorry for the added stress she is dealing with, it cannot be easy for anyone in the family. Everyone is different, even twins. Some of our kids work hard and get what they earn, but others have to work even harder for the same thing. I am proud of both of your girls, one for adding a minor, and the other for being persistent; both will pay off in the long run.

And I understand your final comment as well. I neither blame a god for our daughters' health concerns nor praise one for their successes. It is what it is and we make the best of what we have--a good solid honest loving family.

A Mom

[Pooka1]

A Mom,

Thank you so much for your kind words. It is very obvious to me that you understand.

The girls go to the same school and live together off campus with all their pets. I suspect the one who is further along is delaying her graduation and move to grad school perhaps in part so as not to leave the other one alone. I am conflicted about this. Actually the one dealing with mental health was alone in the condo the first summer when she took calc and she aced it. So I think she can be alone though I bet she prefers her sister there. Either her sister or I came to the condo every weekend for those five weeks, though. After her sister graduates, I will probably come to the condo as many weekends as possible.

This is just delaying the inevitable... they probably will not go to the same grad school and have to start separate lives at some point. :-)

Good luck to you girls, A Mom. They have had such a caring and competent role model in you.

[Pooka1]

Actually my daughter said the mental issues started after she had swine flu which was about 1.5 years after her surgery. She refers to it as "the swine of 09". Lol. I have been investigating if there are any reports of OCD and especially the "pure O" kind as sequelae to swine flu. Pure O refers to just having the intrusive thoughts without any compulsions. Because she has no compulsions like hand washing or checking a million times if a door is locked, she wasn't diagnosed right away. She just thought she was going crazy.

Nailing down the etiology isn't going help a damn bit but I am just curious.

[AMom]

Just Curious

... but I am just curious.

I too am always, "curious."

There have been a number of illnesses and disorders that have appeared shortly after a particular event in life, however, it is difficult to tease out the cause:
Did the antecedent trigger the concern?
Did it trigger the concern to appear sooner rather than later?
Did a series of events trigger the concern?
Was the cause age/ maturation related?
Was it caused by something else entirely?

There are so many factors involved that it will take time before these type of questions can be answered with any assurance. (Meaning, we are close, but I don't believe we are quite to the point of being able to answer these questions quite yet. And once we are able to answer them, someone will have to work through the permutations to figure out what single event/ multiple event/s that caused the concern.)

In the meantime, we chose our battles and move forward. --Hmmm, that sounds heartless, but it isn't meant that way.

Keep up the good work. Some times our kids need action on our part, but other times they just need to know we are there if they need us. It sounds as though you've got that part figured out and are acting accordingly.

Tell your girls that some Crazy California Lady is asking you to send her a picture of the three of you doing something fun together next time you go to the condo

A Mom

[AMom]

2011-13 PT done; 2013-16 stability confirmed per annual x-ray readings

We have officially finished using our MedX Core Torso Rotation equipment. As modified, it can fit a person between 4'5" and 7'4" tall. If necessary, a notched seat can be made at any upholstery shop reducing the minimal use height to roughly 4'3" or the original equipment can be reinstalled so that up to a 7'11" tall person can use it. I am selling it to back to the original salesman Tony Tribolet so if anyone is interested, the only way to purchase it will be to contact him at tony@fitstrength.com

Our daughter turns 17 this month so next year's x-rays results will probably be the last ones I will be able post. We are all hoping it will mark the 4th year of stability after finishing use of the MedX CTR & BackStrong VARC.

A Mom

[Pooka1]

AMom, in terms of how to interpret your daughter's PT work, correct me if I'm wrong but she was skeletally mature during much of not all of the PT, yes? I can't remember.

[AMom]

maturation

Pooka1,

Good question.

I reviewed this thread to answer your question: (Risser = R and Tanner = T)

2010 R=0, T=1
2011 R=0, T=2 Began PT
2012 R=?, T=3 Continue PT
2013 R=4, T=4 End PT
2014 R=4, T=4
2015 R=5, T=5
2016 R=5, T=5

Her Risser moved from a 0 to 4 during her PT; it is my understanding (correct me if I am wrong) that a Risser 4 usually lasts about 1.5 to 2 years. I would have preferred 2 more years of PT, but accepted 1 more year of PT if her accident had not happened. So no, she was not skeletally mature during most of the PT. I was worried that stopping it at the beginning of a Risser 4 would "be too soon" and that her curves would start progressing again, but we got lucky.

A Mom

[Pooka1]

Okay thanks AMom. Good to know.

Do the doctors think she as AIS or something else associated with her other issues?