Friday, November 18, 2011

Meeting The Miracle Man

This is our family with Frederick S. Kaplan.

He is one of the kindest, smartest, most AMAZING people I have ever met.

We started today getting lost in Philly. This place is insane. Beautiful, but completely insane. People literally park in the turn lanes and cut you off like crazy. We ended up getting to our appointment 5 minutes late when we left our hotel an hour early but we were happy to get there in one piece!

Once we were there we were warmly greeted by K, Doctor Kaplan's assistant. She was sooooo nice and really helpful in giving us lots of literature to read up on for after visiting with Doctor Kaplan.

We began our visit and Dr. Kaplan really wanted to get to know us. He asked about our family and Idaho and was just really genuine about wanting to get to know us.

Then we got into the questions:

{The following is based on the memories of today's appointment and the understanding that I got during our meeting. Not everything here may be 100% correct because of my own misconceptions. If something is off here, let me know!}

Q: Why do some kids have really misfigured toes and some don't? Does this have anything to do with how severe Addi's FOP will be since her toes aren't too bad off?

A: He said that he needed to be careful how he answered this question. He said that Addi has the classical variation of FOP which 98% of FOP Patients have. The other 2 percent have one of two other variations where one has no big toes and very severe FOP and the other has completely normal toes and milder symptoms. He also said that he follows 3 different sets of identical twins with FOP and that even though the children are identical DNA wise, their flare-ups aren't and it just kind of depends on how their FOP progresses. FOP is closely tied with our immune systems. If something goes off in our immune system and it causes inflammation it can become an FOP flare-up (ex: the flu). Since everyone's immune systems are different the toes aren't a good enough indicator on severity with the classical type of FOP.

Doctor Kaplan did a full check up of Addi and she looks really good. A lot of other FOP kids are born with other abnormalities in the skeleton and Addi looks really normal which is a great sign. We can't really tell if this is going to be mild yet but we know her case is not currently severe. Always looking on the positive side of things!!

Q: Why doesn't Addi get more flare-ups because she is so clumsy? How do we know the difference between a regular fall and flare-up type fall?

A: FOP goes through active phases and dormant phases. Right now Addi is probably in a dormant phase   {Thank you!!} but she has had a flare-up phase starting with her 6 month immunizations and THEN all those lumps she had all over her head at about a year old. We are really lucky that she didn't get another calcification in her right leg when I had her immunizations done at 12 months when I had them do the other leg because of the Myositis Ossificans! Dr. Kaplan said that 80% of injections result in FOP legions and that Addi can never have another intramuscular injection again. She is allowed sub-q shots under the skin but some immunizations can't be given that way so I am just praying that everyone immunizes their kids!

We really can't tell the difference between a normal fall and a flare up fall. Some people can get barely tapped and a flare up happens, some people fall off of a ladder and nothing happens. If the flare up is in a limb or near a joint we can do Prednisone but not if it is on the back. {Prednisone is a steroid that suppresses the immune system limiting inflamation} We will just wait to see if a flare-up comes up to see if we give it or not. The only case where we probably wouldn't wait to give it is if we were in a car accident or if she had some other very traumatic injury sending her to the ER.

Q: Do we put Addi in a bubble? How do we protect her?

A: We let Addi be a normal kid. We let her do what she wants but try to avoid contact sports. He said this is a lot easier in girls than boys. Addi should probably wear a helmet for most out door activities. She will probably need a modified bike one day and shouldn't have a real bike. When she goes to school she will need an aid to watch out for her and protect her at school.

Q: What causes the mutation? Where/ why did she get this?

A: This comes from a sperm or egg cell that has corrupted DNA. If a parent has a child with FOP there is a 1 in 300 chance of having another child with FOP as opposed to the 1 in 2 million that Addi is in.

Q: How painful is this?

A: It depends on where the flare-up is. There can be a huge flare-up on the back and it might not hurt at all because it has space to spread out. If it is in a limb it can restrict blood flow and has less space so they can be very painful.

Q: We have had lots of x-rays. Do we need to keep getting them to track growth?

A: No. Once FOP is genetically diagnosed there isn't really a medical reason for them. We might take some again if we go into a clinical trial but we don't really need them for anything FOP related.

Q: What treatment options do we have right now?

A: Right now there isn't any real treatment. Addi is on Naprosyn which essentially is Alieve. She is on 3ml twice a day. Doctor Kaplan said that this is very good. He said that this will limit inflammation without much side effects. We probably will need to do a blood test for her kidneys annually as a precaution but that this was an good choice as a preventative measure.

Right now there is a LOT of HOPE in the research world. One is medicinal with a type of medicine similar to Accutane that would keep FOP at bay and the other would be a medicine that follows the BMP pathways and turns the FOP Gene ACVR-1 off, essentially providing a cure.

The first comes from a study of four different molecules found in Accutane and one of the four molecules actually does shut down FOP. The problem with this one is that this molecule is owned by a pharmaceutical company that just lost a ton of money on the molecule because it didn't do what it was supposed to in some emphysema trials. I asked Dr. K if he needed letters compelling the company to do the research for drug development and he said not quite yet and that it had to go up to the upper management first. He said though that if he doesn't hear something in the next month or so he is going to really get on their case and then he might let us write some letters... He said he could have "bus loads" of people for them. I would most definitely be on one of those busses.

Accutane is that old Acne medicine that had all of those crazy side effects with deformed baby skeletons.  You can't take if if you can get pregnant. We know that ACVR-1 involves the creation of the skeleton in utero and that is why researchers were attracted to the drug. Even if this pharmaceutical company does this drug development there are still lots of hurdles to jump. We have to find out what side effects could happen in little kids like Addi. But they already know that the molecule stops the bone growth so this could replace prednisone in a few years if all works right. This is in the short term a hopeful looking treatment. Dr. K couldn't put a time frame on this but hopefully in the next few years.

The second treatment that Dr. K talked about is the exciting long term "proof of principle" topic of interest that was just recently published. This seems like it is going to be the silver bullet but it is a long way out. You can read about it here.

With both of these we don't know what the side effects are or how much you take or how long... There are too many variables to even begin to think about. The good news is that Doctor Kaplan says that they now finally have the tools they need to figure these things out and that is half the battle. Tomorrow I will try to write about our tour in the lab explain more about these wonderful tools. Doctor Kaplan says that we have successfully made the move from hopeless to hopefull.

Q: How does Addi's bad leg with the ossified legion effect the good leg? Should we get her into physical therapy?

A: No. Dr. K doesn't agree with physical therapy. Occasionally things can improve with it but more often than not it will do more damage than good.

The two things that are most effective as "therapies" are swimming in warm water and and singing. The warm water is protective and relaxing and great excersise for getting the muscles moving. Singing, especially when children are trained to use their diaphragm is actually really good in for preventing breathing difficulties later in life. The lungs are endangered by bone formation in the rib cage but the diaphram is generally free from those risks and serves as a good support system for getting more oxygen in the body. Anybody have a good voice teacher or swim coach for Addi? I'm thinking she is going to love both of these activities...

Q: Is there anything we can do nutritionally for Addi? Low inflammation diet with low sugars?

A: Not really. Dr. K saw a little boy for several years with some pretty severe flare-ups in his early years and then didn't really hear anything from him for years and years and years. He saw him again at an FOP  conference at age 18 and he hadn't had any flare-ups. Dr. K pummeled him with questions: What do you eat? What do you drink? What do you breath? What makes you different than everyone else? The answers-- nothing much. Did pretty much everything that everyone else does. FOP is just a very mysterious monster and we don't know what keeps it at bay.

Dr. K did recommend staying away from lots of sugar from a preventative dental standpoint. Cavities are very dangerous for FOP patients because the jaw can seize up.  Dental injections are forbidden.

Q: Addi's teeth? What can we do?

A: Brushing, fluoride, and sealants. Dr. K wrote Addi a prescription for sealants on her baby teeth. Usually insurance won't cover them unless they are on permanent teeth and my friend who is a hygienist says they run about $30 per tooth in idaho. Hopefully insurance will cover this now that it is prescription.  Prevention is key to the safety of FOP kids. Dr. K recommended Dr. Crowe who sees all of the FOP kids in the Philly area. She is willing to consult with any dentist of an FOP patient and can be found in the FOP treatment guidelines book.

Q: What about braces to create an overbite incase of jaw lock up?

A: Most FOP patients tend to develop an overbite anyway, but we will just watch her mouth as she grows. We really don't need to worry about that yet. An overbite is really useful for feeding if the jaw locks up.

Q: What do we need to do about check ups? How often do we need FOP check ups?

A: We just treat Addi like a regular kid. Take her in to our local pediatrician for her regular check ups and look at the regular things. If a flare-up does happen we should take her in and have her looked at and assess if she needs prednisone or not.

Dr. K said that he would love to see Addi every year but because of the distance involved knows that isn't feasible and really isn't medically necessary. We might have FOP appointments for clinical trials in the future but those probably can go through our pediatrician or our doctor down at Primary Children's. He would like an email once in a while to know how she is doing... {I love this man.} and to maybe see us if he makes a trip out west.

Q: Who is Addi's Team?

A: Dr. Kaplan really just wants other doctors that are willing to collaborate with him to get Addi the best care she can get {totally love this man.} Her pediatrician, her dentist, Dr. Crowe, & and her doc at PCMC will be her "team".

I could go on and on and on about how wonderful this man is. He spent over 3 hours with us visiting with us on how life goes on with FOP. What doctor will visit with you for longer than 15 minutes, let alone nearly 4 hours??? Oh, and by the way, he also went and bought Addi some milk at the cafeteria because she was getting fussy and wouldn't drink water and then went with us to lunch and PAID for our lunch. I felt a little awkward about this but how kind is that?

This man has pictures of EVERYONE with FOP in his office. You can see the love oozing out of him as he talks about each one of "his kids". I asked him what got him into FOP. Apparently he was head of a clinic that dealt with metabolic bone diseases-- the stuff no one else wanted to deal with. He eventually ran into two older ladies with FOP and had them as patients. One day a genetic researcher came to him and asked him if he would collaborate on FOP with him. Dr. K wasn't to interested in the research aspect but this other doctor invited him to come look at a child who was being diagnosed with FOP and Dr. K said that when he saw this child it really struck a chord with him. He the older ladies to visiting the 9/11 memorial and knowing that what happened was catastrophic in nature. Seeing the child for him was watching the plane hit the towers. It made it real for him in a way that compelled him to do something about it. I am so grateful for this child inspiring Dr. K so that my child could be so blessed by this man's expertise.

It is now 1am and we have a long day of sight seeing in the morning... The point is this guy is a saint and an angel. He is the grandfather of the FOP family and is very involved in the loving and healing of all these kids. He is a face of hope. LOVE this miracle man.


  1. Thanks for keeping us posted in such detail, Shannon! Sounds like an awesome visit with a super awesome doctor. Love you guys!!

  2. Wow!! I am so glad you got so many answers and so much Hope!! That is seriously priceless. And such a miracle that you found such a good doctor for her and a great team! Thanks for the update. Enjoy the rest of your trip! HUGS!!

  3. Now this was interesting, but considering how isolated I am it's not surprising I found new information here. IE: I thought that parents had the same odds as anyone else in having a second FOP child, and that is was merely a fluke. So if I had chosen to have another child after Chris (my FOP son), then I had a greater chance of having another one. I never knew that! I do not, however, agree on Accutane therapy, not after doing my own research. I had one doctor here who wanted to put Chris on 4 times the recommended dosage for adults, and at that time Chris was only 7 years old. It would have completely destroyed his liver and kidneys. Basically, I know of no treatment for Chris, so the only meds he took were 222's for pain during really bad flare ups, and that's about it. He's 21 years old now.
    Thanks for this was very informative for me.

  4. Happy Tears :') Hopeful, wonderful news. You sound good. I can't wait to love on you all next week. See you soon, Love, Mom xoxo

  5. Hello! I have a boy, soon turning 4 years old, with FOP. It's wonderful to hear someone explain in their own words what dr Kaplan says, so thank you for that! Elin (from Sweden)

  6. Shannon,
    I used to work with your wonderful mom and heard the entire story of the adoption process, you getting Addi (she is about 3 weeks younger than my Finn) and I was so excited for you, Darren and Susie!! Addi's milestones have been happening at the same rate as Finn(Addi is a little more advanced with everything though I have noticed! :)) so I can just imagine how I would feel if little Finn got the same news. When I heard about Addi's diagnosis I was so sad for you, Susie and Addi. Now, I know this journey is going to be lifelong, but I am so glad that this Doctor took such an interest in the disease and now you and your little precious girl. What a will continue to be in our prayers her in Minnesota.

  7. Thanks for this post, it's so helpful to hear how other families are living with this condition. We are blessed that Oliver has been ok so far, but like you we live each day at a time and hope they find treatments and cures soon.


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