Surgery is scheduled / Recapping the year!

In many regards, it has been a very long year and 1 month. There have been so many ups and downs along the way. On Tuesday we got word from the doctor that clarified some plans and made our day. Almost exactly nine months ago we were given a firm diagnosis for Alex, something we had never heard of, something even most of her doctors had never heard of. That has presented its own challenges. We realized we needed to carefully advocate for Alex, even as her wonderful doctors freely gave us information and answered questions. This included telling us there are approximately 300 people in the world known to have this disease and there is much that is not yet known as well as much trial and error involved in moving toward a treatment plan. We really had no idea how true this would be or how challenging it would be to advocate for her. We learned quickly how to navigate conversations with the doctors to make sure we were communicating fully in the short amount of time we had with each of them. It really has been a new world for us all.

In September of last year, we first heard the standard treatment plan for this disease and began to gather information on the different options. Alex's doctors continued to answer questions and give us information as they walked with us, helping us navigate the many questions about the long term affects these medical therapies and surgical options would have on her. One of the hardest things for us to accept was that many of the medications used to manage the disease have short histories. Therefore, a common response to our queries has been, "We just don’t know". Through doctors and social media, we have been able to connect with other parents of children, especially girls, who have dealt with this before us and have been willing to share their personal experiences with us. This has given both comfort and concern.

I would like now to give more details of this disease, the options that we have been given and some of the reasons we have chosen to pursue this treatment plan. Gorham-Stout Disease is a Lymphatic Malformation in the Vascular Anomaly family of diseases. It causes her body to create an overgrowth of vessels, mostly lymphatic channels, inside the bone marrow cavity of her left femur. In her case, these vessels have also left the bone and begun to spread in the muscle. For most people with this disease their ribs, spine, and skull are affected. We are very thankful to be able to confirm that Alex does not show any sign of disease in these areas, only her left femur and the small patch of muscle. In many ways, this is a blessing for which we have often thanked God. Several rounds of MRI imaging have shown small spots which were possibly new diseased areas, only to be completely gone on the following MRI. These have been determined to be stress-related. The most recent MRI showed a spot on her arm. The doctors believe this to be stress-related as well, but will make sure with an MRI August 3rd. In January we agreed to begin the standard protocol, a low dose chemo medication, with the hope of keeping the disease from causing her femur to deteriorate further. Alex has struggled with side effects, and although her dose has been raised three times, she has still not reached therapeutic levels. Starting this protocol has allowed us time to continue to research options, get more imaging, second, third, and fourth opinions, and feel confident in a decision before moving forward. To be truly honest, we got many more than fourth opinions, some quite helpful, and some truly frustrating. Thankfully, each one brought more clarity to our decision making. The first option and what is considered the standard of care for Gorham-Stout is to continue this medication to keep the spread of the disease under control. Our Vascular Malformation team has told us that it is unlikely Alex would ever be able to come off of this medication without the disease coming back stronger, in some cases.

Because of her disease affecting her femur and crossing her growth plate, there has been significant growth restriction to that leg which causes the difference in leg length between her legs to increase. This is not something that can be fixed, although there are things that can be done to match up the lengths.

Option 1. Kill the growth plate in the right leg and surgically match the two legs by removing a part of the right leg so they are the same length. This would leave her shorter because her legs would not grow anymore. Option 2. Wear a block under her left shoe that would be increased as the difference increases with the growth of her right leg, until the difference becomes too great. At this point a prostheses lift would be able to be attached at the bottom of her foot to raise the height. These are typically used in children who are born without part of the bones in their leg and need significant lift.

Option 3. Limb salvage and lengthening surgeries, although at this point the bone is not healthy enough to be lengthened so she would need bisphosphonates for 1-5 years to strengthen the bones for this to be affective.

Her femur needs to be stabilized to keep it from continuing to fracture. There are several options for this part of the conversation as well.

Option 1. They would place a telescoping rod in the bone that would expand as the leg grows. One problem with this goes back to the previous discussion of the growth plate being damaged. Since the leg does not appear to be growing this may not be the best option. This rod would need to be replaced by a pediatric nail and then replaced by an adult nail down the road sometime.

Option 2. This option would replace the bone with a growing internal prosthesis but could not be done until she is at least ten because the technology at this time cannot allow for enough growth to get her from age 5. The hardest part of this option is the studies her doctors gave us which show these types of prostheses have only a 20% failure-free success rate at this time. Often the failures can be repaired with other surgeries or replacements. She would also need hip and knee replacements for this prosthesis to work. There is certainly hope that down the road this technology will improve but this is what we have right now.

Option 3. We could manage the disease using medical therapies until she is full grown and then replace the bone with cadaver bone for her femur along with hip and knee replacements. This option comes with an increased risk of infection. Option 4. She could have a hip disarticulation amputation. This procedure would remove the entire left leg at the hip. This type of amputation requires either the full-time use of arm crutches or a wheelchair or a prosthesis with three mechanical joints that wraps around the waist like a belt. It requires approximately 200% more energy to ambulate this type of prosthesis than to walk typically. Option 5. What we have chosen together, after much conversation, searching, and prayer is a surgery called, Rotationplasty. As every option has pros and cons, we have spent many hours exploring these and trying to make sure we understand as fully as possible the ins and outs of each option. Every option has a doctor who believes it is the best option and is the one we should choose. This particular option was not given to us at first because a traditional rotationplasty requires there to be a residual femur to attach to and in her case the entire femur is diseased and none of her femur can be salvaged if we are going to get rid of the entire femur. Our doctors only knew of this traditional Rotationplasty option so we had been told it was not something that could be done for her. While we continued to learn more about the other options, join support groups and talk to families and patients who were living with these options, we saw more clearly the pros and cons of each. It was in this process that we heard of a few children who had a modified version of rotationplasty where the entire femur is removed. This caused us to seek out these families and begin the process of getting in touch with some of their doctors to see if this could be an option for Alex. It is this process that originally led us to our Florida trip, which turned out to not be the right doctor for us, even though it was a wonderful trip and gave us a chance to gain more information. Another doctor we had been in contact with is in Baltimore. This man is such a godsend. He has connected with us week after week for 8 weeks, answering questions, looking at her imaging, sending her imaging on to other colleagues around the country, and getting their input, even contacting our doctors here in Nashville to discuss and to understand the Gorham-Stout aspect of the conversation. It took weeks to gather all of the information and be sure this was a legitimate option for her. It was a very difficult waiting period where we learned once again new ways to trust God and wait for doors to open. That is exactly what has happened. It has certainly not always been easy and we haven't always done it well. We have gotten angry, tired, frustrated, and sad. We have prayed together for wisdom, for peace, for patience, for understanding. We have prayed specifically for patience with our children when we feel like it's too much and we are going to snap. We have prayed for energy to get through the day after night after night of too little sleep with a fussy, hurting, frustrated little girl. It has really been amazing to see how God has provided for all of these things. Sometimes that provision has come through someone offering to take the kids off our hands for a couple of hours or come play with Alex so I could get out in the garden or just take a break. Sometimes it has come in the form of a meal provided on a night we were tired or feeling down. Sometimes it has been little gifts in the mail to help keep Alex occupied when she can't be out doing what the other kids are doing and sometimes little gifts to remind the other kids how special they are, like a gift card to take a child to ice cream for a special time. Time and time again God has provided through those whom He has placed in our lives.

I know that was a bit of a rabbit trail. --- Back to the decision we have made and what this means for Alex. Months ago we had felt a lot of peace about treating this diseased bone as if it were osteosarcoma in her femur. If this were the case the tumor would be removed. This is not typically the treatment for GSD, in part because it is not often found only in a limb, but we have met several people who have had bone removal as the treatment of choice and they have been in remission ever since. When we found out that rotationplasty could be an option for her we were ecstatic. We realized what this would give her in comparison to the hip disarticulation that was being seriously considered previously. With a hip disarticulation, it requires 150-200% more energy to ambulate with a prosthesis. With rotationplasty, it is essentially a below-knee prosthesis which requires approximately 50% more energy. This is such a huge difference and gave us great hope. Alex has been very involved in the conversation and decision making. I never would have imagined my five year old would be able to help make a decision like this. We have been amazed by her maturity, the questions she has asked, the insights she has shown, and the peace she has had throughout. She told us a while ago that this was what she wanted. We, of course, had to make sure we had looked under every rock and had gathered all of the information, but it is sweet to know that we made this decision together and we all have peace about it. I am sure there will be moments or days where we will feel doubt or fear, but we are confident that this is the direction God has sent us. It has been made clear through the doors that have been opened and those that have been shut along the way. There have been many times when frustration has been great, answers have seemed to come too slowly and setbacks have seemed many, but looking back we realize that had those things not happened just that way we may not have gotten to where we are.

Here is a diagram that shows rotationplasty. The difference is that for Alex’s rotationplasty the entire femur will be removed and her knee down will be rotated 180 degrees and reattached at her hip. Her backwards knee and ankle will then function as her new hip and knee. A prosthesis will go on her backward foot.

https://youtu.be/aYcAAyU2eE8

I am attaching the video we made of her telling the family about the news the day we heard from the doctor about the scheduled surgery date. She was so excited to have it scheduled and that is what she refers to when she talks about her backward foot. We are on the schedule for August 19th, 2020. She will turn six years old on August 9th. Since the moment we first began to talk about amputation options she has been telling people she was going to get a new robot leg. When asked when it would happen she would always say, "um, around my birthday". She has been saying this for months and we had no way of knowing when this would happen. Now having it scheduled ten days after her birthday is such a God thing. This little girl is something else for sure.

We found out yesterday, at her two week post-surgery check-up, that when they set the knee it did not hold and has slipped out of the socket again. This was disheartening, but as they were able to change out her cast with one that is more comfortable for her, we are all thankful. The last one had caused her to have several blisters and sores on her foot and ankle. The downside is she cannot get this one wet, so we are looking for new and exciting ways to keep her entertained these next three weeks. Please pray that she can be comfortable and content.

We will be speaking with our doctor in Baltimore tonight to discuss what will need to be done about her knee before rotationplasty.

I will end this for now and will update again as we have more details. Thank you so much for the prayers and love that carry us through each day. Thank you for your gifts of words, hands, feet,.. As many of you are asking how to help, Brent and I plan to create a list of things that would be helpful which I will post.

Thank you.