It was an exhausting 2 days, but we tried to make it fun for Will. We turned it in to a mini-vacation for him. After dropping Maggie off at Paw Pals and Evie off at Gram's house, we took off to Louisville to stay Monday night. The hotel had all of the requirements to make Will happy - an elevator, a pool, and an escalator. Happy boy! Will and JT swam and played for a while before we went to bed. Tuesday morning we had breakfast and took our time getting ready. We headed off to Cincinnati. We made it to the hospital just in time to grab lunch and head to our appointment.
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| Pool time with Daddy |
We met with several specialists all at once. They had the entire afternoon devoted to Will. It was so great! We were there for almost 3 hours and never once felt rushed. Will was a rockstar! I still can't believe how good he did. He let them examine him multiple times and he played with a nurse practitioner student while we were talking with the team. (I doubt that was supposed to be her role for the day, but Will immediately became friends with her. She has a son Will's age, so they had some serious discussions about Paw Patrol and other important things in Will's daily life!)
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| Will didn't want to take a picture, but he did show off his brave friends Whiskers and Baby Woof. Yes Big Woof-Woof made the trip too, but he had to stay in the car. |
Dr. Adams - (medical director of this team) I believe she is a hematologist/oncologist. She had a special interest in this small population of kids with vascular malformations and started this team. The research she has done and knowledge about these kids is just unbelievable. She is truly a blessing!
Dr. Dasgupta - She is a pediatric general surgeon. We really loved her! She just had a way of explaining things that made us feel so at ease.
Dr. Patel - He is the interventional radiologist. Super knowledgable! He trained Dr. Baron (Vanderbilt) and I think we'll have a great line of communication between these two.
Dr. McCarthy - He is the orthopedic surgeon. We only met with him for a few minutes. His role really won't be needed until Will is about 10-12 years old. At that point we'll be deciding if Will's leg lengths differ enough to do something about it.
Nurse - I don't know her name, but she explained stuff to us at the end of the appointment that pretty much pieced it all together. She was great! (I have got to figure out her name!)
The Diagnosis: CLOVES syndrome (www.clovessyndrome.org)
Congenital - formed in utero
Lipomatous - fatty mass in his lower back/bottom
Overgrowth - I think this goes along with the fatty mass, but may also be his bigger right side in general.
Vascular Malformations - vascular and lymphatic
Epidermal - red/brown spot on his back
Skeletal/Scoliosis - Will doesn't have anything in this part that we know of.
The Plan:
Start Rapamycin - This is a medication used in patients that have had kidney transplants. It has been found to improve the symptoms and maybe even the severity of vascular malformations by slowing the progression of tumor cells. (Will doesn't have a tumor, but the malformations act like a tumor.) This is a liquid medication that Will is going to take twice daily. We won't see results right away, but I think it is a great start to at least feel like we are doing something. It does have several side effects, but I am most concerned about the immunosuppression (Will's immune system won't be as great as it is now) and increases in cholesterol. He will take Bactrim (antibiotic) on Saturdays and Sundays while on this medication as prophylaxis. Lab work will monitor cholesterol. Really though, he is going to be on a much lower dose of this medicine than is given to transplant patients, so hopefully the side effects will be minimal anyway. Dr. Snyder at Vanderbilt is taking care of this step, and we plan on beginning 3/25.
Compression Stocking - Will has already been measured for this and we're waiting for it to come in. Because Will is at a higher risk for a blood clot, he will wear this during the day. Think of it as a thigh-high sock. (We'll be calling it a "superhero sock" or "makes you run faster sock" or whatever we can to make it fun for him.) They are also making him some compression boxer briefs hoping that it will make him more comfortable sitting. I'm really wishing we had gotten this sock this during the winter because it is going to take some getting used to, especially when it gets hot outside.
Tethered Spinal Cord - We've known since Will's first MRI when he was about 18 months old that he has a tethered spinal cord. The bottom of your spinal cord should hang freely and move within the spinal canal. Will's is attached ("tethered") to the fatty mass/malformation. Luckily in his case, he has never had any neurologic symptoms because of this. The Vanderbilt neurosurgeon would like to untether the cord, but he isn't familiar with how to do it while avoiding the malformation. Cincinnati said that they have seen this and can do the surgery if needed. The neurosurgeon (which we did not see) is reviewing Will's past MRIs to decide if we need to move forward with this procedure. If so, we will do this before anything else. We will go back to Cincinnati to have this done.
Scope - Will needs to have a urethral and rectal scope done at some point to see what type of lesions are in those areas causing him to bleed. The urethral bleeding is a constant issue for him. This will be done at Vanderbilt. We don't have a GI doctor at either place yet, so we are working on that with Vanderbilt. For now he is taking Miralax daily to prevent constipation. I mix it in his morning milk so he has no idea - I wish all medicines were this easy!
Venogram - This is an x-ray that involves injecting contrast material (dye) into a vein to show how blood flows through the vein and what type of condition the vein is in. We need to know that Will's right leg has a deep vein system (which we are sure that is does) and that the big vein isn't vital for his leg. I believe this will be done at Vanderbilt by Dr. Baron. If everything looks as we hope, we will move on to the ablation procedure.
Ablation of Vein in Right Leg - If we get a good report that Will's deep vein system is good and the big vein is not needed, Dr. Patel in Cincinnati will do an ablation procedure. It was explained to us that he goes in with a laser and basically burns (cauterizes) his way down the entire vein to close it and make it no longer viable. This is very similar to a procedure for a varicose vein, except this one is much larger and Will is going to obviously need anesthesia. This seemed to be a new thing that is being done for vascular malformations. Dr. Patel explained that just doing sclerotherapy would never have really helped that leg vein since it is so large.
Other follow-ups -
Will is going to have a kidney ultrasound every 3 months until he is 8 years old to check for WILMS tumor. This is a cancer of the kidney that is sometimes found because of the "overgrowth syndrome". Very unlikely, but at least we are checking.
Orthopedics will begin following, but no surgery would be done until age 10-12. We will only have to do something if the right leg ends up being longer than the left leg.
So, that's the plan. JT and I are comfortable, relieved, and ready to get this going. Sweet Will left the appointment in Cincinnati saying "but my foot still hurts". I had been preparing him for the trip telling him that we were going to meet the doctors that could help him, so he was expecting some immediate remedy. Oh how we wish that were possible! But, we are just so happy to be moving forward.
As always, thanks for the prayers, love, and support!
If you want more information on anything in the plan, you can google most of it. Although if you are one of my patients, you know that I NEVER recommend looking up health info on the internet to patients! Hahaha!
