Wednesday, October 13, 2010

A medical update

Those who are familiar with adoption, particularly those who have adopted children with special needs, know that the first few weeks and months home are generally filled with doctor's appointments, evaluations, tests and procedures. We have not been an exception to the rule. Our days have been filled with doctors appointments, blood work, xrays, stool samples, immunizations, brace fittings, exploratory surgeries, medications and list goes on. Fortunately all of those appointments, tests, and procedures have paid off.

For those who are unfamiliar with Alayna and Lily's special needs allow me to give a brief synopsis of what we knew prior to bringing them home. Alayna was born with multiple orthopedic special needs effecting both legs/feet as well as her spine. In Bulgaria she had been diagnosed with "Polymalformation Syndrome" and kyphoscoliosis. Lily was born with cleft lip/palate. Although both had been repaired, we discovered that she still has a hole towards the front of her palate caused by what our pediatrician believes was incomplete/improper healing. She had also been diagnosed with "Malabsorption Syndrome," (at 7.5 years old she came home weighing 28 lbs. and wearing a size 3T), though the orphanage doctors assured us that she had "grown out of it" (don't worry, we didn't believe them!).

Upon arriving home the girls were seen by our pediatrician who ordered the first round of tests and referred us to various specialists. Highest on our priority list was getting to the bottom of Lily's "malabsorption syndrome," which she had, quite obviously, not "outgrown." In addition to the height and weight discrepancies, Lily had constant loose stool/diarrhea, her abdomen was severely distended and she ate dirt like it was a dessert (this is a condition known as Pica and it is usually a sign of anemia which the orphanage doctors had told us she had struggled with in the past). I requested a referral to a Gastroenterologist (suspecting that she might be suffering from Celiac Disease) and, while we waited for the appointment we ran blood work to test for anemia.

Lily's belly was so distended she couldn't walk without waddling.

Not surprisingly, the labs came back positive. A few days later Lily had her first appointment with the GI who confirmed her diagnosis of severe iron-deficiency anemia and immediately started her on an iron supplement (to give you an idea of how severe her anemia had become, normal hemoglobin levels in children are between 11.5 and 16. Lily's hemoglobin was at 7.4 and steadily falling. Cardiac arrest generally occurs when hemoglobin levels reach 5 or below. Scary, no?). The GI (who also suspected Celiac or Inflammatory Bowel Disease) then ordered the intial tests to check for Celiac or IBD (this included more blood work and a barium swallow with small bowel follow through). Both tests came back elevated and the GI suspected that Lily might have a dual diagnosis of Celiac and Crohn's disease. The only way to know for sure was to perform a colonoscopy and endoscopy (which we now affectionately refer to as the "dual"oscopy) and biopsy both the small and large intestines. We quickly scheduled the procedures knowing that if she was suffering from Celiac disease, it was likely that her hemoglobin levels would continue to fall despite the iron supplements (since her body would be unable to absorb the iron). Again, not surprisingly, but much to our relief, the "dual"oscopies revealed that she did, in fact, have Celiac but, thankfully, not Crohns Disease (or any other IBD).

We immediately started her on a gluten-free diet. We also scheduled an appointment with the hematologist (to monitor and treat her iron-deficiency anemia) and ran more tests to pinpoint any other deficiencies that may have been caused by 7.5 years of gluten consumption. The tests for vitamin deficiencies came back showing a severe vitamin D deficiency (which confirmed our suspicions of early osteoporosis, though we are still waiting for several more tests to determine bone density and how advanced the osteoporosis is). Now, in addition to the iron supplements and gluten-free diet, she is also taking a heavy duty vitamin D supplement.

I am VERY happy to report that, after just a few weeks of following a strict gluten-free diet, my sweet little Lily has finally emerged! At a follow-up with the hematologist last week we learned that Lily's hemoglobin levels are finally at the low end of normal (11) and rising! She is no longer eating dirt. Her belly is no longer distended. She has gained 8 lbs.!! And my tired, withdrawn, sad little girl has transformed into an energetic, giggly, happy and finally healthy little girl! Her transformation is truly, truly AMAZING!! How can I even begin to thank my Heavenly Father for guiding us down the path that has led our sweet little Lily to physical redemption!?

We have yet to meet with the cleft lip/palate team at Shriner's Hospital for Children in Cincinnati, but now that Miss Lily is on the pathway to health we will be arranging those evaluations shortly. Fortunately, her palate does not seem to interfere with most activities of daily living (eating, drinking (she can't do a straw, but can drink from an open cup with no problems), etc.), but because her speech is so greatly effected, it is not something that we can put off for long (though after the barrage of GI tests and treatments she has been through for the past two months, I think she deserves a break).

In the midst of working to obtain a diagnosis for Lily, the kids and I loaded up the car and made our first trip to Philadelphia so that Alayna could be evaluated by "our" wonderful team of doctors at Shriner's Hospital for Children (the same doctors who treat Joshua and Evan). At the appointment the doctors confirmed that she is missing her right fibula completely (Type 2 fibular hemimelia). Her right foot (also missing bones) is severely clubbed. Her right leg is in flexion contracture (stuck in the bent position at 110 degrees). Her left leg is in extension (locked in the straight position; she can hyper extend, but can only bend to about 50 degrees.)She is also missing bones in her left foot and, although she was blessed to have had multiple surgeries in Bulgaria to repair the clubbing of the left foot, her ankle bones are in a "clothespin" formation and will eventually need to be repaired or she could suffer long-term damage from weight bearing. Her kyphoscoliosis was also confirmed. Her spine has a 72 degree curve (WOW!) but, thankfully the kyphosis (outward curve) isn't fixed and her spine is flexible enough that bracing may prevent her curve from progressing for the time being (though, at that significant of a curve, bracing will NOT correct the problem).

Ever wondered what 7 children packed into a tiny exam room looks like? This is it :-)

Our plan of action for Alayna is as follows: Due to the involvement of her right leg, our doctor feels that it will be in Alayna's best interest to amputate her right leg at the knee and fit her with a prosthetic. Initially I was resistant to the idea (prior to going to Philadelphia. . .at this point I know enough about this area of orthopedics that I knew as soon as I saw Alayna's leg what the options would be and, by the time we arrived in Philly, had already arrived at the same conclusion), but soon after arriving home from Bulgaria, I realized that this was going to be the best course of action for her. The other option is using an external fixator to straighten AND lengthen the right leg (because she is missing her fibula, her right leg, even once straightened, would be significantly shorter than her left). Once her leg is straightened and lengthened, her foot (which is stunted at about the size of a two year old and missing several supporting bones) would then need to be repaired. The process to complete those procedures would be lengthy (think YEARS) and external fixation carries with it a great risk of infection and subsequent complications and there is no guarantee, after all is said and done, that she would even be able to bear weight on that leg to be able to walk. Honestly, I cannot imagine putting her through all of that only to have her end up being unable to use her leg. Amputation and the use of a prosthetic would allow her to walk (and SOON!) and I can assure you, there is nothing this spirited girl wants more than to be able to be up on her feet and running with her brothers and sisters. This is the first surgery that she will undergo and will likely take place early next year.

Our next course of action for Alayna will be to manage her scoliosis. Because her curve is significant and can and will eventually effect her lungs, she will have a device known as VEPTR (titanium rib) implanted to stabilize her chest cavity and hopefully, slow the progression of her curve until she is old enough for a spinal fusion (if it is needed). This procedure involves telescoping rods that grow with the child (unlike a fusion) so that scoliosis can be treated and more effectively managed from a much earlier age. Fortunately, as mentioned earlier, her spine is fairly flexible so, while we are waiting for this procedure, she will be braced in order to slow progression of the curve.

Once both of these procedures are complete and we have been able to assess how her left foot (whose ankle bones are in "clothespin" formation) handles bearing the weight of her body, she will likely have an external fixator placed in order to bring the bones into alignment to prevent permanent damage from occurring.

Whew! And now you see why it has been so long since my blog and I have sat down for a nice chat (and I haven't even gotten to the attachment/bonding, homeschooling, current adoption and secret-harboring posts)! Although it has been a VERY busy 2.5 months, what an incredible blessing it has been to watch my beautiful little girls grow and thrive!

We were blessed with an extra special treat on this trip to Philadelphia! We were finally able to meet our friend and fellow Reece's Rainbow adoptive mom, Tammy Enberg and her AMAZING Ukrainian AMCer's, Ben and Sophie! Here is Evan, Ben and Sophie at the Ronald McDonald House after a LONG day at clinic. And just in case you're wondering. . .Tammy and I have already arranged Evan and Sophie's marriage :-)

Ever tried to get 7 children to look at the camera at the same time?
Attempt #27

Attempt #62

Okay, fine! 6 children looking at the camera will just have to do!


meg said...

wow, just reading about Lily's transformation brought tears to my eyes! After seeing her at the garage sale, i am so excited for her and your family to see her so happy and bubbly. You are so amazing and you all are all in my thoughts and prayers!

The Hamilton's said...

Glad to hear and see that everyone is doing well! The kids are beautiful? Not to be pushy, but is there a reason why you would take Lily to Shriners Hospital in Cincinnati instead of Cincinnati Children's for her cleft palate? Just wondering? I work with a guy who is a guy who is a part of the CFAT team, who had a cleft palate as a kid. It's a great team of doctors. Give me a call if you want to know more!

The Hamilton's said...

I guess I should proof read my posts before I hit publish!! Sorry about that!! I guess I have too much going on!!

The Shultzs said...

Glad to hear little Lily is doing better. :-) Praying for Alaynas upcoming surgeries and tests. :-) God bless you and your sweet family. :-)

MoonDog said...

missed you all terribly at shriners this week. going back the 28. looks like we will miss you again. darn. Sophie missed Evan and looked for him everywhere. blue casts for both kids this time. I know you are busy but it is good to hear from you all. try and give us an update more often!

Tammy said...

I somehow missed this one. Thanks for all the updates;)

Jill said...

Hooray for all the medical information! I learned about several of the things you mentioned in my CNA training. Poor Alayna having a contracture and being so young! I am eager to hear more updates!!! Are you meeting with Melodie still for attachment?

Anonymous said...

Well, if Evan and Sophie get married they will be a very beautiful couple! They are both gorgeous! And what about that cute Ben for one of your girls ;) Haha, glad you are updating.

Anonymous said...

im so happy that lily's problem is not psychosocial dwarfism. that has a whole other set of concerns...phew..and chrohns..ugh..
i have a good friend that adopted a child with similiar leg concerns as alayna. they did the amputation and prosthetic and the results have been amazing!! she goes to shriners too. please let me know if you would like to get in contact. shriners may have already given you her name..aimee french...

my email is seoultrainonanairplane @

Qadoshyah said...

Wow, Lily's transformation sounds amazing! I'm very familiar with Celiac Disease & gluten sensitivities since my brother with DS has it and about half of my family has gluten issues. So, needless to say we're an all GF family. Amazing though to see (well mainly read ;)) the transformation that a simple diet change can do. And amazing how much a food allergy can affect people.