The Diagnosis

Lily and her friend

I'm not sure how to begin this post or how to even write this. So I guess I'll just start with the facts. About a week ago, the day before Lily's first birthday, we received a call from her geneticist. The results from her genetic testing were in and there was a finding. Lily has a deletion on one of her X chromosomes (at site Xp22.13 to be exact). This was indicative of a documented metabolic disorder called Pyruvate Dehydrogenase Complex Deficiency. The geneticist didn't seem overly concerned. He said she'd need some supplements and frequent feedings to keep lactic acid from building up in her muscles. We hung up and, of course, I began looking for medical articles online.

Here's one. I won't go into all the medicalese. The main point is, it is degenerative, it has no cure, and children who have it do not make it past their teens. There are some therapies that can help slow the progression of the disease but it does not stop it.

We have spent the last week trying to come to terms with this and I can't. Not yet, probably not ever. I'm not sure what else to say at this point, except it breaks my heart. I pray that we can buy her enough time to find a cure, but I know that is unlikely.

There is part of me that wonders why my child? It's not fair. But when I think of it, really think of it, I know that I don't even need to really ask the question. Because mothers, parents, everywhere lose children everyday and it isn't fair for any of them. We are no more special than anyone else.

Lily is beautiful and I hope that we can make every moment she has as full of love as possible.

Neurologist

We went to the neurologist on last Friday for Lily's follow up. Everything went pretty well. He accessed her development and felt that she had made quite a bit of progress. In fact, she's made enough progress to mean that she may not qualify for the state funded therapy that we had just finally gotten into after three months of weekly calls! In many ways great! And an many ways sooo frustrating. After testing her reflexes, measuring her head, and talking about her development we learned that she's about 3 cm below the lowest percentile for head size but it looks as if she is following that growth curve, which is a good sign. She also developmentally is at about the age of 4-5 months although her tongue clicking is advanced even for an 11 month old. Again, it was hard news to hear and we wonder does that mean for every year of development she will advance 4-5 months in developmental age or will it begin to lessen as she gets older? How independent will she ever really be? The hardest part is that no one knows, not the experts, not us. It's just one day at a time. One bit of information we did get is that if she is able to sit independently by age 2 then she has a much better chance of being able to walk. So I guess that's one goal we can works towards.

We also got into a philosophical discussion about laughter (this is one of the reasons I love our neurologist; he doesn't dumb things down for us and has faith that we can keep up or ask the right questions). Lily doesn't laugh. She smiles ear to ear, squeals or clicks her tongue when she likes something. But no laughter. I wondered if it were a physical issue due to lack of muscle control but the neurologist didn't think so. He gave us a synopsis of a lecture he'd recently been to about laughter. First of all humans are the only primates that laugh. Second, it seems to be a way to diffuse a potentially emotionally intense moment. As he put "I see an anomaly, and I'm ok with it". Lily also doesn't have much of a startle reflex and Dan and I think she may not laugh because she isn't scared by anything. She isn't scared and she doesn't seem to realize that there is a need to diffuse a tense situation. Right now, that isn't such a big deal but it may prove to be an issue later in life. Most of all, we just hope to hear her giggle some day.

Ok, that's all for now. I'll put up a longer post with pics and (hopefully) some video later this week because Thursday is Lily's first birthday! I can't believe it!

Genetics

Lily in her cast

Brace free time

Tummy time in her brace

Cute baby

Sorry it has been forever since I've posted. While Lily was in her cast she needed near constant contact to keep her from getting upset. So there was very little time for me to make dinner, shower, etc. let alone post on the blog. But here I am again!

Lily is now in a hip brace. She's been in it almost two weeks now and it is going well. We're not sure how long she'll be in it. She gets two hours out of it a day. We visit the surgeon next week and hopefully we'll get the ok to have her out for four hours a day. And it will go from there, checking in with the surgeon every two-three weeks and upping the amount of time she gets to play around outside of the brace. She's still very weak and lost some weight while in the cast. But day by day she's trying to roll over and move her legs. She's really doing well.

Today we met with the geneticists and had some blood drawn for basic genetic tests. We won't know anything for at least 3 weeks but most likely much longer. This is just the first basic test which may not tell us anything at all. Part of the appointment was an exam and there were two findings we hadn't heard before which were:

abnormal palmar crease-basically this means that the creases on her palms are not what is normally seen. After getting home and looking at her palms it looks as though her right hand has what is referred to as a single palmar crease (this is opposed to the three creases that most people have). Are you looking at your hand yet? Anyway, this is an indicator in several genetic syndromes including Downs syndrome.

And the second finding is that her head is in the 50th percentile...for a 3 month old. That was a hard one to hear. Our 11 month old has the average head size of a 3 month old. It really put things into perspective for us. However, she has had 1 cm of head growth since we last officially measured which is fabulous!

On a brighter note, she screamed "Mama" at me last night and is trying to roll over. She's really holding her head up well when she has tummy time and she's more and more interested in everything around her. She thinks it's hilarious when our dog Rosie barks and she's starting to enjoy peek-a-boo. In other words, her development is at different age levels depending on what area you look at. She's just going to do it all her own way at her own speed!

P.S. I tried to upload some videos of her doing all these new wonderful things but I just can't seem to get them on here. Maybe next time!

9 Months

Sisters

Sweet Potato!

Lily is 9 months old! It has flown by. She has now existed in this world on her own as long as she existed inside me. It has been a wonderful, tough journey with her and transition for her family.

Lily is now rolling over (though not consistently), grabbing at toys, cooing and screeching and imitating sounds, trying to kick her feet more, and generally more interested than ever before. She even scooted backwards the other day!

We have been preparing for tomorrow. We'll get to the hospital at 8:30am, for the prep, and her surgery will begin at 10am. The surgery shouldn't take to long. When she's done she'll be in a spica cast, from right below her nipples to her toes, and the real care begins at that point.

In happier news, I've contacted a couple local support groups. One has playdates twice a month which I am super excited to attend. I just haven't been able to handle playgroups for "normal" kids. It requires too much explaining, too much awkwardness from other people about how they should react, too much awkwardness from me about how much I should say. Innocuous questions become minefields, i.e. "Is she crawling yet?". A simple "no" tends not to suffice at this point. Anyway, it would just be nice to meet other parents who are going through/have been through similar situations. They also have a library of books about special needs children, which is just what I've been looking for.

The other support group I found has matched me up with a mentor family. I'm really excited to meet them! They have a 9 year old boy with agenesis of the corpus callosum and the mother has a masters in early childhood education. We haven't had a chance to chat yet but she says she has lots of support info for me. We'll be getting in touch in the next few weeks.

Arrgh!

Lily's surgery date has been moved up to MONDAY May 2nd. Freaking out. So much to do.

Quick Update

I am super tired from our recent trip to Athens, OH. It was lots of fun but I'm beat.

The procedure almost two weeks ago did not work, unfortunately. The surgeon was unable to get Lily's hips back in socket, most likely due to cartilage in the hip joint blocking the way. She is scheduled to go in May 4th for a surgery that involves cleaning out the hip joints and tightening the ligaments and tendons around them so that they will stay in place this time. After the surgery she will be in a cast that runs from right below her nipples to her toes. That will last from 2-4 months. We have a pre-op meeting this coming Friday April 29th. I will try to post more details after that.

More Procedures

Elise as the White Rabbit

Trying to get a picture of Lily's smile when I squeak her Sofie teether. Couldn't quite get it, but cute nonetheless.

Lily the pirate!

First of all, I just want to say thank you to everyone who has commented here, emailed me, facebooked me, thought and prayed for us. It has been so helpful to know that others are thinking of us and offering support throughout everything that is happening.

A lot has happened (again) since the last post. The main thing is we met with representative from Early Start. It's a program that helps children from 0-3 years old who have developmental delays. The lady who does the intake procedure was wonderful and has a 17 year old son with cerebral palsy. It was great to talk to a parent who has been through something like this and come through the other side. She understood how stressful the wait for a diagnosis has been and then coming to terms with that diagnosis, not to mention staying functional for your other children. It was great to talk to her and she gave me a lot of good ideas on how to work with Lily while we wait to get in with a physical therapist. They are going to arrange physical therapy, occupational therapy, and visual therapy for Lily, as well as speech and language therapy as she gets older. The best part is that they will keep track of all of these things and make sure that everything is communicated to the school district as she transitions into preschool later on. Overall, I think that we are moving towards getting Lily the help she needs to move forward.

Lily also has another medical procedure coming up this Monday April 11th. She will be sedated again, which is always nerve wracking. They will then inject a contrast dye into her hips while she is under an x-ray machine and manipulate her hips. Hopefully they will be able to place her hips back into socket. If so, they will put them in place then put her in a spica cast. This is a cast that runs from waist to toes and she'll be in it for 6-8 weeks. If they cannot manually place her hips, we will be scheduling a surgery for a later date. This is a fairly minor, outpatient surgery but you know, hearing that your kid has to have any kind surgery is terrifying. We are really hoping things go well Monday. Oh and either way she will have to be in the cast, so ideally we won't be dealing with a cast in addition to surgery.

As for how we are doing, it is up and down. Lily is great and awakens every morning with a smile. She's mimicking noises now and tries to pull herself to sitting when she is on our laps. She's engaged in the world and loves interacting with people. Dan and I are both having a hard time knowing how to deal with all this. I'm exhausted from the neverending doctors appointments, not to mention now battling the hospital over incorrect medical bills. Dan has to deal with all this while working full time. And we are both worried about the effect it is having on Elise. We are looking for a child psychologist to help her work her way through this transition. She's had a lot of anxiety and has been waking up at night or having issues falling asleep. She's frightened of doctor appointments and asks me frequently if Lily will be ok or if she is going to die. It's heartbreaking, to be honest. On the other hand, when we aren't dealing with her issues, Lily is fun to be around and the four of us go out and have a great time.

One of the best things about the meeting with the Early Start people is that they directed me to resources for parents of special needs children. There are a couple support groups but most importantly there is a weekly playgroup and coffee session for parents. I'm excited to go. It has been difficult to find the energy to go to regular playgroups because I have to explain all these things going on with Lily and seeing other, regular, children her age is difficult. I just don't want to be the crazy lady who breaks down crying in the middle of the playgroup because someone else's 8 month old is babbling and crawling. Perhaps not the best way to make friends!

I will try to post more on Monday once we are done. Please keep us in your thoughts. We are really hoping that things go smoothly and she will not need the surgery.

Overwhelmed

I wanted to start with some pics of the girls.

Lily's new sunhat!

Waiting for the doctor (again).

This is going to be a long post. The last few weeks have been a whirlwind replete with visits to specialists, a certain girl turning 7 (!), and a minor flood that invaded our sheds, the playroom, and nearly got into one of our cars. Hence the title of this post. I'll break the new info out by specialist.

Neurologist

A few days after seeing the ortho we headed back to the neurologist to actually look at the MRI images. I'm just going to sum up here since there were a lot of technical details. Lily's diagnosis is secondary microcephaly, agenesis of the corpus callosum, enlarged ventricles, and cortical dysgenesis. What does all this add up to? Essentially, Lily has less brain mass than your average 8 month old.

This is not going to spontaneously resolve. No sudden brain growth spurts. Brain growth just doesn't work like that. She will be behind her peers consistently for the rest of her life. Right now we don't know how far behind that will be. Actually, we probably will never really know.

The take away is: don't try putting her in classes with children that are younger than her (i.e. sticking her with 4 month olds, which is about where she is developmentally). What she needs is individualized solo and group therapies to help her attain skills.

Neurosurgeon

We went back to the guy who originally missed the fact that Lily was missing an entire structure of her brain! This was, basically, to get it corrected in the medical file so that we don't run into any issues getting treatment at a later date.

He's a real piece of work. He never bothered to say sorry and his excuse was "Oh, I didn't realize no one had had the brain talk with you". Oh really? Had he bothered to even glance at her chart he might have realized he was the first "brain person" we had been to see. Ah well.

The one valuable piece of info: Lily's ventricles have not enlarged between January and March. Her condition, at this point, does not seem to be degenerative. Thank goodness!

Audiologist

After much poking and prodding, we managed to get a hearing test. She measured normally int he mid frequency ranges but didn't seem to be able to hear higher pitched noises. But it may be because she was recovering from a cold and had fluid on her ears. So we go back in one month to check her again. *sigh*

Opthalmologist

This was the appointment I've been most worried about since eye conditions seem to be a common by-product of her condition. After much shaking of various toys, the opthalmologist concluded that Lily tracks objects well vertically, but not horizontally. The caveat is, she does not track normally for an eight month old, but since all of her development is behind this may be on par with the rest of her development. We will have to wait and see.

After that, she had her eyes dialated. Her optic nerves are a normal size (yay!). But they are partially pale (they should be a pink color). Some kids with pale optic nerves have normal vision; others have partial blindness, which is not correctable. Again, we must wait and see.

In addition, her left eye turns in slightly so we'll be doing eye patch therapy over the next month to help strengthen her eye muscles. That's right. Lily will be a pirate (with a ladybug eyepatch, no less) for approximately 20-30 minute a day.

Orthopedic surgeon

We got a second opinion and went to a highly recommended ortho. He wants to do a fluoroscopy procedure in the next couple weeks and see if we can get Lily's hips back in socket and in a cast. If that does not work, we are almost assuredly looking at surgery to put them back in the sockets. I'll post more as we get closer to the date.

Alright, if you've made it this far, thank you for sticking with me. If not, I understand. It's a lot. I haven't had a spare moment to post in the last two weeks and now you see why. I will try to do a non-medical post later this week with some thoughts about Lily and Elise, pictures, and I'm going to put in a sidebar with links to sites that have been helpful through all of this.

If I seem sarcastic or short on description/reactions, it is because I am. It is a lot of information to take in a short period of time. I'm still processing and reading and trying to feel out how to react to all of this. We are happy that it seems that she will be with us long-term. But when you have a child there certain things you take for granted (them laughing, talking with them, running, playing) that are now very much up in the air for Lily. It is a mix of emotions and grieving is definitely a part of that. I think I will post more about it later, when I am feeling more eloquent.

For now I am running on this quote from a podcast I listened to recently. The man telling the story had just found out his daughter, who had cancer, had reached the end of treatment and there was nothing else that could be done. At the same time, he was earning his living as a comic and had his first big break. He was falling apart until he heard a voice in his head tell him: "Man up! Life is not a sitcom. Things do not wrap up neatly at the end. This is the real s***." It isn't pretty or particularly well spoken but it reminds me that there are others going through much worse and we will get through this too.

Orthopedic Appointment

This is Lily waking up after the anesthesia for the MRI. I just liked how sweet she looked in this video and how she's talking to us.

Here's Elise singing her the Itsy Bitsy Spider.

I just wanted to start this post out with some positive looks at Lily. So we went to the orthopedic surgeon today. Apparently, both of Lily's hips are dislocated, the left one slightly worse. Normally what would happen is that they would put the hip back in place and put a cast on for 6 weeks, then do the same to the other side and they would be fine. But since Lily's muscle tone is a bit overdeveloped in her legs, they were concerned that her hips would just dislocate again after removing the casts.

So we are going to start physical therapy to try and improve her rolling, grasping, and sitting abilities and then we will reevaluate in 3 months. At that time, they'll sedate Lily, inject dye into her hips and manipulate them while taking x-rays. This will show if there are any malformations of the cartilage, which could require surgery. If she hasn't moved forward on any milestones in three months, we will skip the casting and wait until she is older (around 2 years) to do a surgery which would put her hips back in place. Basically, they don't want her to be in casts for a total of 3 months, just to have her hips re-dislocate, and end up doing the surgery anyway. I appreciate that they would like to cut back on the number of procedures performed on her.

The ortho was pretty sure that Lily's developmental delays had more to do with her neurological problems rather than the physical issues. What does this mean? Possibly, that Lily may never be able to walk. But we are going to stay hopeful and keep working with her. No doctor has a crystal ball and a lot of kids with her condition have proven the specialists wrong. In the meantime, we'll be seeking a second opinion.

Up next, we have our follow up appointment with the neurologist on Thursday. Hoping that will be better news. I'll post when I can.

Ortho

Just wanted to quickly post that we will be seeing an orthopedic surgeon today to look at Lily's hip. The pediatrician thinks it is mild hip dysplasia and can be fixed by putting her in a cast, rather than surgery. We are hoping the ortho thinks the same thing. Will post with an update as soon as we get back home (and hopefully some pics and videos of Lily too, just to liven it up a little!).

Preliminary MRI Results

So I talked to the neurologist tonight and there were some findings on the MRI. Lily has agenesis of the corpus callosum. What does this mean? Basically the structure that links the two hemispheres of the brain is completely missing, never developed during pregnancy. As far as a prognosis for Lily, it is still up in the air. From what I've read, it depends on the severity of other brain abnormalities. Some people function mostly normally, some are fairly impaired.

For now, the neurologist is getting in touch with the neurosurgeon that looked at her CT scan last month and they will be comparing the scans to make sure that there haven't been any changes. On the original CT scan they found moderate ventriculomegaly (there are ventricle spaces in the brain; hers were slightly enlarged). It was deemed medically insignificant at the time but the neurologist wants to make sure that they are not getting bigger.

So there is still a lot up in the air but we are happy to know something and to rule out a lot of other things (cancer, MS, MD, etc.). The main thing though is that it goes back to just taking it one day at a time. We won't really know the extent of the problem until issues arise, which we'll address one at a time.

Hopefully we will hear more on the ventriculomegaly next week. At the moment there is some sense of relief, though, as we begin to understand what is causing the microcephaly.

Still Waiting

Just wanted to let everyone know that we are still waiting to hear back from the neurologist. They literally took hundreds of images of Lily so we may not hear anything until next week. But I'll update as soon as we know anything.

We're Home!

Lily made it through the MRI just fine! We're home and resting. We should hear from the neurologist in the next couple days.

MRI

I just wanted to let everyone know that Lily will be having her MRI tomorrow, Tuesday March 1st, at 7:30am PDT. The entire procedure and recovery time should take about 4-5 hours. She'll be under anesthesia for most of it. I will try to post as soon as we are out of recovery and let everyone know that she's ok. Thank you in advance for your thoughts and prayers.

Where to Begin...

This is Lily. She will be 7 months old this Monday. She and her older sister Elise are the lights of our lives. This Wednesday, Lily was diagnosed with microcephaly.

Back in December of last year, the family doctor we were seeing noticed that Lily's head size was falling down the charts. She was born at the 25th percentile in July and by December was down to the 3rd percentile. He also noticed that her soft spot was very small. He suggested that it might be a condition called craniosynostosis and referred us to a team of specialists at Lucile Packard Children's Hospital.

After a CT scan and seeing a craniofacial surgeon and neurosurgeon, we were told that the suture running from Lily's soft spot to the bridge of her nose was prematurely fused. But it was mild enough that she was not in need of surgery at that time. Yay! We thought we'd dodged a bullet and went home happy.

Two weeks ago we went in for Lily's six month check up and her head was exactly the same size as it had been in December. It now is no longer on any growth charts but is two standard deviations below the chart (i.e. her head is two centimeters smaller than the lowest percentile on the growth chart). The pediatrician was concerned and ordered numerous tests. All the bloodwork came back clear: no food allergies, no viruses, no blood disorders. Her physical exam showed that she was behind on her motor skills (no rolling over, grasping objects, or sitting up) and that her arms were a bit weak and her legs overly rigid. We were referred to a neurologist and an orthopedic surgeon to check out an abnormality in her left hip which was noticed in an xray.

This Wednesday we were able to get in to see the neurologist (thanks, apparently, to the pediatrician calling him personally and begging to get us in ASAP). He immediately diagnosed her with microcephaly. After a thorough exam and taking a medical history, he felt that it is not degenerative. Lily is scheduled to have a full body MRI on March 1st, which will, hopefully, confirm his gut reaction. She will have to be fully sedated for 4-5 hours for this procedure.

We are trying to stay hopeful. She is a beautiful, loving little girl. She knows who her family members are and squeals when we play with her. She's doing her best to roll over. She loves music, being sung to, and dancing around. Right now we are just hoping that this diagnosis will not be that this is fatal.

Mostly I started this blog to keep friends and family informed. I don't feel that I can explain all of this repeatedly because it is just too scary and emotionally taxing right now. I will try to update this space as soon as we have new information. We appreciate all the love and thoughts and phone calls, emails, etc. Thank you.