Looong Week

It's been forever since I posted.  It has been a long 10 months, full of hospitalizations, scares, and surgery. I won't go into the blow by blow because it is long, depressing and, frankly, too emotionally raw for me.  Part of the reason I haven't posted here until now, is that I just wasn't ready to talk.  But here are the girls these days.

I decided to post today because it has been a long week and I think I'm ready to put some of it down here.  I hope I'll post again, sooner rather than later.  I think, perhaps, I need to record some of these experiences as the parent of a special needs child.  Maybe someone else will find them useful.  Maybe I will remember more of the little things some day.

So here is my week:

Monday:  Start out morning by attending a meeting at one of the agencies that covers Lily's care.  Sit on a therapy bench with a pediatrician, an orthopedic surgeon, a caseworker, Lily's occupational therapist, and the director of the clinic in a semicircle around us, firing questions.  All polite reasonable questions, but daunting nonetheless.  I try to answer said questions in a coherent manner while Lily pulls her hair, throws herself in front of my face repeatedly, pulls my hair, scratches my face, and attempts to make herself vomit.  Walk out with approval for continued services and suggestion to start focusing more on oral-motor skills again.

Tuesday- See orthopedic surgeon.  Am told Lily's left hip is still not forming properly.  This means osteotomies (aka bone grafts) on the horizon.  Start to question whether this is a worthwhile risk considering her likely life span is short.  Must choose to risk my daughter's life by sedating her and putting her through a massively invasive surgery along with the requisite recovery time or risk not treating thus causing early onset arthritis that, if she lives long enough, will mean a full hip replacement later on.  Doctor sees enough improvement in the right hip that nothing more should be necessary there, at least.  Says we'll check back in 6 months.  I postpone the worry over the quality of life question until then.

Wednesday- Spend the morning with Lily's physical therapist discussing her AFOs (aka ankle braces) order and which wheel chair will work best for her.  Must think about wheel chair lasting for the next 3-5 years and what features we'll need.  Wonder how anyone can plan 3-5 years in the future for a 22 month old?

Thursday- Spend the morning with her occupational therapist.  Discuss Lily's sensory processing issues.  This means she pulls her hair, bites and scratches herself, makes herself vomit, or grinds her teeth anytime she has sensory overload.  What constitutes sensory overload?  A wet diaper, when someone isn't paying constant attention to her, boredom, pain, leaving the house.  Basically, almost any time she isn't getting exactly what she wants.  It is her means of communication.  Prescription?  A deep pressure program which involves me brushing her down, then doing a series of joint compression moves, and, if at all possible, swinging her.  Every 1.5 hours.  Throughout the entire day.  For at least, 5-6 weeks.  This on top of her feedings every three hours that require 15 minutes of stomach venting (don't ask) before and after every feeding.  The feedings last about 1 hour and 45 minutes.  I'll let you do the math.

And this is actually a fairly quiet week for us.  I left out all the other activities and just tried to highlight the ones that stressed me out the most.  Writing it out actually makes me feel like I accomplished something this week, though.  In spite of having a mostly wrecked house, being so far behind on paperwork, and forget about my social life or hobbies.

On the other hand, she has laughed a lot this week.  And she's rolling like crazy and starting to scoot backwards more and more.  She imitates the pitch of noises around her.  She's doing things for the first time and I hope some small part of that is because of all we do for her.

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.