Hello everyone. We are all anxiously awaiting snow here!!!! Dan is so excited to see Rose Nacheca's reaction to her first snow :)

Things are still going wonderfully with her. She loves music!!! She asks to listen to her favorite songs over and over again.

We had an appointment at the endocrinologist for both Rose Nacheca and Michelle last week. Oddly they had both grown almost exactly the same amount 3/8 of an inch in 3 months and both gained 2.5 pounds. Neither of the girls had grown what a child their age should have grown but we will take whatever we can get out of them LOL!

Rose Nacheca also went to the audiologist this week. One of the complications that can develop from this infection she acquired in utero is hearing loss. She does indeed have hearing loss. She has moderate hearing loss in her left ear. And minimal hearing loss in the right. She needs to go in and have a procedure where they sedate her and hook electrodes up to her head. They will put sound in her ears and then see how her brain reacts to the noises. This will tell them what kind of hearing aids she needs. This process can take a little time so we are hoping that we can get it done before her visa is set to expire. Although getting her visa extended should not be that big of a deal should it come to that.

Otherwise things are going great! She is tolerating her tuberculosis medication very well. It tends to upset her stomach so we are experimenting with the best time of day to give it to her. The morning between breakfast and lunch tend to work best. If she takes it at bedtime she does not sleep well at all :(

She is so sweet and affectionate. She learned how to say I love you so whenever anyone leaves or comes home she is waiting with a hug and tells them that she loves them. We all love her too!!!!!

Thanks for the continued prayers!

Rose Nacheca did very well for her MRI and cat scan on Friday :) The MRI was to check her pituitary gland. That turned out completely normal.

The cat scan was to look for active Tuberculosis. Her skin test came back positive for exposure to Tuberculosis. This freaked me out at first but we went right to the infectious disease doctor who assured us that the chest x-ray she had the first week she was in the United States was clean so his feelings were that she was not contagious or sick. He did follow up blood work which was also good. The CT scan was just precautionary because the standard treatment for inactive tuberculosis is a course of 9 months antibiotics. If there had been active infection and we treated with only one antibiotic that could cause resistant bacteria. But the scan turned out completely normal confirming what the doctor already thought. She is healthy and cannot make anyone sick! She will most likely start her 9 months of medication this week.

It seems like the more times we go looking the more things we find. She is iron deficient (not a surprise since there is very little meat that she will eat!) so she is now taking a supplement for that too. The next time she goes back to the doctor is on October 22nd when she sees the endocrinologist again. I am excited to see if she has grown at all. It will have been 3 months between visits so there should be growth!

I have not updated on Michelle lately. She is doing well. She has back on her Increlex, almost her full dose. We have to increase it very slowly to make sure her blood sugar can adjust. She is still having some issues with hypoglycemia but they are much less frequent than before we added the growth hormone. Her school decided to write a 504 plan for her so that every teacher she works with is completely informed and educated on her condition and hypoglycemia issues. This year she has only had to go to the nurse like 3 times with low blood sugar so we are happy with that!

Hope everyone is enjoying fall! We are experiencing quite a heat wave here the last couple of days. Friday it was 87!!! Lots of going to the park and hanging outside for us this weekend:)

Good news!

Rose Nacheca had her appointment with the Infectious Disease doctor today. I have been dreading this appointment for the last 10 days since we heard her test results. I had feared the worst and it turned out I worried for nothing.

Rose Nacheca has indeed had CMV at some point. This doctor though seems to have serious doubts that it was during the first trimester of her mothers pregnancy with her. She does have some characteristics of congenital CMV but she is NOT severely affected. Things could have been so much worse. At this point the biggest concern is her hearing. They set us up with an appointment with an audiologist in November to see how well she hears. They ordered some other blood tests to check how some organs are functioning but overall he is VERY happy with how she looks :) He really thinks she will do just fine!!!!

So I guess we go back to the endocrinologist to pursue the low IGF-1 and IGFBP-3 levels. The next step for her is a MRI. Not too sure when that will happen yet. Hopefully soon!

Thanks for the prayers!!! She has been sick since Friday. She has had a cold, fever and stuffy runny nose, and now she has an ear infection again. So hopefully with the new antibiotic she will start feeling better (and sleeping better LOL) really soon!!!

It has been a long time since I have updated this. We have been very busy with the kids going back to school.

We have some more news on what is going on with Rose Nacheca. Our endocrinologist went out of the country the week after Rose Nacheca's initial appointment. All the results from her blood tests were unavailable until he returned a week and a half ago. He called last Thursday to let me know we had some answers.

There are certain infections or viruses that can cause serious birth defects when a mother gets them during the first trimester of pregnancy (like measles). Rose Nacheca's mother had one of these infections during her first trimester of pregnancy which is what is causing her failure to thrive. She tested positive for the antibodies which means she is now immune. However her small head, severe growth retardation and heart defect all orginated from this infection mom had. She goes to a specialist on the 27th to see what other organs might be impacted as well. One of the complications that frequently happen with this is hearing and vision loss. It is a degenerative thing so this could happen at any time in her future. This news made me very sad. She is thriving so well, learning to talk and speak English so well. To know that there is a chance (we don't know yet how likely) that she will lose her hearing was very devastating!

She is also deficient in the same hormones that Michelle is deficient in. There could be a couple of different causes of this but they all originate from the birth defects she was born with. These hormones are primarily produced in the liver and the liver can be affected by her condition so this could be causing her liver to not be functioning properly. She has had liver panels done and they were normal so that is a good sign. The other possibility is that her microcephaly (small head) is affecting her pituitary gland and causing her to be growth hormone deficient which would also make her IGF-1 levels be low. More tests have to be done at the endocrinologist to determine for sure what the source of her low IGF-1 and IGFBP-3 levels are.

So we were very surprised by this news. She is such a happy little girl. She can speak full sentences and understand almost everything that you say to her! She says please when she wants something and thank you when you give it to her. She keeps up very well with the older kids in the house. We read lots of stories and she would color for hours at a time. I will be honest when I say I was a little angry inside at her diagnosis. An infection that would be so inconsequential at any other time except the first trimester of pregnancy has left her with a congenital birth defect. That is really crappy timing! I know that God has a plan and purpose for everything. I trust in his timing and his plan. I also have gotten to know this little person very well and I do not see her being the type of person to let any of this stop her! Many of the children born with this congenital birth defect never walk or talk. They are unable to hold their own head up and have to have feeding tubes put in to keep them adequately nourished. I think about that and I have to wonder......this little girl lived the first two years of her life in a type of poverty most of the world could never imagine! She slept in a straw hut in the middle of the jungle. She had no medical intervention at all! And yet here she is at three years old and she is walking (most of the time she is running and jumping and dancing!!!) and she is speaking full sentences. There has to be a plan for her life. I am convinced of that.

So we will see what the doctors have to say next week. Please pray for her and for the doctors to have wisdom. At first I was very discouraged and sad but I really believe that she is one tough little lady and with our prayers reaching her perfect creator she is in good hands!

I will update a little about Michelle later. Goodnight!

Atrial Septal Defect....... We met with the cardiologist this afternoon for an echocardiogram. Several doctors had noticed a significant heart murmur in Rose Nacheca. At first I was worried because we were supposed to be there only for the echo but after the technician was done she said she was going to put us in a room and have the cardiologist come in and talk to us. That was a stressful 20 minutes.

The news was not really that bad though. The good news....ASD is very easily fixed and does not even require open heart surgery! It can be done in a cath lab as a same day surgery. She would not even have to spend the night. The bad news...she is too small for the surgery. They would not do the surgery for 12-18 months. So it cannot be fixed during this visa.

ASD is a hole in between the top chambers of her heart. Most infants are born with this. The hole gradually closes on its own. At three years old they do not think that will happen now. The average hole is 2mm. Hers is almost 7mm. They want to do another echo in 6 to 9 months to see if there has been any change.

ASD would not cause her growth retardation so there is still something else going on. My question for the cardiologist (to which he did not have an answer) was if whatever is causing her growth delay could also have caused the hole to not close by itself. Michelle was born with kidney reflux. Kidney refux will (if it is going to) correct itself by age 5. After age 5 surgery is required to fix it in order to protect the kidneys. Michelle still had kidney reflux at age 5 and the doctors wanted to do surgery. Since Michelle was significantly behind in size I refused to consider surgery until she was the size of an average 5 year old. My instincts paid off, when Michelle was 7 1/2 to 8 years old and the size of an average 5 year old her kidney reflux was gone. My thought is maybe this could be the same for Rose Nacheca. Maybe once she grows a little maybe the hole could close too. I have no idea (nor does the cardiologist) if this is possible or not.

So for now they said that she can be treated like any normal 3 year old little girl. She can run around and play and she will be fine. They said that the surgery needs to happen before she is 5 years old or the hole gets to be 11mm. After 11mm the surgery would have to be open heart surgery. So this is better news than we were fearing!

We are still waiting for all of her blood test results, some of which could take a couple more weeks. But we are moving forward. Now that the cardiologist has cleared her the next major test she needs in an MRI of her brain and pituitary gland.

Thanks for the continued prayers. We are enjoying everyday with her and she is a bright spot in the house :) She learned to to say I love you, which is so sweet to hear!

Goodnight!

Greetings :) We have been very busy here the last couple of weeks. We have been catching up on life and trying to get things into a normal routine again after all of the chaos at the end of July!

We started getting some more test results back for Rose Nacheca. Last week she went down to the endocrinologist at Children's and had an x-ray and some blood work done. We also went to an orthopedic doctor last week as well.

The orthopedic doctor looked at the x-rays from Children's and remarked that you could tell by her bones that she had been under a lot of stress, trauma or has an underlying medical condition. She has lines on her bones, at first I wondered if they were breaks, that are called growth arrest lines. They can tell by looking at the x-rays that she grows differently. She does not grow for a while and then she will grow and then she stops growing for a while and then she will grow again. Each of these cycles creates one of those lines. This is exactly how Michelle grows as well when she is not on her medication. She would grow and inch and then not grow at all for 10 months or so. It would be interesting to see if Michelle too has growh arrest lines on her x-rays. Other than that he said that her spine is straight, her legs are not clinically significantly different lengths so no lift is required for her shoes.

We got the results of her x-rays for the endo today. Her bone age is significantly behind. She is 36 months and her bone age is that of an average 22 month old. For a normal 36 month old she should have had 53 growth centers visable on her x-ray and she only 40. For those of you not familiar with the endocrine world this might not make much sense so just trust me, this is delayed. Her IGFBP-3 levels were the lower end of normal but her IGF-1 levels were not back yet. They should be back by Friday.

Michelle also had her bone age done last week and those results were good as well. They measured her after being on Growth Hormone for the last month and she had not grown AT ALL! This was very disappointing for me but at the same time not surprising. Her body makes more than enough GH but not enough IGF-1. The growth hormone is simply to level out her blood sugar. But it is frustrating that we are going through all the work and pain of the shots and it is not working at all. We are still battling with insurance to get her Increlex covered so that she can start back on that. Back to the bone age, the last time that she had her bone age done it was only 2 months behind her chronological age. So thankfully her bone age is now behind 12 months. This is good because at least while she has not been growing for the past 8 months, her bones have not matured either. This means that nothing has been lost during this stint off the medication.

Hopefully this is not too technical. I know some of you reading are going through the same things and know what all of this means. For those of you who don't sorry :(

Other than that Rose Nacheca got to experience her first taste of fair food! She loved it all, the chili cheese fries, corn dogs, corn on the cob and by far funnel cakes were her favorite! She is up 1 1/2 pounds now and doing great! Her vocabulary is growing so much everyday. She constantly makes us laugh with the things that she says :) She is even starting to make friends with the dogs!

Thanks for the prayers! Please pray that Michelle could get her Increlex quickly or it will be a very rocky start to the school year as her blood sugar adjusts to the medication!

Let the testing begin.

Rose Nacheca continues to adjust to life in America beautifully! She is saying so many new words everyday!

She goes back to Children's tomorrow afternoon to start some tests. They are going to do some blood work to check for chromosome abnormalities that could explain her size. They will also be testing her IGF-1 and IGFBP-3 (that is what Michelle is deficient in.) Both Michelle and Rose Nacheca will have x-rays tomorrow as well. It is time for Michelle's annual bone age and Rose Nacheca will have an x-ray of the left side of her body to look at the growth plates.
Thursday she will go to the orthopedic doctor to look at her legs. It looks like one of her legs and one of her arms are longer than the other. I want to buy her some tennis shoes but if the difference is significant enough she will need to have a lift built into the shoe of the shorter leg. This would help with her spine as well.

There was a problem with our insurance AGAIN so Michelle is still only one growth hormone. She is still doing great on it but we would really like to get the Increlex started up before school starts so that we can deal with the blood sugar issues as she adjusts here at home rather than at school!

Thanks for the prayers. We are all enjoying watching Rose Nacheca experience all of these new things! At the same time we are showing her pictures of her family at OLTCH everyday and she loves seeing them! Speaking of OLTCH please pray for them. They got heavy rains and it flooded them a bit. Their generator went underwater so it is not working. Without a generator they do not have electricity or running water. Living in Haiti it is hard to find a new generator. God will provide though I am confident!

Little Rose Nacheca is adjusting to life in America just perfectly! She loves to laugh and dance. She tries to be silly to make us all laugh too! She has really been a bright light in this house all week!

Most of you know that the US Customs and Border Protection extended her stay in the United States 6 MONTHS! God's hands have been all over her little life and this situation and it is just amazing to see how he has opened doors and peoples hearts all around her. We are in awe!! Thank you to everyone who has been praying for her. The prayers are working!

She met with a lot of doctors this week. We got some good news and some bad news. The good news is that she tested negative for HIV and Hepatitis. The bad news is that she has a significant heart murmur. Her endocrinologist wants to make seeing a cardiologist a top priority. He really believes she has a congenital heart disease. While that can cause slower growth, it would not be to the extreme at which she is failing to thrive. So she definately has other issues happening at the same time. He was very reassuring though and said that this could be treated, but not in Haiti. So our first priority has been getting a good look at her heart. They ordered an echocardiogram and we got some referrals to a pediatric cardiologist.

On a funny note, I am not very good at dealing with her hair LOL! Our neighbor helped us out with that and tonight we met two awesome women who do braiding. They came out and did her hair so that she would look beautiful tomorrow when we take her to church to meet all the people who have been praying for her and supporting her OLTCH family. They were christian women and they were just amazing. They even did Michelle's hair while they were here. They said that they would be happy to do Rose Nacheca's hair for free anytime!

Speaking of OLTCH please remember to keep them in your prayers as well. The work that Greg and Jasmine do in Haiti is such a blessing for those little children!

Goodnight!

Praise God!!! Rose Nacheca finally made it to the United States :) She left Haiti on Friday July 23rd and arrived at the Magic Convention in Chicago on Saturday July 24th! She was able to meet with a Pediatric Dentist and one Pediatric Endocrinologist who took MANY pictures of her to send to geneticists and an internation adoption specialist trained in identifying conditions based on physical characteristics.

They agreed that she definately has some major issue and they are going to help us figure out what it is. This is very great news!!!

She will meet with an endocrinologist tonight who specializes in a very rare and unique disorder, Russell Silver Syndrome. Rose Nacheca has some characteristics of this but not all. This doctor can usually tell just by a physical exam whether or not this is what is wrong or not.

We will head home tomorrow and start a series of doctors appointments for her there!

Update on Michelle: Michelle started her growth hormone therapy last week. She is doing great! She was very concerned about the pen device used to give the growth hormone. Until now all the medication she has been on has been given through regular syringes so this was a new thing for her. After much objection on her part she tried it and really likes the way it works.

Once we get home we will start the Increlex again. We did not want to worry about the blood sugar issues that she deals with while using Increlex while we were traveling.

Thanks so much for all of you who have been praying for our situation. The prayers are definately working. The next step we have to deal with is to get Rose Nacheca's visa extended. The Haitian government was not very generous with the time they gave us with her. Her visa is currently only for 10 days. This is NOT enough to get everything done that we need to do! It took 5 years for us to get an accurate diagnosis for Michelle. But now we are very well connected in the endocrine world and have many doctors on board and ready to help. The senator's office is ready and willing to help us get the visa extended. So keep praying that is as easy as they made it sound!

Thanks again! I am going to go outside and blow bubbles with my two favorite "Magic" girls!

This is my first experience with blogging. I am sure it will take some getting used to. I decided to start this because I thought it might be a good way to keep everyone connected with the exciting things happening.



We first became aware of the world or growth disorders when our daughter Michelle was born in 2000. She was born in the 50% for height and weight and appeared to be perfectly healthy. After she was born it became increasing obvious that something was not right. She remained very small. At her 4 month check up she had fallen to the 10% for height. Slipping percentiles became the normal until, at 11 months, she was completely off the growth chart. That was a time of great worry, especially for me. Growing is one of the most basic of functions and when your child fails to acheive this it can be very very scary! Children eat, sleep and grow. Most of us take this for granted and never have to give it a second thought. But as we found out, sometimes it is not that simple.



We spent the first 5 years of her life going to doctor's appointments, specialists (endocrinology, gastroenterologists, orthopedic doctors, kidney doctors and allergy specialists) and spending many days at various hospitals having tests. It was a very frustrating experience for all of us. No one wants to see their child hurting. Michelle was so incredibly tough. She got so used to IV's, every stomach flu required IV fluids because she had absolutely NO weight to lose.



Not only would she not grow very much but every fraction of an inch that she would grow would cause so much pain! She would scream in the night and we would have to hold ice packs to her legs and give her pain medications.



Finally when Michelle was 5 years old we got the answers that we had been praying for, a diagnosis. Michelle was diagnosed with a rare disorder called Insulin like growth factor -1 deficeincy. The relief of finally having a diagnosis was quickly overshadowed with the reality of the treatment plan. Michelle requires shots every day to keep her growing. She started on a trial of Growth Hormone, the easiest of possible treatment plans. This was unsuccessful. So we tried a once a day shot of IGF-1 replacement therapy. She had an allergic reaction to this so we had to discontinue that as well. Next we tried a medication called Increlex. This required injections twice a day. She was on this treatment plan for about 3 1/2 years.



Michelle grew very well on Increlex. Her growing pains stopped and she made it on to the growth chart for the first time since she was less than one year old. Unfortunately the side effects were a major issue for her. Due to severe hypoglycemia she had to stop taking the medication. After 7 months we recently recieved approval from our insurance company to start a combination therapy of growth hormone and Increlex. The growth hormone should regulate the blood sugar and help her growth velocity. We will be starting this therapy within the next 10 days.



During this journey, we have hooked up with many wonderful people. The Magic Foundation in Chicago has been a source of great support for us. Since this is a very rare disorder we are all learning together. I became the Division Consultant of the IGFD division several years ago. Helping other people dealing with the same issues as we are dealing with Michelle has given this experience some sort of purpose or meaning.



The other exciting adventure we are working on is helping a little girl named Rose Nacheca (everyone calls her Rodnashka). Rodnashka lives in Leogane Haiti. She came into our lives because Dan went to Haiti to visit an orphanage with our pastor and a friend from church last September. Dan is a board member for the orphanage. He came home and told me about a little girl who he was certain had a growth disorder like our Michelle. I never thought much about it until I met the missionaries (Greg and Jasmine Martinson) who run the orphanage in November. They had pictures of the children in the orphanage and when I saw a picture of Rodnashka it practically took my breath away! She looked just like Michelle, obvious complexion differences aside. They could have been twins. When I showed the picture to Dan he told me that was the girl he had been telling me about. I knew right then that I had to help her. My heart felt an immediate connection to her, something that I have never been able to understand really. We decided in early January we were going to try to get her here on some sort of medical visa and help figure out what was going on with her. Then January 12, 2010 happened. Her little world was shaken, houses fell all around her, and millions of lives were changed in an instant. The whole family at OLTCH (Operation Love the Children of Haiti, the orphanage she lives at) were totally unharmed. But, our focus then had to be their survival. Dan traveled back and forth many times in the wake of the earthquake. Each time he would spend time with her and bring back pictures of her for me! I traveled to Haiti in April and got the opportunity to meet her and spend Easter weekend with her and Greg and Jasmine and the OLTCH gang. I have prayed for a way to get her here everyday since then.

The Magic Foundation wrote a formal invitation for Rodnashka to come attend the annual convention this July. We have worked out arrangements with our pediatrician to start some blood work, she will see an endocrinologist, pediactric dentist who specializes in children with growth disorders, and possibly Shriners.



Many people in Haiti have been working very hard to get everything lined up. We are coming down to the wire now though. Her passport is done, but as of the last time we talked to anyone it had not been picked up due to computer problems in Port Au Prince. We are praying very hard that God would make a way to get her here before the convention.

Hopefully this blog will be a way for us to keep everyone updated on everything that is happening as well as to keep our friends with children with similar disorders informed on how this new treatment is going. The endocrine world can sometimes be a scary and lonely place to be and it helps to know that you are not going through it alone.