This past week and half has been very much a roller coaster of a ride. Last Monday (April 30th) I had the intention for me and Mackenzie to lay around in our pajamas for most of the day and enjoy a day of nothing. We don't get many days like this between therapies and appointments so we definitely take advantage of them when they come.:) But soon after 8 am I received a call from Dr. Goodkin, the neurologist we saw a couple of weeks ago, stating that he wanted to see us as soon as possible.
Mackenzie had an MRI of her brain at 15 months (last June). The report came back fine, or so we thought. I always questioned the short report we received in paper on the MRI. It mentioned some underdevelopment but then stated it was most likely due to the maturity of Mackenzie's brain since she was only 15 months old. I brought this up to doctors we saw over the past year but no one ever saw a concern until I brought it up to Dr. Goodkin. He ordered another MRI to be done of Mackenzie's brain (which was supposed to be last Friday) but then after our appointment a couple of weeks ago, Dr. Goodkin had the radiologist he works with read the first MRI and found that it was misread. We are extremely thankful for the steps Dr. Goodkin took. He continued looking into Mackenzie after we left the appointment and because of that, we did not have to put Mackenzie through another MRI (at least for now).
Back to Dr. Goodkin's phone call- He stated that he wanted to see us that morning. I didn't ask any questions since I knew I would have the chance to that once we saw him and remember him stating that this won't change how we're doing things overall, but will give us more clarity as to what's going on with Mackenzie. We shortly headed out for the hour plus drive to talk with Dr. Goodkin in what I'm assuming was his lunch break. It was a very long hour with many things going through my brain. Dr. Goodkin got straight to the point when we saw him. He showed us a picture from Mackenzie's previous MRI and right away I knew what it meant. The picture looked quite similar to this picture which is referred to as the "molar tooth sign". This sign is an obvious sign for Joubert Syndrome. Dr. Goodkin questioned how I knew about this and I stated that I have connected with a few other parents of children with OMA whose children are also being tested for Joubert Syndrome. I ruled this out for Mackenzie due to being told that her MRI from last June came back fine.
Dr. Goodkin was extremely sympathetic and caring when he spoke with us and gave us as much information as he could on Joubert Syndrome. He stated that it is an EXTREMELY rare genetic disorder. The one part I will always remember is how he said that the information we are getting right now lays on us as parents of Mackenzie. Doctors and other professionals we come into contact with may know what Joubert Syndrome is but that may be about it. He said that we will know more information about JS than any professional and will be the best advocate for Mackenzie. Talk about feeling overwhelmed! He went into detail of how people with JS can have complications with their liver and kidneys, have difficulties with their coordination and balance, abnormal brain development, abnormal eye movements and the list goes on. Ocular Motor Apraxia is often a symptom of Joubert Syndrome so we were on the right road with Mackenzie but just not all the way there (and may never end up getting all the answers we are hoping to get). The website that Dr. Goodkin gave us to get connected with other parents and to find information on research going on for Joubert Syndome is JSRDF. He told us that there are different studies on Joubert that we should look into for Mackenzie. He also gave us a sheet that we need to hand to Mackenzie's doctors of what examinations, etc should be done on a regular basis which can be seen here. I must add that Mackenzie had a little bit of a fussy time (what 2 year old doesn't when at the doctor!?) but she smiled and showed her very cute side to the doctor like she always does.:) Dr. Goodkin made it clear that he thinks Mackenzie is doing wonderful with her progress which made us feel better after receiving Mackenzie's diagnosis.
So where do we go from here?
BJ and I took some time to process everything. We had done so much research on Ocular Motor Apraxia and felt like we knew the disorder quite well. And then, when we least expected it, Mackenzie received a different diagnosis and one that we didn't think she had. I have been on the computer every evening searching for more information. I found a wonderful Facebook group and immediately after introducing myself, I received several comments and messages from parents going through exactly what I'm going through. I contacted those on the Joubert Foundation website and received the same kindness I received through the Facebook group. I never have had so many "strangers" show so much kindness and care so much for my daughter who they don't know. Through them I found out about a study that the NIH (National Insitute of Health) is doing on Joubert Syndrome. I contacted the nurse for the study and immediately received a response back stating that BJ, Mackenzie, and I are able to come to the NIH in a couple of months to do a 4 day study. We are very thankful that we will be a part of this. From my understanding- more genetic testing will be done along with kidney and liver tests, studying the eye movements, cognitive testing, nutrition testing, and the list goes on. Those in the Facebook group who have already participated in the study speak quite highly of it and say that they were given lots of information. Of course some of the information may not be what we want to hear. Liver and kidney complications can be found. From what I read, there are at least 10 mutated genes that can cause Joubert Syndrome. If a mutation is found in Mackenzie's genes then it can give more of an understanding of what type of complications she may or may not have but we have been told to keep in mind that Joubert Syndrome and the research is very rare and new so what we are told may not be what actually happens. But it will be nice to know what Mackenzie may expect in her future. Since this is a genetic disorder then BJ and I do have a 25% chance to pass this along to any future children.
Like I stated at the beginning, we have definitely seen ups and downs since last Monday. I am thankful that we have more of a clear diagnosis but it is hard that it is very rare and not much is known about it. I do wonder what the future holds for Mackenzie with her development and health. The neurologist stated that Mackenzie does seem to have a pretty mild form of Joubert Syndrome. He stated that Mackenzie is not characterized by having JS, she is who she is. Very important for me to keep in mind! I do not want my child to be labeled or for people to have preconceived notions of my child. I am constantly reminded by family, friends, and by Mackenzie that she is a very determined child. I know for a fact that she will not let anything get in her way. I am thankful that God has allowed me to be her parent. I feel like I have a huge responsibility but also know that He would have not blessed me with Mackenzie if He knew I couldn't handle her. She is already doing so well and will continue making so much progress. It may be slow but it's progress and we will celebrate every tiny milestone as they come.
I want to end by stating how grateful I am to family and friends for praying for us and giving endless amounts of encouragement. In the past week I have ran into people who I barely know (but know well enough to be "friends" on Facebook:)) who have stated that they keep up with Mack's blog and are praying for her. We definitely feel the prayers and are extremely thankful.
I don't have any recent videos to share however I did add videos of Mackenzie from 5-11 months old that are quite cute (I may be biased since I'm her mother:)). Here is the link: http://www.youtube.com/user/bjwhitmack
Here is a recent picture of our precious daughter.
Mackenzie had an MRI of her brain at 15 months (last June). The report came back fine, or so we thought. I always questioned the short report we received in paper on the MRI. It mentioned some underdevelopment but then stated it was most likely due to the maturity of Mackenzie's brain since she was only 15 months old. I brought this up to doctors we saw over the past year but no one ever saw a concern until I brought it up to Dr. Goodkin. He ordered another MRI to be done of Mackenzie's brain (which was supposed to be last Friday) but then after our appointment a couple of weeks ago, Dr. Goodkin had the radiologist he works with read the first MRI and found that it was misread. We are extremely thankful for the steps Dr. Goodkin took. He continued looking into Mackenzie after we left the appointment and because of that, we did not have to put Mackenzie through another MRI (at least for now).
Back to Dr. Goodkin's phone call- He stated that he wanted to see us that morning. I didn't ask any questions since I knew I would have the chance to that once we saw him and remember him stating that this won't change how we're doing things overall, but will give us more clarity as to what's going on with Mackenzie. We shortly headed out for the hour plus drive to talk with Dr. Goodkin in what I'm assuming was his lunch break. It was a very long hour with many things going through my brain. Dr. Goodkin got straight to the point when we saw him. He showed us a picture from Mackenzie's previous MRI and right away I knew what it meant. The picture looked quite similar to this picture which is referred to as the "molar tooth sign". This sign is an obvious sign for Joubert Syndrome. Dr. Goodkin questioned how I knew about this and I stated that I have connected with a few other parents of children with OMA whose children are also being tested for Joubert Syndrome. I ruled this out for Mackenzie due to being told that her MRI from last June came back fine.
Dr. Goodkin was extremely sympathetic and caring when he spoke with us and gave us as much information as he could on Joubert Syndrome. He stated that it is an EXTREMELY rare genetic disorder. The one part I will always remember is how he said that the information we are getting right now lays on us as parents of Mackenzie. Doctors and other professionals we come into contact with may know what Joubert Syndrome is but that may be about it. He said that we will know more information about JS than any professional and will be the best advocate for Mackenzie. Talk about feeling overwhelmed! He went into detail of how people with JS can have complications with their liver and kidneys, have difficulties with their coordination and balance, abnormal brain development, abnormal eye movements and the list goes on. Ocular Motor Apraxia is often a symptom of Joubert Syndrome so we were on the right road with Mackenzie but just not all the way there (and may never end up getting all the answers we are hoping to get). The website that Dr. Goodkin gave us to get connected with other parents and to find information on research going on for Joubert Syndome is JSRDF. He told us that there are different studies on Joubert that we should look into for Mackenzie. He also gave us a sheet that we need to hand to Mackenzie's doctors of what examinations, etc should be done on a regular basis which can be seen here. I must add that Mackenzie had a little bit of a fussy time (what 2 year old doesn't when at the doctor!?) but she smiled and showed her very cute side to the doctor like she always does.:) Dr. Goodkin made it clear that he thinks Mackenzie is doing wonderful with her progress which made us feel better after receiving Mackenzie's diagnosis.
So where do we go from here?
BJ and I took some time to process everything. We had done so much research on Ocular Motor Apraxia and felt like we knew the disorder quite well. And then, when we least expected it, Mackenzie received a different diagnosis and one that we didn't think she had. I have been on the computer every evening searching for more information. I found a wonderful Facebook group and immediately after introducing myself, I received several comments and messages from parents going through exactly what I'm going through. I contacted those on the Joubert Foundation website and received the same kindness I received through the Facebook group. I never have had so many "strangers" show so much kindness and care so much for my daughter who they don't know. Through them I found out about a study that the NIH (National Insitute of Health) is doing on Joubert Syndrome. I contacted the nurse for the study and immediately received a response back stating that BJ, Mackenzie, and I are able to come to the NIH in a couple of months to do a 4 day study. We are very thankful that we will be a part of this. From my understanding- more genetic testing will be done along with kidney and liver tests, studying the eye movements, cognitive testing, nutrition testing, and the list goes on. Those in the Facebook group who have already participated in the study speak quite highly of it and say that they were given lots of information. Of course some of the information may not be what we want to hear. Liver and kidney complications can be found. From what I read, there are at least 10 mutated genes that can cause Joubert Syndrome. If a mutation is found in Mackenzie's genes then it can give more of an understanding of what type of complications she may or may not have but we have been told to keep in mind that Joubert Syndrome and the research is very rare and new so what we are told may not be what actually happens. But it will be nice to know what Mackenzie may expect in her future. Since this is a genetic disorder then BJ and I do have a 25% chance to pass this along to any future children.
Like I stated at the beginning, we have definitely seen ups and downs since last Monday. I am thankful that we have more of a clear diagnosis but it is hard that it is very rare and not much is known about it. I do wonder what the future holds for Mackenzie with her development and health. The neurologist stated that Mackenzie does seem to have a pretty mild form of Joubert Syndrome. He stated that Mackenzie is not characterized by having JS, she is who she is. Very important for me to keep in mind! I do not want my child to be labeled or for people to have preconceived notions of my child. I am constantly reminded by family, friends, and by Mackenzie that she is a very determined child. I know for a fact that she will not let anything get in her way. I am thankful that God has allowed me to be her parent. I feel like I have a huge responsibility but also know that He would have not blessed me with Mackenzie if He knew I couldn't handle her. She is already doing so well and will continue making so much progress. It may be slow but it's progress and we will celebrate every tiny milestone as they come.
I want to end by stating how grateful I am to family and friends for praying for us and giving endless amounts of encouragement. In the past week I have ran into people who I barely know (but know well enough to be "friends" on Facebook:)) who have stated that they keep up with Mack's blog and are praying for her. We definitely feel the prayers and are extremely thankful.
I don't have any recent videos to share however I did add videos of Mackenzie from 5-11 months old that are quite cute (I may be biased since I'm her mother:)). Here is the link: http://www.youtube.com/user/bjwhitmack
Here is a recent picture of our precious daughter.
"I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......
When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."
"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."
But there's been a change in the flight plan. They've landed in Holland and there you must stay.
The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.
So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."
And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.
When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."
"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."
But there's been a change in the flight plan. They've landed in Holland and there you must stay.
The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.
So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."
And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.
But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland."
Welcome to Holland by Emily Perl Kingsley
Welcome to Holland by Emily Perl Kingsley
