At the beginning of the summer we took Bridget to see a Specialist 20 hours away from our home in the hopes to find an answer to Bridgetitis. We had gone on a search for our own Dr. House. We allowed them to perform Exome sequencing, where Bridget’s DNA would be (in layman’s terms since I really am not a scientist) broken down and reviewed by computer strand by strand allows the scientist to discover where the gene may have gone awry.
We got the results. Finally.
It was mind blowing and this might ramble so bear with me.
The short story:
They found the gene that is mutated, PACS1 with related intellectual disability syndrome. We were given a gift as this gene mutation was not hereditary (something Abby and my nephews/nieces won’t have to worry about passing on) and best news ever:
Bridget would not have a shorter life due to the mutation.
The epic story:
When we were called by the specialist from Georgia with the results she admitted she had never heard of this mutation before, however there was a research paper written in regards the discovery of two boys who had the malformation and similar characteristics.
As with our local doctor we were told that this type of science, Exome sequencing, is in the infant stages. It is being fast-tracked to discover rare and what they call “orphan” diseases. Very few patients are able to undergo the testing as the politics, hospital and insurance policies make it sometimes difficult to perform. If we had gone through the regular channels it would have taken potentially a year or more to have the testing done. If we were even approved.
Instead, we paid out of pocket for the physician and the laboratory company handled all of the insurance paperwork for us. Which I should probably say a novena in thanks. It was a one time in clinic visit followed by a telephone follow-up to find the results.
It was worth every bit of overtime David had to work.
The doctor in Georgia was beyond honest, telling me she was handing me results and limited information. From here I would have to work with Bridget’s home team and my own discoveries. Thankfully Bridget’s geneticist is beyond approachable and was more than happy to take the results and find out more information.
Yet we could not get in to see him until after January.
I did not want to wait that long. I have never claimed to be patient when it comes to Bridget’s health. Here is where Fate steps in.
The fate story:
About 10 years ago I began working in clinical research administration. When the Georgia doctor told me there was a paper written on the PACS1 gene I knew where to look for the information.
I did not understand most of what was written, again not a scientist. What I did understand was that Bridget had the characteristics discovered in the two boys (other than the testicles). That while she might not look like the boy pictured, they both had the dysmorphia of their facial features.
At the top of every clinical study paper authors are listed by how much they contributed to the project. In this case there was a caveat that all equally participated. Great news for me, as when I used Google to find them most were in the Netherlands. Except one.
Who is a professor at a University in North Carolina.
stalked used the web to find this doctor’s e-mail address. Instead of arresting me or putting my request into his junk mail folder, he not only answered my e-mail, he also forwarded it to another doctor more involved in the follow-up of the study patients. He answered within two hours.
Since that paper was written in 2012, 20 other children and young adults have been found to have the PACS1 malformation. He asked if I had any specific questions (of course I did) and again answered within a day. The doctors also put me into contact with the group of parents who have been diagnosed. We now have more people in our village.
Although there isn’t a named syndrome for the PACS1 malformation, they do have some answers. The children are (like Bridget) slow to speak, yet some have begun to read and write. They have poor mobility issues, but with therapies become more independent.
The children have intelligence in the low-range, tend to be smaller (there goes that basketball scholarship) and have autistic features yet most are friendly and sociable. The more I corresponded with this doctor the more thankful I am that he was not only approachable but willing to do something.
My e-mail to him came to him at the most opportune (fateful?) time. He and the lead physician on the study were at a Genetics conference in San Diego. They requested if I would share Bridget’s results with them so they could collaborate with their colleagues.
Of course I said yes. I reached out to our local geneticist with the correspondence. He was upset, not that I found the doctors, but that he was unable to attend the conference due to scheduling conflicts. He immediately contacted his own colleagues who were at the conference and asked them to connect with the doctors I had found.
Fate. God. Karma. I don’t know what. I don’t care what. After five years we might still not have a name, but we have a culprit.
The Hope Story:
Never give up hope. If I have to shout it from the roof tops never give up when a doctor (or anyone) tells you your child will be okay or that they will never do more than sit in the corner and drool. If your doctor (or hospital) will not perform testing that you feel would benefit your child, find another one. We traveled 20 plus hours by car and paid out of pocket for a consultation with the Georgia doctor. Even if we received no answer we would have know that we didn’t give up hope.
Continue fighting for your child. The answer is out there. Believe in yourself and your child. Continue to allow them to amaze you at their potential.
Bridget’s journey is not over. She is still technically undiagnosed as there is no syndrome attached to the gene malformation. It is the parent of all the other diagnoses in her medical history. Which is good news in a way because I don’t have to change this blog’s name. Yet.
I do think PACS1 mutation with related intellectual disability needs a name change.
Bridgetitis has a nice ring to it, don’t you agree?